Rare Primary Care News

Primary melanoma of the central nervous system

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 252050DefinitionPrimary melanoma of the central nervous system is a rare tumor of meninges arising from leptomeningeal melanocytes, typically in the perimedullary or high cervical region, in the absence of melanoma outside the CNS. The tumor is…

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Neonatal systemic lupus erythematosus

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Pseudo-Von Willebrand disease

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D69.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52530 Definition Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD…

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Nemaline myopathy

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G71.2

Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have…

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Radiation induced brachial plexopathy

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Conotruncal heart malformations

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2445 Definition A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition…

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Renal rickets

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Corpus callosum agenesis of blepharophimosis Robin type

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Roifman syndrome

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Q77.7

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X-linked cleft palate and ankyloglossia

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2-methylbutyryl-CoA dehydrogenase deficiency

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E71.1

2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of…

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Iida Kannari syndrome

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Hairy elbows

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Q84.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2220 Definition Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such…

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Schlegelberger Grote syndrome

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Cryptophthalmos

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Hantavirus pulmonary syndrome

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B33.4+ J17.1*

Hantavirus pulmonary syndrome (HPS) is a severe, respiratory disease caused by infection with a hantavirus. People can become infected with a hantavirus through contact with hantavirus-infected rodents or their saliva, urine and/or droppings. Early symptoms universally include fatigue, fever and muscle aches (especially in the thighs, hips, and/or back), and sometimes include headaches, dizziness, chills,…

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SEPN1-related myopathy

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Cutis laxa osteoporosis

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Hereditary cerebral hemorrhage with amyloidosis

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E85.4+ I68.0*

Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th…

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Single ventricular heart

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Cytokine receptor deficiency

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Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

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Q82.4

Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.[1] These features have lead to the acronym ANOTHER syndrome…

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Spastic paraplegia 24

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G11.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101004 Definition A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild…

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Diffuse cutaneous mastocytosis

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Q82.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79456 Definition Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ”peau d’orange” appearance and the accumulation of…

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Microsomia hemifacial radial defects

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Q75.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2549 Definition Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of unior bilateral craniofacial malformation and radial defects that result in extremely variable…

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Spontaneous coronary artery dissection

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Spontaneous coronary artery dissection (SCAD) is a condition in which blood accumulates between the layers of tissue that make up the wall of the coronary artery (the vessel that supplies blood to the heart). The trapped blood then creates a blockage which interferes with blood flow to the heart. Depending on the degree of blockage,…

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Deafness, autosomal dominant nonsyndromic sensorineural 17

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Abetalipoproteinemia

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E78.6

Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color vision, tremors, and speech difficulties.[1][2] The long-term outcome can…

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Syngnathia cleft palate

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Erythrokeratoderma ”en cocardes”

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Q82.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 315 Definition A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or ‘en cocardes’) plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent…

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Alpha-thalassemia-abnormal morphogenesis

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Thai symphalangism syndrome

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DEPDC5-Related Epilepsy

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Episodic ataxia with nystagmus

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97 Definition Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia….

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Transaldolase deficiency

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E74.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101028 Definition Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. Epidemiology…

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Primary hyperoxaluria type 2

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E74.8

Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney…

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Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

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D84.8

Adult-onset immunodeficiency with antiinterferon-gamma autoantibodies is an immunodeficiency disorder. It is associated with susceptibility to disseminated infections (dispersed throughout the body) caused by organisms that typically affect only people with weak immune systems (opportunistic pathogens).[1] People with this disorder produce higher amounts of anti-interferon-gamma autoantibodies. These are specific immune system proteins that mistakenly target a person’s…

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Ulcerative proctitis

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Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms,…

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Die Smulders Droog Van Dijk syndrome

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Acrodysplasia scoliosis

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Q87.5

Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner….

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Virus associated hemophagocytic syndrome

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Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting…

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Diphallia

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Q55.6

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 227 Definition A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two…

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Duane-radial ray syndrome

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Q87.8

Duane-radial ray syndrome (DRRS) is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or…

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X-linked intellectual disability short stature – obesity

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3055 Definition X-linked intellectual disabilityhypogonadism-ichthyosis-obesityshort stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further…

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Acute megakaryoblastic leukemia

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C94.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 518 Definition A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous…

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Hemoglobinopathy

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Adenosine Deaminase 2 deficiency

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M30.8

Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). [1][2] Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain,…

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Duodenal carcinoid syndrome

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Anemia due to Adenosine triphosphatase deficiency

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Meckel syndrome

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Q61.9

Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants…

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Neonatal adrenoleukodystrophy

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E71.3

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 44 Definition A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). Epidemiology…

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EAF

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Arthrochalasia Ehlers-Danlos syndrome

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Q79.6

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[1][2] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is…

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Agnathia-microstomia-synotia

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Pituitary stalk interruption syndrome

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Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary gland  characterized by the triad of a very thin or interrupted pituitary stalk, a misplaced (ectopic) or absent posterior pituitary and a small or absent anterior pituitary, with permanent growth hormone (GH) deficit.[1][2] Signs and symptoms in newborns include low blood sugar levels (hypoglycemia),…

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Otulipenia

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Ellis Yale Winter syndrome

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Q87.8

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2516 Definition Microcephaly cardiac defect lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Epidemiology It has been described in…

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Pseudopseudohypoparathyroidism

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E20.1

Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones.[1][2] PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.[3] Some people…

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Testicular yolk sac tumor

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N-acetyl-alpha-D-galactosaminidase deficiency type III

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E77.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79281 Definition A rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. Epidemiology Prevalence of this disorder is not known but less than 20 cases have…

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Familial erythema nodosum

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Ameloblastic carcinoma

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C41.1

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 314422 Definition A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may…

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Exogenous lipoid pneumonia

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Glycogen storage disease type 4

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E74.0

Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver…

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Androgenetic alopecia

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Androgenetic alopecia is a common form of hair loss in both men and women. In men, hair is usually lost in a well-defined pattern, beginning above both temples and is usually referred to as male-pattern baldness. Over time, the hairline recedes to form a characteristic ‘M’ shape. Hair also thins near the top of the…

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Retinoschisis of Fovea

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Angiosarcoma of the breast

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Familial nasal acilia

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Anonychia congenita

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79143 Definition Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission,…

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Familial reactive perforating collagenosis

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79147 Definition Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. Visit the Orphanet disease page for…

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Necrotizing autoimmune myopathy

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 206569 Definition Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. Epidemiology The…

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Fanconi Bickel syndrome

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E74.0

Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use.[1] People with Fanconi Bickel syndrome do not…

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Factor V Leiden thrombophilia

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Factor V Leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg (deep venous…

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Fetal left ventricular aneurysm

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Autoimmune polyglandular syndrome type 3

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E31.0

Autoimmune polyglandular syndrome (APS) type 3 is an autoimmune condition that affects the body’s endocrine glands. The syndrome, which typically affects women during middle age, results from failure of the glands to produce their hormones. This condition is characterized by autoimmune thyroiditis along with another organ-specific autoimmune disease.[1][2][3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia,…

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Fibromuscular dysplasia

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Fibromuscular dysplasia (FMD) is a condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected….

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Crigler-Najjar syndrome type 2

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Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a…

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Follicular lymphoreticuloma

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Gordon syndrome

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Q68.8

Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are…

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Fronto nasal malformation cloacal exstrophy

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Atrial septal defect coronary sinus

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Richards-Rundle syndrome

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G60.2

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1399 Definition Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or…

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Gastro-enteropancreatic neuroendocrine tumor

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Atypical Werner syndrome

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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79474 Definition An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged…

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Genochondromatosis

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Glaucoma, primary infantile type 3A

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Osteopetrosis autosomal dominant type 1

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Q78.2

Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth.[1][2] Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature,…

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Glycogen storage disease 8

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Autosomal recessive protein C deficiency

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Autosomal recessive protein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.[1] It is caused by having…

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Graham-Little-Piccardi-Lassueur syndrome

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L66.1

Graham-Little-Piccardi-Lassueur syndrome (GLPLS) is a rare type of scarring hair loss. It is most commonly found in otherwise healthy women between the ages of 30 and 70 years. GLPLS is characterized by three features: progressive patchy scarring hair loss of the scalp (cicatricial alopecia), non-scarring thinning of the hair in the armpits and groin (noncicatricial…

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Spastic paraplegia 32

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G11.4

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171622 Definition Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of…

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Haemophilus influenzae

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MYD88 deficiency

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D84.8

MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites…

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Hereditary alpha tryptasemia syndrome

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Hereditary alpha tryptasemia syndrome is a condition characterized by high blood tryptase levels, and by several symptoms associated with multiple organ systems. These symptoms may include allergic-like symptoms (skin itching, flushing, hives, or anaphylaxis); gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation (often diagnosed as irritable bowel syndrome), heartburn, reflux, and difficulty swallowing;…

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Bardet-Biedl syndrome 4

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Hereditary sensorimotor neuropathy with hyperelastic skin

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G60.0

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280598 Definition Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and…

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Graves disease

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Graves’ disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by the immune system mistakenly attacking the thyroid gland, causing the gland to produce too much thyroid hormone. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may…

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Immunodeficiency with hyper IgM type 3

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