Wiskott-Aldrich syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
WAS Eczema-thrombocytopenia-immunodeficiency syndrome |
| Number of Symptoms | 52 |
| OrphanetNr: | 906 |
| OMIM Id: |
277970
301000 600903 614493 |
| ICD-10: |
D82.0 |
| UMLs: |
C0043194 |
| MeSH: |
D014923 |
| MedDRA: |
10047992 |
| Snomed: |
36070007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive X-linked recessive Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dense granule disease
-Rare genetic disease -Rare hematologic disease Genetic immune deficiency with skin involvement -Rare genetic disease Immune deficiency with skin involvement -Rare skin disease Other immunodeficiency syndrome due to defects in adaptive immunity -Rare genetic disease -Rare immune disease Polymalformative genetic syndrome with increased risk of developing cancer -Rare genetic disease -Rare oncologic disease |
Symptom Information:
|
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(HPO:0100820) | Glomerulopathy | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0000112) | Nephropathy | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0000858) | Menstrual irregularities | Occasional [Orphanet] | 42 / 7739 | |||
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(HPO:0000421) | Epistaxis | Frequent [Orphanet] | 85 / 7739 | |||
|
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(HPO:0000225) | Gingival bleeding | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000246) | Sinusitis | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0100533) | Inflammatory abnormality of the eye | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000389) | Chronic otitis media | Very frequent [Orphanet] | 64 / 7739 | |||
|
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(HPO:0009830) | Peripheral neuropathy | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0002383) | Encephalitis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001287) | Meningitis | Occasional [Orphanet] | 46 / 7739 | |||
|
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(HPO:0100769) | Synovitis | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0100774) | Hyperostosis | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0100749) | Chest pain | Occasional [Orphanet] | 92 / 7739 | |||
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(HPO:0002037) | Inflammation of the large intestine | Frequent [Orphanet] | 25 / 7739 | |||
|
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(HPO:0002573) | Hematochezia | 18 / 7739 | ||||
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(HPO:0000978) | Bruising susceptibility | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0000964) | Eczema | 81 / 7739 | ||||
|
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(HPO:0001025) | Urticaria | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0000979) | Purpura | 27 / 7739 | ||||
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(HPO:0001933) | Subcutaneous hemorrhage | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0001695) | Cardiac arrest | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0011029) | Internal hemorrhage | Occasional [Orphanet] | 4 / 7739 | |||
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(HPO:0011675) | Arrhythmia | Occasional [Orphanet] | 226 / 7739 | |||
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(HPO:0012089) | Arteritis | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0002170) | Intracranial hemorrhage | Occasional [Orphanet] | 40 / 7739 | |||
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(HPO:0001878) | Hemolytic anemia | Frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0002665) | Lymphoma | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0001909) | Leukemia | Occasional [Orphanet] | 46 / 7739 | |||
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(HPO:0011875) | Abnormal platelet morphology | Very frequent [Orphanet] | 8 / 7739 | |||
|
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(HPO:0003010) | Prolonged bleeding time | Frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | Very frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0001935) | Microcytic anemia | Frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0001903) | Anemia | Frequent [Orphanet] | 289 / 7739 | |||
|
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(HPO:0011869) | Abnormal platelet function | Occasional [Orphanet] | 12 / 7739 | |||
|
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(HPO:0001874) | Abnormality of neutrophils | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0005537) | Decreased mean platelet volume | 7 / 7739 | ||||
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(HPO:0001945) | Fever | Very frequent [Orphanet] | 218 / 7739 | |||
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(HPO:0002088) | Abnormality of lung morphology | Occasional [Orphanet] | 11 / 7739 | |||
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(HPO:0006510) | Chronic obstructive pulmonary disease | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Very frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0100806) | Sepsis | Occasional [Orphanet] | 48 / 7739 | |||
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(HPO:0002960) | Autoimmunity | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0010515) | Aplasia/Hypoplasia of the thymus | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Occasional [Orphanet] | 275 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|