ORPHA:906
Wiskott-Aldrich syndrome
Synonyms: Eczema-thrombocytopenia-immunodeficiency syndrome · WAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wiskott-Aldrich syndrome | Eczema-thrombocytopenia-immunodeficiency syndrome · WAS |
| fr | Syndrome de Wiskott-Aldrich | Syndrome d'eczéma-thrombocytopénie-immunodéficience |
| de | Wiskott-Aldrich-Syndrom | Immundefekt kombiniert mit Thrombozytopenie und Ekzem |
| es | Síndrome de Wiskott-Aldrich | Síndrome de eczema-trombocitopenia-inmunodeficiencia · WAS |
| it | Sindrome di Wiskott-Aldrich | Sindrome eczema-trombocitopenia-immunodeficienza · WAS |
| nl | Syndroom van Wiskott-Aldrich | Eczeem - trombocytopenie - immuundeficiëntie-syndroom · WAS |
| pt | Síndrome Wiskott-Aldrich | Síndrome de eczema-trombocitopenia-imunodeficiência |
| pl | Zespół Wiskotta i Aldricha | WAS · Zespół egzema-trombocytopenia-Niedobór odporności |
| cs | Wiskottův-Aldrichův syndrom | Syndrom zahrnující ekzém, trombocytopenii a imunodeficienci · WAS · Wiskott-Aldrichův syndrom |
| uk | Синдром Віскотта-Олдрича | Синдром екземи-тромбоцитопенії-імунодефіциту · WAS |
| zh | Wiskott-Aldrich综合征 | 湿疹-血小板减少-免疫缺陷综合征 |
| tr | Wiskott-Aldrich sendromu | WAS · Egzama-trombositopeni-immün yetmezlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301000 | E | validated | |
| OMIM | 600903 | BTNT | validated | |
| ICD-10 | D82.0 | E | specific | validated |
| ICD-11 | 3B62.0Y | NTBT | index | validated |
| MONDO | 0010518 | E | validated | |
| MeSH | D014923 | E | validated | |
| UMLS | C0043194 | E | validated | |
| GARD | 7895 | E | validated | |
| MedDRA | 10047992 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:98456Dense granule disease
rare genetic diseases; rare hematological diseases - ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WAS | Disease-causing germline mutation(s) in | Assessed | HGNC:12731 | ENSG00000015285 | 300392 | Xp11.23 | WASP actin nucleation promoting factor |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2012[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.18 / 100 000 | France | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Switzerland | Value and class | Validated | 3065352[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.55 / 100 000 | Norway | Value and class | Not yet validated | 11202238[PMID]_ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | Australia | Value and class | Validated | 9314356[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Korea, Republic of | Value and class | Validated | 22787376[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | United States | Value and class | Validated | 7381651[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0278 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
57 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011875 | Abnormal platelet morphology | |
| HP:0000978 | Bruising susceptibility | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000389 | Chronic otitis media | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0001945 | Fever | |
| HP:0002721 | Immunodeficiency | |
| HP:0011029 | Internal hemorrhage | |
| HP:0001888 | Lymphopenia | |
| HP:0000388 | Otitis media | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000246 | Sinusitis | |
| HP:0007420 | Spontaneous hematomas | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001879 | Abnormality of eosinophils | |
| HP:0001903 | Anemia | |
| HP:0011675 | Arrhythmia | |
| HP:0002960 | Autoimmunity | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0002248 | Hematemesis | |
| HP:0002573 | Hematochezia | |
| HP:0001878 | Hemolytic anemia | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0001935 | Microcytic anemia | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0011869 | Abnormal platelet function | |
| HP:0000140 | Abnormality of the menstrual cycle | |
| HP:0002488 | Acute leukemia | |
| HP:0001369 | Arthritis | |
| HP:0000498 | Blepharitis | |
| HP:0100749 | Chest pain | |
| HP:0005558 | Chronic leukemia | |
| HP:0000509 | Conjunctivitis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000421 | Epistaxis | |
| HP:0000225 | Gingival bleeding | |
| HP:0100820 | Glomerulopathy | |
| HP:0100774 | Hyperostosis | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0000491 | Keratitis | |
| HP:0002665 | Lymphoma | |
| HP:0001287 | Meningitis | |
| HP:0002664 | Neoplasm | |
| HP:0000112 | Nephropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0006535 | Recurrent intrapulmonary hemorrhage | |
| HP:0100806 | Sepsis | |
| HP:0200042 | Skin ulcer | |
| HP:0001645 | Sudden cardiac death | |
| HP:0001025 | Urticaria | |
| HP:0002633 | Vasculitis | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/906
- This record as JSON: /data/d/906.json