ORPHA:714493
Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
Synonyms: Congenital thrombocytopenia-recurrent infections syndrome due to WAS protein-interacting protein deficiency · Congenital thrombocytopenia-recurrent infections syndrome due to Wiskott-Aldrich syndrome protein-interacting protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency | Congenital thrombocytopenia-recurrent infections syndrome due to WAS protein-interacting protein deficiency · Congenital thrombocytopenia-recurrent infections syndrome due to Wiskott-Aldrich syndrome protein-interacting protein deficiency |
| fr | Syndrome de thrombocytopénie congénitale-infections récurrentes par déficit en WIP | Syndrome de thrombocytopénie congénitale-infections récurrentes dû à un déficit en protéine interagissant avec la protéine WAS · Syndrome de thrombocytopénie congénitale-infections récurrentes dû à un déficit en protéine interagissant avec la protéine du syndrome de Wiskott-Aldrich |
| de | Kongenitale Thrombozytopenie-rezidivierende Infektionen-Syndrom durch WIP-Defizienz | Angeborene Thrombozytopenie mit rezidivierenden Infektionen durch Mangel an WAS-Protein-interagierendem Protein |
| es | Síndrome de trombocitopenia congénita-infecciones recurrentes por deficiencia de WIP | Síndrome de trombocitopenia congénita-infecciones recurrentes por deficiencia de la proteína de interacción con WAS · Síndrome de trombocitopenia congénita-infecciones recurrentes por deficiencia de la proteína de interacción con la proteína del síndrome de Wiskott-Aldrich |
| it | Sindrome trombocitopenia congenita-infezioni ricorrenti da deficit di WIP | Sindrome trombocitopenia congenita-infezioni ricorrenti da deficit della proteina WAS interagente con la proteina · Sindrome trombocitopenia congenita-infezioni ricorrenti da deficit della proteina interagente con la proteina della sindrome di Wiskott-Aldrich |
| nl | Congenitale trombocytopenie - recidiverende infecties-syndroom door WIP-deficiëntie | Congenitale trombocytopenie - recidiverende infecties-syndroom door deficiëntie van WAS-proteïne-interagerend proteïne · Congenitale trombocytopenie - recidiverende infecties-syndroom door deficiëntie van Wiskott-Aldrich syndroom proteïne-interagerend proteïne |
| pt | Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency | |
| pl | Wrodzona małopłytkowość – zespół nawracających infekcji spowodowany niedoborem WIP | = en |
| cs | Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614493 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin 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 - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WIPF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12736 | ENSG00000115935 | 602357 | 2q31.1 | WAS/WASL interacting protein family member 1 | 22231303[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22231303[PMID]_27742395[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 22231303[PMID]_27742395[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/714493
- This record as JSON: /data/d/714493.json