ORPHA:183494
Genetic immune deficiency with skin involvement
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic immune deficiency with skin involvement | |
| fr | Déficit immunitaire génétique avec atteinte cutanée | Immunodéficience génétique avec atteinte cutanée |
| de | Immundefekt mit Hautbeteiligung, genetisch bedingt | |
| es | Inmunodeficiencia genética con afectación cutánea | |
| it | Immunodeficienza genetica con coinvolgimento cutaneo | |
| nl | Genetische immuundeficiëntie met betrokkenheid van huid | |
| pt | Deficiência imune genética com envolvimento da pele | |
| pl | Niedobór odporności uwarunkowany genetycznie z udziałem skóry | |
| cs | Geneticky podmíněné imunodeficity s postižením kůže | |
| uk | Генетично обумовлений імунодефіцит з ураженням шкіри | |
| zh | 遗传性免疫缺陷伴皮肤受损 | |
| tr | Deri tutulumu ile seyreden genetik immün yetmezlik |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680569 | 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 (1):
- ORPHA:68346Rare genetic skin disease
rare genetic diseases
Children (20):
- ORPHA:83617Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ORPHA:656912Autosomal dominant combined immunodeficiency due to ERBIN deficiency
- ORPHA:2314Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- ORPHA:656326Autosomal recessive combined immunodeficiency due to IL6R deficiency
- ORPHA:656300Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
- ORPHA:641368Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
- ORPHA:379Chronic granulomatous disease
- ORPHA:1334Chronic mucocutaneous candidiasis
- ORPHA:167Chédiak-Higashi syndrome
- ORPHA:157949Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect
- ORPHA:714493Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
- ORPHA:658946Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
- ORPHA:314Erythroderma desquamativum
- ORPHA:79477Griscelli syndrome type 2
- ORPHA:1839Hereditary mucoepithelial dysplasia
- ORPHA:302Inherited epidermodysplasia verruciformis
- ORPHA:596759RELA haploinsufficiency-associated inflammatory disease
- ORPHA:51636WHIM syndrome
- ORPHA:568056Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
- ORPHA:906Wiskott-Aldrich syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/183494
- This record as JSON: /data/d/183494.json