ORPHA:726452
Combined immunodeficiency with early gray hairing
Synonyms: Primary antibody deficiency/CID due to IRF4 neomorphic mutation · CID with early gray hairing
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- 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 | Combined immunodeficiency with early gray hairing | Primary antibody deficiency/CID due to IRF4 neomorphic mutation · CID with early gray hairing |
| fr | Déficit immunitaire combiné avec blanchiment précoce des cheveux | CID avec blanchiment précoce des cheveux · DIC avec blanchiment précoce des cheveux · Immunodéficience combinée avec blanchiment précoce des cheveux · Déficit immunitaire combiné/déficit de production d'anticorps dû à une mutation néomorphique d'IRF4 |
| de | Kombinierter Immundefekt mit frühzeitigem Ergrauen der Haare | Primärer Antikörpermangel/Kombinierter Immundefekt durch neomorphe IRF4-Mutation |
| es | Inmunodeficiencia combinada con canicie prematura | CID con canicie prematura · IDC con canicie prematura · Deficiencia primaria de anticuerpos/IDC por una mutación neomórfica del gen IRF4 |
| it | Immunodeficienza combinata con incanutimento precoce | CID con incanutimento precoce · Deficit primitivo di anticorpi/CID da mutazione neomorfa di IRF4 |
| nl | Gecombineerde immuundeficiëntie met premature vergrijzing van haar | CID met premature vergrijzing van haar |
| pt | Combined immunodeficiency with early gray hairing | |
| pl | Combined immunodeficiency with early gray hairing | = en |
| cs | Combined immunodeficiency with early gray hairing | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621097 | NTBT | 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 (3):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6119 | ENSG00000137265 | 601900 | 6p25.3 | interferon regulatory factor 4 | 36917008[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 36917008[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36917008[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/726452
- This record as JSON: /data/d/726452.json