ORPHA:1006
Alopecia antibody deficiency
historical
Synonyms: Ipp-Gelfand syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alopecia antibody deficiency | Ipp-Gelfand syndrome |
| fr | Syndrome d'alopécie-déficit immunitaire | |
| de | Alopezie mit Antikörper-Mangel | Ipp-Gelfand-Syndrom |
| es | Alopecia-deficiencia de anticuerpos | Síndrome de Ipp-Gelfand |
| it | Alopecia e deficit di anticorpi | |
| nl | Alopecie met antilichaamdeficiëntie | Syndroom van Ipp-Gelfand |
| pt | Alopecia e deficiência de anticorpos | Síndrome Ipp-Gelfand |
| pl | Łysienie z niedoborem przeciwciał | = en |
| cs | Alopecie s deficitem protilátek | = en |
| uk | Дефіцит антитіл з алопецією | Синдром Іппа-Гельфанда |
| zh | 脱发抗体缺乏症 | Ipp-Gelfand综合征 |
| tr | Alopesi antikor eksikliği | Ipp-Gelfand sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D80.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | attributed | validated |
| MONDO | 0015082 | E | validated | |
| UMLS | C5190867 | 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 (2):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:101977Immunodeficiency due to predominantly antibodies defect
rare genetic diseases; rare immunological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 978318[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_978318[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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002721 | Immunodeficiency | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002231 | Sparse body hair | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0011073 | Abnormality of dental color | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0004322 | Short stature | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1006
- This record as JSON: /data/d/1006.json