ORPHA:1014
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Synonyms: Devriendt-Vandenberghe-Fryns syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | Devriendt-Vandenberghe-Fryns syndrome |
| fr | Syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope | Syndrome de Devriendt-Vendenberghe-Fryns |
| de | Alopezie-Intelligenzminderung-hypergonadotroper Hypogonadismus-Syndrom | Devriendt-Vendenberghe-Fryns-Syndrom |
| es | Síndrome de alopecia-discapacidad intelectual-hipogonadismo hipergonadotrópico | Síndrome de Devriendt-Vandenberghe-Fryns |
| it | Sindrome alopecia-disabilità cognitiva-ipogonadismo ipergonadotropo | Sindrome di Devriendt-Van den Berghe-Fryns · Sindrome di Devriendt-VandenBerghe-Fryns |
| nl | Alopecie - intellectuele achterstand - hypergonadotroop hypogonadisme-syndroom | Syndroom van Devriendt-Vandenberghe-Fryns |
| pt | Síndrome de alopecia-perturbação do desenvolvimento intelectual-hipogonadismo hipergonadotrópico | Síndrome Devriendt-Vandenberghe-Fryns |
| pl | Zespół łysienia, niepełnosprawności intelektualnej i hipogonadyzmu hipergonadotropowego | Zespół Devriendta, Vandenberghe'a i Frynsa |
| cs | Syndrom zahrnující alopecii, mentální retardaci a hypergonadotropní hypogonadismus | Devriendtův-Vanderbergheho-Frynsův syndrom · Devriendt-Vanderberghe-Frynsův syndrom |
| uk | Синдром алопеції-інтелектуальної недостатності-гіпергонадотропного гіпогонадизму | Синдром Девріндта-Ванденберге-Фринса |
| zh | 脱发-智力障碍-高促性腺激素性性腺机能减退综合征 | Devriendt-Vandenberghe-Fryns综合征 |
| tr | Alopesi-zihinsel yetersizlik-hipergonadotropik hipogonadizm sendromu | Devriendt-Vandenberghe-Fryns sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601217 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011019 | E | validated | |
| UMLS | C4303740 | 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 (4):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 2 cases | Worldwide | Case(s) | Validated | 8721564[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8721564[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007418 | Alopecia totalis | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1014
- This record as JSON: /data/d/1014.json