ORPHA:729781
Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome
Synonyms: Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural deafness syndrome · Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural deafness syndrome · Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural hearing loss syndrome · Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural hearing loss syndrome · Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome | Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural deafness syndrome · Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural deafness syndrome · Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural hearing loss syndrome · Congenital generalized alopecia-hypoplasia of kidneys-facial dysmorphism-sensorineural hearing loss syndrome · Congenital generalized alopecia-renal hypoplasia-facial dysmorphism-sensorineural hearing loss syndrome |
| fr | Syndrome d'alopécie congénitale généralisée-hypoplasie rénale-dysmorphie faciale-surdité | Syndrome d'alopécie congénitale généralisée-hypoplasie des reins-dysmorphie faciale-surdité · Syndrome d'alopécie congénitale généralisée-reins hypoplasiques-dysmorphie faciale-surdité |
| de | Kongenitale generalisierte Alopezie-hypoplastische Nieren-faziale Dysmorphie-sensorineurale Schwerhörigkeit-Syndrom | GKAF · Wachstumsverzögerung-hypoplastische Nieren- Alopezie-charakteristische Gesichtsmerkmale-Syndrom |
| es | Síndrome congénito de alopecia generalizada-hipoplasia renal-dismorfia facial-sordera neurosensorial | Síndrome congénito de alopecia generalizada-hipoplasia renal-dismorfia facial-hipoacusia neurosensorial |
| it | Sindrome alopecia generalizzata congenita-reni ipoplastici-dismorfismi facciali-sordità neurosensoriale | Sindrome alopecia generalizzata congenita-ipoplasia renale-dismorfismi facciali-perdita dell'udito neurosensoriale · Sindrome alopecia generalizzata congenita-ipoplasia dei reni-dismorfismi facciali-sordità neurosensoriale · Sindrome alopecia generalizzata congenita-ipoplasia renale-dismorfismi facciali-sordità neurosensoriale · Sindrome alopecia generalizzata congenita-reni ipoplastici-dismorfismi facciali- perdita dell'udito neurosensoriale · Sindrome alopecia generalizzata congenita-ipoplasia dei reni-dismorfismi facciali- perdita dell'udito neurosensoriale |
| nl | Congenitale gegeneraliseerde alopecie - hypoplastische nieren - faciale dysmorfie - sensorineurale doofheid-syndroom | Congenitale gegeneraliseerde alopecie - hypoplasie van nier - faciale dysmorfie - sensorineurale doofheid-syndroom · Congenitale gegeneraliseerde alopecie - hypoplasie van nier - faciale dysmorfie - sensorineuraal gehoorverlies-syndroom · Congenitale gegeneraliseerde alopecie - hypoplasie van nieren - faciale dysmorfie - sensorineurale doofheid-syndroom · Congenitale gegeneraliseerde alopecie - hypoplastische nieren - faciale dysmorfie - sensorineuraal gehoorverlies-syndroom · Congenitale gegeneraliseerde alopecie - hypoplasie van nieren - faciale dysmorfie - sensorineuraal gehoorverlies-syndroom |
| pt | Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome | |
| pl | Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome | = en |
| cs | Congenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619321 | 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: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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZPR1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13051 | ENSG00000109917 | 603901 | 11q23.3 | ZPR1 zinc finger | 29851065[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/729781
- This record as JSON: /data/d/729781.json