ORPHA:330029
Hypotrichosis-deafness syndrome
Synonyms: Hypotrichosis-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotrichosis-deafness syndrome | Hypotrichosis-hearing loss syndrome |
| fr | Syndrome d'hypotrichose-surdité | |
| de | Hypotrichose-Schwerhörigkeit-Syndrom | |
| es | Síndrome de hipotricosis-sordera | Síndrome de hipotricosis-hipoacusia |
| it | Sindrome ipotricosi-sordità | |
| nl | Hypotrichose-doofheid syndroom | |
| pt | Síndrome de hipotricose-surdez | |
| pl | Zespół hipotrichoza-głuchota | = en |
| cs | Syndrom zahrnující hypotrichózu a hluchotu | = en |
| uk | Синдром гіпотрихозу-глухоти | Синдром гіпотрихозу - приглухуватості |
| zh | 稀毛-耳聋综合征 | 稀毛-听力丧失综合征 |
| tr | Hipotrikoz-sağırlık sendromu | Hipotrikoz-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H90.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | attributed | validated |
| MONDO | 0018021 | E | validated | |
| UMLS | C5190988 | 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 (5):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:308166Erythrokeratoderma variabilis progressiva
rare genetic diseases; rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin 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 | 1 cases | Worldwide | Case(s) | Validated | 16280295[PMID] | |
| 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/330029
- This record as JSON: /data/d/330029.json