ORPHA:79499
Autosomal dominant deafness-onychodystrophy syndrome
Synonyms: Autosomal dominant hearing loss-onychodystrophy syndrome · DDOD syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant deafness-onychodystrophy syndrome | Autosomal dominant hearing loss-onychodystrophy syndrome · DDOD syndrome |
| fr | Syndrome de surdité-onychodystrophie autosomique dominant | Syndrome DDOD |
| de | Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes | DDOD-Syndrom |
| es | Síndrome de sordera-onicodistrofia autosómica dominante | Síndrome DDOD · Síndrome de hipoacusia-onicodistrofia autosómica dominante |
| it | Sindrome sordità-onicodistrofia, autosomica dominante | Sindrome DDOD |
| nl | Austosomaal dominant doofheid - onychodystrofie-syndroom | DDOD-syndroom |
| pt | Surdez-onicodistrofia autossómica dominante | |
| pl | Zepół autosomalnie dominującej głuchoty i onychodystrofii | Zespół DDOD |
| cs | Autozomálně dominantní syndrom zahrnující hluchotu a onychodystrofii | DDOD syndrom |
| uk | Аутосомно-домінантний синдром глухоти-оніходистрофії | Синдром аутосомно-домінантної приглухуватості-оніходистрофії · Синдром DDOD |
| zh | 常染色体显性耳聋-指甲营养不良综合征 | 常染色体显性遗传性听力丧失-甲营养不良综合征 |
| tr | Otozomal dominant sağırlık-onikodistrofi sendromu | DDOD sendromu · Otozomal dominant işitme kaybı onikodistrofi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124480 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007420 | E | validated | |
| MeSH | C567274 | E | validated | |
| UMLS | C2675730 | E | validated | |
| GARD | 4732 | 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 (1):
- ORPHA:3231Deafness-onychodystrophy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare ophthalmic disorders; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP6V1B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:854 | ENSG00000147416 | 606939 | 8p21.3 | ATPase H+ transporting V1 subunit B2 | 24913193[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT] |
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
20 annotations · validated 2019-03-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001802 | Absent toenail | |
| HP:0008386 | Aplasia/Hypoplasia of the nails | |
| HP:0000677 | Oligodontia | |
| HP:0001199 | Triphalangeal thumb | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0200104 | Absent fifth fingernail | |
| HP:0012554 | Absent thumbnail | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0000268 | Dolichocephaly | |
| HP:0000348 | High forehead | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001249 | Intellectual disability | |
| HP:0001763 | Pes planus | |
| HP:0002465 | Poor speech | |
| HP:0001250 | Seizure | |
| HP:0009778 | Short thumb | |
| HP:0200141 | Small, conical teeth | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24421866[PMID]_24913193[PMID]_28396750[PMID]_21998865[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79499
- This record as JSON: /data/d/79499.json