Odonto-onycho-dermal dysplasia
Synonyms: OODD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odonto-onycho-dermal dysplasia | OODD |
| fr | Dysplasie odonto-onychodermique | DOOD · OODD |
| de | Dysplasie, odonto-onycho-dermale | = en |
| es | Displasia odonto-ónico-dérmica | = en |
| it | Displasia odonto-onico-dermica | = en |
| nl | Odonto-onycho-dermale dysplasie | = en |
| pt | Displasia ondonto-onico-cutânea | |
| pl | Dysplazja zębowo-paznokciowo-skórna | = en |
| cs | Odontoonychodermální dysplázie | = en |
| uk | Одонтооніходермальна дисплазія | = en |
| zh | 牙-指甲-表皮发育不良 | OODD综合征 |
| tr | Odonto-oniko-dermal displazi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257980 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009773 | E | validated | |
| MeSH | C537742 | E | validated | |
| UMLS | C0796093 | E | validated | |
| GARD | 4054 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT10A | Disease-causing germline mutation(s) in | Assessed | HGNC:13829 | ENSG00000135925 | 606268 | 2q35 | Wnt family member 10A | 17847007[PMID]_24458874[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 26964878[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26964878[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2721
- This record as JSON: /data/d/2721.json