ORPHA:708014
Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome | |
| fr | Syndrome de dysplasie ectodermique-dents de naissance-abcès cutané-hyperkératose plantaire-déficience auditive | |
| de | Ektodermale Dysplasie-natale Zähne-Hautabszesse-plantare Hyperkeratose-Hörbehinderung-Syndrom | |
| es | Síndrome de displasia ectodérmica-dientes natales-abscesos cutáneos-hiperqueratosis plantar-discapacidad auditiva | |
| it | Sindrome displasia ectodermica-denti neonatali-ascessi cutanei-ipercheratosi plantare-ipoacusia | |
| nl | Ectodermale dysplasie - natale gebitselementen - huidabcessen - plantaire hyperkeratose - gehoorverlies-syndroom | |
| pt | Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment | |
| pl | Zespół dyplazji ektodermalnej, wrodzonych zębów, ropni skóry, hiperkeratozy podeszwowej i niedosłuchu | |
| cs | Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:6121 | ENSG00000117595 | 607199 | 1q32.2 | interferon regulatory factor 6 | 39902929[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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/708014
- This record as JSON: /data/d/708014.json