ORPHA:708043
Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, 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 with oligodontia-hand and foot malformation-hypoplastic nipples | |
| fr | Dysplasie ectodermique avec oligodontie-malformation des mains et pieds-hypoplasie des mamelons | |
| de | Ektodermale Dysplasie-Syndrom mit Oligodontie, Hand- und Fußfehlbildung und hypoplastische Brustwarzen | |
| es | Displasia ectodérmica con oligodoncia-malformación de manos y pies-pezones hipoplásicos | |
| it | Displasia ectodermica con oligodontia-malformazione delle mani e dei piedi-capezzoli ipoplasici | |
| nl | Ectodermale dysplasie met oligodontie - hand- en voetmalformatie - hypoplastische tepels | |
| pt | Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples | |
| pl | Dysplazja ektodermalna z oligodoncją, wadami rozwojowymi dłoni i stóp i niedorozwojem sutków | |
| cs | Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples |
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Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LEF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6551 | ENSG00000138795 | 153245 | 4q25 | lymphoid enhancer binding factor 1 | 32022899[PMID]_35583550[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 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/708043
- This record as JSON: /data/d/708043.json