Pure hair and nail ectodermal dysplasia
Synonyms: HNED · Hair-nail ectodermal dysplasia · PHNED
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pure hair and nail ectodermal dysplasia | HNED · Hair-nail ectodermal dysplasia · PHNED |
| fr | Dysplasie ectodermique pure des ongles et des cheveux | HNED · PHNED |
| de | Dysplasie, ektodermale, reiner Haar-Nagel-Typ | HNED |
| es | Displasia ectodérmica pura de cabello-uña | Displasia ectodérmica cabello-uña · HNED |
| it | Displasia ectodermica pura dei capelli e delle unghie | Displasia ectodermica capelli-unghie · HNED |
| nl | Zuivere ectodermale dysplasie van haar en nagel | HNED · Haar-nagel ectodermale dysplasie |
| pt | Displasia ectodérmica 'pura' tipo cabelo-unha | |
| pl | Dysplazja ektodermalna włosów i paznokci | Dysplazja ektodermalna włosy-paznokcie · HNED · PHNED |
| cs | Ektodermální dysplázie postihující pouze vlasy a nehty | HNED · Vlasonehtová ektodermální dysplázie · PHNED |
| uk | Ектодермальна дисплазія обмежена волоссям та нігтями | Ектодермальна дисплазія волосся та нігтів · HNED · PHNED |
| zh | 单纯毛发及指甲外胚层发育不良 | 头发-甲外胚层发育不良 |
| tr | Saf saç ve tırnak ektodermal displazi | HNED · PHNED · Saç-tırnak ektodermal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602032 | BTNT | validated | |
| OMIM | 614927 | BTNT | validated | |
| OMIM | 614928 | BTNT | validated | |
| OMIM | 614929 | BTNT | validated | |
| OMIM | 614931 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0019071 | E | validated | |
| MeSH | C566592 | E | validated | |
| UMLS | C4024880 | 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 (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXC13 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5125 | ENSG00000123364 | 142976 | 12q13.13 | homeobox C13 | 23063621[PMID] |
| KRT74 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28929 | ENSG00000170484 | 608248 | 12q13.13 | keratin 74 | 24714551[PMID] |
| KRT85 | Disease-causing germline mutation(s) in | Assessed | HGNC:6462 | ENSG00000135443 | 602767 | 12q13.13 | keratin 85 | 16525032[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69084
- This record as JSON: /data/d/69084.json