ORPHA:189
Hidrotic ectodermal dysplasia
Synonyms: Clouston syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hidrotic ectodermal dysplasia | Clouston syndrome |
| fr | Dysplasie ectodermique hidrotique | Syndrome de Clouston |
| de | Dysplasie, ektodermale hidrotische | Clouston-Syndrom |
| es | Displasia ectodérmica hidrótica | Síndrome de Clouston |
| it | Displasia ectodermica idrotica | Sindrome di Clouston |
| nl | Hidrotische ectodermale dysplasie | Syndroom van Clouston |
| pt | Displasia ectodérmica hidrótica | Síndrome Clouston |
| pl | Dysplazja ektodermalna typu hidrotycznego | Zespół Cloustona |
| cs | Hidrotická ektodermální dysplázie | Cloustonův syndrom |
| uk | Гідротична ектодермальна дисплазія | Синдром Клустона |
| zh | 有汗型外胚层发育不良 | Clouston综合征 |
| tr | Hidrotik ektodermal displazi | Clouston sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129500 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.03 | E | specific | validated |
| MONDO | 0007510 | E | validated | |
| UMLS | C0162361 | E | validated | |
| GARD | 2056 | 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 (4):
- ORPHA:98352Autosomal dominant 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4288 | ENSG00000121742 | 604418 | 13q12.11 | gap junction protein beta 6 | 11017065[PMID]_11874494[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Not yet 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
27 annotations · validated 2021-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0008404 | Nail dystrophy | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0011911 | Abnormality of metacarpophalangeal joint | |
| HP:0002221 | Absent axillary hair | |
| HP:0002223 | Absent eyebrow | |
| HP:0002555 | Absent pubic hair | |
| HP:0001798 | Anonychia | |
| HP:0004779 | Brittle scalp hair | |
| HP:0100759 | Clubbing of fingers | |
| HP:0031288 | Cobblestone-like hyperkeratosis | |
| HP:0002213 | Fine hair | |
| HP:0004528 | Generalized hypotrichosis | |
| HP:0000365 | Hearing impairment | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0008383 | Slow-growing nails | |
| HP:0001792 | Small nail | |
| HP:0002215 | Sparse axillary hair | |
| HP:0002225 | Sparse pubic hair | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001072 | Thickened skin | |
Annotation source: 32843087[PMID]_20301379[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/189
- This record as JSON: /data/d/189.json