ORPHA:181
X-linked hypohidrotic ectodermal dysplasia
Synonyms: Christ-Siemens-Touraine syndrome · XHED
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under Hypohidrotic ectodermal dysplasia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked hypohidrotic ectodermal dysplasia | Christ-Siemens-Touraine syndrome · XHED |
| fr | Dysplasie ectodermique hypohidrotique liée à l'X | Syndrome de Christ-Siemens-Touraine · XDEH · XHED |
| de | Dysplasie, ektodermale hypohidrotische, X-chromosomale | Christ-Siemens-Touraine-Syndrom · XHED |
| es | Displasia ectodérmica hipohidrótica ligada al cromosoma X | DEHX · Síndrome de Christ-Siemens-Touraine |
| it | Displasia ectodermica ipoidrotica legata all'X | Displasia ectodermica anidrotica legata all'X · Sindrome di Christ-Siemens-Touraine · XHED |
| nl | X-gebonden hypohidrotische ectodermale dysplasie | Syndroom van Christ-Siemens-Touraine · XHED |
| pt | Displasia ectodérmica hipohidrótica ligada ao X | Síndrome Christ-Siemens-Touraine · XHED |
| pl | Hipohydrotyczna dysplazja ektodermalna sprzężona z chromosomem X | Anhydrotyczna dysplazja ektodermalna sprzężona z chromosomem X · XHED · Zespół Christa, Siemensa i Touraine'a |
| cs | X-vázaná hypohidrotická ektodermální dysplázie | X-vázaná anhidrotická ektodermální dysplázie · XHED · Syndrom Christův-Siemensův-Tourainův · Syndrom Christ-Siemens-Tourainův |
| uk | Х-зчеплена гіпогідротична ектодермальна дисплазія | Синдром Кріста-Сіменса-Турена · XHED · Х-зчеплена ангідротична ектодермальна дисплазія |
| zh | X连锁少汗性外胚层发育不良 | X连锁无汗性外胚层发育不良 |
| tr | X'e bağlı hipohidrotik ektodermal displazi | XHED · Christ-Siemens-Touraine sendromu · X'e bağlı anhidrotik ektodermal displazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 305100 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.02 | NTBT | index | validated |
| MONDO | 0010585 | E | validated | |
| MeSH | D053358 | E | validated | |
| UMLS | C0162359 | E | validated | |
| GARD | 10427 | E | validated |
E 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 (1):
- ORPHA:238468Hypohidrotic ectodermal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders; rare odontological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EDA | Disease-causing germline mutation(s) in | Assessed | HGNC:3157 | ENSG00000158813 | 300451 | Xq13.1 | ectodysplasin A | |
| EDA2R | Disease-causing germline mutation(s) in | Assessed | HGNC:17756 | ENSG00000131080 | 300276 | Xq12 | ectodysplasin A2 receptor | 22889853[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 12.7 / 100 000 | Denmark | Value and class | Not yet validated | 23416623[PMID]_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.
6
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0010803 | Everted upper lip vermilion | |
| HP:0000966 | Hypohidrosis | |
| HP:0000691 | Microdontia | |
| HP:0002231 | Sparse body hair | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0002007 | Frontal bossing | |
| Occasional (29-5%) | ||
| HP:0000830 | Anterior hypopituitarism | |
| HP:0000822 | Hypertension | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/181
- This record as JSON: /data/d/181.json