ORPHA:85295
HSD10 disease, atypical type
Synonyms: HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10 · X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy
- Status
- active
This disease is described under HSD10 disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HSD10 disease, atypical type | HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10 · X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome |
| fr | Maladie HSD10 type atypique | Déficience intellectuelle liée à l'X syndromique type 10 · Déficit en HSD10 atypique · Syndrome de déficience intellectuelle liée à l'X-choréoathétose-comportement anormal |
| de | HSD10-Krankheit, atypische Form | HSD10-Defizienz, atypische · HSD17B10-Defizienz · Syndromale Intelligenzminderung mit Choreoathetose und Verhaltensstörung · X-chromosomale syndromale Intelligenzminderung Typ 10 |
| es | Enfermedad HSD10 tipo atípico | Deficiencia de HSD10 tipo atípico · Discapacidad intelectual sindrómica ligada al cromosoma X tipo 10 · Síndrome de discapacidad intelectual-coreoatetosis-trastorno de conducta ligado al cromosoma X |
| it | Malattia HSD10, forma atipica | Deficit di HSD10, forma atipica · Disabilità intellettiva sindromica legata all'X, tipo 10 · Sindrome disabilità intellettiva legata all'X - coreatetosi - disturbi del comportamento · Sindrome disabilità intellettiva legata all'X-coreatetosi-disturbi del comportamento |
| nl | HSD10-ziekte, atypisch type | HSD10-deficiëntie, atypisch type · Syndromale X-gebonden intellectuele achterstand type 10 · X-gebonden intellectuele achterstand - choreoathetose - abnormaal gedrag-syndroom |
| pt | Doença HSD10, forma atípica | Deficiência de HSD10, forma atípica · Perturbação do desenvolvimento intelectual sindromática ligada ao X tipo 10 · Síndrome de perturbação do desenvolvimento intelectual-coreoatetose-alterações do comportamento ligada ao X |
| pl | Choroba HSD10, typ atypowy | Niedobór HSD10, typ atypowy · Niepełnosprawność intelektualna sprzężona z chromosomem X - choreoatetoza - nienormalne zachowanie · Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X typu 10 |
| cs | HSD10 nemoc, atypický typ | HSD10 deficit, atypický typ · Syndromická X-vázaná mentální retardace, typ 10 · X-vázaný syndrom zahrnující mentální retardaci, choreoatetózu a abnormální chování |
| uk | Хвороба HSD10, атиповий тип | Дефіцит HSD10, атиповий тип · Синдромальна Х-зчеплена розумова відсталість, тип 10 · Х-зчеплений синдром розумової відсталості - хореоатетозу - аномальної поведінки |
| zh | 非典型17β-羟类固醇脱氢酶10缺陷症 | X连锁智力障碍-舞蹈手足徐动-行为异常综合征 |
| tr | HSD10 hastalığı, atipik tip | HSD10 eksikliği, atipik tip · Sendromik X'e bağlı zihinsel yetersizlik türü 10 · X'e bağlı zihinsel yetersizlik-koreoatetoz-anormal davranış sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300438 | NTBT | validated | |
| ICD-10 | G25.5 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | attributed | validated |
| MONDO | 0037149 | E | validated | |
| UMLS | C5680206 | 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:391417HSD10 disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD17B10 | Disease-causing germline mutation(s) in | Assessed | HGNC:4800 | ENSG00000072506 | 300256 | Xp11.22 | hydroxysteroid 17-beta dehydrogenase 10 | 22127393[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 27306202[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ 27306202[PMID] |
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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000708 | Atypical behavior | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85295
- This record as JSON: /data/d/85295.json