ORPHA:3464
Woodhouse-Sakati syndrome
Synonyms: Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Woodhouse-Sakati syndrome | Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome |
| fr | Syndrome de Woodhouse-Sakati | Syndrome de diabète-hypogonadisme-surdité-déficience intellectuelle |
| de | Woodhouse-Sakati-Syndrom | Diabetes-Hypogonadismus-Taubheit-Intelligenzminderung-Syndrom |
| es | Síndrome de Woodhouse-Sakati | Síndrome de diabetes-hipogonadismo-hipoacusia-discapacidad intelectual · Síndrome de diabetes-hipogonadismo-sordera-discapacidad intelectual |
| it | Sindrome di Woodhouse-Sakati | Sindrome diabete-ipogonadismo-sordità-disabilità intellettiva · Diabete - ipogonadismo - sordità - ritardo mentale |
| nl | Syndroom van Woodhouse-Sakati | Diabetes - hypogonadisme - doofheid - intellectuele achterstand-syndroom · Diabetes - hypogonadisme - gehoorverlies - intellectuele achterstand-syndroom |
| pt | Síndrome Woodhouse-Sakati | Síndrome de diabetes-hipogonadismo-perda auditiva-perturbação do desenvolvimento intelectual · Síndrome de diabetes-hipogonadismo-surdez-perturbação do desenvolvimento intelectual |
| pl | Zespół Woodhouse'a i Sakati | Cukrzyca - hipogonadyzm - głuchota - niepełnosprawność intelektualna |
| cs | Woodhouseův-Sakatiův syndrom | Syndrom zahrnující diabetes, hypogonadismus, hluchotu a mentální retardaci · Woodhouse-Sakatiův syndrom |
| uk | Синдром Вудхауза-Сакаті | Синдром діабету-гіпогонадизму-глухоти-інтелектуальної недостатності · Синдром діабету-гіпогонадизму-втрати слуху- інтелектуальної недостатності |
| zh | Woodhouse-Sakati综合征 | 糖尿病-性腺功能减退-听力丧失-智力障碍综合征 |
| tr | Woodhouse-Sakati sendromu | Diyabet-hipogonadizm-sağırlık-zihinsel yetersizlik sendromu · Diyabet-hipogonadizm-işitme kaybı-zihinsel yetersizlik sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241080 | E | validated | |
| ICD-10 | G23.8 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0009419 | E | validated | |
| MeSH | C536742 | E | validated | |
| UMLS | C0342286 | E | validated | |
| GARD | 5592 | E | validated | |
| MedDRA | 10082379 | 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 (7):
- ORPHA:385Neurodegeneration with brain iron accumulation
rare genetic diseases; rare neurological diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1011Alopecia-hypogonadism-extrapyramidal syndrome moved to · inactive
- ORPHA:2676Neuroectodermal-endocrine syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCAF17 | Disease-causing germline mutation(s) in | Assessed | HGNC:25784 | ENSG00000115827 | 612515 | 2q31.1 | DDB1 and CUL4 associated factor 17 | 29574468[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 families | Worldwide | Family(ies) | Validated | 18175354[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18175354[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.
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HPO phenotypes
35 annotations · validated 2016-12-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0008669 | Abnormal spermatogenesis | |
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001266 | Choreoathetosis | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001510 | Growth delay | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000135 | Hypogonadism | |
| HP:0008697 | Hypoplasia of the fallopian tube | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000821 | Hypothyroidism | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001268 | Mental deterioration | |
| HP:0000054 | Micropenis | |
| HP:0000938 | Osteopenia | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000411 | Protruding ear | |
| HP:0010464 | Streak ovary | |
| Occasional (29-5%) | ||
| HP:0000674 | Anodontia | |
| HP:0000738 | Hallucinations | |
| HP:0000448 | Prominent nose | |
| HP:0000709 | Psychosis | |
| HP:0040189 | Scaling skin | |
| HP:0000325 | Triangular face | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 6876115[PMID]_8779325[PMID]_17167799[PMID]_19026396[PMID]_20507343[PMID]_1442893[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3464
- This record as JSON: /data/d/3464.json