Woodhouse-sakati syndrome

Preferred Label : Woodhouse-sakati syndrome;

Symbol : WDSKS;

CISMeF acronym : WDSKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; Hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; WSS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DDB1- and CUL4-associated factor 17 gene (DCAF17, 612515.0001);

Laboratory abnormalities : Decreased testosterone; Decreased estradiol; Hyperlipidemia; Decreased thyroxine (T4); Increased thyroid-stimulating hormone (TSH); Decreased serum insulin-like growth factor 1 (IGF1);

Prefixed ID : #241080;

Details

Origin ID

241080;

UMLS CUI

C0342286;

Automatic exact mappings (from CISMeF team)
- DDB1 and CUL4 associated factor 17 [ORDO Gene]
- DDB1 and CUL4 associated factor 17 [HGNC gene]
Currated CISMeF NLP mapping
- Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) [SNOMED CT concept]
- Woodhouse Sakati syndrome [Disease (Nov.)]
- Woodhouse Sakati syndrome [MeSH concept]
- Woodhouse-Sakati syndrome [ICD-11 More detail]
- Woodhouse-Sakati syndrome [MedDRA Preferred Term]
- Woodhouse-Sakati syndrome [DO Concept]
- Woodhouse-Sakati syndrome [ORDO Disease]
- woodhouse sakati syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Ddb1- and cul4-associated factor 17 [OMIM gene]
HPO term(s)
- Abnormal T-wave [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Alopecia [HPO term]
- Anodontia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Choreoathetosis [HPO term]
- Decreased serum insulin-like growth factor 1 [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Decreased testicular size [HPO term]
- Diabetes mellitus [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Elevated circulating thyroid-stimulating hormone concentration [HPO term]
- Fine hair [HPO term]
- Hallucinations [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperlipidemia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hypoplasia of the fallopian tube [HPO term]
- Hypoplasia of the uterus [HPO term]
- Intellectual disability [HPO term]
- Micropenis [HPO term]
- Premature ovarian insufficiency [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding ear [HPO term]
- Psychosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Woodhouse-Sakati syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) [SNOMED CT concept]
- Woodhouse Sakati syndrome [MeSH concept]
- Woodhouse Sakati syndrome [Disease (Nov.)]
- Woodhouse-Sakati syndrome [ORDO Disease]
- Woodhouse-Sakati syndrome [MedDRA Preferred Term]
- woodhouse sakati syndrome [MeSH Supplementary Concept]

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