WOODHOUSE-SAKATI SYNDROME

Question 1

What is  WOODHOUSE-SAKATI SYNDROME?

Accepted Answer

rare
autosomal recessive
mutation in the C2ORF37 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Woodhouse-Sakati-Syndrom; Diabetes mellitus - Hypogonadismus - Taubheit - geistige Retardierung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 241080

Question 4

Which enzymes are involved?

Accepted Answer

DDB1- and CUL4-associated factor 17

Disease	WOODHOUSE-SAKATI SYNDROME
Synonym	HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME
OMIM	241080 OMIM = Online Mendelian Inheritance of Men
Orphanet	3464
Protein (UniProt)	DDB1- and CUL4-associated factor 17
Gene locus	2q31.1
ICD	Q87.8
Summary	rare autosomal recessive mutation in the C2ORF37 gene
Laboratory findings	Insulin-like growth factor I(IGF-I) dec (serum) Testosterone dec (serum) Thyroid-stimulating hormone (TSH) inc (serum) Thyroxine (T4) dec (serum)
Symptoms	alopecia amenorrhea craniofacial anomalies diabetes mellitus dysarthria dystonia ECG abnormalities [-] extrapyramidal signs hair, abnormal (thin, brittle, fine) hearing defect, deafness hypogonadism hypothyroidism intellectual disability/intellectual developmental disorder mental retardation micropenis MRI, brain, abnormalities [-] onset, childhood ovarian failure psychosis