Woodhouse-Sakati syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME
EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA
Diabetes - hypogonadism - deafness - intellectual deficit
Number of Symptoms 63
OrphanetNr: 3464
OMIM Id: 241080
ICD-10:
UMLs: C0342286
MeSH: C536742
MedDRA:
Snomed: 237616002

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance:
[Orphanet]
Age of onset: Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neurodegeneration with brain iron accumulation
 -Rare genetic disease
 -Rare neurologic disease
Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
Other rare diabetes mellitus
 -Rare endocrine disease
Rare disorder with dystonia and other neurologic or systemic manifestation
 -Rare neurologic disease
Rare genetic diabetes mellitus
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0001587) Primary ovarian failure 9 / 7739
2
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
3
 (HPO:0000135) Hypogonadism Very frequent [Orphanet] 89 / 7739
4
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
5
 (HPO:0000013) Hypoplasia of the uterus 21 / 7739
6
 (HPO:0000054) Micropenis 257 / 7739
7
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
8
 (HPO:0010464) Streak ovary 8 / 7739
9
 (HPO:0008697) Hypoplasia of the fallopian tube 3 / 7739
10
 (HPO:0008734) Decreased testicular size 105 / 7739
11
 (HPO:0002209) Sparse scalp hair Frequent [Orphanet] 59 / 7739
12
 (HPO:0000426) Prominent nasal bridge 121 / 7739
13
 (HPO:0000674) Anodontia 18 / 7739
14
 (HPO:0000325) Triangular face 91 / 7739
15
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
16
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
17
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
18
 (HPO:0000411) Protruding ear 140 / 7739
19
 (HPO:0009904) Prominent ear helix 8 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
21
 (HPO:0001270) Motor delay Very frequent [Orphanet] 322 / 7739
22
 (HPO:0001332) Dystonia 197 / 7739
23
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
24
 (HPO:0001266) Choreoathetosis 57 / 7739
25
 (HPO:0000709) Psychosis 61 / 7739
26
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
27
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] 853 / 7739
28
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] 1089 / 7739
29
 (HPO:0000738) Hallucinations 60 / 7739
30
 (HPO:0001260) Dysarthria 329 / 7739
31
 (HPO:0001328) Specific learning disability Very frequent [Orphanet] 114 / 7739
32
 (HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
33
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 44 / 7739
34
 (HPO:0000819) Diabetes mellitus 131 / 7739
35
 (HPO:0000823) Delayed puberty Very frequent [Orphanet] 65 / 7739
36
 (HPO:0004528) Generalized hypotrichosis Frequent [Orphanet] 18 / 7739
37
 (HPO:0008070) Sparse hair 94 / 7739
38
 (HPO:0002215) Sparse axillary hair Very frequent [Orphanet] 21 / 7739
39
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
40
 (HPO:0002289) Alopecia universalis 20 / 7739
41
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
42
 (HPO:0001596) Alopecia 162 / 7739
43
 (HPO:0002231) Sparse body hair Very frequent [Orphanet] 9 / 7739
44
 (HPO:0002213) Fine hair 77 / 7739
45
 (HPO:0001678) Atrioventricular block 59 / 7739
46
 (HPO:0011675) Arrhythmia Very frequent [Orphanet] 226 / 7739
47
 (HPO:0005135) EKG: T-wave abnormalities 19 / 7739
48
 (HPO:0003077) Hyperlipidemia 37 / 7739
49
 (OMIM) Atrophic seminiferous tubules 1 / 7739
50
 (OMIM) MRI shows white matter lesions 2 / 7739
51
 (OMIM) ECG shows flattened T waves 1 / 7739
52
 (OMIM) Alopecia, partial, primarily involving scalp and eyebrows 1 / 7739
53
 (OMIM) Decreased serum insulin-like growth factor 1 (IGF1) 3 / 7739
54
 (OMIM) Loss of eyebrow hair 1 / 7739
55
 (OMIM) Progressive cognitive decline following normal development in childhood (in some patients) 1 / 7739
56
 (OMIM) Decreased testosterone 2 / 7739
57
 (OMIM) Failure of secondary sexual development 1 / 7739
58
 (OMIM) Testicular biopsy shows hypospermatogenesis 1 / 7739
59
 (OMIM) MRI shows decreased signal intensities in the basal ganglia 1 / 7739
60
 (OMIM) Short, sparse, fine hair 1 / 7739
61
 (OMIM) Decreased estradiol 1 / 7739
62
 (OMIM) Hypogonadotropic hypergonadism 1 / 7739
63
 (MedDRA:10043816) Thyroxine decreased 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Woodhouse and Sakati (1983) reported a total of 7 Saudi Arabian individuals from 2 consanguineous families with a combination of hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness. The first family had 2 affected males and 2 ...
Molecular genetics OMIM In affected members of 2 Saudi families with Woodhouse-Sakati syndrome, including 1 of the original families described by Woodhouse and Sakati (1983), Alazami et al. (2008) identified homozygosity for a 1-bp deletion in the C2ORF37 gene (612515.0001); 6 ...