WOSAS
MCID: WDH003
MIFTS: 32

Woodhouse-Sakati Syndrome (WOSAS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Woodhouse-Sakati Syndrome

MalaCards integrated aliases for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 58 77 25 54 26 76 38 13
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 26 30 6
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 58 26
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 58 26
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 54 26
Woodhouse Sakati Syndrome 54 74
Wss 26 76
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 54
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 26
Syndrome, Woodhouse-Sakati 41
Wdsks 58
Wosas 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset of mental impairment in early childhood
onset of other symptoms in adolescence or early adulthood
patients do not have clinical hypothyroidism


HPO:

33
woodhouse-sakati syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Woodhouse-Sakati Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3464Disease definitionWoodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.EpidemiologyApproximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far.Clinical descriptionThe onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.EtiologyWoodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function.Genetic counselingThe disease is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Woodhouse-Sakati Syndrome, also known as hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities, is related to wiedemann-steiner syndrome and acrocephalopolysyndactyly type iii, and has symptoms including abnormality of extrapyramidal motor function An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17). Affiliated tissues include ovary, thyroid and uterus, and related phenotypes are hypothyroidism and intellectual disability

Genetics Home Reference : 26 Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.

UniProtKB/Swiss-Prot : 76 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Wikipedia : 77 Woodhouse–Sakati syndrome, also called hypogonadism, alopecia, diabetes mellitus, intellectual... more...

Description from OMIM: 241080
GeneReviews:

Related Diseases for Woodhouse-Sakati Syndrome

Diseases related to Woodhouse-Sakati Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 wiedemann-steiner syndrome 11.1
2 acrocephalopolysyndactyly type iii 10.9
3 hypogonadism 10.4
4 hypogonadotropism 10.4
5 weaver syndrome 10.3
6 wrinkly skin syndrome 10.3
7 alopecia 10.3
8 diabetes mellitus 10.3
9 keratoconus 10.3
10 hypotrichosis 10.3
11 dystonia 10.3
12 intracranial aneurysm 10.2
13 pulmonary hypertension, primary, 1 10.0
14 thrombosis 10.0
15 aortic coarctation 10.0

Graphical network of the top 20 diseases related to Woodhouse-Sakati Syndrome:



Diseases related to Woodhouse-Sakati Syndrome

Symptoms & Phenotypes for Woodhouse-Sakati Syndrome

Human phenotypes related to Woodhouse-Sakati Syndrome:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 33 hallmark (90%) HP:0000821
2 intellectual disability 33 hallmark (90%) HP:0001249
3 dysarthria 33 hallmark (90%) HP:0001260
4 premature ovarian insufficiency 33 hallmark (90%) HP:0008209
5 alopecia 33 hallmark (90%) HP:0001596
6 dystonia 33 hallmark (90%) HP:0001332
7 protruding ear 33 occasional (7.5%) HP:0000411
8 hypergonadotropic hypogonadism 33 hallmark (90%) HP:0000815
9 decreased testicular size 33 hallmark (90%) HP:0008734
10 decreased serum testosterone level 33 hallmark (90%) HP:0040171
11 hyperlipidemia 33 hallmark (90%) HP:0003077
12 mental deterioration 33 hallmark (90%) HP:0001268
13 choreoathetosis 33 hallmark (90%) HP:0001266
14 aplasia/hypoplasia of the eyebrow 33 hallmark (90%) HP:0100840
15 abnormal spermatogenesis 33 hallmark (90%) HP:0008669
16 micropenis 33 hallmark (90%) HP:0000054
17 hypoplasia of the uterus 33 hallmark (90%) HP:0000013
18 decreased serum estradiol 33 hallmark (90%) HP:0008214
19 streak ovary 33 hallmark (90%) HP:0010464
20 insulin-resistant diabetes mellitus 33 hallmark (90%) HP:0000831
21 abnormal t-wave 33 hallmark (90%) HP:0005135
22 bilateral sensorineural hearing impairment 33 hallmark (90%) HP:0008619
23 hypoplasia of the fallopian tube 33 hallmark (90%) HP:0008697
24 hallucinations 33 occasional (7.5%) HP:0000738
25 prominent nasal bridge 33 occasional (7.5%) HP:0000426
26 psychosis 33 occasional (7.5%) HP:0000709
27 triangular face 33 occasional (7.5%) HP:0000325
28 prominent nose 33 occasional (7.5%) HP:0000448
29 anodontia 33 occasional (7.5%) HP:0000674
30 diabetes mellitus 33 HP:0000819
31 sensorineural hearing impairment 33 HP:0000407
32 hypogonadotrophic hypogonadism 33 HP:0000044
33 fine hair 33 HP:0002213
34 abnormality of extrapyramidal motor function 33 HP:0002071
35 sparse hair 33 HP:0008070
36 decreased serum insulin-like growth factor 1 33 HP:0030353
37 increased thyroid-stimulating hormone level 33 HP:0002925

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus
hypergonadotropic hypogonadism
hypogonadotropic hypergonadism
failure of secondary sexual development

Genitourinary:
hypogonadism

Genitourinary Internal Genitalia Female:
primary ovarian failure
hypoplastic uterus
rudimentary fallopian tubes
streak ovaries

Genitourinary Internal Genitalia Male:
small testes
testicular biopsy shows hypospermatogenesis
atrophic seminiferous tubules

Head And Neck Face:
triangular facies (in some patients)

Head And Neck Teeth:
anodontia (in some patients)

Skin Nails Hair Hair:
alopecia, partial, primarily involving scalp and eyebrows
short, sparse, fine hair
loss of eyebrow hair

Neurologic Central Nervous System:
dysarthria
dystonia
choreoathetosis
mental retardation
psychosis (rare)
more
Laboratory Abnormalities:
hyperlipidemia
decreased testosterone
decreased estradiol
decreased serum insulin-like growth factor 1 (igf1)
increased thyroid-stimulating hormone (tsh)
more
Genitourinary External Genitalia Male:
small penis

Head And Neck Ears:
deafness, sensorineural
prominent ears (in some patients)

Head And Neck Nose:
prominent nasal root (in some patients)

Cardiovascular Heart:
ecg shows flattened t waves

Clinical features from OMIM:

241080

UMLS symptoms related to Woodhouse-Sakati Syndrome:


abnormality of extrapyramidal motor function

Drugs & Therapeutics for Woodhouse-Sakati Syndrome

Search Clinical Trials , NIH Clinical Center for Woodhouse-Sakati Syndrome

Genetic Tests for Woodhouse-Sakati Syndrome

Genetic tests related to Woodhouse-Sakati Syndrome:

# Genetic test Affiliating Genes
1 Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 30 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

42
Ovary, Thyroid, Uterus, Testes, Brain, Skin

Publications for Woodhouse-Sakati Syndrome

Articles related to Woodhouse-Sakati Syndrome:

(show all 19)
# Title Authors Year
1
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. ( 29574468 )
2018
2
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. ( 30409855 )
2018
3
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. ( 26612766 )
2016
4
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. ( 27240811 )
2016
5
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. ( 26440089 )
2015
6
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. ( 26664771 )
2015
7
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. ( 24015686 )
2014
8
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. ( 24464444 )
2014
9
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. ( 21304230 )
2011
10
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
2011
11
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
2011
12
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. ( 20507343 )
2010
13
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ( 21044051 )
2010
14
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. ( 19026396 )
2008
15
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
16
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
2008
17
Woodhouse-Sakati syndrome: case report and symptoms review. ( 17710875 )
2007
18
Woodhouse Sakati syndrome associated with bilateral keratoconus. ( 16361682 )
2006
19
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. ( 6876115 )
1983

Variations for Woodhouse-Sakati Syndrome

ClinVar genetic disease variations for Woodhouse-Sakati Syndrome:

6 (show top 50) (show all 167)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCAF17 NM_025000.3(DCAF17): c.50delC (p.Ala17Glyfs) deletion Pathogenic GRCh38 Chromosome 2, 171434627: 171434627
2 DCAF17 NM_025000.3(DCAF17): c.50delC (p.Ala17Glyfs) deletion Pathogenic GRCh37 Chromosome 2, 172291137: 172291137
3 DCAF17 NM_025000.3(DCAF17): c.1422+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171480198: 171480198
4 DCAF17 NM_025000.3(DCAF17): c.1422+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172336708: 172336708
5 DCAF17 NM_025000.3(DCAF17): c.1091+6T> G single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171473981: 171473981
6 DCAF17 NM_025000.3(DCAF17): c.1091+6T> G single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172330491: 172330491
7 DCAF17 NM_025000.3(DCAF17): c.387G> A (p.Trp129Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172305256: 172305256
8 DCAF17 NM_025000.3(DCAF17): c.387G> A (p.Trp129Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171448746: 171448746
9 DCAF17 NM_025000.3(DCAF17): c.906G> A (p.Trp302Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171468955: 171468955
10 DCAF17 NM_025000.3(DCAF17): c.906G> A (p.Trp302Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172325465: 172325465
11 DCAF17 NM_025000.3(DCAF17): c.341C> A (p.Ser114Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 171448700: 171448700
12 DCAF17 NM_025000.3(DCAF17): c.341C> A (p.Ser114Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 172305210: 172305210
13 DCAF17 NM_025000.3(DCAF17): c.127-3_127-1delinsAA indel Pathogenic
14 DCAF17 NM_025000.3(DCAF17): c.1267-7C> T single nucleotide variant Benign rs3731981 GRCh37 Chromosome 2, 172336541: 172336541
15 DCAF17 NM_025000.3(DCAF17): c.1267-7C> T single nucleotide variant Benign rs3731981 GRCh38 Chromosome 2, 171480031: 171480031
16 DCAF17 NM_025000.3(DCAF17): c.1320T> C (p.Ala440=) single nucleotide variant Benign/Likely benign rs3731980 GRCh37 Chromosome 2, 172336601: 172336601
17 DCAF17 NM_025000.3(DCAF17): c.1320T> C (p.Ala440=) single nucleotide variant Benign/Likely benign rs3731980 GRCh38 Chromosome 2, 171480091: 171480091
18 DCAF17 NM_025000.3(DCAF17): c.150C> T (p.Val50=) single nucleotide variant Benign rs6751956 GRCh37 Chromosome 2, 172291616: 172291616
19 DCAF17 NM_025000.3(DCAF17): c.150C> T (p.Val50=) single nucleotide variant Benign rs6751956 GRCh38 Chromosome 2, 171435106: 171435106
20 DCAF17 NM_025000.3(DCAF17): c.555T> A (p.His185Gln) single nucleotide variant Likely benign rs3731984 GRCh37 Chromosome 2, 172309651: 172309651
21 DCAF17 NM_025000.3(DCAF17): c.555T> A (p.His185Gln) single nucleotide variant Likely benign rs3731984 GRCh38 Chromosome 2, 171453141: 171453141
22 DCAF17 NM_025000.3(DCAF17): c.939G> A (p.Gln313=) single nucleotide variant Benign/Likely benign rs61731491 GRCh37 Chromosome 2, 172325498: 172325498
23 DCAF17 NM_025000.3(DCAF17): c.939G> A (p.Gln313=) single nucleotide variant Benign/Likely benign rs61731491 GRCh38 Chromosome 2, 171468988: 171468988
24 DCAF17 NM_025000.3(DCAF17): c.999A> G (p.Gln333=) single nucleotide variant Benign rs3731983 GRCh37 Chromosome 2, 172330393: 172330393
25 DCAF17 NM_025000.3(DCAF17): c.999A> G (p.Gln333=) single nucleotide variant Benign rs3731983 GRCh38 Chromosome 2, 171473883: 171473883
26 DCAF17 NM_025000.3(DCAF17): c.322-14C> T single nucleotide variant Benign rs192861143 GRCh37 Chromosome 2, 172305177: 172305177
27 DCAF17 NM_025000.3(DCAF17): c.322-14C> T single nucleotide variant Benign rs192861143 GRCh38 Chromosome 2, 171448667: 171448667
28 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh37 Chromosome 2, 172305305: 172305305
29 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh38 Chromosome 2, 171448795: 171448795
30 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh37 Chromosome 2, 172300072: 172300072
31 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh38 Chromosome 2, 171443562: 171443562
32 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh37 Chromosome 2, 172300091: 172300091
33 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh38 Chromosome 2, 171443581: 171443581
34 DCAF17 NM_025000.3(DCAF17): c.-204C> T single nucleotide variant Uncertain significance rs147113116 GRCh38 Chromosome 2, 171434374: 171434374
35 DCAF17 NM_025000.3(DCAF17): c.-204C> T single nucleotide variant Uncertain significance rs147113116 GRCh37 Chromosome 2, 172290884: 172290884
36 DCAF17 NM_025000.3(DCAF17): c.127-15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs146556466 GRCh38 Chromosome 2, 171435068: 171435068
37 DCAF17 NM_025000.3(DCAF17): c.127-15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs146556466 GRCh37 Chromosome 2, 172291578: 172291578
38 DCAF17 NM_025000.3(DCAF17): c.214C> T (p.Arg72Trp) single nucleotide variant Uncertain significance rs886055106 GRCh38 Chromosome 2, 171435170: 171435170
39 DCAF17 NM_025000.3(DCAF17): c.214C> T (p.Arg72Trp) single nucleotide variant Uncertain significance rs886055106 GRCh37 Chromosome 2, 172291680: 172291680
40 DCAF17 NM_025000.3(DCAF17): c.1030T> C (p.Trp344Arg) single nucleotide variant Uncertain significance rs78488864 GRCh38 Chromosome 2, 171473914: 171473914
41 DCAF17 NM_025000.3(DCAF17): c.1030T> C (p.Trp344Arg) single nucleotide variant Uncertain significance rs78488864 GRCh37 Chromosome 2, 172330424: 172330424
42 DCAF17 NM_025000.3(DCAF17): c.*48A> T single nucleotide variant Uncertain significance rs753380867 GRCh38 Chromosome 2, 171481162: 171481162
43 DCAF17 NM_025000.3(DCAF17): c.*48A> T single nucleotide variant Uncertain significance rs753380867 GRCh37 Chromosome 2, 172337672: 172337672
44 DCAF17 NM_025000.3(DCAF17): c.*188T> A single nucleotide variant Uncertain significance rs142315519 GRCh38 Chromosome 2, 171481302: 171481302
45 DCAF17 NM_025000.3(DCAF17): c.*188T> A single nucleotide variant Uncertain significance rs142315519 GRCh37 Chromosome 2, 172337812: 172337812
46 DCAF17 NM_025000.3(DCAF17): c.*1258dupT duplication Uncertain significance rs745661005 GRCh38 Chromosome 2, 171482372: 171482372
47 DCAF17 NM_025000.3(DCAF17): c.*1258dupT duplication Uncertain significance rs745661005 GRCh37 Chromosome 2, 172338882: 172338882
48 DCAF17 NM_025000.3(DCAF17): c.*1565delT deletion Benign rs560178345 GRCh38 Chromosome 2, 171482679: 171482679
49 DCAF17 NM_025000.3(DCAF17): c.*1565delT deletion Benign rs560178345 GRCh37 Chromosome 2, 172339189: 172339189
50 DCAF17 NM_025000.3(DCAF17): c.*1747C> A single nucleotide variant Uncertain significance rs747014569 GRCh38 Chromosome 2, 171482861: 171482861

Expression for Woodhouse-Sakati Syndrome

Search GEO for disease gene expression data for Woodhouse-Sakati Syndrome.

Pathways for Woodhouse-Sakati Syndrome

GO Terms for Woodhouse-Sakati Syndrome

Sources for Woodhouse-Sakati Syndrome

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