MCID: WDH003
MIFTS: 34

Woodhouse-Sakati Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Woodhouse-Sakati Syndrome

MalaCards integrated aliases for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 57 76 24 53 25 75 37 13
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 25 29 6
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 57 25
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 57 25
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 53 25
Woodhouse Sakati Syndrome 53 73
Wss 25 75
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 53
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 25
Syndrome, Woodhouse-Sakati 40
Wosas 75

Characteristics:

OMIM:

57
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:

32
woodhouse-sakati syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Woodhouse-Sakati Syndrome

NIH Rare Diseases : 53 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 weaver syndrome and wrinkly skin syndrome, 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 uterus, ovary and thyroid, and related phenotypes are hypoplasia of the uterus and hypogonadotrophic hypogonadism

UniProtKB/Swiss-Prot : 75 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Genetics Home Reference : 25 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.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 weaver syndrome 11.2
2 wrinkly skin syndrome 11.1
3 wiedemann-steiner syndrome 10.9
4 acrocephalopolysyndactyly type iii 10.8
5 sakati syndrome 10.8
6 alopecia 10.2
7 diabetes mellitus 10.2
8 keratoconus 10.2
9 hypotrichosis 10.2
10 dystonia 10.2

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



Diseases related to Woodhouse-Sakati Syndrome

Symptoms & Phenotypes for Woodhouse-Sakati Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Woodhouse-Sakati Syndrome:

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

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 29 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

41
Uterus, Ovary, Thyroid, Testes

Publications for Woodhouse-Sakati Syndrome

Articles related to Woodhouse-Sakati Syndrome:

(show all 17)
# Title Authors Year
1
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. ( 29574468 )
2018
2
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. ( 27240811 )
2016
3
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS). ( 26612766 )
2015
4
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
5
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. ( 26440089 )
2015
6
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. ( 24464444 )
2014
7
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. ( 24015686 )
2013
8
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. ( 21304230 )
2011
9
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
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
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. ( 20507343 )
2010
12
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ( 21044051 )
2010
13
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
14
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
2008
15
Woodhouse-Sakati syndrome: case report and symptoms review. ( 17710875 )
2007
16
Woodhouse Sakati syndrome associated with bilateral keratoconus. ( 16361682 )
2006
17
Woodhouse-Sakati Syndrome ( 27489925 )
1993

Variations for Woodhouse-Sakati Syndrome

ClinVar genetic disease variations for Woodhouse-Sakati Syndrome:

6
(show top 50) (show all 145)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCAF17 DCAF17, 1-BP DEL, 50C deletion Pathogenic
2 DCAF17 DCAF17, IVS13, G-T, +5 single nucleotide variant Pathogenic
3 DCAF17 DCAF17, IVS10, T-G, +6 single nucleotide variant Pathogenic
4 DCAF17 DCAF17, TRP129TER single nucleotide variant Pathogenic
5 DCAF17 DCAF17, TRP302TER single nucleotide variant Pathogenic
6 DCAF17 DCAF17, SER114TER single nucleotide variant Pathogenic
7 DCAF17 DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA indel Pathogenic
8 DCAF17 NM_025000.3(DCAF17): c.322-14C> T single nucleotide variant Benign rs192861143 GRCh37 Chromosome 2, 172305177: 172305177
9 DCAF17 NM_025000.3(DCAF17): c.322-14C> T single nucleotide variant Benign rs192861143 GRCh38 Chromosome 2, 171448667: 171448667
10 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh37 Chromosome 2, 172305305: 172305305
11 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh38 Chromosome 2, 171448795: 171448795
12 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh37 Chromosome 2, 172300072: 172300072
13 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh38 Chromosome 2, 171443562: 171443562
14 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh37 Chromosome 2, 172300091: 172300091
15 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh38 Chromosome 2, 171443581: 171443581
16 DCAF17 NM_025000.3(DCAF17): c.-204C> T single nucleotide variant Uncertain significance rs147113116 GRCh38 Chromosome 2, 171434374: 171434374
17 DCAF17 NM_025000.3(DCAF17): c.-204C> T single nucleotide variant Uncertain significance rs147113116 GRCh37 Chromosome 2, 172290884: 172290884
18 DCAF17 NM_025000.3(DCAF17): c.127-15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs146556466 GRCh38 Chromosome 2, 171435068: 171435068
19 DCAF17 NM_025000.3(DCAF17): c.127-15C> A single nucleotide variant Conflicting interpretations of pathogenicity rs146556466 GRCh37 Chromosome 2, 172291578: 172291578
20 DCAF17 NM_025000.3(DCAF17): c.214C> T (p.Arg72Trp) single nucleotide variant Uncertain significance rs886055106 GRCh38 Chromosome 2, 171435170: 171435170
21 DCAF17 NM_025000.3(DCAF17): c.214C> T (p.Arg72Trp) single nucleotide variant Uncertain significance rs886055106 GRCh37 Chromosome 2, 172291680: 172291680
22 DCAF17 NM_025000.3(DCAF17): c.1030T> C (p.Trp344Arg) single nucleotide variant Uncertain significance rs78488864 GRCh37 Chromosome 2, 172330424: 172330424
23 DCAF17 NM_025000.3(DCAF17): c.1030T> C (p.Trp344Arg) single nucleotide variant Uncertain significance rs78488864 GRCh38 Chromosome 2, 171473914: 171473914
24 DCAF17 NM_025000.3(DCAF17): c.*48A> T single nucleotide variant Uncertain significance rs753380867 GRCh37 Chromosome 2, 172337672: 172337672
25 DCAF17 NM_025000.3(DCAF17): c.*48A> T single nucleotide variant Uncertain significance rs753380867 GRCh38 Chromosome 2, 171481162: 171481162
26 DCAF17 NM_025000.3(DCAF17): c.*188T> A single nucleotide variant Uncertain significance rs142315519 GRCh38 Chromosome 2, 171481302: 171481302
27 DCAF17 NM_025000.3(DCAF17): c.*188T> A single nucleotide variant Uncertain significance rs142315519 GRCh37 Chromosome 2, 172337812: 172337812
28 DCAF17 NM_025000.3(DCAF17): c.*1258dupT duplication Uncertain significance rs886055110 GRCh38 Chromosome 2, 171482372: 171482372
29 DCAF17 NM_025000.3(DCAF17): c.*1258dupT duplication Uncertain significance rs886055110 GRCh37 Chromosome 2, 172338882: 172338882
30 DCAF17 NM_025000.3(DCAF17): c.*1565delT deletion Benign rs886055112 GRCh38 Chromosome 2, 171482679: 171482679
31 DCAF17 NM_025000.3(DCAF17): c.*1565delT deletion Benign rs886055112 GRCh37 Chromosome 2, 172339189: 172339189
32 DCAF17 NM_025000.3(DCAF17): c.*1747C> A single nucleotide variant Uncertain significance rs747014569 GRCh38 Chromosome 2, 171482861: 171482861
33 DCAF17 NM_025000.3(DCAF17): c.*1747C> A single nucleotide variant Uncertain significance rs747014569 GRCh37 Chromosome 2, 172339371: 172339371
34 DCAF17 NM_025000.3(DCAF17): c.*1841G> T single nucleotide variant Uncertain significance rs114519296 GRCh38 Chromosome 2, 171482955: 171482955
35 DCAF17 NM_025000.3(DCAF17): c.*1841G> T single nucleotide variant Uncertain significance rs114519296 GRCh37 Chromosome 2, 172339465: 172339465
36 DCAF17 NM_025000.3(DCAF17): c.*2312G> A single nucleotide variant Uncertain significance rs777311799 GRCh38 Chromosome 2, 171483426: 171483426
37 DCAF17 NM_025000.3(DCAF17): c.*2312G> A single nucleotide variant Uncertain significance rs777311799 GRCh37 Chromosome 2, 172339936: 172339936
38 DCAF17 NM_025000.3(DCAF17): c.*3703A> G single nucleotide variant Benign rs9789572 GRCh38 Chromosome 2, 171484817: 171484817
39 DCAF17 NM_025000.3(DCAF17): c.*3703A> G single nucleotide variant Benign rs9789572 GRCh37 Chromosome 2, 172341327: 172341327
40 DCAF17 NM_025000.3(DCAF17): c.*3705A> G single nucleotide variant Uncertain significance rs577520268 GRCh38 Chromosome 2, 171484819: 171484819
41 DCAF17 NM_025000.3(DCAF17): c.*3705A> G single nucleotide variant Uncertain significance rs577520268 GRCh37 Chromosome 2, 172341329: 172341329
42 DCAF17 NM_025000.3(DCAF17): c.*3880G> T single nucleotide variant Uncertain significance rs754667938 GRCh38 Chromosome 2, 171484994: 171484994
43 DCAF17 NM_025000.3(DCAF17): c.*3880G> T single nucleotide variant Uncertain significance rs754667938 GRCh37 Chromosome 2, 172341504: 172341504
44 DCAF17 NM_025000.3(DCAF17): c.-111G> T single nucleotide variant Uncertain significance rs80336595 GRCh38 Chromosome 2, 171434467: 171434467
45 DCAF17 NM_025000.3(DCAF17): c.-111G> T single nucleotide variant Uncertain significance rs80336595 GRCh37 Chromosome 2, 172290977: 172290977
46 DCAF17 NM_025000.3(DCAF17): c.533G> A (p.Arg178Gln) single nucleotide variant Uncertain significance rs202231211 GRCh38 Chromosome 2, 171449953: 171449953
47 DCAF17 NM_025000.3(DCAF17): c.533G> A (p.Arg178Gln) single nucleotide variant Uncertain significance rs202231211 GRCh37 Chromosome 2, 172306463: 172306463
48 DCAF17 NM_025000.3(DCAF17): c.579C> A (p.Phe193Leu) single nucleotide variant Uncertain significance rs150095386 GRCh37 Chromosome 2, 172309675: 172309675
49 DCAF17 NM_025000.3(DCAF17): c.579C> A (p.Phe193Leu) single nucleotide variant Uncertain significance rs150095386 GRCh38 Chromosome 2, 171453165: 171453165
50 DCAF17 NM_025000.3(DCAF17): c.792T> C (p.Thr264=) single nucleotide variant Uncertain significance rs199742600 GRCh38 Chromosome 2, 171458431: 171458431

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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74 UMLS via Orphanet
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