MCID: WDH003
MIFTS: 47

Woodhouse-Sakati Syndrome

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

Aliases & Classifications for Woodhouse-Sakati Syndrome

MalaCards integrated aliases for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 53 72 23 49 24 71 36 13
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 53 24
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 24 28
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 53 24
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 49 24
Woodhouse Sakati Syndrome 49 69
Diabetes Mellitus 23 69
Hypogonadism 23 69
Alopecia 23 69
Wss 24 71
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 49
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 24
Intellectual Disability,extrapyramidal Syndrome 23
Wosas 71

Characteristics:

OMIM:

53
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:

31
woodhouse-sakati syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Woodhouse-Sakati Syndrome

NIH Rare Diseases : 49 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. Last updated: 5/13/2009

MalaCards based summary : Woodhouse-Sakati Syndrome, also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, is related to diabetes mellitus and diabetes mellitus, noninsulin-dependent, and has symptoms including abnormality of extrapyramidal motor function, dystonia and diabetes mellitus. An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17). Affiliated tissues include ovary, thyroid and uterus.

UniProtKB/Swiss-Prot : 71 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Genetics Home Reference : 24 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.

Description from OMIM: 241080
GeneReviews: NBK378974

Related Diseases for Woodhouse-Sakati Syndrome

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

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 29.3 KCNJ11 MEN1
2 diabetes mellitus, noninsulin-dependent 12.8
3 diabetes mellitus, insulin-dependent 12.7
4 alopecia areata 12.5
5 alopecia universalis congenita 12.5
6 hypogonadism 12.4
7 hypogonadotropic hypogonadism 7 with or without anosmia 12.4
8 hypogonadotropic hypogonadism 12.2
9 hypogonadotropic hypogonadism 2 with or without anosmia 12.2
10 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.2
11 ataxia - hypogonadism - choroidal dystrophy 12.2
12 hypogonadotropic hypogonadism 1 with or without anosmia 12.2
13 hypogonadotropic hypogonadism 23 without anosmia 12.2
14 hypogonadotropic hypogonadism 10 with or without anosmia 12.2
15 hypogonadotropic hypogonadism 11 with or without anosmia 12.2
16 hypogonadotropic hypogonadism 12 with or without anosmia 12.2
17 hypogonadotropic hypogonadism 13 with or without anosmia 12.2
18 hypogonadotropic hypogonadism 15 with or without anosmia 12.2
19 hypogonadotropic hypogonadism 16 with or without anosmia 12.2
20 hypogonadotropic hypogonadism 21 with or without anosmia 12.2
21 hypogonadotropic hypogonadism 22 with or without anosmia 12.2
22 hypogonadotropic hypogonadism 8 with or without anosmia 12.2
23 hypogonadotropic hypogonadism 9 with or without anosmia 12.2
24 hypogonadotropic hypogonadism 14 with or without anosmia 12.2
25 hypogonadotropic hypogonadism 17 with or without anosmia 12.2
26 hypogonadotropic hypogonadism 18 with or without anosmia 12.2
27 hypogonadotropic hypogonadism 19 with or without anosmia 12.2
28 hypogonadotropic hypogonadism 20 with or without anosmia 12.2
29 hypogonadism, male 12.1
30 hypogonadotropic hypogonadism 3 with or without anosmia 12.1
31 hypogonadotropic hypogonadism 4 with or without anosmia 12.1
32 hypogonadotropic hypogonadism 5 with or without anosmia 12.1
33 hypogonadotropic hypogonadism 6 with or without anosmia 12.1
34 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
35 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 12.1
36 hypogonadotropic hypogonadism 24 without anosmia 12.0
37 deafness-hypogonadism syndrome 12.0
38 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.0
39 hydrocephalus obesity hypogonadism 12.0
40 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 11.9
41 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 11.9
42 kallmann syndrome 11.9
43 gordon holmes syndrome 11.9
44 normosmic congenital hypogonadotropic hypogonadism 11.9
45 hypogonadism-cataract syndrome 11.8
46 hypergonadotropic hypogonadism and partial alopecia 11.8
47 muscular dystrophy, congenital, with infantile cataract and hypogonadism 11.8
48 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.8
49 moebius axonal neuropathy hypogonadism 11.8
50 boucher-neuhauser syndrome 11.7

Comorbidity relations with Woodhouse-Sakati Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis Decubitus Ulcer
Deficiency Anemia Familial Atrial Fibrillation
Heart Disease Hypertension, Essential
Ischemic Heart Disease Peripheral Vascular Disease
Schizophreniform Disorder

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:

53
Neurologic Central Nervous System:
dystonia
dysarthria
choreoathetosis
mental retardation
psychosis (rare)
more
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

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

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:

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

UMLS symptoms related to Woodhouse-Sakati Syndrome:


abnormality of extrapyramidal motor function, symptoms, equilibration disorder, tremor, angina pectoris, pruritus, exanthema

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 28 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

38
Ovary, Thyroid, Uterus, Testes

Publications for Woodhouse-Sakati Syndrome

Articles related to Woodhouse-Sakati Syndrome:

(show all 16)
# Title Authors Year
1
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. ( 27240811 )
2016
2
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. ( 26440089 )
2015
3
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
4
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS). ( 26612766 )
2015
5
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. ( 24464444 )
2014
6
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. ( 24015686 )
2013
7
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
2011
8
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
2011
9
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. ( 21304230 )
2011
10
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. ( 20507343 )
2010
11
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ( 21044051 )
2010
12
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
2008
13
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
14
Woodhouse-Sakati syndrome: case report and symptoms review. ( 17710875 )
2007
15
Woodhouse Sakati syndrome associated with bilateral keratoconus. ( 16361682 )
2006
16
Woodhouse-Sakati Syndrome ( 27489925 )
1993

Variations for Woodhouse-Sakati Syndrome

ClinVar genetic disease variations for Woodhouse-Sakati Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ11 NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs80356625 GRCh37 Chromosome 11, 17409038: 17409038
2 KCNJ11 NM_000525.3(KCNJ11): c.964G> A (p.Glu322Lys) single nucleotide variant Pathogenic rs193929355 GRCh37 Chromosome 11, 17408675: 17408675
3 DCAF17 DCAF17, TRP129TER single nucleotide variant Pathogenic
4 DCAF17 DCAF17, TRP302TER single nucleotide variant Pathogenic
5 DCAF17 DCAF17, SER114TER single nucleotide variant Pathogenic
6 DCAF17 DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA indel Pathogenic
7 KCNJ11 NM_000525.3(KCNJ11): c.988T> C (p.Tyr330His) single nucleotide variant Pathogenic rs587783675 GRCh37 Chromosome 11, 17408651: 17408651
8 KCNJ11 NM_000525.3(KCNJ11): c.685G> A (p.Glu229Lys) single nucleotide variant Pathogenic rs587783673 GRCh37 Chromosome 11, 17408954: 17408954
9 KCNJ11 NM_000525.3(KCNJ11): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs587783672 GRCh37 Chromosome 11, 17408960: 17408960
10 DCAF17 DCAF17, 1-BP DEL, 50C deletion Pathogenic
11 DCAF17 DCAF17, IVS13, G-T, +5 single nucleotide variant Pathogenic
12 DCAF17 DCAF17, IVS10, T-G, +6 single nucleotide variant Pathogenic
13 DCAF17 NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs) deletion Pathogenic rs797045038 GRCh37 Chromosome 2, 172305305: 172305305
14 DCAF17 NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs) deletion Pathogenic rs879253799 GRCh37 Chromosome 2, 172300072: 172300072
15 DCAF17 NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs) duplication Pathogenic rs863224865 GRCh37 Chromosome 2, 172300091: 172300091
16 MEN1 NM_000244.3(MEN1): c.669+1delG deletion Pathogenic rs1057518903 GRCh37 Chromosome 11, 64575362: 64575362

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

Biological processes related to Woodhouse-Sakati Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 8.96 DCAF17 MEN1
2 cellular response to glucose stimulus GO:0071333 8.62 KCNJ11 MEN1

Sources for Woodhouse-Sakati Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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