MCID: WDH003
MIFTS: 32

Woodhouse-Sakati Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Woodhouse-Sakati Syndrome

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Aliases & Descriptions for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 50 22 46 23 24 68 12
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 24 25
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 23 24
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 46 24
Woodhouse Sakati Syndrome 46 66
Wss 24 68
 
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 46
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 24
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 24
Wrinkly Skin Syndrome 66
Weaver Syndrome 66
Wosas 68

Characteristics:

HPO:

62
woodhouse-sakati syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 241080
MedGen35 C0342286

Summaries for Woodhouse-Sakati Syndrome

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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.

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 the genital system, hearing impairment and arrhythmia. An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17). Affiliated tissues include skin, uterus and thyroid.

UniProtKB/Swiss-Prot:68 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Description from OMIM:50 241080

Related Diseases for Woodhouse-Sakati Syndrome

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1weaver syndrome11.1
2wrinkly skin syndrome11.0
3wiedemann-steiner syndrome10.9
4weaver syndrome 110.9
5sakati syndrome10.8
6hypogonadism10.3
7alopecia10.2
8keratoconus10.2
9hypotrichosis10.2
10dystonia10.2
11atherosclerosis10.0
12intracranial aneurysm10.0
13aneurysm10.0
14woodhouse-sakati syndrome9.5DCAF17, ITPA

Graphical network of diseases related to Woodhouse-Sakati Syndrome:



Diseases related to woodhouse-sakati syndrome

Symptoms for Woodhouse-Sakati Syndrome

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Symptoms by clinical synopsis from OMIM:

241080

Clinical features from OMIM:

241080

HPO human phenotypes related to Woodhouse-Sakati Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 hearing impairment hallmark (90%) HP:0000365
3 arrhythmia hallmark (90%) HP:0011675
4 cognitive impairment hallmark (90%) HP:0100543
5 type i diabetes mellitus hallmark (90%) HP:0100651
6 triangular face rare (5%) HP:0000325
7 protruding ear rare (5%) HP:0000411
8 prominent nasal bridge rare (5%) HP:0000426
9 anodontia rare (5%) HP:0000674
10 psychosis rare (5%) HP:0000709
11 hallucinations rare (5%) HP:0000738
12 hypoplasia of the uterus HP:0000013
13 hypogonadotrophic hypogonadism HP:0000044
14 micropenis HP:0000054
15 sensorineural hearing impairment HP:0000407
16 hypergonadotropic hypogonadism HP:0000815
17 diabetes mellitus HP:0000819
18 intellectual disability HP:0001249
19 dysarthria HP:0001260
20 choreoathetosis HP:0001266
21 dystonia HP:0001332
22 primary ovarian failure HP:0001587
23 alopecia HP:0001596
24 abnormality of extrapyramidal motor function HP:0002071
25 fine hair HP:0002213
26 thyroid-stimulating hormone excess HP:0002925
27 hyperlipidemia HP:0003077
28 ekg HP:0005135
29 sparse hair HP:0008070
30 hypoplasia of the fallopian tube HP:0008697
31 decreased testicular size HP:0008734
32 decreased serum testosterone level HP:0040171

UMLS symptoms related to Woodhouse-Sakati Syndrome:


muscle spasticity, extrapyramidal sign

Drugs & Therapeutics for Woodhouse-Sakati Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Woodhouse-Sakati Syndrome

Genetic Tests for Woodhouse-Sakati Syndrome

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Genetic tests related to Woodhouse-Sakati Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities25
2 Woodhouse-Sakati Syndrome23 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

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MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

34
Skin, Uterus, Thyroid

Animal Models for Woodhouse-Sakati Syndrome or affiliated genes

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Publications for Woodhouse-Sakati Syndrome

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Articles related to Woodhouse-Sakati Syndrome:

(show all 16)
idTitleAuthorsYear
1
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. (27240811)
2016
2
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
3
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. (26440089)
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
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. (21304230)
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
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. (21964978)
2011
10
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (21044051)
2010
11
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. (20507343)
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

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Clinvar genetic disease variations for Woodhouse-Sakati Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DCAF17NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs)deletionPathogenicrs797045038GRCh37Chr 2, 172305305: 172305305
2DCAF17NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs)deletionPathogenicGRCh37Chr 2, 172300072: 172300072
3DCAF17NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs)duplicationPathogenicrs863224865GRCh37Chr 2, 172300091: 172300091
4DCAF17DCAF17, TRP129TERsingle nucleotide variantPathogenic
5DCAF17DCAF17, TRP302TERsingle nucleotide variantPathogenic
6DCAF17DCAF17, SER114TERsingle nucleotide variantPathogenic
7DCAF17DCAF17, 3-BP DEL/2-BP INS, 127TAG/AAindelPathogenic
8DCAF17DCAF17, 1-BP DEL, 50CdeletionPathogenic
9DCAF17DCAF17, IVS13, G-T, +5single nucleotide variantPathogenic
10DCAF17DCAF17, IVS10, T-G, +6single nucleotide variantPathogenic

Expression for genes affiliated with Woodhouse-Sakati Syndrome

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

Pathways for genes affiliated with Woodhouse-Sakati Syndrome

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GO Terms for genes affiliated with Woodhouse-Sakati Syndrome

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Sources for Woodhouse-Sakati Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet