MCID: WDH003
MIFTS: 41

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 52 23 48 24 25 70 12
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 25 27
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 24 25
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 48 25
Woodhouse Sakati Syndrome 48 68
Diabetes Mellitus 23 68
Hypogonadism 23 68
Alopecia 23 68
 
Wss 25 70
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 48
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 25
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 25
Intellectual Disability,extrapyramidal Syndrome 23
Wrinkly Skin Syndrome 68
Weaver Syndrome 68
Wosas 70

Characteristics:

HPO:

64
woodhouse-sakati syndrome:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 241080
MedGen37 C0342286

Summaries for Woodhouse-Sakati Syndrome

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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.

MalaCards based summary: Woodhouse-Sakati Syndrome, also known as hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities, is related to diabetes mellitus, insulin-dependent and diabetes mellitus, noninsulin-dependent, 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). The drugs testosterone undecanoate and black cohosh extract have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and uterus.

UniProtKB/Swiss-Prot:70 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Description from OMIM:52 241080

GeneReviews for NBK378974

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 top 50)    (show all 276)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, insulin-dependent12.6
2diabetes mellitus, noninsulin-dependent12.5
3diabetes mellitus, permanent neonatal12.5
4diabetes mellitus, transient neonatal, 112.5
5neonatal diabetes mellitus12.5
6alopecia areata12.4
7alopecia universalis12.3
8diabetes mellitus, 6q24-related transient neonatal12.3
9diabetes mellitus, insulin-resistant, with acanthosis nigricans12.3
10diabetes mellitus, ketosis-prone12.2
11diabetes mellitus, neonatal, with congenital hypothyroidism12.2
12alopecia, androgenetic, 112.2
13diabetes mellitus, transient neonatal, 312.2
14diabetes mellitus, transient neonatal 212.2
15diabetes mellitus, insulin-dependent, 2012.2
16diabetes mellitus, insulin-dependent, 1212.2
17diabetes mellitus, noninsulin-dependent 112.2
18diabetes mellitus, insulin-dependent, 2212.2
19diabetes, mellitus, insulin-dependent 1012.2
20diabetes mellitus, insulin-dependent, 212.2
21ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus12.2
22diabetes mellitus, insulin-dependent, 1912.2
23wolfram syndrome12.1
24diabetes mellitus, noninsulin-dependent, 512.1
25alopecia totalis12.1
26frontal fibrosing alopecia12.1
27diabetes mellitus, insulin-dependent, 312.1
28alopecia, neurologic defects, and endocrinopathy syndrome12.1
29gestational diabetes12.1
30mandibulofacial dysostosis with alopecia12.1
31central centrifugal cicatricial alopecia12.1
32t-cell immunodeficiency, congenital alopecia, and nail dystrophy12.1
33muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus11.9
34diabetes mellitus, insulin-dependent, 1311.9
35diabetes mellitus, insulin-dependent, 511.9
36diabetes mellitus, noninsulin-dependent, 211.9
37alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus11.9
38rabson-mendenhall syndrome11.9
39diabetes mellitus, insulin-dependent, 711.9
40diabetes mellitus, insulin-dependent, 2311.9
41diabetes mellitus, insulin-dependent, 1811.9
42diabetes mellitus, insulin-dependent, 1511.9
43diabetes mellitus, insulin-dependent, 2111.9
44diabetes mellitus, insulin-dependent, 811.9
45diabetes mellitus, insulin-dependent, 2411.9
46diabetes mellitus, insulin-dependent, 1711.9
47diabetes mellitus, insulin-dependent, 411.9
48diabetes mellitus, insulin-dependent, 1111.9
49diabetes mellitus, insulin-dependent, 611.9
50diabetes mellitus, insulin-dependent, x-linked11.9

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



Diseases related to woodhouse-sakati syndrome

Symptoms & Phenotypes for Woodhouse-Sakati Syndrome

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Symptoms by clinical synopsis from OMIM:

241080

Clinical features from OMIM:

241080

Human phenotypes related to Woodhouse-Sakati Syndrome:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 abnormality of the genital system64 hallmark (90%) HP:0000078
2 hearing impairment64 hallmark (90%) HP:0000365
3 arrhythmia64 hallmark (90%) HP:0011675
4 cognitive impairment64 hallmark (90%) HP:0100543
5 type i diabetes mellitus64 hallmark (90%) HP:0100651
6 triangular face64 rare (5%) HP:0000325
7 protruding ear64 rare (5%) HP:0000411
8 prominent nasal bridge64 rare (5%) HP:0000426
9 anodontia64 rare (5%) HP:0000674
10 psychosis64 rare (5%) HP:0000709
11 hallucinations64 rare (5%) HP:0000738
12 hypoplasia of the uterus64 HP:0000013
13 hypogonadotrophic hypogonadism64 HP:0000044
14 micropenis64 HP:0000054
15 sensorineural hearing impairment64 HP:0000407
16 hypergonadotropic hypogonadism64 HP:0000815
17 diabetes mellitus64 HP:0000819
18 intellectual disability64 HP:0001249
19 dysarthria64 HP:0001260
20 choreoathetosis64 HP:0001266
21 dystonia64 HP:0001332
22 primary ovarian failure64 HP:0001587
23 alopecia64 HP:0001596
24 abnormality of extrapyramidal motor function64 HP:0002071
25 fine hair64 HP:0002213
26 thyroid-stimulating hormone excess64 HP:0002925
27 hyperlipidemia64 HP:0003077
28 ekg64 HP:0005135
29 sparse hair64 HP:0008070
30 hypoplasia of the fallopian tube64 HP:0008697
31 decreased testicular size64 HP:0008734
32 decreased serum testosterone level64 HP:0040171

UMLS symptoms related to Woodhouse-Sakati Syndrome:


symptoms, o/e - left eye diabetic maculopathy, o/e - right eye diabetic maculopathy, o/e - left eye proliferative diabetic retinopathy, o/e - right eye proliferative diabetic retinopathy, o/e - left eye preproliferative diabetic retinopathy, o/e - right eye preproliferative diabetic retinopathy, o/e - left eye background diabetic retinopathy, o/e - right eye background diabetic retinopathy, equilibration disorder, tremor, temporal hair recession, pruritus, exanthema, decreased libido, increased libido, muscle spasticity, extrapyramidal sign

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 Abnormalities27
2 Woodhouse-Sakati Syndrome24 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

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MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

36
Eye, Skin, Uterus, Thyroid

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 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1DCAF17NM_025000.3(DCAF17): c.322-14C> TSNVLikely pathogenicrs192861143GRCh37Chr 2, 172305177: 172305177
2DCAF17NM_025000.3(DCAF17): c.436delC (p.Ala147Hisfs)deletionPathogenicrs797045038GRCh38Chr 2, 171448795: 171448795
3DCAF17NM_025000.3(DCAF17): c.270delA (p.Lys90Asnfs)deletionPathogenicrs879253799GRCh37Chr 2, 172300072: 172300072
4DCAF17NM_025000.3(DCAF17): c.289dupA (p.Ile97Asnfs)duplicationPathogenicrs863224865GRCh37Chr 2, 172300091: 172300091
5ATP6V0A2NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)duplicationPathogenicrs886043377GRCh37Chr 12, 124197190: 124197190
6DCAF17DCAF17, TRP129TERSNVPathogenicChr na, -1: -1
7DCAF17DCAF17, TRP302TERSNVPathogenicChr na, -1: -1
8DCAF17DCAF17, SER114TERSNVPathogenicChr na, -1: -1
9DCAF17DCAF17, 3-BP DEL/2-BP INS, 127TAG/AAindelPathogenicChr na, -1: -1
10DCAF17DCAF17, 1-BP DEL, 50CdeletionPathogenicChr na, -1: -1
11DCAF17DCAF17, IVS13, G-T, +5SNVPathogenicChr na, -1: -1
12DCAF17DCAF17, IVS10, T-G, +6SNVPathogenicChr na, -1: -1
13ATP6V0A2ATP6V0A2, 10132G-ASNVPathogenicChr na, -1: -1

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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Cellular components related to Woodhouse-Sakati Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of membraneGO:00160219.1ATP6V0A2, DCAF17

Sources for Woodhouse-Sakati Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet