WOSAS
MCID: WDH003
MIFTS: 41

Woodhouse-Sakati Syndrome (WOSAS) malady

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

Aliases & Classifications for Woodhouse-Sakati Syndrome

Aliases & Descriptions for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 54 23 50 24 25 66 13
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 25 29
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 24 25
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 50 25
Woodhouse Sakati Syndrome 50 69
Diabetes Mellitus 23 69
Hypogonadism 23 69
Alopecia 23 69
Wss 25 66
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities 50
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
Wosas 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 241080
MedGen 40 C0342286

Summaries for Woodhouse-Sakati 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.

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, permanent neonatal, 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 thyroid, ovary and uterus.

UniProtKB/Swiss-Prot : 66 Woodhouse-Sakati syndrome: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

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 289)
id Related Disease Score Top Affiliating Genes
1 diabetes mellitus, insulin-dependent 12.6
2 diabetes mellitus, permanent neonatal 12.5
3 diabetes mellitus, noninsulin-dependent 12.5
4 diabetes mellitus, transient neonatal, 1 12.5
5 neonatal diabetes mellitus 12.4
6 alopecia areata 12.4
7 diabetes mellitus, insulin-dependent, 20 12.4
8 diabetes mellitus, insulin-dependent, 2 12.3
9 diabetes mellitus, insulin-dependent, 12 12.3
10 diabetes mellitus, insulin-dependent, 22 12.3
11 diabetes mellitus, 6q24-related transient neonatal 12.3
12 diabetes mellitus, insulin-dependent, 19 12.3
13 alopecia universalis 12.3
14 diabetes mellitus, insulin-dependent, 5 12.3
15 diabetes mellitus, insulin-dependent, 24 12.3
16 diabetes mellitus, insulin-dependent, 7 12.3
17 diabetes mellitus, insulin-dependent, 21 12.3
18 diabetes mellitus, insulin-dependent, 23 12.3
19 diabetes mellitus, insulin-dependent, 3 12.3
20 diabetes mellitus, insulin-dependent, 18 12.3
21 diabetes mellitus, insulin-dependent, 17 12.3
22 diabetes mellitus, insulin-dependent, 15 12.3
23 diabetes mellitus, insulin-dependent, 4 12.3
24 diabetes mellitus, insulin-dependent, 11 12.3
25 diabetes mellitus, insulin-dependent, 6 12.3
26 diabetes mellitus, insulin-resistant, with acanthosis nigricans 12.3
27 type 1 diabetes mellitus 10 12.3
28 diabetes mellitus, ketosis-prone 12.2
29 diabetes mellitus, neonatal, with congenital hypothyroidism 12.2
30 diabetes mellitus, transient neonatal, 3 12.2
31 diabetes mellitus, transient neonatal 2 12.2
32 alopecia totalis 12.2
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 12.2
34 diabetes mellitus, noninsulin-dependent 1 12.2
35 diabetes, mellitus, insulin-dependent 10 12.2
36 frontal fibrosing alopecia 12.2
37 diabetes mellitus, insulin-dependent, 13 12.1
38 wolfram syndrome 12.1
39 diabetes mellitus, insulin-dependent, 8 12.1
40 diabetes mellitus, noninsulin-dependent, 5 12.1
41 alopecia, androgenetic, 1 12.1
42 alopecia, neurologic defects, and endocrinopathy syndrome 12.1
43 mandibulofacial dysostosis with alopecia 12.1
44 gestational diabetes 12.1
45 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.1
46 central centrifugal cicatricial alopecia 12.1
47 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 11.9
48 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 11.9
49 diabetes mellitus, noninsulin-dependent, 2 11.9
50 rabson-mendenhall syndrome 11.9

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 by clinical synopsis from OMIM:

241080

Clinical features from OMIM:

241080

Human phenotypes related to Woodhouse-Sakati Syndrome:

32 (show all 37)
id Description HPO Frequency HPO Source Accession
1 abnormality of extrapyramidal motor function 32 HP:0002071
2 dystonia 32 HP:0001332
3 diabetes mellitus 32 HP:0000819
4 hypothyroidism 32 HP:0000821
5 intellectual disability 32 HP:0001249
6 dysarthria 32 HP:0001260
7 hallucinations 32 HP:0000738
8 sensorineural hearing impairment 32 HP:0000407
9 hypogonadotrophic hypogonadism 32 HP:0000044
10 protruding ear 32 HP:0000411
11 prominent nasal bridge 32 HP:0000426
12 psychosis 32 HP:0000709
13 hypergonadotropic hypogonadism 32 HP:0000815
14 decreased testicular size 32 HP:0008734
15 decreased serum testosterone level 32 HP:0040171
16 hyperlipidemia 32 HP:0003077
17 fine hair 32 HP:0002213
18 alopecia 32 HP:0001596
19 mental deterioration 32 HP:0001268
20 aplasia/hypoplasia of the eyebrow 32 HP:0100840
21 triangular face 32 HP:0000325
22 sparse hair 32 HP:0008070
23 abnormal spermatogenesis 32 HP:0008669
24 micropenis 32 HP:0000054
25 prominent nose 32 HP:0000448
26 choreoathetosis 32 HP:0001266
27 hypoplasia of the uterus 32 HP:0000013
28 decreased serum estradiol 32 HP:0008214
29 streak ovary 32 HP:0010464
30 insulin-resistant diabetes mellitus 32 HP:0000831
31 primary ovarian failure 32 HP:0001587
32 decreased serum insulin-like growth factor 1 32 HP:0030353
33 bilateral sensorineural hearing impairment 32 HP:0008619
34 anodontia 32 HP:0000674
35 thyroid-stimulating hormone excess 32 HP:0002925
36 hypoplasia of the fallopian tube 32 HP:0008697
37 abnormal t-wave 32 HP:0005135

UMLS symptoms related to Woodhouse-Sakati Syndrome:


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

Genetic Tests for Woodhouse-Sakati Syndrome

Genetic tests related to Woodhouse-Sakati Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 29
2 Woodhouse-Sakati Syndrome 24 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

39
Thyroid, Ovary, Uterus

Publications for Woodhouse-Sakati Syndrome

Articles related to Woodhouse-Sakati Syndrome:

(show all 16)
id 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
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
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
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
2011
9
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
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
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
13
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
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)
id 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 KCNJ11 NM_000525.3(KCNJ11): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs80356625 GRCh37 Chromosome 11, 17409038: 17409038
5 KCNJ11 NM_000525.3(KCNJ11): c.964G> A (p.Glu322Lys) single nucleotide variant Pathogenic rs193929355 GRCh37 Chromosome 11, 17408675: 17408675
6 DCAF17 DCAF17, TRP129TER single nucleotide variant Pathogenic
7 DCAF17 DCAF17, TRP302TER single nucleotide variant Pathogenic
8 DCAF17 DCAF17, SER114TER single nucleotide variant Pathogenic
9 DCAF17 DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA indel Pathogenic
10 KCNJ11 NM_000525.3(KCNJ11): c.988T> C (p.Tyr330His) single nucleotide variant Pathogenic rs587783675 GRCh37 Chromosome 11, 17408651: 17408651
11 KCNJ11 NM_000525.3(KCNJ11): c.685G> A (p.Glu229Lys) single nucleotide variant Pathogenic rs587783673 GRCh38 Chromosome 11, 17387407: 17387407
12 KCNJ11 NM_000525.3(KCNJ11): c.679G> A (p.Glu227Lys) single nucleotide variant Pathogenic rs587783672 GRCh38 Chromosome 11, 17387413: 17387413
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 GRCh38 Chromosome 11, 64807890: 64807890

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
34 ICD10 via Orphanet
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54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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