MCID: WDH003
MIFTS: 47

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 54 23 50 24 25 71 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 71
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 71

Characteristics:

OMIM:

54
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 : 50 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, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities, is related to diabetes mellitus, insulin-dependent and diabetes mellitus, noninsulin-dependent, and has symptoms including dystonia, dysarthria and choreoathetosis. An important gene associated with Woodhouse-Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17). Affiliated tissues include thyroid, ovary and uterus.

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.

UniProtKB/Swiss-Prot : 71 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 243)
id Related Disease Score Top Affiliating Genes
1 diabetes mellitus, insulin-dependent 12.6
2 diabetes mellitus, noninsulin-dependent 12.5
3 diabetes mellitus, permanent neonatal 12.5
4 neonatal diabetes mellitus 12.4
5 diabetes mellitus, transient neonatal, 1 12.4
6 alopecia areata 12.4
7 diabetes mellitus, insulin-dependent, 20 12.3
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 alopecia universalis 12.3
12 diabetes mellitus, insulin-dependent, 19 12.3
13 diabetes mellitus, 6q24-related transient neonatal 12.3
14 diabetes mellitus, insulin-dependent, 5 12.3
15 diabetes mellitus, insulin-dependent, 7 12.3
16 diabetes mellitus, insulin-dependent, 23 12.3
17 diabetes mellitus, insulin-dependent, 21 12.3
18 diabetes mellitus, insulin-resistant, with acanthosis nigricans 12.3
19 diabetes mellitus, insulin-dependent, 24 12.3
20 diabetes mellitus, insulin-dependent, 17 12.3
21 diabetes mellitus, insulin-dependent, 11 12.3
22 diabetes mellitus, insulin-dependent, 3 12.3
23 diabetes mellitus, insulin-dependent, 4 12.3
24 diabetes mellitus, insulin-dependent, 18 12.3
25 diabetes mellitus, insulin-dependent, 6 12.3
26 diabetes mellitus, insulin-dependent, 15 12.3
27 diabetes mellitus, neonatal, with congenital hypothyroidism 12.3
28 type 1 diabetes mellitus 10 12.2
29 diabetes mellitus, ketosis-prone 12.2
30 hypogonadism 12.2
31 diabetes mellitus, transient neonatal, 3 12.2
32 diabetes mellitus, transient neonatal 2 12.2
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 12.2
34 alopecia totalis 12.2
35 hypogonadotropic hypogonadism 12.2
36 diabetes mellitus, noninsulin-dependent 1 12.1
37 diabetes, mellitus, insulin-dependent 10 12.1
38 frontal fibrosing alopecia 12.1
39 diabetes mellitus, insulin-dependent, 13 12.1
40 cerebellar ataxia and hypogonadotropic hypogonadism 12.1
41 mandibulofacial dysostosis with alopecia 12.1
42 hypogonadotropic hypogonadism 7 without anosmia 12.1
43 hypogonadotropic hypogonadism 1 with or without anosmia 12.1
44 hypogonadotropic hypogonadism 8 with or without anosmia 12.0
45 hypogonadotropic hypogonadism 16 with or without anosmia 12.0
46 hypogonadotropic hypogonadism 13 with or without anosmia 12.0
47 hypogonadotropic hypogonadism 9 with or without anosmia 12.0
48 hypogonadotropic hypogonadism 10 with or without anosmia 12.0
49 hypogonadotropic hypogonadism 15 with or without anosmia 12.0
50 hypogonadotropic hypogonadism 12 with or without anosmia 12.0

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:

54

Neurologic- Central Nervous System:
mental retardation
dystonia
dysarthria
choreoathetosis
progressive cognitive decline following normal development in childhood (in some patients)
more
Head And Neck- Ears:
deafness, sensorineural
prominent ears (in some patients)

Genitourinary:
hypogonadism

Genitourinary- Internal Genitalia Female:
hypoplastic uterus
streak ovaries
primary ovarian failure
rudimentary fallopian tubes

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

Laboratory- Abnormalities:
hyperlipidemia
decreased testosterone
decreased estradiol
decreased serum insulin-like growth factor 1 (igf1)
increased thyroid-stimulating hormone (tsh)
more
Genitourinary- Internal Genitalia Male:
small testes
testicular biopsy shows hypospermatogenesis
atrophic seminiferous tubules

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

Genitourinary- External Genitalia Male:
small penis

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

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
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

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 GRCh38 Chromosome 11, 17387104: 17387104
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 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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