WDSKS
MCID: WDH003
MIFTS: 41

Woodhouse-Sakati Syndrome (WDSKS)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Woodhouse-Sakati Syndrome

MalaCards integrated aliases for Woodhouse-Sakati Syndrome:

Name: Woodhouse-Sakati Syndrome 57 12 73 25 20 43 58 72 36 13
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome 57 12 43 72
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome 12 20 43 58
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities 43 29 6
Extrapyramidal Disorder, Progressive, with Primary Hypogonadism, Mental Retardation, and Alopecia 57 43 72
Woodhouse Sakati Syndrome 20 44 70
Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome 12 58
Wdsks 57 72
Progressive Extrapyramidal Disorder with Primary Hypogonadism, Mental Retardation, Alopecia 12
Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome 25
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome 43
Syndrome, Woodhouse-Sakati 39
Wss 43

Characteristics:

Orphanet epidemiological data:

58
woodhouse-sakati syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Woodhouse-Sakati Syndrome

MedlinePlus Genetics : 43 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.People with Woodhouse-Sakati syndrome produce abnormally low amounts of hormones that direct sexual development (hypogonadism), which typically becomes apparent during adolescence. Without hormone replacement therapy, affected individuals do not develop secondary sexual characteristics such as pubic hair, breast growth in females, or a deepening voice in males. Females with Woodhouse-Sakati syndrome do not have functional ovaries and may instead have undeveloped clumps of tissue called streak gonads. The uterus may also be small or absent in affected females. Males with this disorder have testes that produce little to no sperm. As a result, people with Woodhouse-Sakati syndrome usually have an inability to conceive children (infertility).By their mid-twenties, almost all affected individuals develop diabetes mellitus, and they may also have reduced production of thyroid hormones (hypothyroidism). People with Woodhouse-Sakati syndrome also experience hair loss beginning in childhood that gradually gets worse, often resulting in the loss of all scalp hair (alopecia totalis) during adulthood. Eyelashes and eyebrows are sparse or absent, and affected men have little or no facial hair. Some affected individuals have additional characteristic facial features including a long, triangular face; widely spaced eyes (hypertelorism); and a prominent bridge of the nose.More than half of people with Woodhouse-Sakati syndrome have neurological problems. A group of movement abnormalities called dystonias are common in affected individuals, generally beginning in adolescence or young adulthood. These movement abnormalities can include involuntary tensing of the muscles (muscle contractions) or twisting of specific body parts such as an arm or a leg. Other neurological features can include difficulty with speech (dysarthria) or swallowing (dysphagia), mild intellectual disability, and hearing loss caused by changes in the inner ears (sensorineural hearing loss). The hearing problems develop after the individual has acquired spoken language (post-lingual), usually in adolescence.In some affected individuals, abnormal deposits of iron in the brain have been detected with medical imaging. For this reason, Woodhouse-Sakati syndrome is sometimes classified as part of a group of disorders called neurodegeneration with brain iron accumulation (NBIA).

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

Disease Ontology : 12 A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has material basis in homozygous or compound heterozygous mutation in DCAF17 on chromosome 2q31.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3464 Definition Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Epidemiology Approximately 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 description The 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. Etiology Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. Genetic counseling The disease is transmitted in an autosomal recessive manner.

KEGG : 36 Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein.

UniProtKB/Swiss-Prot : 72 Woodhouse-Sakati syndrome: A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Wikipedia : 73 Woodhouse-Sakati syndrome, is a rare autosomal recessive multisystem disorder which causes malformations... more...

More information 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 all 46)
# Related Disease Score Top Affiliating Genes
1 alopecia 30.6 METTL8 DCAF17
2 wrinkly skin syndrome 11.5
3 wiedemann-steiner syndrome 11.5
4 weaver syndrome 11.3
5 acrocephalopolysyndactyly type iii 10.8
6 hypogonadism 10.8
7 branchiootic syndrome 1 10.6
8 alacrima, achalasia, and mental retardation syndrome 10.6
9 autosomal recessive disease 10.5
10 dystonia 10.5
11 sensorineural hearing loss 10.5
12 amenorrhea 10.5
13 hypothyroidism 10.5
14 hypogonadotropic hypogonadism 10.4
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
16 movement disease 10.3
17 dysphagia 10.3
18 aneurysm 10.2
19 thrombocytopenic purpura, autoimmune 10.2
20 chorea, childhood-onset, with psychomotor retardation 10.2
21 keratoconus 10.2
22 leukodystrophy 10.2
23 microcephaly 10.2
24 choreatic disease 10.2
25 purpura 10.2
26 hypotrichosis 10.2
27 pituitary hypoplasia 10.2
28 learning disability 10.2
29 alopecia totalis 10.2
30 central congenital hypothyroidism 10.2
31 slti salem syndrome 10.2
32 spastic paraparesis 10.2
33 premature aging 10.2
34 polyendocrinopathy 10.2
35 intracranial aneurysm 10.1
36 atherosclerosis susceptibility 10.0
37 carotid stenosis 10.0
38 coarctation of aorta 9.9
39 pulmonary hypertension, primary, 1 9.9
40 scleroderma, familial progressive 9.9
41 stroke, ischemic 9.9
42 thrombosis 9.9
43 vascular disease 9.9
44 cerebral aneurysms 9.9
45 pulmonary arterial hypertension associated with another disease 9.9
46 diabetes mellitus 9.5 METTL8 DCAF17

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



Diseases related to Woodhouse-Sakati Syndrome

Symptoms & Phenotypes for Woodhouse-Sakati Syndrome

Human phenotypes related to Woodhouse-Sakati Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
6 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
7 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
8 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
9 hyperlipidemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003077
10 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
11 protruding ear 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000411
12 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
13 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
14 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
15 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
16 choreoathetosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001266
17 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
18 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
19 streak ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0010464
20 hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000013
21 abnormal t-wave 58 31 hallmark (90%) Very frequent (99-80%) HP:0005135
22 bilateral sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008619
23 abnormal spermatogenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008669
24 insulin-resistant diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000831
25 hypoplasia of the fallopian tube 58 31 hallmark (90%) Very frequent (99-80%) HP:0008697
26 premature ovarian insufficiency 31 hallmark (90%) HP:0008209
27 decreased serum testosterone level 31 hallmark (90%) HP:0040171
28 decreased response to growth hormone stimuation test 31 hallmark (90%) HP:0000824
29 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
30 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
31 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
32 prominent nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000448
33 anodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000674
34 scaling skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0040189
35 prominent nasal bridge 31 occasional (7.5%) HP:0000426
36 intellectual disability 31 HP:0001249
37 diabetes mellitus 31 HP:0000819
38 sensorineural hearing impairment 31 HP:0000407
39 growth delay 58 Very frequent (99-80%)
40 fine hair 31 HP:0002213
41 abnormality of extrapyramidal motor function 31 HP:0002071
42 sparse hair 31 HP:0008070
43 hypergonadotropic hypogonadism 31 HP:0000815
44 growth hormone deficiency 58 Very frequent (99-80%)
45 decreased testosterone in males 58 Very frequent (99-80%)
46 decreased serum insulin-like growth factor 1 31 HP:0030353
47 increased thyroid-stimulating hormone level 31 HP:0002925
48 primary ovarian failure 58 Very frequent (99-80%)
49 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
dystonia
choreoathetosis
mental retardation
psychosis (rare)
more
Laboratory Abnormalities:
hyperlipidemia
decreased testosterone
decreased estradiol
decreased serum insulin-like growth factor 1 (igf1)
increased thyroid-stimulating hormone (tsh)
more
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

Genitourinary:
hypogonadism

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 (Updated 20-May-2021)

UMLS symptoms related to Woodhouse-Sakati Syndrome:


abnormality of extrapyramidal motor function

Drugs & Therapeutics for Woodhouse-Sakati Syndrome

Search Clinical Trials , NIH Clinical Center for Woodhouse-Sakati Syndrome

Cochrane evidence based reviews: woodhouse sakati syndrome

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 29 DCAF17

Anatomical Context for Woodhouse-Sakati Syndrome

MalaCards organs/tissues related to Woodhouse-Sakati Syndrome:

40
Uterus, Testes, Ovary, Pituitary, Thyroid, Brain, Skin

Publications for Woodhouse-Sakati Syndrome

Articles related to Woodhouse-Sakati Syndrome:

(show all 43)
# Title Authors PMID Year
1
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. 25 57 6 61
21044051 2010
2
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 6 61 57 25
20507343 2010
3
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 25 61 6 57
19026396 2008
4
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. 61 6 57 25
18175354 2008
5
Three siblings with Woodhouse-Sakati syndrome in an Indian family. 57 6 25 61
18049083 2008
6
Woodhouse-Sakati syndrome: case report and symptoms review. 61 6 25 57
17710875 2007
7
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. 57 6 25
6876115 1983
8
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 61 6 25
26612766 2016
9
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. 61 6 25
24015686 2014
10
Woodhouse and Sakati syndrome (MIM 241080): report of a new patient. 61 25 57
10826625 2000
11
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. 25 57
17167799 2007
12
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome? 57 25
8779325 1996
13
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. 6 61
26664771 2015
14
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
15
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. 61 25
27240811 2016
16
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. 61 25
26440089 2015
17
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. 61 25
24464444 2014
18
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. 61 25
21963443 2011
19
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 61 25
21964978 2011
20
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. 25 61
21304230 2011
21
Woodhouse Sakati syndrome associated with bilateral keratoconus. 61 25
16361682 2006
22
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 25
27124789 2016
23
Surgery for Dystonia and Tremor. 25
26838349 2016
24
Therapeutic advances in dystonia. 25
26301801 2015
25
Genetics of neurodegeneration with brain iron accumulation. 25
21286947 2011
26
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review. 25
19213036 2009
27
Bilateral, pallidal, deep-brain stimulation in primary generalised dystonia: a prospective 3 year follow-up study. 25
17303528 2007
28
Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings. 25
12749067 2003
29
Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females. 25
4061495 1985
30
Familial hypogonadotropic hypogonadism with alopecia. 25
466617 1979
31
A familial syndrome of deafness, alopecia, and hypogonadism. 25
4698933 1973
32
Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome. 61
33417382 2020
33
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. 61
31323129 2020
34
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome. 61
31726291 2019
35
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature. 61
31472064 2019
36
Woodhouse-Sakati Syndrome: First report of a Portuguese case. 61
31347785 2019
37
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17. 61
31152917 2019
38
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. 61
30409855 2018
39
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. 61
29574468 2018
40
Deep Brain Stimulation in Rare Inherited Dystonias. 61
27743838 2016
41
Woodhouse-Sakati Syndrome 61
27489925 2016
42
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. 61
27487380 2016
43
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 61
23418071 2013

Variations for Woodhouse-Sakati Syndrome

ClinVar genetic disease variations for Woodhouse-Sakati Syndrome:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DCAF17 , METTL8 NM_025000.4(DCAF17):c.50del (p.Ala17fs) Deletion Pathogenic 531 rs1559245286 GRCh37: 2:172291137-172291137
GRCh38: 2:171434627-171434627
2 DCAF17 NM_025000.4(DCAF17):c.1422+5G>T SNV Pathogenic 532 rs1314048356 GRCh37: 2:172336708-172336708
GRCh38: 2:171480198-171480198
3 DCAF17 NM_025000.4(DCAF17):c.1091+6T>G SNV Pathogenic 533 rs1559289651 GRCh37: 2:172330491-172330491
GRCh38: 2:171473981-171473981
4 DCAF17 NM_025000.4(DCAF17):c.387G>A (p.Trp129Ter) SNV Pathogenic 31580 rs1559264135 GRCh37: 2:172305256-172305256
GRCh38: 2:171448746-171448746
5 DCAF17 NM_025000.4(DCAF17):c.906G>A (p.Trp302Ter) SNV Pathogenic 31581 rs761229686 GRCh37: 2:172325465-172325465
GRCh38: 2:171468955-171468955
6 DCAF17 NM_025000.4(DCAF17):c.341C>A (p.Ser114Ter) SNV Pathogenic 31582 rs760978794 GRCh37: 2:172305210-172305210
GRCh38: 2:171448700-171448700
7 DCAF17 NM_025000.4(DCAF17):c.127-3_127-1delinsAA Indel Pathogenic 31583 rs1574303761 GRCh37: 2:172291590-172291592
GRCh38: 2:171435080-171435082
8 DCAF17 NM_025000.4(DCAF17):c.436del (p.Ala147fs) Deletion Pathogenic 209146 rs797045038 GRCh37: 2:172305305-172305305
GRCh38: 2:171448795-171448795
9 DCAF17 NM_025000.4(DCAF17):c.289dup (p.Ile97fs) Duplication Pathogenic 216916 rs863224865 GRCh37: 2:172300085-172300086
GRCh38: 2:171443575-171443576
10 DCAF17 NM_025000.4(DCAF17):c.270del (p.Lys90fs) Deletion Pathogenic 212711 rs879253799 GRCh37: 2:172300069-172300069
GRCh38: 2:171443559-171443559
11 DCAF17 , METTL8 NM_025000.4(DCAF17):c.85C>T (p.Gln29Ter) SNV Pathogenic 571994 rs868533593 GRCh37: 2:172291172-172291172
GRCh38: 2:171434662-171434662
12 DCAF17 NM_025000.4(DCAF17):c.1204dup (p.Thr402fs) Duplication Pathogenic 957844 GRCh37: 2:172334517-172334518
GRCh38: 2:171478007-171478008
13 DCAF17 NM_025000.4(DCAF17):c.982-2A>C SNV Likely pathogenic 582382 rs780493577 GRCh37: 2:172330374-172330374
GRCh38: 2:171473864-171473864
14 DCAF17 NM_025000.4(DCAF17):c.270dup (p.Cys91fs) Duplication Likely pathogenic 632550 rs879253799 GRCh37: 2:172300068-172300069
GRCh38: 2:171443558-171443559
15 DCAF17 NM_025000.4(DCAF17):c.580C>T (p.Arg194Ter) SNV Likely pathogenic 804389 rs1470826074 GRCh37: 2:172309676-172309676
GRCh38: 2:171453166-171453166
16 DCAF17 , METTL8 NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) SNV Conflicting interpretations of pathogenicity 698382 rs748586810 GRCh37: 2:172291182-172291182
GRCh38: 2:171434672-171434672
17 DCAF17 NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) SNV Conflicting interpretations of pathogenicity 332269 rs78488864 GRCh37: 2:172330424-172330424
GRCh38: 2:171473914-171473914
18 DCAF17 NM_025000.4(DCAF17):c.792T>C (p.Thr264=) SNV Conflicting interpretations of pathogenicity 332267 rs199742600 GRCh37: 2:172314941-172314941
GRCh38: 2:171458431-171458431
19 DCAF17 NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) SNV Conflicting interpretations of pathogenicity 332265 rs202231211 GRCh37: 2:172306463-172306463
GRCh38: 2:171449953-171449953
20 DCAF17 NM_025000.4(DCAF17):c.*2623T>G SNV Uncertain significance 332303 rs886055115 GRCh37: 2:172340247-172340247
GRCh38: 2:171483737-171483737
21 DCAF17 NM_025000.4(DCAF17):c.*808T>A SNV Uncertain significance 332283 rs886055108 GRCh37: 2:172338432-172338432
GRCh38: 2:171481922-171481922
22 DCAF17 NM_025000.4(DCAF17):c.214C>T (p.Arg72Trp) SNV Uncertain significance 332263 rs886055106 GRCh37: 2:172291680-172291680
GRCh38: 2:171435170-171435170
23 DCAF17 , METTL8 NM_025000.4(DCAF17):c.-111G>T SNV Uncertain significance 332258 rs80336595 GRCh37: 2:172290977-172290977
GRCh38: 2:171434467-171434467
24 DCAF17 NM_025000.4(DCAF17):c.*1531T>C SNV Uncertain significance 332288 rs537066061 GRCh37: 2:172339155-172339155
GRCh38: 2:171482645-171482645
25 DCAF17 NM_025000.4(DCAF17):c.*1165C>G SNV Uncertain significance 332285 rs886055109 GRCh37: 2:172338789-172338789
GRCh38: 2:171482279-171482279
26 DCAF17 NM_025000.4(DCAF17):c.137A>T (p.Lys46Ile) SNV Uncertain significance 332261 rs375426959 GRCh37: 2:172291603-172291603
GRCh38: 2:171435093-171435093
27 DCAF17 NM_025000.4(DCAF17):c.*2202A>G SNV Uncertain significance 332294 rs886055114 GRCh37: 2:172339826-172339826
GRCh38: 2:171483316-171483316
28 DCAF17 NM_025000.4(DCAF17):c.*1841G>T SNV Uncertain significance 332291 rs114519296 GRCh37: 2:172339465-172339465
GRCh38: 2:171482955-171482955
29 DCAF17 NM_025000.4(DCAF17):c.*48A>T SNV Uncertain significance 332274 rs753380867 GRCh37: 2:172337672-172337672
GRCh38: 2:171481162-171481162
30 DCAF17 , METTL8 NM_025000.4(DCAF17):c.-206C>G SNV Uncertain significance 332255 rs886055103 GRCh37: 2:172290882-172290882
GRCh38: 2:171434372-171434372
31 DCAF17 NM_025000.4(DCAF17):c.*3835A>G SNV Uncertain significance 332317 rs886055119 GRCh37: 2:172341459-172341459
GRCh38: 2:171484949-171484949
32 DCAF17 NM_025000.4(DCAF17):c.*1747C>A SNV Uncertain significance 332290 rs747014569 GRCh37: 2:172339371-172339371
GRCh38: 2:171482861-171482861
33 DCAF17 , METTL8 NM_025000.4(DCAF17):c.-243C>G SNV Uncertain significance 332254 rs886055102 GRCh37: 2:172290845-172290845
GRCh38: 2:171434335-171434335
34 DCAF17 NM_025000.4(DCAF17):c.*1485_*1486AG[1] Microsatellite Uncertain significance 332287 rs886055111 GRCh37: 2:172339109-172339110
GRCh38: 2:171482599-171482600
35 DCAF17 , METTL8 NM_025000.4(DCAF17):c.-198T>C SNV Uncertain significance 332257 rs886055104 GRCh37: 2:172290890-172290890
GRCh38: 2:171434380-171434380
36 DCAF17 NM_025000.4(DCAF17):c.*2312G>A SNV Uncertain significance 332296 rs777311799 GRCh37: 2:172339936-172339936
GRCh38: 2:171483426-171483426
37 DCAF17 NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys) SNV Uncertain significance 332262 rs201346228 GRCh37: 2:172291650-172291650
GRCh38: 2:171435140-171435140
38 DCAF17 NM_025000.4(DCAF17):c.*2380A>G SNV Uncertain significance 332299 rs553179661 GRCh37: 2:172340004-172340004
GRCh38: 2:171483494-171483494
39 DCAF17 NM_025000.4(DCAF17):c.*126A>T SNV Uncertain significance 332276 rs139116642 GRCh37: 2:172337750-172337750
GRCh38: 2:171481240-171481240
40 DCAF17 NM_025000.4(DCAF17):c.1091+13A>G SNV Uncertain significance 332270 rs886055107 GRCh37: 2:172330498-172330498
GRCh38: 2:171473988-171473988
41 DCAF17 NM_025000.4(DCAF17):c.*2971A>G SNV Uncertain significance 332308 rs576169953 GRCh37: 2:172340595-172340595
GRCh38: 2:171484085-171484085
42 DCAF17 NM_025000.4(DCAF17):c.*3008_*3011TTGT[1] Microsatellite Uncertain significance 332310 rs374810983 GRCh37: 2:172340631-172340634
GRCh38: 2:171484121-171484124
43 DCAF17 NM_025000.4(DCAF17):c.913A>G (p.Ile305Val) SNV Uncertain significance 332268 rs114419034 GRCh37: 2:172325472-172325472
GRCh38: 2:171468962-171468962
44 DCAF17 NM_025000.4(DCAF17):c.230+15A>G SNV Uncertain significance 332264 rs778241115 GRCh37: 2:172291711-172291711
GRCh38: 2:171435201-171435201
45 DCAF17 NM_025000.4(DCAF17):c.*2965_*2967TTC[3] Microsatellite Uncertain significance 332307 rs886055117 GRCh37: 2:172340588-172340589
GRCh38: 2:171484078-171484079
46 DCAF17 NM_025000.4(DCAF17):c.*2747C>T SNV Uncertain significance 332304 rs886055116 GRCh37: 2:172340371-172340371
GRCh38: 2:171483861-171483861
47 DCAF17 NM_025000.4(DCAF17):c.*2066A>G SNV Uncertain significance 332292 rs886055113 GRCh37: 2:172339690-172339690
GRCh38: 2:171483180-171483180
48 DCAF17 NM_025000.4(DCAF17):c.*105A>G SNV Uncertain significance 332275 rs551802113 GRCh37: 2:172337729-172337729
GRCh38: 2:171481219-171481219
49 DCAF17 NM_025000.4(DCAF17):c.1426T>C (p.Tyr476His) SNV Uncertain significance 332272 rs142735693 GRCh37: 2:172337487-172337487
GRCh38: 2:171480977-171480977
50 DCAF17 NM_025000.4(DCAF17):c.*3880G>T SNV Uncertain significance 332318 rs754667938 GRCh37: 2:172341504-172341504
GRCh38: 2:171484994-171484994

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
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