MCID: OBS199
MIFTS: 16

Obsolete: Sakati-Nyhan Syndrome

Categories: Rare diseases

Aliases & Classifications for Obsolete: Sakati-Nyhan Syndrome

MalaCards integrated aliases for Obsolete: Sakati-Nyhan Syndrome:

Name: Obsolete: Sakati-Nyhan Syndrome 58
Acrocephalopolysyndactyly Type 3 58
Sakati-Nyhan-Tisdale Syndrome 58
Acps with Leg Hypoplasia 58
Sakati Syndrome 58
Acps Iii 58

Characteristics:

Orphanet epidemiological data:

58
obsolete: sakati-nyhan syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 58 ORPHA3128

Summaries for Obsolete: Sakati-Nyhan Syndrome

MalaCards based summary : Obsolete: Sakati-Nyhan Syndrome, also known as acrocephalopolysyndactyly type 3, is related to woodhouse-sakati syndrome and hypoparathyroidism-retardation-dysmorphism syndrome. Affiliated tissues include thyroid, pituitary and brain.

Related Diseases for Obsolete: Sakati-Nyhan Syndrome

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 woodhouse-sakati syndrome 12.9
2 hypoparathyroidism-retardation-dysmorphism syndrome 12.2
3 collins sakati syndrome 12.2
4 hypoparathyroidism-intellectual disability-dysmorphism syndrome 11.6
5 acrocephalopolysyndactyly type iii 11.4
6 saethre-chotzen syndrome 11.2
7 hypoparathyroidism 10.6
8 autosomal recessive disease 10.6
9 hypogonadism 10.6
10 hypogonadotropism 10.6
11 alopecia 10.6
12 alacrima, achalasia, and mental retardation syndrome 10.4
13 branchiootic syndrome 1 10.4
14 microcephaly 10.3
15 hypothyroidism 10.3
16 dystonia 10.3
17 sensorineural hearing loss 10.3
18 amenorrhea 10.3
19 hypogonadotropic hypogonadism 10.2
20 kenny-caffey syndrome 10.2
21 kenny-caffey syndrome, type 1 10.1
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
23 hyperphosphatemia 10.1
24 movement disease 10.1
25 dwarfism 10.1
26 dysphagia 10.1
27 hashimoto thyroiditis 10.0
28 visceral myopathy 10.0
29 strabismus 10.0
30 thrombocytopenic purpura, autoimmune 10.0
31 astigmatism 10.0
32 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
33 chorea, childhood-onset, with psychomotor retardation 10.0
34 deficiency anemia 10.0
35 congenital hypothyroidism 10.0
36 tooth agenesis 10.0
37 keratoconus 10.0
38 monocular esotropia 10.0
39 leukodystrophy 10.0
40 microphthalmia 10.0
41 alternating exotropia 10.0
42 exotropia 10.0
43 visual epilepsy 10.0
44 choreatic disease 10.0
45 status epilepticus 10.0
46 dental caries 10.0
47 macrocytic anemia 10.0
48 retinal vascular disease 10.0
49 purpura 10.0
50 superior mesenteric artery syndrome 10.0

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



Diseases related to Obsolete: Sakati-Nyhan Syndrome

Symptoms & Phenotypes for Obsolete: Sakati-Nyhan Syndrome

Drugs & Therapeutics for Obsolete: Sakati-Nyhan Syndrome

Search Clinical Trials , NIH Clinical Center for Obsolete: Sakati-Nyhan Syndrome

Genetic Tests for Obsolete: Sakati-Nyhan Syndrome

Anatomical Context for Obsolete: Sakati-Nyhan Syndrome

MalaCards organs/tissues related to Obsolete: Sakati-Nyhan Syndrome:

40
Thyroid, Pituitary, Brain

Publications for Obsolete: Sakati-Nyhan Syndrome

Articles related to Obsolete: Sakati-Nyhan Syndrome:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome. 61
31726291 2019
2
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature. 61
31472064 2019
3
Woodhouse-Sakati Syndrome: First report of a Portuguese case. 61
31347785 2019
4
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17. 61
31152917 2019
5
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. 61
31323129 2019
6
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 61
30638765 2019
7
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. 61
30409855 2018
8
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 61
30080992 2018
9
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
10
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 61
29494340 2018
11
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. 61
29574468 2018
12
Sanjad-Sakati Syndrome: Oral Health Care. 61
29533933 2018
13
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 61
28993435 2017
14
Deep Brain Stimulation in Rare Inherited Dystonias. 61
27743838 2016
15
Anesthetic management of a case of Sanjad-Sakati syndrome. 61
27833494 2016
16
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 61
26612766 2016
17
Woodhouse-Sakati Syndrome 61
27489925 2016
18
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. 61
27487380 2016
19
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. 61
27240811 2016
20
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 61
28096557 2016
21
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. 61
26440089 2015
22
Sanjad-Sakati syndrome in a Tunisian child. 61
26231322 2015
23
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. 61
26336027 2015
24
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome. 61
26664771 2015
25
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 61
25097779 2014
26
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 61
25436165 2014
27
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. 61
24464444 2014
28
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. 61
24015686 2014
29
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 61
23418071 2013
30
Status epilepticus in a child with Sanjad Sakati syndrome. 61
23378547 2013
31
Neurological manifestations in children with Sanjad-Sakati syndrome. 61
23807856 2013
32
Sanjad-sakati syndrome dental management: a case report. 61
23533822 2013
33
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 61
23041407 2012
34
Sanjad Sakati syndrome: a case series from Jordan. 61
22764442 2012
35
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. 61
21963443 2011
36
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 61
21964978 2011
37
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. 61
21304230 2011
38
Sanjad-Sakati Syndrome in Sudanese children. 61
27493305 2011
39
Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases. 61
21932595 2011
40
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. 61
21044051 2010
41
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 61
20507343 2010
42
Sanjad-Sakati Syndrome in Omani children. 61
22043344 2010
43
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 61
20507815 2010
44
Sanjad-Sakati syndrome in a neonate. 61
20519790 2010
45
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 61
20152369 2010
46
The otolaryngologic features of Sanjad-Sakati syndrome. 61
19620595 2009
47
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
48
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 61
19026396 2008
49
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. 61
18175354 2008
50
Three siblings with Woodhouse-Sakati syndrome in an Indian family. 61
18049083 2008

Variations for Obsolete: Sakati-Nyhan Syndrome

Expression for Obsolete: Sakati-Nyhan Syndrome

Search GEO for disease gene expression data for Obsolete: Sakati-Nyhan Syndrome.

Pathways for Obsolete: Sakati-Nyhan Syndrome

GO Terms for Obsolete: Sakati-Nyhan Syndrome

Sources for Obsolete: Sakati-Nyhan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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18 ExPASy
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29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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