MCID: SKT001
MIFTS: 23

Sakati Syndrome

Categories: Rare diseases

Aliases & Classifications for Sakati Syndrome

MalaCards integrated aliases for Sakati Syndrome:

Name: Sakati Syndrome 53 73
Acrocephalopolysyndactyly Type 3 53
Acps with Leg Hypoplasia 53
Sakati-Nyhan Syndrome 53
Acps 3 53

Classifications:



External Ids:

UMLS 73 C1275079

Summaries for Sakati Syndrome

MalaCards based summary : Sakati Syndrome, also known as acrocephalopolysyndactyly type 3, is related to woodhouse-sakati syndrome and collins sakati syndrome. An important gene associated with Sakati Syndrome is DCAF17 (DDB1 And CUL4 Associated Factor 17). The drugs Ephedrine and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, and related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

Related Diseases for Sakati Syndrome

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



Diseases related to Sakati Syndrome

Symptoms & Phenotypes for Sakati Syndrome

GenomeRNAi Phenotypes related to Sakati Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 DCAF17 TBCE

Drugs & Therapeutics for Sakati Syndrome

Drugs for Sakati Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 3 299-42-3 9294
2
Pseudoephedrine Approved Phase 3 90-82-4 7028
3
Theobromine Approved, Investigational Phase 3 83-67-0 5429
4
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
5
Chlorpheniramine Phase 3 113-92-8, 132-22-9 2725
6 Respiratory System Agents Phase 3
7 Adrenergic Agents Phase 3
8 Adrenergic Agonists Phase 3
9 Adrenergic alpha-Agonists Phase 3
10 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
11 Nasal Decongestants Phase 3
12 Neurotransmitter Agents Phase 3
13 Dipropizine Phase 3
14 Vasoconstrictor Agents Phase 3
15 Vasodilator Agents Phase 3
16 Anti-Asthmatic Agents Phase 3
17 Peripheral Nervous System Agents Phase 3
18 Expectorants Phase 3
19 Anti-Obesity Agents Phase 3
20 Antitussive Agents Phase 3
21 Autonomic Agents Phase 3
22 Appetite Depressants Phase 3
23 Bronchodilator Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial to Evaluate the Safety and Efficacy of "Theobromine Capsule" as an Antitussive in Acute Cougher Completed NCT01416480 Phase 3 Theobromine 300mg;Levodropropizine 10mg

Search NIH Clinical Center for Sakati Syndrome

Genetic Tests for Sakati Syndrome

Anatomical Context for Sakati Syndrome

MalaCards organs/tissues related to Sakati Syndrome:

41
Thyroid

Publications for Sakati Syndrome

Articles related to Sakati Syndrome:

(show all 43)
# Title Authors Year
1
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. ( 29494340 )
2018
2
Sanjad-Sakati Syndrome: Oral Health Care. ( 29533933 )
2018
3
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. ( 29574468 )
2018
4
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. ( 28096557 )
2016
5
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. ( 27240811 )
2016
6
Anesthetic management of a case of Sanjad-Sakati syndrome. ( 27833494 )
2016
7
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS). ( 26612766 )
2015
8
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
9
Sanjad-Sakati syndrome in a Tunisian child. ( 26231322 )
2015
10
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. ( 26440089 )
2015
11
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. ( 26336027 )
2015
12
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. ( 25436165 )
2014
13
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. ( 25097779 )
2014
14
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. ( 24464444 )
2014
15
Status epilepticus in a child with Sanjad Sakati syndrome. ( 23378547 )
2013
16
Sanjad-sakati syndrome dental management: a case report. ( 23533822 )
2013
17
Neurological manifestations in children with Sanjad-Sakati syndrome. ( 23807856 )
2013
18
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. ( 24015686 )
2013
19
Sanjad Sakati syndrome: a case series from Jordan. ( 22764442 )
2012
20
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). ( 23041407 )
2012
21
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. ( 21304230 )
2011
22
Sanjad-Sakati Syndrome in Sudanese children. ( 27493305 )
2011
23
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
2011
24
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
2011
25
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. ( 20507343 )
2010
26
Sanjad-Sakati syndrome in a neonate. ( 20519790 )
2010
27
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
28
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ( 21044051 )
2010
29
Case report: Sanjad--Sakati syndrome: dental findings and treatment. ( 20507815 )
2010
30
Sanjad-Sakati Syndrome in Omani children. ( 22043344 )
2010
31
The otolaryngologic features of Sanjad-Sakati syndrome. ( 19620595 )
2009
32
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ( 19554981 )
2009
33
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
34
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
2008
35
Woodhouse-Sakati syndrome: case report and symptoms review. ( 17710875 )
2007
36
Woodhouse Sakati syndrome associated with bilateral keratoconus. ( 16361682 )
2006
37
Ophthalmic manifestations of Sanjad-Sakati syndrome. ( 17050283 )
2006
38
Anesthesia management for the child with Sanjad-Sakati syndrome. ( 17040310 )
2006
39
The dentofacial features of Sanjad-Sakati syndrome: a case report. ( 15005702 )
2004
40
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. ( 15065107 )
2004
41
Woodhouse and Sakati syndrome (MIM 241080): report of a new patient. ( 10826625 )
2000
42
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. ( 10712106 )
2000
43
Woodhouse-Sakati Syndrome ( 27489925 )
1993

Variations for Sakati Syndrome

Expression for Sakati Syndrome

Search GEO for disease gene expression data for Sakati Syndrome.

Pathways for Sakati Syndrome

GO Terms for Sakati Syndrome

Sources for Sakati Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....