MCID: ACR106
MIFTS: 31

Acrocephalopolysyndactyly Type Iii

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrocephalopolysyndactyly Type Iii

MalaCards integrated aliases for Acrocephalopolysyndactyly Type Iii:

Name: Acrocephalopolysyndactyly Type Iii 58 12
Sakati Syndrome 12 77 45 74
Sakati-Nyhan Syndrome 58 12 15
Acps with Leg Hypoplasia 58 12
Acrocephalopolysyndactyly Type 3 12
Sakati-Nyhan-Tisdale Syndrome 12
Acps Iii 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acrocephalopolysyndactyly type iii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrocephalopolysyndactyly Type Iii

Disease Ontology : 12 An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.

MalaCards based summary : Acrocephalopolysyndactyly Type Iii, also known as sakati syndrome, is related to woodhouse-sakati syndrome and hypoparathyroidism-retardation-dysmorphism syndrome. An important gene associated with Acrocephalopolysyndactyly Type Iii is DCAF17 (DDB1 And CUL4 Associated Factor 17). Affiliated tissues include bone, heart and thyroid, and related phenotypes are malar flattening and hypertelorism

Wikipedia : 77 Sakati–Nyhan–Tisdale syndrome, also called acrocephalopolysyndactyly type III, is a rare genetic... more...

Description from OMIM: 101120

Related Diseases for Acrocephalopolysyndactyly Type Iii

Graphical network of the top 20 diseases related to Acrocephalopolysyndactyly Type Iii:



Diseases related to Acrocephalopolysyndactyly Type Iii

Symptoms & Phenotypes for Acrocephalopolysyndactyly Type Iii

Human phenotypes related to Acrocephalopolysyndactyly Type Iii:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 hypertelorism 33 HP:0000316
3 low-set ears 33 HP:0000369
4 short neck 33 HP:0000470
5 mandibular prognathia 33 HP:0000303
6 broad thumb 33 HP:0011304
7 flat face 33 HP:0012368
8 abnormality of the pinna 33 HP:0000377
9 hypoplasia of the maxilla 33 HP:0000327
10 dental crowding 33 HP:0000678
11 craniosynostosis 33 HP:0001363
12 preaxial hand polydactyly 33 HP:0001177
13 syndactyly 33 HP:0001159
14 small face 33 HP:0000274
15 lower limb undergrowth 33 HP:0009816
16 broad hallux 33 HP:0010055
17 shallow orbits 33 HP:0000586
18 oxycephaly 33 HP:0000263

Symptoms via clinical synopsis from OMIM:

58
Eyes:
hypertelorism
shallow orbits

Teeth:
dental crowding

Limbs:
syndactyly
preaxial polydactyly
broad thumbs and broad great toes
hypoplastic legs

Neck:
short neck with low hairline

Ears:
low-set ears
dysplastic ears

Skull:
craniosynostosis
acrocephaly

Facies:
maxillary hypoplasia
flat facies
small facies
prognathism

Clinical features from OMIM:

101120

Drugs & Therapeutics for Acrocephalopolysyndactyly Type Iii

Search Clinical Trials , NIH Clinical Center for Acrocephalopolysyndactyly Type Iii

Cochrane evidence based reviews: sakati syndrome

Genetic Tests for Acrocephalopolysyndactyly Type Iii

Anatomical Context for Acrocephalopolysyndactyly Type Iii

MalaCards organs/tissues related to Acrocephalopolysyndactyly Type Iii:

42
Bone, Heart, Thyroid, Brain

Publications for Acrocephalopolysyndactyly Type Iii

Articles related to Acrocephalopolysyndactyly Type Iii:

(show all 46)
# Title Authors Year
1
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. ( 30638765 )
2019
2
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. ( 29494340 )
2018
3
Sanjad-Sakati Syndrome: Oral Health Care. ( 29533933 )
2018
4
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. ( 30409855 )
2018
5
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. ( 30080992 )
2018
6
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. ( 29574468 )
2018
7
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. ( 28096557 )
2016
8
Anesthetic management of a case of Sanjad-Sakati syndrome. ( 27833494 )
2016
9
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. ( 27240811 )
2016
10
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. ( 26336027 )
2015
11
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. ( 26440089 )
2015
12
Sanjad-Sakati syndrome in a Tunisian child. ( 26231322 )
2015
13
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
14
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome (WSS). ( 26612766 )
2015
15
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. ( 25436165 )
2014
16
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. ( 25097779 )
2014
17
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. ( 24464444 )
2014
18
Status epilepticus in a child with Sanjad Sakati syndrome. ( 23378547 )
2013
19
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. ( 24015686 )
2013
20
Neurological manifestations in children with Sanjad-Sakati syndrome. ( 23807856 )
2013
21
Sanjad-sakati syndrome dental management: a case report. ( 23533822 )
2013
22
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). ( 23041407 )
2012
23
Sanjad Sakati syndrome: a case series from Jordan. ( 22764442 )
2012
24
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. ( 21304230 )
2011
25
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )
2011
26
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. ( 21964978 )
2011
27
Sanjad-Sakati Syndrome in Sudanese children. ( 27493305 )
2011
28
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. ( 20507343 )
2010
29
Sanjad-Sakati syndrome in a neonate. ( 20519790 )
2010
30
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. ( 20152369 )
2010
31
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ( 21044051 )
2010
32
Sanjad-Sakati Syndrome in Omani children. ( 22043344 )
2010
33
Case report: Sanjad--Sakati syndrome: dental findings and treatment. ( 20507815 )
2010
34
The otolaryngologic features of Sanjad-Sakati syndrome. ( 19620595 )
2009
35
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. ( 19554981 )
2009
36
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. ( 18175354 )
2008
37
Three siblings with Woodhouse-Sakati syndrome in an Indian family. ( 18049083 )
2008
38
Woodhouse-Sakati syndrome: case report and symptoms review. ( 17710875 )
2007
39
Ophthalmic manifestations of Sanjad-Sakati syndrome. ( 17050283 )
2006
40
Anesthesia management for the child with Sanjad-Sakati syndrome. ( 17040310 )
2006
41
Woodhouse Sakati syndrome associated with bilateral keratoconus. ( 16361682 )
2006
42
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. ( 15065107 )
2004
43
The dentofacial features of Sanjad-Sakati syndrome: a case report. ( 15005702 )
2004
44
Woodhouse and Sakati syndrome (MIM 241080): report of a new patient. ( 10826625 )
2000
45
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. ( 10712106 )
2000
46
Woodhouse-Sakati Syndrome ( 27489925 )
1993

Variations for Acrocephalopolysyndactyly Type Iii

Expression for Acrocephalopolysyndactyly Type Iii

Search GEO for disease gene expression data for Acrocephalopolysyndactyly Type Iii.

Pathways for Acrocephalopolysyndactyly Type Iii

GO Terms for Acrocephalopolysyndactyly Type Iii

Sources for Acrocephalopolysyndactyly Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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