MCID: ACR106
MIFTS: 29

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 56 12
Sakati Syndrome 12 74 43 71
Sakati-Nyhan Syndrome 56 12 15
Acps with Leg Hypoplasia 56 12
Acrocephalopolysyndactyly Type 3 12
Sakati-Nyhan-Tisdale Syndrome 12
Acps Iii 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
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 : 74 Sakati-Nyhan-Tisdale syndrome, is a rare genetic disorder that has been associated with abnormalities in... more...

More information from OMIM: 101120

Related Diseases for Acrocephalopolysyndactyly Type Iii

Diseases in the Acrocephalopolysyndactyly Type Iii family:

Acrocephalopolysyndactyly Type Iv

Diseases related to Acrocephalopolysyndactyly Type Iii 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 obsolete: sakati-nyhan syndrome 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 Acrocephalopolysyndactyly Type Iii:



Diseases related to Acrocephalopolysyndactyly Type Iii

Symptoms & Phenotypes for Acrocephalopolysyndactyly Type Iii

Human phenotypes related to Acrocephalopolysyndactyly Type Iii:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 malar flattening 31 HP:0000272
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 short neck 31 HP:0000470
5 mandibular prognathia 31 HP:0000303
6 craniosynostosis 31 HP:0001363
7 broad thumb 31 HP:0011304
8 flat face 31 HP:0012368
9 abnormality of the pinna 31 HP:0000377
10 hypoplasia of the maxilla 31 HP:0000327
11 dental crowding 31 HP:0000678
12 preaxial hand polydactyly 31 HP:0001177
13 syndactyly 31 HP:0001159
14 small face 31 HP:0000274
15 lower limb undergrowth 31 HP:0009816
16 broad hallux 31 HP:0010055
17 shallow orbits 31 HP:0000586
18 oxycephaly 31 HP:0000263

Symptoms via clinical synopsis from OMIM:

56
Eyes:
hypertelorism
shallow orbits

Skull:
craniosynostosis
acrocephaly

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

Neck:
short neck with low hairline

Ears:
low-set ears
dysplastic ears

Teeth:
dental crowding

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:

40
Bone, Heart, Thyroid, Pituitary, Brain, Skin

Publications for Acrocephalopolysyndactyly Type Iii

Articles related to Acrocephalopolysyndactyly Type Iii:

(show top 50) (show all 66)
# Title Authors PMID Year
1
A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs. 56
4253694 1971
2
Patterns of neurological manifestations in Woodhouse-Sakati Syndrome. 61
31726291 2019
3
Woodhouse-Sakati Syndrome: First report of a Portuguese case. 61
31347785 2019
4
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature. 61
31472064 2019
5
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17. 61
31152917 2019
6
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene. 61
31323129 2019
7
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria. 61
30638765 2019
8
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome. 61
30409855 2018
9
Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome. 61
30080992 2018
10
Hypoparathyroidism in children: a study of eight cases. 61
30430523 2018
11
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 61
29494340 2018
12
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome. 61
29574468 2018
13
Sanjad-Sakati Syndrome: Oral Health Care. 61
29533933 2018
14
Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series. 61
28993435 2017
15
Deep Brain Stimulation in Rare Inherited Dystonias. 61
27743838 2016
16
Anesthetic management of a case of Sanjad-Sakati syndrome. 61
27833494 2016
17
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 61
26612766 2016
18
Woodhouse-Sakati Syndrome 61
27489925 2016
19
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. 61
27487380 2016
20
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation. 61
27240811 2016
21
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening. 61
28096557 2016
22
Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. 61
26440089 2015
23
Sanjad-Sakati syndrome in a Tunisian child. 61
26231322 2015
24
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin. 61
26336027 2015
25
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
26
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. 61
25097779 2014
27
Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. 61
25436165 2014
28
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature. 61
24464444 2014
29
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. 61
24015686 2014
30
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 61
23418071 2013
31
Status epilepticus in a child with Sanjad Sakati syndrome. 61
23378547 2013
32
Neurological manifestations in children with Sanjad-Sakati syndrome. 61
23807856 2013
33
Sanjad-sakati syndrome dental management: a case report. 61
23533822 2013
34
Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC). 61
23041407 2012
35
Sanjad Sakati syndrome: a case series from Jordan. 61
22764442 2012
36
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. 61
21963443 2011
37
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. 61
21964978 2011
38
Sanjad-Sakati Syndrome in Sudanese children. 61
27493305 2011
39
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. 61
21304230 2011
40
Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases. 61
21932595 2011
41
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. 61
21044051 2010
42
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. 61
20507343 2010
43
Sanjad-Sakati Syndrome in Omani children. 61
22043344 2010
44
Case report: Sanjad--Sakati syndrome: dental findings and treatment. 61
20507815 2010
45
Sanjad-Sakati syndrome in a neonate. 61
20519790 2010
46
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome. 61
20152369 2010
47
The otolaryngologic features of Sanjad-Sakati syndrome. 61
19620595 2009
48
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. 61
19554981 2009
49
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 61
19026396 2008
50
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. 61
18175354 2008

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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