MCID: SYN060
MIFTS: 30

Syndactyly, Type Iii malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Syndactyly, Type Iii

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Sources:
49OMIM, 11diseasecard, 65UMLS, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 49 11 65
Syndactyly Type 3 45 22 51 24
Ring and Little Finger Syndactyly 45 67
Syndactyly of Fingers Iv and V 22 67
Sdty3 45 67
Syndactyly of the Ring and Little Finger 45
 
Syndactyly of Fingers Four and Five 45
Syndactyly of Fingers 4 and 5 51
Syndactyly Type Iii 67
Syndactyly 3 67
Sd3 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 186100
Orphanet51 93404
ICD10 via Orphanet28 Q70.1
MESH via Orphanet37 C538154
UMLS via Orphanet66 C1861366
MedGen34 C1861366
MeSH36 D013576

Summaries for Syndactyly, Type Iii

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NIH Rare Diseases:45 Syndactyly type 3 (sd3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. in most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. there is evidence that sd3 is caused by mutations in the gja1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. sd3 is the characteristic digital abnormality in this condition. sd3 is inherited in an autosomal dominant manner. last updated: 6/3/2013

MalaCards based summary: Syndactyly, Type Iii, also known as syndactyly type 3, is related to oculodentodigital dysplasia, autosomal recessive and oculodentodigital dysplasia, and has symptoms including camptodactyly of finger, short toe and autosomal dominant inheritance. An important gene associated with Syndactyly, Type Iii is GJA1 (Gap Junction Protein, Alpha 1, 43kDa). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:67 Syndactyly 3: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

Description from OMIM:49 186100

Related Diseases for Syndactyly, Type Iii

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Graphical network of diseases related to Syndactyly, Type Iii:



Diseases related to syndactyly, type iii

Symptoms for Syndactyly, Type Iii

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Symptoms by clinical synopsis from OMIM:

186100

Clinical features from OMIM:

186100

Symptoms:

 51
  • syndactyly of fingers/interdigital palm
  • autosomal dominant inheritance
  • camptodactyly of some fingers
  • short foot/brachydactyly of toes

HPO human phenotypes related to Syndactyly, Type Iii:

(show all 6)
id Description Frequency HPO Source Accession
1 camptodactyly of finger typical (50%) HP:0100490
2 short toe occasional (7.5%) HP:0001831
3 autosomal dominant inheritance HP:0000006
4 absent middle phalanx of 5th finger HP:0009162
5 short 5th finger HP:0009237
6 4-5 finger syndactyly HP:0010705

Drugs & Therapeutics for Syndactyly, Type Iii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Syndactyly, Type Iii

Genetic Tests for Syndactyly, Type Iii

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Genetic tests related to Syndactyly, Type Iii:

id Genetic test Affiliating Genes
1 Syndactyly, Type Iii22 GJA1
2 Syndactyly Type 324

Anatomical Context for Syndactyly, Type Iii

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MalaCards organs/tissues related to Syndactyly, Type Iii:

33
Bone

Animal Models for Syndactyly, Type Iii or affiliated genes

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Publications for Syndactyly, Type Iii

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Articles related to Syndactyly, Type Iii:

idTitleAuthorsYear
1
Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family. (22826718)
2012
2
Familial syndactyly type III--report of a large pedigree. (8313625)
1993

Variations for Syndactyly, Type Iii

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UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Type Iii:

67
id Symbol AA change Variation ID SNP ID
1GJA1p.Gly143SerVAR_038361rs28931600

Clinvar genetic disease variations for Syndactyly, Type Iii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJA1NM_000165.4(GJA1): c.427G> A (p.Gly143Ser)single nucleotide variantPathogenicrs28931600GRCh37Chr 6, 121768420: 121768420

Expression for genes affiliated with Syndactyly, Type Iii

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Search GEO for disease gene expression data for Syndactyly, Type Iii.

Pathways for genes affiliated with Syndactyly, Type Iii

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GO Terms for genes affiliated with Syndactyly, Type Iii

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Sources for Syndactyly, Type Iii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet