MCID: SYN060
MIFTS: 26

Syndactyly, Type Iii malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Syndactyly, Type Iii

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 52 24 12 68
Ring and Little Finger Syndactyly 48 70
Syndactyly of Fingers Iv and V 24 70
Syndactyly Type Iii 70 27
Syndactyly Type 3 48 54
Sdty3 48 70
 
Syndactyly of the Ring and Little Finger 48
Syndactyly of Fingers Four and Five 48
Syndactyly of Fingers 4 and 5 54
Syndactyly 3 70
Sd3 54

Characteristics:

Orphanet epidemiological data:

54
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
syndactyly, type iii:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 186100
Orphanet54 ORPHA93404
MESH via Orphanet40 C538154
UMLS via Orphanet69 C1861366
ICD10 via Orphanet31 Q70.1
MedGen37 C1861366
MeSH39 D013576

Summaries for Syndactyly, Type Iii

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NIH Rare Diseases:48 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 ring and little finger syndactyly, is related to oculodentodigital dysplasia and oculodentodigital dysplasia, autosomal recessive, and has symptoms including camptodactyly of finger, short toe and absent middle phalanx of 5th finger. An important gene associated with Syndactyly, Type Iii is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include bone and heart.

UniProtKB/Swiss-Prot:70 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:52 186100

Related Diseases for Syndactyly, Type Iii

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Diseases in the Syndactyly, Type V family:

syndactyly, type iii Syndactyly, Type Iv
Syndactyly Type 6

Diseases related to Syndactyly, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia11.1
2oculodentodigital dysplasia, autosomal recessive10.9
3saethre-chotzen syndrome10.8
4heart disease9.7

Symptoms & Phenotypes for Syndactyly, Type Iii

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Symptoms by clinical synopsis from OMIM:

186100

Clinical features from OMIM:

186100

Human phenotypes related to Syndactyly, Type Iii:

 64 54 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 camptodactyly of finger64 54 typical (50%) Frequent (79-30%) HP:0100490
2 short toe64 54 occasional (7.5%) Occasional (29-5%) HP:0001831
3 absent middle phalanx of 5th finger64 HP:0009162
4 short 5th finger64 HP:0009237
5 4-5 finger syndactyly64 HP:0010705
6 finger syndactyly54 Very frequent (99-80%)

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 327
2 Syndactyly, Type Iii24 GJA1

Anatomical Context for Syndactyly, Type Iii

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MalaCards organs/tissues related to Syndactyly, Type Iii:

36
Bone, Heart

Publications for Syndactyly, Type Iii

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Articles related to Syndactyly, Type Iii:

idTitleAuthorsYear
1
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. (27966732)
2016
2
Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family. (22826718)
2012
3
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:

70
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)SNVPathogenicrs28931600GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet