MCID: SYN060
MIFTS: 28

Syndactyly, Type Iii malady

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

Aliases & Classifications for Syndactyly, Type Iii

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Sources:
50OMIM, 23GeneTests, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 50 23 12 66
Ring and Little Finger Syndactyly 46 68
Syndactyly of Fingers Iv and V 23 68
Syndactyly Type Iii 68 25
Syndactyly Type 3 46 52
Sdty3 46 68
 
Syndactyly of the Ring and Little Finger 46
Syndactyly of Fingers Four and Five 46
Syndactyly of Fingers 4 and 5 52
Syndactyly 3 68
Sd3 52

Characteristics:

Orphanet epidemiological data:

52
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
syndactyly, type iii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 186100
Orphanet52 ORPHA93404
ICD10 via Orphanet29 Q70.1
MESH via Orphanet38 C538154
UMLS via Orphanet67 C1861366
MedGen35 C1861366
MeSH37 D013576

Summaries for Syndactyly, Type Iii

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NIH Rare Diseases:46 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, autosomal recessive and saethre-chotzen syndrome, 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.

UniProtKB/Swiss-Prot:68 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:50 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:

 52
  • short toe
  • finger syndactyly
  • camptodactyly of finger

HPO human phenotypes related to Syndactyly, Type Iii:

id Description Frequency HPO Source Accession
1 camptodactyly of finger typical (50%) HP:0100490
2 short toe occasional (7.5%) HP:0001831
3 absent middle phalanx of 5th finger HP:0009162
4 short 5th finger HP:0009237
5 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 325
2 Syndactyly, Type Iii23 GJA1

Anatomical Context for Syndactyly, Type Iii

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MalaCards organs/tissues related to Syndactyly, Type Iii:

34
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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet