MCID: SYN060
MIFTS: 27

Syndactyly, Type Iii malady

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

Aliases & Classifications for Syndactyly, Type Iii

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 46 9 61
Syndactyly Type 3 42 20 48 22
Syndactyly of Fingers 4 and 5 42 48
Sd3 42 48
 
Syndactyly of the Ring and Little Finger 42
Syndactyly of Fingers Four and Five 42
Ring and Little Finger Syndactyly 42
Sdty3 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM46 186100
Orphanet48 93404
MESH via Orphanet34 C538154
ICD10 via Orphanet26 Q70.1
UMLS via Orphanet62 C1861366

Summaries for Syndactyly, Type Iii

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NIH Rare Diseases:42 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 and syndactyly, and has symptoms including finger syndactyly, camptodactyly of finger and short toe. An important gene associated with Syndactyly, Type Iii is GJA1 (gap junction protein, alpha 1, 43kDa). Affiliated tissues include bone.

Description from OMIM:46 186100

Related Diseases for Syndactyly, Type Iii

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Diseases in the Syndactyly family:

Syndactyly, Type V 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 dysplasia30.1GJA1
2syndactyly10.3
3hypoplastic left heart syndrome 110.1GJA1
4saethre-chotzen syndrome10.1
5atrioventricular septal defect 310.1GJA1

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:

 48
  • 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 7)
id Description Frequency HPO Source Accession
1 finger syndactyly hallmark (90%) HP:0006101
2 camptodactyly of finger typical (50%) HP:0100490
3 short toe occasional (7.5%) HP:0001831
4 autosomal dominant inheritance HP:0000006
5 absent middle phalanx of 5th finger HP:0009162
6 short 5th finger HP:0009237
7 4-5 finger syndactyly HP:0010705

Drugs & Therapeutics for Syndactyly, Type Iii

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Drug clinical trials:

Search ClinicalTrials for Syndactyly, Type Iii

Search 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 Iii20 GJA1
2 Syndactyly Type 322

Anatomical Context for Syndactyly, Type Iii

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MalaCards organs/tissues related to Syndactyly, Type Iii:

31
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:

63
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_000165.3(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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet