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:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Syndactyly, Type Iii, Aliases & Descriptions:

Name: Syndactyly, Type Iii 45 10 60
Syndactyly Type 3 41 20 47 22
Syndactyly of Fingers 4 and 5 41 47
Sd3 41 47
 
Syndactyly of the Ring and Little Finger 41
Syndactyly of Fingers Four and Five 41
Ring and Little Finger Syndactyly 41
Sdty3 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 186100
Orphanet47 93404
MESH via Orphanet34 C538154
ICD10 via Orphanet26 Q70.1
UMLS via Orphanet61 C1861366

Summaries for Syndactyly, Type Iii

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NIH Rare Diseases:41 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:45 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:

 47
  • 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:

62
id Symbol AA change Variation ID SNP ID
1GJA1p.Gly143SerVAR_038361rs28931600

Clinvar genetic disease variations for Syndactyly, Type Iii:

6
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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Products for genes affiliated with Syndactyly, Type Iii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Syndactyly, Type Iii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet