SD3
MCID: SYN021
MIFTS: 28

Syndactyly Type 3 (SD3) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
Download this MalaCard

Summaries for Syndactyly Type 3

About this section
Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: Syndactyly Type 3, also known as syndactyly, type iii, is related to oculodentodigital dysplasia and syndactyly, and has symptoms including syndactyly of fingers/interdigital palm, autosomal dominant inheritance and short foot/brachydactyly of toes. An important gene associated with Syndactyly Type 3 is GJA1 (gap junction protein, alpha 1, 43kDa). Affiliated tissues include bone.

Description from OMIM:47 186100

Aliases & Classifications for Syndactyly Type 3

About this section
Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

syndactyly type 3 43 20 22 49
syndactyly, type iii 47 62
syndactyly of the ring and little finger 43
syndactyly of fingers four and five 43
ring and little finger syndactyly 43
syndactyly of fingers 4 and 5 49
sdty3 43
sd3 49


External Ids:

OMIM47 186100
MESH via Orphanet36 C538154
ICD10 via Orphanet26 Q70.1
UMLS via Orphanet63 C1861366

Related Diseases for Syndactyly Type 3

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Syndactyly Type 3 family:

Syndactyly Syndactyly Type 1
Syndactyly Type 2 Syndactyly Type 4
Syndactyly Type 5 Syndactyly Type 9
Syndactyly Type 6

Diseases related to Syndactyly Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia30.2GJA1
2syndactyly10.4
3saethre-chotzen syndrome10.1
4hypoplastic left heart syndrome 110.0GJA1
5atrioventricular septal defect 310.0GJA1

Graphical network of diseases related to Syndactyly Type 3:



Diseases related to syndactyly type 3

Symptoms for Syndactyly Type 3

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

186100

Clinical features from OMIM:

186100

Symptoms:

49
  • syndactyly of fingers/interdigital palm
  • autosomal dominant inheritance
  • short foot/brachydactyly of toes
  • camptodactyly of some fingers

Drugs & Therapeutics for Syndactyly Type 3

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Syndactyly Type 3

Search NIH Clinical Center for Syndactyly Type 3

Genetic Tests for Syndactyly Type 3

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Syndactyly Type 3:

id Genetic test Affiliating Genes
1 Syndactyly, Type Iii20 GJA1
2 Syndactyly Type 322

Anatomical Context for Syndactyly Type 3

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Syndactyly Type 3:

33
Bone

Animal Models for Syndactyly Type 3 or affiliated genes

About this section

Publications for Syndactyly Type 3

About this section

Variations for Syndactyly Type 3

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly Type 3:

64
id Symbol AA change Variation ID SNP ID
1GJA1p.Gly143SerVAR_038361rs28931600

Clinvar genetic disease variations for Syndactyly Type 3:

1
id Gene Name 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 3

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Syndactyly Type 3

Search GEO for disease gene expression data for Syndactyly Type 3.

Pathways for genes affiliated with Syndactyly Type 3

About this section

Compounds for genes affiliated with Syndactyly Type 3

About this section

GO Terms for genes affiliated with Syndactyly Type 3

About this section

Products for genes affiliated with Syndactyly Type 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Syndactyly Type 3

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet