SD3
MCID: SYN021
MIFTS: 28

Syndactyly Type 3 (SD3) malady

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

Summaries for Syndactyly Type 3

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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:48 186100

Aliases & Classifications for Syndactyly Type 3

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

syndactyly type 3 44 21 23 50
syndactyly, type iii 48 63
syndactyly of the ring and little finger 44
syndactyly of fingers four and five 44
ring and little finger syndactyly 44
syndactyly of fingers 4 and 5 50
sdty3 44
sd3 50


External Ids:

OMIM48 186100
MESH via Orphanet37 C538154
ICD10 via Orphanet27 Q70.1
UMLS via Orphanet64 C1861366

Related Diseases for Syndactyly Type 3

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Sources:
18GeneCards, 19GeneDecks
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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

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

186100

Clinical features from OMIM:

186100

Symptoms:

50
  • syndactyly of fingers/interdigital palm
  • autosomal dominant inheritance
  • short foot/brachydactyly of toes
  • camptodactyly of some fingers

Drugs & Therapeutics for Syndactyly Type 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Syndactyly Type 3

Drug clinical trials:

Search ClinicalTrials for Syndactyly Type 3

Search NIH Clinical Center for Syndactyly Type 3

Search CenterWatch for Syndactyly Type 3

Genetic Tests for Syndactyly Type 3

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Syndactyly Type 3:

id Genetic test Affiliating Genes
1 Syndactyly, Type Iii21 GJA1
2 Syndactyly Type 323

Anatomical Context for Syndactyly Type 3

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34MalaCards
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MalaCards organs/tissues related to Syndactyly Type 3:

34
Bone

Animal Models for Syndactyly Type 3 or affiliated genes

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Publications for Syndactyly Type 3

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Variations for Syndactyly Type 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Syndactyly Type 3:

65
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

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Syndactyly Type 3

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GO Terms for genes affiliated with Syndactyly Type 3

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Products for genes affiliated with Syndactyly Type 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Syndactyly Type 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet