Details of Disease | DrugMAP

General Information of Disease (ID: DISDD010)

Disease Name	Syndactyly type 3
Synonyms	Ring and Little finger syndactyly; Sdty3; syndactyly, type 3; syndactyly of the ring and little finger; syndactyly, type III; syndactyly of fingers four and five; GJA1 non-syndromic syndactyly; syndactyly of fingers 4 and 5; SD3; non-syndromic syndactyly caused by mutation in GJA1
Definition	Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
Disease Hierarchy	DISFLSDF: Polydactyly-syndactyly-triphalangism DISDSSO2: Non-syndromic syndactyly DISDD010: Syndactyly type 3
Disease Identifiers	MONDO ID MONDO_0008514 MESH ID C538154 UMLS CUI C1861366 OMIM ID 186100 MedGen ID 396117 Orphanet ID 93404 SNOMED CT ID 715725001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	Supportive	Autosomal dominant	[1]
GJA1	TT4F7SL	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJA1	OTT94MKL	Supportive	Autosomal dominant	[1]
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References

1	Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.
2	A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.