Details of Disease

General Information of Disease (ID: DIS5CUOH)

Disease Name Synpolydactyly type 2
Synonyms
synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses; synpolydactyly 2; SPD2; SD2, Debeer type; synpolydactyly, Debeer type; SD2b; FBLN1 non-syndromic synpolydactyly; synpolydactyly type 2; SPD, Debeer type; non-syndromic synpolydactyly caused by mutation in FBLN1; synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses
Definition Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISQHSJO: Non-syndromic synpolydactyly
DISNK0Q9: Non-syndromic polydactyly
DIS5CUOH: Synpolydactyly type 2
Disease Identifiers
MONDO ID
MONDO_0011984
MESH ID
C564278
UMLS CUI
C1842422
OMIM ID
608180
MedGen ID
331290
Orphanet ID
295197

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FBLN1 OT5MHHOP Limited Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.