Details of Disease

General Information of Disease (ID: DISMKGLC)

Disease Name Syndactyly type 4
Synonyms
syndactyly, type IV; SDTY4; syndactyly, type 4; Sd4; Haas type syndactyly; polysyndactyly type Haas; polysyndactyly, Haas type; LMBR1 non-syndromic syndactyly; non-syndromic syndactyly caused by mutation in LMBR1
Definition A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISDSSO2: Non-syndromic syndactyly
DISMKGLC: Syndactyly type 4
Disease Identifiers
MONDO ID
MONDO_0008515
MESH ID
C566092
UMLS CUI
C1861355
OMIM ID
186200
MedGen ID
350013
Orphanet ID
93405
SNOMED CT ID
719158007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SHH TTIENCJ Supportive Autosomal dominant [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMBR1 OTGRQK9V Supportive Autosomal dominant [2]
SHH OTOG2BXF Supportive Autosomal dominant [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2 Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17.