Details of Disease

General Information of Disease (ID: DISOLIHQ)

Disease Name Split hand-foot malformation 6
Synonyms
split-hand/foot malformation 6; ectrodactyly, autosomal recessive; SHFM6; split hand-foot malformation caused by mutation in WNT10B; split-hand/foot malformation type 6; WNT10B split hand-foot malformation; split hand-foot malformation type 6
Definition Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.
Disease Hierarchy
DIS8PKGD: Split hand-foot malformation
DISOLIHQ: Split hand-foot malformation 6
Disease Identifiers
MONDO ID
MONDO_0009157
MESH ID
C567616
UMLS CUI
C2749665
OMIM ID
225300
MedGen ID
440845

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
WNT10B OTH0Z1XV Definitive Autosomal recessive [1]
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References

1 Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. Clin Dysmorphol. 2002 Jul;11(3):183-6. doi: 10.1097/00019605-200207000-00006.