Details of Disease

General Information of Disease (ID: DISEXA73)

Disease Name Lethal congenital contracture syndrome 7
Synonyms
LCCS7; lethal congenital contracture syndrome type 7; CNTNAP1 lethal congenital contracture syndrome; lethal congenital contracture syndrome caused by mutation in CNTNAP1; lethal congenital contracture syndrome 7
Definition Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.
Disease Hierarchy
DIS489GT: Lethal congenital contracture syndrome
DISEXA73: Lethal congenital contracture syndrome 7
Disease Identifiers
MONDO ID
MONDO_0014569
UMLS CUI
C4225386
OMIM ID
616286
MedGen ID
894160

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
CNTNAP1 OT5Y03EU Strong Autosomal recessive [1]
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References

1 Axon-glia interactions and the domain organization of myelinated axons requires neurexin IV/Caspr/Paranodin. Neuron. 2001 May;30(2):369-83. doi: 10.1016/s0896-6273(01)00294-x.