Details of Disease | DrugMAP

General Information of Disease (ID: DIS6L2RX)

Disease Name	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Synonyms	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related; MDDGA10; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10; muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1; RXYLT1 muscular dystrophy-dystroglycanopathy, type A
Definition	Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.
Disease Hierarchy	DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A DISJUOQB: Muscle-eye-brain disease DIS6L2RX: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Disease Identifiers	MONDO ID MONDO_0014022 UMLS CUI C3554381 OMIM ID 615041 MedGen ID 767295

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
RXYLT1	TT0UMTJ	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RXYLT1	OTQTO7VU	Definitive	Autosomal recessive	[1]
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References

1	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012 Dec 7;91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.