Details of Disease | DrugMAP

General Information of Disease (ID: DISYFTHR)

Disease Name	Autosomal recessive cerebral atrophy
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISPN7D2: Inherited neurodegenerative disorder DISYFTHR: Autosomal recessive cerebral atrophy
Disease Identifiers	MONDO ID MONDO_0018218 UMLS CUI C4755252 MedGen ID 1653890 Orphanet ID 363969 SNOMED CT ID 776087007

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
TMPRSS4	OTCCGY2K	Supportive	Autosomal recessive	[1]
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References

1	A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. Orphanet J Rare Dis. 2013 Aug 17;8:126. doi: 10.1186/1750-1172-8-126.