Details of Disease | DrugMAP

General Information of Disease (ID: DISRP7TU)

Disease Name	Basal ganglia calcification, idiopathic, 8, autosomal recessive
Synonyms	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
Disease Hierarchy	DISNZJTB: Bilateral striopallidodentate calcinosis DISBBY0S: Idiopathic disease DISRP7TU: Basal ganglia calcification, idiopathic, 8, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0032938 UMLS CUI C5394199 OMIM ID 618824 MedGen ID 1713414

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
JAM2	OTHVJJRJ	Strong	Autosomal recessive	[1]
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References

1	Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification. Brain. 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392.