Details of Disease

General Information of Disease (ID: DISQIS1L)

Disease Name 3-methylglutaconic aciduria, type VIIB
Synonyms
3-Methylglutaconic aciduria, type 7; 3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; 3-methylglutaconic aciduria type VII; MGCA7; CLPB 3-methylglutaconic aciduria; 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia; 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome; MEGCANN; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia; MGA7
Definition Present because it is in the OMIM series.
Disease Hierarchy
DIS8G1WP: 3-methylglutaconic aciduria
DISQIS1L: 3-methylglutaconic aciduria, type VIIB
Disease Identifiers
MONDO ID
MONDO_0014561
UMLS CUI
C5676893
OMIM ID
616271
MedGen ID
1810214
Orphanet ID
445038

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
CLPB OT1I0IBK Definitive Autosomal recessive [1]
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References

1 A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J Inherit Metab Dis. 2017 Nov;40(6):853-860. doi: 10.1007/s10545-017-0057-z. Epub 2017 Jul 7.