Details of Disease

General Information of Disease (ID: DISUMU47)

Disease Name Methylmalonic acidemia with homocystinuria, type cblX
Synonyms
intellectual disability, X-linked 3; methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type; methylmalonic acidemia and homocysteinemia type cblX; mental retardation, X-linked 3; methylmalonic aciduria with homocystinuria, type cblX; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; methylmalonic aciduria and homocysteinemia, cblx type, X-linked recessive
Disease Hierarchy
DIS71AI3: Non-syndromic X-linked intellectual disability
DIS5921T: Methylmalonic aciduria and homocystinuria
DISUMU47: Methylmalonic acidemia with homocystinuria, type cblX
Disease Identifiers
MONDO ID
MONDO_0010657
MESH ID
C563136
UMLS CUI
C0796208
OMIM ID
309541
MedGen ID
167111
Orphanet ID
369962

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
HCFC1 OT0UCK62 Definitive X-linked [1]
------------------------------------------------------------------------------------

References

1 Localisation of the MRX3 gene for non-specific X linked mental retardation. J Med Genet. 1991 Jun;28(6):372-7. doi: 10.1136/jmg.28.6.372.