Details of Disease

General Information of Disease (ID: DISJ7EE9)

Disease Name Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Synonyms
carbonic anhydrase 5A deficiency, hyperammonemia due to; CA5AD; hyperammonemia due to carbonic anhydrase VA deficiency; mitochondrial carbonic anhydrase va deficiency; carbonic anhydrase VA deficiency; carbonic anhydrase VA deficiency, hyperammonemia due to; hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency; CA-VA deficiency
Disease Hierarchy
DISKD7HM: Urea cycle disorder or inherited hyperammonemia
DISNTY2N: Disorder of gluconeogenesis
DISJ7EE9: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Disease Identifiers
MONDO ID
MONDO_0014332
UMLS CUI
C3810404
OMIM ID
615751
MedGen ID
816734
Orphanet ID
401948

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
CA5A TT75WPO Definitive Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CA5A OTP9M7VW Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.Genet Med. 2016 Oct;18(10):991-1000. doi: 10.1038/gim.2015.201. Epub 2016 Feb 25.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.