hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
MONDO:0014332Mondo
Findings
No curated finding names hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-hydroxyisovaleric aciduriaHPOHP:0033111
- 4 of 4 reported patients
- Elevated urinary 3-hydroxybutyric acidHPOHP:0040155
- 4 of 4 reported patients
- Elevated urine acetoacetic acid levelHPOHP:0033407
- 4 of 4 reported patients
- HyperalaninemiaHPOHP:0003348
- 4 of 4 reported patients
- HyperammonemiaHPOHP:0001987
- 4 of 4 reported patients
- HyperprolinemiaHPOHP:0008358
- 4 of 4 reported patients
- HypoglycemiaHPOHP:0001943
- 4 of 4 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 4 of 4 reported patients
- LacticaciduriaHPOHP:0003648
- 4 of 4 reported patients
- Metabolic acidosisHPOHP:0001942
- 4 of 4 reported patients
- Elevated urine suberic acid levelHPOHP:0033213
- 3 of 4 reported patients
- HyperglutaminemiaHPOHP:0003217
- 3 of 4 reported patients
Show the remaining 14
- LethargyHPOHP:0001254
- 3 of 4 reported patients
- TachypneaHPOHP:0002789
- 3 of 4 reported patients
- Abnormal urine sebacic acid concentrationHPOHP:0500251
- 1 of 2 reported patients
- Respiratory alkalosisHPOHP:0001950
- 2 of 4 reported patients
- Decreased circulating citrulline concentrationHPOHP:0003572
- 1 of 3 reported patients
- HypoargininemiaHPOHP:0005961
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CA5AHGNC:1377
- Definitive · ClinGen · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- Also called
- CA-VA deficiency