3-methylglutaconic aciduria, type VIII

Preferred Label : 3-methylglutaconic aciduria, type VIII;

Symbol : MGCA8;

CISMeF acronym : MGCA8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HTRA serine peptidase 2 gene (HTRA2, 606441.0004);

Laboratory abnormalities : Increased CSF lactate; 3-methylglutaconic aciduria; Increased serum lactate;

Prefixed ID : #617248;

Details

Origin ID

617248;

UMLS CUI

C4310650;

Currated CISMeF NLP mapping
- 3-methylglutaconic aciduria type 8 [ORDO Disease]
- 3-methylglutaconic aciduria type 8 [DO Concept]
- 3-methylglutaconic aciduria type 8 (disorder) [SNOMED CT concept]
DO Cross reference
- 3-methylglutaconic aciduria type 8 [DO Concept]
Genes related to phenotype
- Htra serine peptidase 2 [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Death in infancy [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Neutropenia [HPO term]
- Poor suck [HPO term]
- Respiratory failure [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-methylglutaconic aciduria type 8 [DO Concept]
- 3-methylglutaconic aciduria type 8 [ORDO Disease]

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