3-methylglutaconic aciduria, type viib

Preferred Label : 3-methylglutaconic aciduria, type viib;

Symbol : MGCA7B;

CISMeF acronym : MEGCANN; MGCA7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia, autosomal recessive; MEGCANN; MGCA7;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the caseinolytic peptidase B gene (CLPB, 616254.0001);

Laboratory abnormalities : Increased urinary 2-methylglutaconic acid;

Prefixed ID : #616271;

Details

Origin ID

616271;

UMLS CUI

C5676893;

Currated CISMeF NLP mapping
- 3-methylglutaconic aciduria type 7 [ORDO Disease]
- 3-methylglutaconic aciduria type 7 (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [DO Concept]
DO Cross reference
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [DO Concept]
Genes related to phenotype
- Caseinolytic peptidase b [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Developmental regression [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Neutropenia [HPO term]
- Progressive [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- 3-methylglutaconic aciduria type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-methylglutaconic aciduria type 7 [ORDO Disease]
- 3-methylglutaconic aciduria type 7 (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia [DO Concept]

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