3-methylglutaconic aciduria, type iv

Preferred Label : 3-methylglutaconic aciduria, type iv;

Symbol : MGCA4;

CISMeF acronym : MGA4; MGCA4;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : MGA4; Mga, type iv;

Description : The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950);

Inheritance : Autosomal recessive;

Prefixed ID : 250951;

Détails

Origin ID

250951;

UMLS CUI

C1855126;

Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria type IV [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 4 (disorder) [SNOMED CT concept]
- 3-Methylglutaconic aciduria type IV [MeSH concept]
- 3-Methylglutaconic aciduria type IV [MeSH Supplementary Concept]
- 3-methylglutaconic aciduria type 4 [ICD-11 More detail]
- 3-methylglutaconic aciduria type 4 [DO Concept]
- 3-methylglutaconic aciduria type 4 [ORDO Disease]
DO Cross reference
- 3-methylglutaconic aciduria type 4 [DO Concept]
HPO term(s)
- 3-Methylglutaric aciduria [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biventricular hypertrophy [HPO term]
- Cerebellar dysplasia [HPO term]
- Cryptorchidism [HPO term]
- Global developmental delay [HPO term]
- Inguinal hernia [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal respiratory distress [HPO term]
- Severe global developmental delay [HPO term]
- Single transverse palmar crease [HPO term]
- Subvalvular aortic stenosis [HPO term]
ORDO concept(s)
- 3-methylglutaconic aciduria type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Methylglutaconic aciduria type 4 (disorder) [SNOMED CT concept]
- 3-Methylglutaconic aciduria type IV [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria type IV [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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