Monocarboxylate transporter 1 deficiency

Preferred Label : Monocarboxylate transporter 1 deficiency;

Symbol : MCT1D;

CISMeF acronym : MCT1D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 16 (monocarboxylic acid transporter), member 1 (SLC16A1, 600682.0005);

Prefixed ID : #616095;

Détails

Origin ID

616095;

UMLS CUI

C4015186;

Currated CISMeF NLP mapping
- Ketoacidosis due to monocarboxylate transporter-1 deficiency [ORDO Disease]
- Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Solute carrier family 16 (monocarboxylic acid transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Ketoacidosis [HPO term]
- Ketonuria [HPO term]
- Ketotic hypoglycemia [HPO term]
ORDO concept(s)
- Ketoacidosis due to monocarboxylate transporter-1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) [SNOMED CT concept]

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

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