Monocarboxylate Transporter 1 Deficiency (MCT1D)

Alias:
Ketoacidosis Due to Monocarboxylate Transporter-1 Deficiency
Mct1d
Ketosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Monocarboxylate Transporter 1 Deficiency, also known as ketoacidosis due to monocarboxylate transporter-1 deficiency, is related to hyperinsulinemic hypoglycemia, familial, 7 and body mass index quantitative trait locus 11. An important gene associated with Monocarboxylate Transporter 1 Deficiency is SLC16A1 (Solute Carrier Family 16 Member 1), and among its related pathways/superpathways are Metabolism and Glucose / Energy Metabolism. The drugs Zinc cation and Dapagliflozin have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related phenotypes are ketoacidosis and ketonuria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Infant
<1/1000000
11
102
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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