Disorder of carbohydrate transmembrane transport and absorption

Summary

Disorder of carbohydrate transmembrane transport and absorption (MONDO:0017706) is a disease (an umbrella term covering 14 Mondo subtypes). A subtype of inborn carbohydrate metabolic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 14 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of carbohydrate transmembrane transport and absorption
Mondo ID	MONDO:0017706
Orphanet	309001
ICD-11	1315315105
UMLS	C5681069
MedGen	1842168
GARD	0021313
Is cancer (heuristic)	no

Also known as: disorder of carbohydrate absorption and transport

Disease family

This is a subtype of inborn carbohydrate metabolic disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn carbohydrate metabolic disorder › disorder of carbohydrate transmembrane transport and absorption

Related subtypes (17): GLUT1 deficiency syndrome, disorder of glycogen metabolism, primary hyperoxaluria, G6PD deficiency, hyperinsulinemic hypoglycemia, multiple carboxylase deficiency, disorder of glycolysis, disorder of fructose metabolism, disorder of galactose metabolism, disorders of pentose/polyol metabolism, pyruvate dehydrogenase deficiency, disorder of gluconeogenesis, mucopolysaccharidosis, oligosaccharidosis, lactose intolerance, congenital disorder of deglycosylation 1, disorder of galactose and fructose metabolism

Subtypes (14): congenital sucrase-isomaltase deficiency, congenital lactase deficiency, free sialic acid storage disease, infantile form, dystonia 9, Salla disease, hereditary cryohydrocytosis with reduced stomatin, exercise-induced hyperinsulinism, juvenile cataract-microcornea-renal glucosuria syndrome, diarrhea-vomiting due to trehalase deficiency, childhood onset GLUT1 deficiency syndrome 2, chronic diarrhea due to glucoamylase deficiency, intermediate severe Salla disease, glucose transport disorder, autosomal recessive non-syndromic intellectual disability

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.