Chronic diarrhea due to glucoamylase deficiency

Summary

Chronic diarrhea due to glucoamylase deficiency (MONDO:0015169) is a disease. A subtype of disorder of carbohydrate transmembrane transport and absorption — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 10

Clinical features

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0012379	Abnormal enzyme/coenzyme activity	Very frequent (80-99%)
HP:0002024	Malabsorption	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0025129	Abnormal small intestinal mucosa morphology	Frequent (30-79%)
HP:0025130	Decreased small intestinal mucosa lactase level	Frequent (30-79%)
HP:0410281	Dyspepsia	Frequent (30-79%)
HP:0002028	Chronic diarrhea	Occasional (5-29%)
HP:0003270	Abdominal distention	Occasional (5-29%)
HP:0002013	Vomiting	Occasional (5-29%)
HP:0002018	Nausea	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	chronic diarrhea due to glucoamylase deficiency
Mondo ID	MONDO:0015169
Orphanet	103907
ICD-11	2084206046
SNOMED CT	716277000
UMLS	C4275068
MedGen	898614
GARD	0019838
Is cancer (heuristic)	no

Also known as: chronic diarrhea due to glucoamylase deficiency · maltase-glucoamylase deficiency

Disease family

This is a subtype of disorder of carbohydrate transmembrane transport and absorption. 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 › chronic diarrhea due to glucoamylase deficiency

Related subtypes (13): 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, 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.