Congenital sucrase-isomaltase deficiency without sucrose intolerance

Summary

Congenital sucrase-isomaltase deficiency without sucrose intolerance (MONDO:0017622) is a disease. A subtype of congenital sucrase-isomaltase deficiency — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital sucrase-isomaltase deficiency without sucrose intolerance
Mondo ID	MONDO:0017622
Orphanet	306486
GARD	0025119
Is cancer (heuristic)	no

Also known as: congenital sucrose-isomaltose malabsorption without sucrose intolerance · CSID without sucrose intolerance · disaccharide intolerance without sucrose intolerance

Disease family

This is a subtype of congenital sucrase-isomaltase deficiency. 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 body system or component › digestive system disorder › intestinal disorder › malabsorption syndrome › intestinal disaccharidase deficiency › congenital sucrase-isomaltase deficiency › congenital sucrase-isomaltase deficiency without sucrose intolerance

Related subtypes (5): congenital sucrase-isomaltase deficiency with starch intolerance, congenital sucrase-isomaltase deficiency with minimal starch tolerance, congenital sucrase-isomaltase deficiency without starch intolerance, congenital sucrase-isomaltase deficiency with starch and lactose intolerance, global disaccharide intolerance

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.