qualitative or quantitative defects of protein O-mannosyltransferase 1

Summary

qualitative or quantitative defects of protein O-mannosyltransferase 1 (MONDO:0016184) is a disease. A subtype of qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan — 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	qualitative or quantitative defects of protein O-mannosyltransferase 1
Mondo ID	MONDO:0016184
Orphanet	209030
UMLS	C5680849
MedGen	1842612
GARD	0020423
Is cancer (heuristic)	no

Also known as: qualitative or quantitative defects of protein O-mannosyltransferase type 1

Disease family

This is a subtype of qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan. 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 › nervous system disorder › congenital nervous system disorder › qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan › qualitative or quantitative defects of protein O-mannosyltransferase 1

Related subtypes (8): limb-girdle muscular dystrophy due to POMK deficiency, qualitative or quantitative defects of FKRP, qualitative or quantitative defects of protein O-mannosyltransferase 2, myopathy caused by variation in CRPPA, myopathy caused by variation in FKTN, myopathy caused by variation in POMT1, myopathy caused by variation in POMT2, myopathy caused by variation in GMPPB

Subtypes (1): autosomal recessive limb-girdle muscular dystrophy type 2K

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.