Hereditary hemorrhagic telangiectasia type 3

Summary

Hereditary hemorrhagic telangiectasia type 3 (MONDO:0010996) is a disease. A subtype of hereditary hemorrhagic telangiectasia — 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	hereditary hemorrhagic telangiectasia type 3
Mondo ID	MONDO:0010996
MeSH	C537140
OMIM	601101
UMLS	C1832774
MedGen	371403
GARD	0009902
Is cancer (heuristic)	no

Also known as: HHT3 · ORW3 · Osler Weber Rendu syndrome type 3 · telangiectasia hereditary hemorrhagic type 3 · telangiectasia, hereditary hemorrhagic, type 3

Disease family

This is a subtype of hereditary hemorrhagic telangiectasia. 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 › autosomal genetic disease › autosomal dominant disease › hereditary hemorrhagic telangiectasia › hereditary hemorrhagic telangiectasia type 3

Related subtypes (4): telangiectasia, hereditary hemorrhagic, type 1, telangiectasia, hereditary hemorrhagic, type 2, hereditary hemorrhagic telangiectasia type 4, telangiectasia, hereditary hemorrhagic, type 5

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.