inverse Klippel-Trenaunay syndrome

Summary

inverse Klippel-Trenaunay syndrome (MONDO:0018001) is a disease. A subtype of vascular neoplasm — 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	inverse Klippel-Trenaunay syndrome
Mondo ID	MONDO:0018001
Orphanet	329324
GARD	0021488
Is cancer (heuristic)	no

Also known as: cutaneous hemangioma with muscle or bone atrophy

Disease family

This is a subtype of vascular neoplasm. 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 › cardiovascular disorder › cardiovascular neoplasm › vascular neoplasm › inverse Klippel-Trenaunay syndrome

Related subtypes (15): intravascular angioleiomyoma, hereditary neurocutaneous angioma, diffuse neonatal hemangiomatosis, vasoproliferative tumor of retina, kaposiform lymphangiomatosis, retinal capillary malformation, pelvis syndrome, blood vessel neoplasm, choroid neoplasm, vascular bone neoplasm, lymphatic vessel neoplasm, benign choroid plexus neoplasm, benign vascular tumor, borderline vascular tumor, littoral cell hemangioma of the spleen

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.