Cutaneous collagenous vasculopathy

Summary

Cutaneous collagenous vasculopathy (MONDO:0017242) is a disease. A subtype of skin vascular disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 10

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		20	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0007489	Diffuse telangiectasia	Obligate (100%)
HP:0000967	Petechiae	Very frequent (80-99%)
HP:0000978	Bruising susceptibility	Very frequent (80-99%)
HP:0000988	Skin rash	Very frequent (80-99%)
HP:0007394	Prominent superficial blood vessels	Very frequent (80-99%)
HP:0010783	Erythema	Very frequent (80-99%)
HP:0011276	Vascular skin abnormality	Very frequent (80-99%)
HP:0012733	Macule	Very frequent (80-99%)
HP:0001939	Abnormality of metabolism/homeostasis	Frequent (30-79%)
HP:0000989	Pruritus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cutaneous collagenous vasculopathy
Mondo ID	MONDO:0017242
Orphanet	280779
ICD-11	878108553
SNOMED CT	718634003
UMLS	C4305323
MedGen	930992
GARD	0012428
Is cancer (heuristic)	no

Also known as: CCV · cutaneus colagenous vasculopathy

Disease family

This is a subtype of skin vascular disease. 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 › integumentary system disorder › skin disorder › skin vascular disease › cutaneous collagenous vasculopathy

Related subtypes (19): Behcet disease, blue rubber bleb nevus, familial multiple nevi flammei, Sneddon syndrome, generalized essential telangiectasia, cutis marmorata telangiectatica congenita, angioedema, malignant atrophic papulosis, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Maffucci syndrome, Bockenheimer syndrome, calciphylaxis cutis, Wyburn-Mason syndrome, Cobb syndrome, chilblain lupus, angioma serpiginosum, pityriasis lichenoides, livedo reticularis, atrophic papulosis

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.