Arteriovenous hemangioma/malformation

Summary

Arteriovenous hemangioma/malformation (MONDO:0001256) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 cohort gene.

At a glance

• Umbrella term: 7 Mondo subtypes
• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	arteriovenous hemangioma/malformation
Mondo ID	MONDO:0001256
MeSH	D001165
DOID	DOID:11294
NCIT	C2882
SNOMED CT	233982006
UMLS	C0334533
MedGen	137780
Is cancer (heuristic)	no

Also known as: arteriovenous angioma · arteriovenous hemangioma · arteriovenous hemangioma/malformation · racemose aneurysm (morphologic abnormality) · racemose hemangioma (morphologic abnormality)

Data availability: 1 GenCC gene-disease record · 1 HPO phenotype · 112 cell lines.

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › benign blood vessel neoplasm › hemangioma › arteriovenous hemangioma/malformation

Related subtypes (27): malignant hemangioma, hemangioma of orbit, intra-abdominal hemangioma, capillary hemangioma, venous hemangioma, deep hemangioma, skin hemangioma, subglottic hemangioma, breast hemangioma, cavernous hemangioma, glomeruloid hemangioma, hemangioma of lung, acquired hemangioma, central nervous system hemangioma, hobnail hemangioma, synovial angioma, placental hemangioma, hemangioma of subcutaneous tissue, hemangiomas of small intestine, spindle cell hemangioma, infantile hemangioma of rare localization, congenital hemangioma, epithelioid hemangioma, hemangioma of retina, hemangioma of choroid, hemangioma of gingiva, diffuse cavernous hemangioma of the rectum

Subtypes (7): arteriovenous malformations of the brain, vein of Galen aneurysm, cerebrofacial arteriovenous metameric syndrome, facial arteriovenous malformation, Cobb syndrome, Foix-Alajouanine syndrome, dural sinus malformation

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

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
GPRASP1	Moderate	X-linked	arteriovenous hemangioma/malformation

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GPRASP1	HGNC:24834	ENSG00000198932	Q5JY77	G-protein coupled receptor-associated sorting protein 1	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GPRASP1	G-protein coupled receptor-associated sorting protein 1	Modulates lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GPRASP1	Scaffold/PPI	no		ARM-rpt_dom, ARM-like, ARM-type_fold

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 23	1
endothelial cell	1
middle temporal gyrus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GPRASP1	275	broad	yes	middle temporal gyrus, Brodmann (1909) area 23, endothelial cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GPRASP1	1,633

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GPRASP1	Q5JY77	41.79

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
G protein-coupled receptor catabolic process	1	8426.0×	2e-04	GPRASP1
endosome to lysosome transport	1	337.0×	0.003	GPRASP1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GPRASP1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	GPRASP1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
GPRASP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.