ELMO2

Summary

ELMO2 (engulfment and cell motility 2, HGNC:17233) is a protein-coding gene on chromosome 20q13.12, encoding Engulfment and cell motility protein 2 (Q96JJ3). Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. It is a selective cancer dependency (DepMap: 25.9% of cell lines).

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 63916 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary intraosseous venous malformation (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 119 total — 4 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 30
• Cancer dependency (DepMap): dependent in 25.9% of screened cell lines
• MANE Select transcript: NM_133171

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17233
Approved symbol	ELMO2
Name	engulfment and cell motility 2
Location	20q13.12
Locus type	gene with protein product
Status	Approved
Aliases	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656
Ensembl gene	ENSG00000062598
Ensembl biotype	protein_coding
OMIM	606421
Entrez	63916

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 26 protein_coding, 10 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000290246, ENST00000352077, ENST00000372176, ENST00000396391, ENST00000425546, ENST00000450812, ENST00000452857, ENST00000460474, ENST00000462491, ENST00000462593, ENST00000464448, ENST00000467800, ENST00000469801, ENST00000480042, ENST00000481852, ENST00000487583, ENST00000488853, ENST00000497412, ENST00000863143, ENST00000863144, ENST00000863145, ENST00000863146, ENST00000863147, ENST00000863148, ENST00000863149, ENST00000863150, ENST00000863151, ENST00000863152, ENST00000863153, ENST00000863154, ENST00000863155, ENST00000863156, ENST00000923570, ENST00000964298, ENST00000964299, ENST00000964300, ENST00000964301

RefSeq mRNA: 3 — MANE Select: NM_133171 NM_001318253, NM_133171, NM_182764

CCDS: CCDS13398, CCDS82623

Canonical transcript exons

ENST00000290246 — 22 exons

Exon	Start	End
ENSE00001123391	46373399	46373535
ENSE00001251558	46398697	46398771
ENSE00001252125	46368891	46368968
ENSE00001756253	46370443	46370525
ENSE00001905327	46406548	46406615
ENSE00003471721	46371579	46371691
ENSE00003471751	46375236	46375370
ENSE00003477766	46375668	46375790
ENSE00003490668	46383416	46383494
ENSE00003529724	46371352	46371459
ENSE00003561166	46393093	46393143
ENSE00003569816	46389039	46389220
ENSE00003578411	46380253	46380303
ENSE00003588808	46393529	46393601
ENSE00003598810	46394405	46394532
ENSE00003632642	46374536	46374640
ENSE00003659448	46386124	46386275
ENSE00003662152	46366050	46367560
ENSE00003662155	46387338	46387437
ENSE00003677701	46374332	46374440
ENSE00003678952	46394049	46394089
ENSE00003679790	46371806	46371969

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4967 / max 294.0040, expressed in 1805 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187560	12.5808	1802
187559	0.6021	314
187563	0.1116	6
187562	0.0872	6
187564	0.0789	6
187566	0.0178	3
187561	0.0101	4
187565	0.0082	2

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	97.65	gold quality
cerebellar cortex	UBERON:0002129	97.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.57	gold quality
cerebellum	UBERON:0002037	97.34	gold quality
cerebellar vermis	UBERON:0004720	95.35	gold quality
caudate nucleus	UBERON:0001873	94.89	gold quality
granulocyte	CL:0000094	94.88	gold quality
lower esophagus mucosa	UBERON:0035834	94.88	gold quality
right frontal lobe	UBERON:0002810	94.77	gold quality
nucleus accumbens	UBERON:0001882	94.43	gold quality
putamen	UBERON:0001874	94.18	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.97	gold quality
cortical plate	UBERON:0005343	93.86	gold quality
amygdala	UBERON:0001876	93.65	gold quality
Ammon’s horn	UBERON:0001954	93.63	gold quality
corpus callosum	UBERON:0002336	93.63	gold quality
prefrontal cortex	UBERON:0000451	93.62	gold quality
anterior cingulate cortex	UBERON:0009835	93.61	gold quality
cingulate cortex	UBERON:0003027	93.60	gold quality
spinal cord	UBERON:0002240	93.57	gold quality
ectocervix	UBERON:0012249	93.38	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.30	gold quality
nerve	UBERON:0001021	93.28	gold quality
tibial nerve	UBERON:0001323	93.28	gold quality
brain	UBERON:0000955	93.26	gold quality
secondary oocyte	CL:0000655	93.22	gold quality
telencephalon	UBERON:0001893	93.17	gold quality
frontal cortex	UBERON:0001870	93.13	gold quality
neocortex	UBERON:0001950	93.10	gold quality
forebrain	UBERON:0001890	92.90	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 25.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• Through its association with ELMO2, ILK plays key roles in the regulation of Rho GTPases and cross-talk pathways between adhesion and growth factor receptors. (PMID:22568984)
• uncovered a role for ELMO in the recruitment of ACF7 to the membrane to promote microtubule capture and stability (PMID:23184944)
• Axl has a role in phosphorylating the Elmo scaffold proteins to promote Rac activation and cell invasion (PMID:25332238)
• studies demonstrate that Elmo2 is a new regulator of insulin-dependent Glut4 membrane translocation through modulating Rac1 activity and Akt membrane compartmentalization. (PMID:27226625)
• findings highlight the necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones; loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling (PMID:27476657)
• These data suggest a novel link between Tiam1 and RhoG/ILK /ELMO2 pathway as upstream effectors of the Rac1-mediated phagocytic process in trabecular meshwork cells. (PMID:27539661)
• Study demonstrated that an evolutionarily conserved fragment in the C-terminal cytoplasmic tail of BAI-aGPCRs is specifically recognized by the RBD-ARR-ELMO (RAE) supramodule of the ELMO family scaffolds. The crystal structures of ELMO2-RAE and its complex with BAI1 uncover the molecular basis of BAI/ELMO interactions. (PMID:30604775)
• Clinical and Molecular Study of ELMO-2-Related Massive Intraosseous Vascular Malformations: Lessons Learned From 25 Years of Follow-up. (PMID:30882408)
• Identification of lncRNA-associated differential subnetworks in oesophageal squamous cell carcinoma by differential co-expression analysis. (PMID:32164040)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	elmo2	ENSDARG00000063527
mus_musculus	Elmo2	ENSMUSG00000017670
rattus_norvegicus	Elmo2	ENSRNOG00000018747

Paralogs (5): ELMO3 (ENSG00000102890), ELMOD1 (ENSG00000110675), ELMOD3 (ENSG00000115459), ELMO1 (ENSG00000155849), ELMOD2 (ENSG00000179387)

Protein

Protein identifiers

Engulfment and cell motility protein 2 — Q96JJ3 (reviewed: Q96JJ3)

Alternative names: Protein ced-12 homolog A

All UniProt accessions (7): Q96JJ3, B4DRL5, H0YCM7, Q5JVZ4, Q5JVZ5, Q5JVZ8, Q5JW01

UniProt curated annotations — full annotation on UniProt →

Function. Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.

Subunit / interactions. Interacts with the SH3-domain of DOCK1 via its SH3-binding site. Probably part of a complex with DOCK1 and RAC1. Probably part of a complex with DOCK1 and CRK isoform CRK-II. Interacts with ARHGEF16, DOCK4 and EPHA2; mediates activation of RAC1 by EPHA2. Interacts with ADGRB3. Interacts with AUTS2; the interaction is direct.

Subcellular location. Cytoplasm. Cytosol. Membrane.

Tissue specificity. Widely expressed, with a higher expression in skeletal muscle, kidney and placenta.

Disease relevance. Vascular malformation, primary intraosseous (VMPI) [MIM:606893] An autosomal recessive, rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96JJ3-1	1	yes
Q96JJ3-3	2

RefSeq proteins (3): NP_001305182, NP_573403, NP_877496 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR006816	ELMO_dom	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR024574	ELMO_ARM	Domain
IPR050868	ELMO_domain-containing	Family

Pfam: PF04727, PF11841, PF16457

UniProt features (59 total): helix 34, strand 6, turn 6, sequence conflict 4, modified residue 3, domain 2, chain 1, short sequence motif 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6IDX	X-RAY DIFFRACTION	1.7
6IE1	X-RAY DIFFRACTION	2.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JJ3-F1	88.96	0.69

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 48, 503, 717

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2029482	Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097	VEGFA-VEGFR2 Pathway
R-HSA-8849471	PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9664422	FCGR3A-mediated phagocytosis

MSigDB gene sets: 278 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, ELVIDGE_HYPOXIA_DN, GOBP_REGULATION_OF_VASCULOGENESIS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_CELL_CHEMOTAXIS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, CHX10_01, TERAMOTO_OPN_TARGETS_CLUSTER_6, GOBP_TAXIS, MODULE_195, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_VASCULOGENESIS

GO Biological Process (5): phagocytosis (GO:0006909), apoptotic process (GO:0006915), actin filament organization (GO:0007015), cell motility (GO:0048870), cell chemotaxis (GO:0060326)

GO Molecular Function (3): SH3 domain binding (GO:0017124), receptor tyrosine kinase binding (GO:0030971), protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Fcgamma receptor (FCGR) dependent phagocytosis	1
Signaling by VEGF	1
Signaling by PTK6	1
RHO GTPase cycle	1
Leishmania phagocytosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endocytosis	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
actin cytoskeleton organization	1
supramolecular fiber organization	1
cellular process	1
chemotaxis	1
cell migration	1
cellular response to chemical stimulus	1
protein domain specific binding	1
signaling receptor binding	1
protein tyrosine kinase binding	1
binding	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1014 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELMO2	DOCK1	Q14185	999
ELMO2	WDR35	Q9P2L0	983
ELMO2	RHOG	P35238	951
ELMO2	GULP1	Q9UBP9	938
ELMO2	CRK	P46108	935
ELMO2	ADGRB1	O14514	881
ELMO2	DOCK4	Q8N1I0	851
ELMO2	IFT122	Q9HBG6	794
ELMO2	AXL	P30530	708
ELMO2	ILK	P57043	625
ELMO2	AKT1	P31749	584
ELMO2	ABI1	Q8IZP0	540
ELMO2	DOCK5	Q9H7D0	528
ELMO2	RAC1	P15154	525
ELMO2	ARHGEF16	Q5VV41	519

IntAct

69 interactions, top by confidence:

A	B	Type	Score
ELMO1	DOCK1	psi-mi:“MI:0914”(association)	0.940
GRB2	WIPF3	psi-mi:“MI:0914”(association)	0.730
GYPA	TCAF2	psi-mi:“MI:0914”(association)	0.640
DOCK4	ELMO2	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
ERMAP	AP3B1	psi-mi:“MI:0914”(association)	0.530
ELMO1	CALML3	psi-mi:“MI:0914”(association)	0.530
RAC2	RAP1GDS1	psi-mi:“MI:0914”(association)	0.530
GRB2	ARHGEF35	psi-mi:“MI:0914”(association)	0.530
CRK	ARHGAP42	psi-mi:“MI:0914”(association)	0.530
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
ARRB1	SAG	psi-mi:“MI:0914”(association)	0.530
RAC2	RAC3	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
DOCK5	DOCK1	psi-mi:“MI:0914”(association)	0.500
	ANKRD28	psi-mi:“MI:0914”(association)	0.350
MAPT	MEX3A	psi-mi:“MI:0914”(association)	0.350
DOCK5	DPYSL4	psi-mi:“MI:0914”(association)	0.350
ARRB1	SAG	psi-mi:“MI:0914”(association)	0.350

BioGRID (85): ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ARL4A (Affinity Capture-Western), CDC27 (Affinity Capture-Western), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS), ELMO2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JTR4, A1A4S6, A2AWA9, A4FUD6, A4II46, A6H6A9, A6QNS3, A6QQZ7, O60890, P09851, P0CAX5, P20936, P23727, P26450, P27986, P50904, Q08DP6, Q12979, Q5R372, Q5R5M3, Q5R685, Q5R6F2, Q5R8I6, Q5RCC1, Q5RCW6, Q5SSL4, Q5T2T1, Q5U2Y3, Q5ZJ17, Q5ZLX4, Q5ZMW5, Q62696, Q63787, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q8AVG0, Q8BPU7, Q8K0F1

Diamond homologs: A4FUD6, A6QR40, Q499U2, Q5RCC1, Q8BHL5, Q8BPU7, Q8BYZ7, Q92556, Q96BJ8, Q96JJ3, Q55GR7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
AUTS2	“up-regulates activity”	ELMO2	binding
ELMO2	“up-regulates activity”	RAC1	“guanine nucleotide exchange factor”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
FCGR3A-mediated phagocytosis	5	17.3×	1e-03
Regulation of actin dynamics for phagocytic cup formation	5	17.1×	1e-03
RHOG GTPase cycle	5	13.7×	2e-03
RAC2 GTPase cycle	5	11.8×	3e-03
RAC1 GTPase cycle	8	9.1×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of substrate adhesion-dependent cell spreading	5	26.0×	5e-04
regulation of postsynapse assembly	5	23.9×	5e-04
regulation of actin cytoskeleton organization	6	13.1×	1e-03
cell chemotaxis	5	12.9×	4e-03
small GTPase-mediated signal transduction	5	12.7×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

119 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	3
Uncertain significance	60
Likely benign	11
Benign	19

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1687388	NM_133171.5(ELMO2):c.311dup (p.Met104fs)	Pathogenic
1705510	NM_133171.5(ELMO2):c.1065+1G>T	Pathogenic
254191	NM_133171.5(ELMO2):c.1065+1G>A	Pathogenic
254193	NM_133171.5(ELMO2):c.2080del (p.Leu694fs)	Pathogenic
1683740	NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter)	Likely pathogenic
254192	NM_133171.5(ELMO2):c.1802-1G>C	Likely pathogenic
623355	NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)	Likely pathogenic

SpliceAI

2936 predictions. Top by Δscore:

Variant	Effect	Δscore
20:46367556:CAGTA:C	acceptor_gain	1.0000
20:46367558:GTA:G	acceptor_gain	1.0000
20:46367559:TA:T	acceptor_gain	1.0000
20:46367559:TAC:T	acceptor_loss	1.0000
20:46367561:C:CA	acceptor_loss	1.0000
20:46367561:C:CC	acceptor_gain	1.0000
20:46368886:CTCA:C	donor_loss	1.0000
20:46368887:TCA:T	donor_loss	1.0000
20:46368888:CA:C	donor_loss	1.0000
20:46368889:ACCTC:A	donor_loss	1.0000
20:46368890:C:CT	donor_loss	1.0000
20:46368964:ACCTC:A	acceptor_gain	1.0000
20:46368965:CCTCC:C	acceptor_gain	1.0000
20:46368966:CTC:C	acceptor_gain	1.0000
20:46368968:CCT:C	acceptor_loss	1.0000
20:46368969:C:CC	acceptor_gain	1.0000
20:46368969:CTG:C	acceptor_loss	1.0000
20:46368970:T:G	acceptor_loss	1.0000
20:46371348:CTA:C	donor_loss	1.0000
20:46371349:TACTT:T	donor_loss	1.0000
20:46371350:A:AC	donor_gain	1.0000
20:46371351:C:CC	donor_gain	1.0000
20:46371351:CT:C	donor_gain	1.0000
20:46371351:CTT:C	donor_gain	1.0000
20:46371351:CTTTT:C	donor_gain	1.0000
20:46371381:T:TA	donor_gain	1.0000
20:46371382:C:A	donor_gain	1.0000
20:46371383:C:A	donor_gain	1.0000
20:46371455:CCGTT:C	acceptor_gain	1.0000
20:46371456:CGTT:C	acceptor_gain	1.0000

AlphaMissense

4806 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:46367448:A:G	L692P	1.000
20:46367451:A:G	L691P	1.000
20:46367457:A:G	L689P	1.000
20:46367478:A:G	L682P	1.000
20:46367541:C:T	G661D	1.000
20:46367542:C:G	G661R	1.000
20:46367551:A:G	W658R	1.000
20:46367551:A:T	W658R	1.000
20:46370484:A:G	C615R	1.000
20:46371438:A:G	L572S	1.000
20:46371626:A:G	L549P	1.000
20:46371638:C:G	R545P	1.000
20:46371639:G:T	R545S	1.000
20:46371653:A:G	L540P	1.000
20:46371686:A:G	L529P	1.000
20:46371947:T:G	Q480P	1.000
20:46373409:T:A	D469V	1.000
20:46373409:T:C	D469G	1.000
20:46373409:T:G	D469A	1.000
20:46373410:C:G	D469H	1.000
20:46373421:G:T	A465E	1.000
20:46373426:C:A	M463I	1.000
20:46373426:C:G	M463I	1.000
20:46373426:C:T	M463I	1.000
20:46373427:A:C	M463R	1.000
20:46373427:A:G	M463T	1.000
20:46373427:A:T	M463K	1.000
20:46373435:C:A	W460C	1.000
20:46373435:C:G	W460C	1.000
20:46373436:C:G	W460S	1.000

dbSNP variants (sampled 300 via entrez): RS1000175648 (20:46372374 A>C), RS1000224771 (20:46371072 C>T), RS1000235239 (20:46406353 C>A), RS1000354169 (20:46379471 A>G), RS1000455822 (20:46380094 C>A,G,T), RS1000480854 (20:46370253 G>A), RS1000552294 (20:46369311 G>A), RS1000758817 (20:46378000 A>G), RS1000911893 (20:46385180 A>G), RS1000954119 (20:46405535 T>C), RS1000965634 (20:46399377 C>A,T), RS1000996930 (20:46399888 C>A,G,T), RS1001116900 (20:46376317 G>C), RS1001154339 (20:46392144 A>G), RS1001174502 (20:46400040 A>G)

Disease associations

OMIM: gene MIM:606421 | disease phenotypes: MIM:606893

GenCC curated gene-disease

Disease	Classification	Inheritance
primary intraosseous venous malformation	Strong	Autosomal recessive
Ramon syndrome	Supportive	Autosomal recessive

Mondo (2): primary intraosseous venous malformation (MONDO:0011744), Ramon syndrome (MONDO:0009954)

Orphanet (1): Familial intraosseous vascular malformation (Orphanet:140436)

HPO phenotypes

30 total (30 of 30 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000169	Gingival fibromatosis
HP:0000189	Narrow palate
HP:0000225	Gingival bleeding
HP:0000293	Full cheeks
HP:0000324	Facial asymmetry
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000520	Proptosis
HP:0000572	Visual loss
HP:0000593	Abnormal anterior chamber morphology
HP:0000682	Abnormal dental enamel morphology
HP:0000684	Delayed eruption of teeth
HP:0000819	Diabetes mellitus
HP:0000962	Hyperkeratosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001508	Failure to thrive
HP:0001537	Umbilical hernia
HP:0001540	Diastasis recti
HP:0001931	Hypochromic anemia
HP:0002230	Generalized hirsutism
HP:0002516	Increased intracranial pressure
HP:0002797	Osteolysis
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003676	Progressive
HP:0007703	Abnormal retinal pigmentation
HP:0100585	Telangiectasia of the skin
HP:0410276	Supraumbilical raphe
HP:4000093	Ectopic tooth eruption

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C535285	Ramon Syndrome (supp.)
C564648	Vascular Malformation, Primary Intraosseous (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression	3
bisphenol F	increases expression, affects cotreatment, decreases expression	2
Cisplatin	affects cotreatment, increases expression	2
Valproic Acid	affects expression, decreases methylation	2
triphenyl phosphate	affects expression	1
terbufos	decreases methylation	1
sodium arsenite	affects binding, increases reaction	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	increases abundance, increases expression	1
caffeic acid	decreases expression, increases reaction	1
di-n-butylphosphoric acid	affects expression	1
4-methoxycinnamate methyl ester	decreases expression, increases reaction	1
CGP 52608	affects binding, increases reaction	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Calcitriol	affects cotreatment, increases expression	1
Coumestrol	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Drugs, Chinese Herbal	increases reaction, decreases expression	1
Fonofos	decreases methylation	1
Fluorouracil	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.