ANKIB1

Summary

ANKIB1 (ankyrin repeat and IBR domain containing 1, HGNC:22215) is a protein-coding gene on chromosome 7q21.2, encoding Ankyrin repeat and IBR domain-containing protein 1 (Q9P2G1). Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates.

Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm.

Source: NCBI Gene 54467 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 135 total
• MANE Select transcript: NM_019004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22215
Approved symbol	ANKIB1
Name	ankyrin repeat and IBR domain containing 1
Location	7q21.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434A0225, KIAA1386
Ensembl gene	ENSG00000001629
Ensembl biotype	protein_coding
OMIM	620069
Entrez	54467

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000265742, ENST00000413588, ENST00000422095, ENST00000439883, ENST00000442183, ENST00000465883, ENST00000486698, ENST00000908966, ENST00000908967, ENST00000908968, ENST00000908969, ENST00000908970, ENST00000927528, ENST00000927529, ENST00000927530

RefSeq mRNA: 1 — MANE Select: NM_019004 NM_019004

CCDS: CCDS47639

Canonical transcript exons

ENST00000265742 — 20 exons

Exon	Start	End
ENSE00000434751	92307359	92307656
ENSE00000705085	92294889	92295166
ENSE00000705124	92319330	92319512
ENSE00000705130	92343024	92343232
ENSE00000705159	92344978	92345066
ENSE00000705178	92371477	92371607
ENSE00000877420	92392241	92392292
ENSE00000877426	92362185	92362273
ENSE00001132714	92245974	92246519
ENSE00001286463	92398212	92401383
ENSE00003462574	92327783	92327900
ENSE00003465330	92387798	92387884
ENSE00003475526	92387975	92388041
ENSE00003479192	92386509	92386643
ENSE00003488658	92391166	92391344
ENSE00003499530	92389971	92390116
ENSE00003520877	92396365	92396476
ENSE00003540495	92350950	92351094
ENSE00003604159	92397723	92397859
ENSE00003614924	92352476	92352642

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5034 / max 217.0966, expressed in 1810 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79518	10.7268	1793
79519	3.2542	1427
79520	1.9200	931
79521	0.4790	184
79522	0.1233	46

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	98.77	gold quality
calcaneal tendon	UBERON:0003701	98.60	gold quality
kidney epithelium	UBERON:0004819	97.75	gold quality
inferior vagus X ganglion	UBERON:0005363	97.29	gold quality
medial globus pallidus	UBERON:0002477	96.73	gold quality
globus pallidus	UBERON:0001875	96.64	gold quality
subthalamic nucleus	UBERON:0001906	96.03	gold quality
lateral globus pallidus	UBERON:0002476	95.78	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.51	gold quality
superior vestibular nucleus	UBERON:0007227	95.40	gold quality
medulla oblongata	UBERON:0001896	95.33	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.22	gold quality
pancreatic ductal cell	CL:0002079	95.16	silver quality
tendon	UBERON:0000043	95.02	gold quality
nipple	UBERON:0002030	94.99	gold quality
ventral tegmental area	UBERON:0002691	94.78	gold quality
substantia nigra pars compacta	UBERON:0001965	94.17	gold quality
secondary oocyte	CL:0000655	93.63	gold quality
adrenal tissue	UBERON:0018303	93.54	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.25	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.05	gold quality
pons	UBERON:0000988	92.92	gold quality
bone marrow cell	CL:0002092	92.70	gold quality
renal medulla	UBERON:0000362	92.32	gold quality
ileal mucosa	UBERON:0000331	92.29	gold quality
lower lobe of lung	UBERON:0008949	92.26	gold quality
upper arm skin	UBERON:0004263	92.20	gold quality
corpus epididymis	UBERON:0004359	92.10	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.90	gold quality
parietal lobe	UBERON:0001872	91.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

280 targeting ANKIB1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-27A-3P	99.98	72.13	2955

Literature-anchored findings (GeneRIF, showing 2)

• circCsnk1g3- and circAnkib1-regulated interferon responses in sarcoma promote tumorigenesis by shaping the immune microenvironment. (PMID:36433954)
• E3 ubiquitin ligase ANKIB1 attenuates antiviral immune responses by promoting K48-linked polyubiquitination of MAVS. (PMID:39213157)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankib1b	ENSDARG00000076829
mus_musculus	Ankib1	ENSMUSG00000040351
rattus_norvegicus	Ankib1	ENSRNOG00000005502
caenorhabditis_elegans		WBGENE00015926
caenorhabditis_elegans		WBGENE00021721

Paralogs (9): RNF14 (ENSG00000013561), RNF19A (ENSG00000034677), RNF19B (ENSG00000116514), RNF144B (ENSG00000137393), RNF217 (ENSG00000146373), RNF144A (ENSG00000151692), ARIH1 (ENSG00000166233), ARIH2 (ENSG00000177479), PRKN (ENSG00000185345)

Protein

Protein identifiers

Ankyrin repeat and IBR domain-containing protein 1 — Q9P2G1 (reviewed: Q9P2G1)

All UniProt accessions (5): C9JZ63, H7C0S0, H7C2L9, H7C2V2, Q9P2G1

UniProt curated annotations — full annotation on UniProt →

Function. Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates.

Domain organisation. Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.

Similarity. Belongs to the RBR family.

RefSeq proteins (1): NP_061877* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR002867	IBR_dom	Domain
IPR003903	UIM_dom	Conserved_site
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR031127	E3_UB_ligase_RBR	Family
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR044066	TRIAD_supradom	Domain
IPR045840	Ariadne	Domain
IPR047563	RING-HC_RBR_ANKIB1	Domain
IPR047564	Rcat_RBR_ANKIB1	Domain

Pfam: PF00023, PF01485, PF12796, PF19422, PF22191

UniProt features (45 total): binding site 20, region of interest 6, compositionally biased region 3, modified residue 3, zinc finger region 3, repeat 2, initiator methionine 1, chain 1, coiled-coil region 1, active site 1, domain 1, lipid moiety-binding region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2G1-F1	66.52	0.27

Functional residue map

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

Catalytic / active sites (1): 532

Ligand- & substrate-binding residues (20): 333; 336; 351; 353; 356; 359; 378; 383; 465; 468; 473; 478 …

Post-translational modifications (4): 737, 884, 911, 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 197 (showing top): GOBP_MACROMOLECULE_CATABOLIC_PROCESS, PATIL_LIVER_CANCER, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOMF_ACYLTRANSFERASE_ACTIVITY, GOCC_UBIQUITIN_LIGASE_COMPLEX, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_CONJUGATING_ENZYME_BINDING, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_DN, ATF6_TARGET_GENES, DLX4_TARGET_GENES

GO Biological Process (2): ubiquitin-dependent protein catabolic process (GO:0006511), protein ubiquitination (GO:0016567)

GO Molecular Function (7): zinc ion binding (GO:0008270), ubiquitin conjugating enzyme binding (GO:0031624), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (2): ubiquitin ligase complex (GO:0000151), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
modification-dependent protein catabolic process	1
protein modification by small protein conjugation	1
transition metal ion binding	1
ubiquitin-like protein conjugating enzyme binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-like protein transferase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular protein-containing complex	1
transferase complex	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

812 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKIB1	CWF19L2	Q2TBE0	543
ANKIB1	FNIP2	Q9P278	534
ANKIB1	CUL7	Q14999	516
ANKIB1	RNF216	Q9NWF9	492
ANKIB1	RBM48	Q5RL73	477
ANKIB1	ZFP62	Q8NB50	463
ANKIB1	BIRC7	Q96CA5	452
ANKIB1	LRRD1	A4D1F6	431
ANKIB1	GATAD1	Q8WUU5	399
ANKIB1	SPIDR	Q14159	383
ANKIB1	SUSD1	Q6UWL2	378
ANKIB1	RIPOR3	Q96MK2	377
ANKIB1	STK35	Q8TDR2	369
ANKIB1	Q08EI0	Q08EI0	368
ANKIB1	DYNLRB2	Q8TF09	359

IntAct

8 interactions, top by confidence:

A	B	Type	Score
ARRDC4	WWP2	psi-mi:“MI:0914”(association)	0.530
KCNE3	RIOK3	psi-mi:“MI:0914”(association)	0.530
NR4A1	ANKIB1	psi-mi:“MI:0915”(physical association)	0.520
ANKIB1	TSC1	psi-mi:“MI:0915”(physical association)	0.370
ANKIB1	KPNA2	psi-mi:“MI:0915”(physical association)	0.370
	ABCD4	psi-mi:“MI:0914”(association)	0.350
ANKIB1	NR4A1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): ANKIB1 (Affinity Capture-RNA), ANKIB1 (Reconstituted Complex), ANKIB1 (Affinity Capture-MS), ANKIB1 (Affinity Capture-RNA), ANKIB1 (Affinity Capture-MS), ANKIB1 (Reconstituted Complex), ANKIB1 (Affinity Capture-MS), ANKIB1 (Two-hybrid), ANKIB1 (Protein-peptide), ANKIB1 (Affinity Capture-MS), ANKIB1 (Reconstituted Complex), ANKIB1 (Affinity Capture-MS), DMD (Cross-Linking-MS (XL-MS)), ANKIB1 (Affinity Capture-Western), MAVS (Affinity Capture-Western)

ESM2 similar proteins: A0A1D5PXA5, O18784, O35119, O35433, O62852, P0C550, P19334, P34586, P34641, P48994, P48995, P69744, P79100, P97414, Q0JKV1, Q12324, Q5ICL9, Q61056, Q697L1, Q6R5A3, Q6RX08, Q704Y3, Q875M2, Q8GXE6, Q8K424, Q8NER1, Q8NET8, Q91WD2, Q96L42, Q9EPK8, Q9ERZ8, Q9H1D0, Q9HBA0, Q9JIP0, Q9MYV9, Q9NQA5, Q9P2G1, Q9QUQ5, Q9QX01, Q9QX29

Diamond homologs: O01965, Q1L8G6, Q54CX4, Q5UQ35, Q6T486, Q6ZPS6, Q84RR0, Q94981, Q9LVW9, Q9LVX0, Q9P2G1, Q9SKC3, Q9SKC4, A2A7Q9, A2VEA3, A4IIY1, B1H1E4, P0C8K8, P36113, P50636, Q08B84, Q1L8L6, Q2VJ60, Q32NS4, Q6NW85, Q6PFJ9, Q6ZMZ0, Q8BKD6, Q8L829, Q8W468, Q9JI90, Q9NV58, Q9P3U4, Q9SKC2, Q9UBS8, Q9Y4X5, Q9Z1K5, D3YYI7, O76924, O95376

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	ANKIB1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3356 predictions. Top by Δscore:

Variant	Effect	Δscore
7:92246382:G:GT	donor_gain	1.0000
7:92294884:A:AG	acceptor_gain	1.0000
7:92294885:T:G	acceptor_gain	1.0000
7:92294887:A:AG	acceptor_gain	1.0000
7:92294887:AGAAT:A	acceptor_gain	1.0000
7:92294888:G:GA	acceptor_gain	1.0000
7:92294888:G:T	acceptor_loss	1.0000
7:92294888:GA:G	acceptor_gain	1.0000
7:92294888:GAA:G	acceptor_gain	1.0000
7:92294888:GAAT:G	acceptor_gain	1.0000
7:92294888:GAATG:G	acceptor_gain	1.0000
7:92295162:TTAGG:T	donor_gain	1.0000
7:92295164:AGGG:A	donor_loss	1.0000
7:92295165:GG:G	donor_gain	1.0000
7:92295166:GG:G	donor_gain	1.0000
7:92295167:G:GA	donor_loss	1.0000
7:92295167:G:GG	donor_gain	1.0000
7:92307354:TTTA:T	acceptor_loss	1.0000
7:92307357:A:AG	acceptor_gain	1.0000
7:92307357:AG:A	acceptor_gain	1.0000
7:92307358:G:A	acceptor_loss	1.0000
7:92307358:G:GA	acceptor_gain	1.0000
7:92307358:GG:G	acceptor_gain	1.0000
7:92307358:GGA:G	acceptor_gain	1.0000
7:92307358:GGAC:G	acceptor_gain	1.0000
7:92307358:GGACT:G	acceptor_gain	1.0000
7:92307653:AGAGG:A	donor_loss	1.0000
7:92307654:GAGG:G	donor_loss	1.0000
7:92307655:AGG:A	donor_loss	1.0000
7:92307656:GG:G	donor_loss	1.0000

AlphaMissense

7231 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:92295001:T:C	F8S	1.000
7:92295004:G:C	R9P	1.000
7:92295013:T:A	L12H	1.000
7:92295013:T:C	L12P	1.000
7:92307398:T:A	N76K	1.000
7:92307398:T:G	N76K	1.000
7:92307628:C:A	A153D	1.000
7:92319385:C:A	P181H	1.000
7:92319397:C:A	A185D	1.000
7:92319433:T:C	L197P	1.000
7:92327811:T:C	L233P	1.000
7:92327823:A:T	K237I	1.000
7:92327824:A:C	K237N	1.000
7:92327824:A:T	K237N	1.000
7:92327832:T:C	L240P	1.000
7:92327846:G:C	A245P	1.000
7:92327856:T:C	L248P	1.000
7:92327877:C:A	A255D	1.000
7:92327889:T:A	L259H	1.000
7:92327889:T:C	L259P	1.000
7:92343026:T:A	W264R	1.000
7:92343026:T:C	W264R	1.000
7:92343027:G:C	W264S	1.000
7:92343028:G:C	W264C	1.000
7:92343028:G:T	W264C	1.000
7:92343053:T:A	W273R	1.000
7:92343053:T:C	W273R	1.000
7:92344978:T:C	C333R	1.000
7:92344979:G:A	C333Y	1.000
7:92344980:T:G	C333W	1.000

dbSNP variants (sampled 300 via entrez): RS1000024607 (7:92322985 T>C), RS1000039475 (7:92355724 C>T), RS1000043511 (7:92368311 AAG>A), RS1000050623 (7:92281943 A>G), RS1000070054 (7:92370880 G>C), RS1000098096 (7:92348816 A>G), RS1000128633 (7:92300786 A>G), RS1000132944 (7:92256818 C>T), RS1000148529 (7:92318266 A>G), RS1000185485 (7:92269755 A>G), RS1000221807 (7:92284650 T>C), RS1000238789 (7:92361824 T>C,G), RS1000263702 (7:92308223 C>T), RS1000294237 (7:92301225 G>A), RS1000312229 (7:92361669 AT>A,ATT)

Disease associations

OMIM: gene MIM:620069 | disease phenotypes: MIM:600419

GenCC curated gene-disease

Mondo (2): cerebral cavernous malformation (MONDO:0000820), angiokeratoma corporis diffusum with arteriovenous fistulas (MONDO:0010885)

Orphanet (2): Familial cerebral cavernous malformation (Orphanet:221061), NON RARE IN EUROPE: Cerebral cavernous malformations (Orphanet:164)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006396_10	Disrupted circadian rhythm (low relative amplitude of rest-activity cycles)	2.000000e-06
GCST90013420_6	Ambidextrousness	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009902	handedness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563940	Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Air Pollutants	increases abundance, decreases expression	2
Endosulfan	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
arsenite	affects binding, decreases reaction	1
manganese chloride	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
bicalutamide	increases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Caffeine	increases phosphorylation	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance	1
Phthalic Acids	decreases methylation	1
Smoke	decreases expression, increases abundance	1
Tretinoin	increases expression	1
Valproic Acid	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03589014	PHASE2	COMPLETED	Treat_CCM: Propranolol in Familial Cerebral Cavernous Malformation
NCT05085561	PHASE2	COMPLETED	The Symptomatic Cerebral Cavernous Malformation Trial of REC-994
NCT02603328	PHASE1/PHASE2	COMPLETED	Atorvastatin Treatment of Cavernous Angiomas With Symptomatic Hemorrhage Exploratory Proof of Concept (AT CASH EPOC) Trial
NCT02946866	Not specified	UNKNOWN	CoHOrt of Cerebral CavernOus maLformATion: multicEnter Prospective Observational Study
NCT03652181	Not specified	COMPLETED	CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness
NCT04467489	Not specified	ACTIVE_NOT_RECRUITING	Biomarkers of CASH
NCT05148663	Not specified	TERMINATED	CCM Blood Biomarker Validation Study
NCT05298709	Not specified	TERMINATED	Functional Magnetic Resonance Imaging (fMRI) Vascular Reactivity in Cerebral Cavernous Malformations (CCM)
NCT06983132	Not specified	RECRUITING	Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study