AVEN

Summary

AVEN (apoptosis and caspase activation inhibitor, HGNC:13509) is a protein-coding gene on chromosome 15q14, encoding Cell death regulator Aven (Q9NQS1). Protects against apoptosis mediated by Apaf-1.

Involved in negative regulation of apoptotic process. Located in membrane.

Source: NCBI Gene 57099 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 290 total — 1 likely-pathogenic
• MANE Select transcript: NM_020371

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13509
Approved symbol	AVEN
Name	apoptosis and caspase activation inhibitor
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	PDCD12
Ensembl gene	ENSG00000169857
Ensembl biotype	protein_coding
OMIM	605265
Entrez	57099

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000306730, ENST00000558136, ENST00000560649, ENST00000675287, ENST00000964282, ENST00000964283

RefSeq mRNA: 1 — MANE Select: NM_020371 NM_020371

CCDS: CCDS10030

Canonical transcript exons

ENST00000306730 — 6 exons

Exon	Start	End
ENSE00001142566	33867495	33867855
ENSE00001210306	34003032	34003209
ENSE00001235819	33866227	33866728
ENSE00001235829	34038780	34039204
ENSE00003459236	33870935	33871030
ENSE00003620677	33875925	33875995

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 91.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8554 / max 275.0111, expressed in 1794 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149221	17.8554	1794

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart right ventricle	UBERON:0002080	91.25	gold quality
cervix squamous epithelium	UBERON:0006922	91.18	silver quality
ascending aorta	UBERON:0001496	89.67	gold quality
gluteal muscle	UBERON:0002000	89.50	gold quality
thoracic aorta	UBERON:0001515	89.48	gold quality
heart left ventricle	UBERON:0002084	89.17	gold quality
cardiac ventricle	UBERON:0002082	88.99	gold quality
gastrocnemius	UBERON:0001388	88.73	gold quality
apex of heart	UBERON:0002098	88.35	gold quality
gingival epithelium	UBERON:0001949	88.15	gold quality
muscle of leg	UBERON:0001383	87.97	gold quality
left ventricle myocardium	UBERON:0006566	87.91	silver quality
decidua	UBERON:0002450	87.85	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.75	silver quality
right coronary artery	UBERON:0001625	87.71	gold quality
left coronary artery	UBERON:0001626	87.54	gold quality
myocardium	UBERON:0002349	87.45	silver quality
muscle organ	UBERON:0001630	87.36	gold quality
aorta	UBERON:0000947	86.77	gold quality
heart	UBERON:0000948	86.76	gold quality
oocyte	CL:0000023	86.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.67	gold quality
coronary artery	UBERON:0001621	86.62	gold quality
gingiva	UBERON:0001828	86.51	gold quality
vastus lateralis	UBERON:0001379	86.14	silver quality
descending thoracic aorta	UBERON:0002345	85.61	gold quality
quadriceps femoris	UBERON:0001377	85.60	silver quality
diaphragm	UBERON:0001103	85.51	gold quality
biceps brachii	UBERON:0001507	85.46	gold quality
skeletal muscle tissue	UBERON:0001134	85.44	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.75
E-GEOD-124858	no	124.59
E-MTAB-4850	no	17.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting AVEN, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-4312	99.34	67.30	511
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-338-3P	98.14	67.38	1137
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-3977	98.00	68.17	1500
HSA-MIR-892B	98.00	67.11	821
HSA-MIR-634	97.74	67.11	818
HSA-MIR-630	97.50	66.38	921
HSA-MIR-938	97.41	68.28	656

Literature-anchored findings (GeneRIF, showing 16)

• Aven expression was found to be higher in patients >or=10 years old or <1 year, and with unfavorable cytogenetic abnormalities. It was also significantly higher in relapsed patients in the standard-risk group and an independent poor prognostic factor. (PMID:16388850)
• point mutation observed by transcriptome sequencing of malignant pleural mesothelioma tumors (PMID:18303113)
• These results identify Aven as a new ATM activator and describe a positive feedback loop operating between Aven and ATM; in aggregate, these findings place Aven, a known apoptotic inhibitor, as a critical transducer of the DNA-damage signal. (PMID:18571408)
• the expression level of aven mRNA in de novo AML patients obviously increases (PMID:20030919)
• Results suggest that the regulation of Exportin-1/CRM1-dependent nucleocytoplasmatic traffic of Aven could modulate its ability to influence cell cycle progression. (PMID:20935510)
• The results suggest that deregulation of the expression of the apoptosis inhibitor Aven may be related to male factor infertility. (PMID:21718987)
• a model of Aven activation by which its N-terminal inhibitory domain is removed by CathD-mediated proteolysis, thereby unleashing its cytoprotective function. (PMID:22388353)
• Overexpression of the anti-apoptotic protein AVEN contributes to increased malignancy in hematopoietic neoplasms. (PMID:22751129)
• the expression of Aven is regulated by the Akt signaling pathway through cathepsin D activity, which contributes to the sensitivity of cancer cells to chemotherapeutic agents. (PMID:25573060)
• The findings implicate Aven in ATR-Chk1 signalling and point towards Chk1 inhibition as a strategy to sensitize human osteosarcomas to chemotherapy. (PMID:25757065)
• The Aven RGG/RG motif bound G4 structures within the coding regions of the MLL1 and MLL4 mRNAs increasing their polysomal association and translation, resulting in the induction of transcription of leukemic genes. (PMID:26267306)
• AVEN and BIRC6 are inhibited by combination therapy of miR-30e and proanthocyanidin in glioblastoma stem cells (PMID:27388765)
• Expression of granulosa cell microRNAs, AVEN and ATRX are associated with human blastocyst development. (PMID:29693772)
• MiR-30b-5p expression was found to be significantly upregulated in hypoxic cardiomyocytes, AC16 cells. The in vitro experiments showed that downregulation of miR-30b-5p effectively alleviated hypoxia-induced cardiomyocyte injury. Aven is a potential target gene of miR-30b-5p and its downregulation could partially reverse the influence of miR-30b-5p knockdown on AC16 cells under hypoxia. (PMID:31768184)
• MicroRNA-30a contributes to pre-eclampsia through regulating the proliferation, apoptosis, and angiogenesis modulation potential of mesenchymal stem cells by targeting AVEN. (PMID:35322749)
• Downregulation of apoptotic repressor AVEN exacerbates cardiac injury after myocardial infarction. (PMID:37816050)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	aven	ENSDARG00000002894
mus_musculus	Aven	ENSMUSG00000003604
rattus_norvegicus	Aven	ENSRNOG00000006419

Protein

Protein identifiers

Cell death regulator Aven — Q9NQS1 (reviewed: Q9NQS1)

All UniProt accessions (2): Q9NQS1, H0YKR0

UniProt curated annotations — full annotation on UniProt →

Function. Protects against apoptosis mediated by Apaf-1.

Subunit / interactions. Binds Apaf-1, BCL-2 and BAD (Bcl-xl).

Subcellular location. Endomembrane system.

Tissue specificity. Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart, skeletal muscle, liver, kidney and pancreas.

RefSeq proteins (1): NP_065104* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026187	Aven	Family

UniProt features (13 total): compositionally biased region 6, region of interest 3, modified residue 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQS1-F1	58.86	0.06

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 (2): 94, 230

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-111458	Formation of apoptosome
R-HSA-9627069	Regulation of the apoptosome activity
R-HSA-109581	Apoptosis
R-HSA-109606	Intrinsic Pathway for Apoptosis
R-HSA-111461	Cytochrome c-mediated apoptotic response
R-HSA-111471	Apoptotic factor-mediated response
R-HSA-5357801	Programmed Cell Death

MSigDB gene sets: 133 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_CELL_CYCLE_PHASE_TRANSITION, chr15q14, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_MITOTIC_CELL_CYCLE, GOBP_CELL_CYCLE_G2_M_PHASE_TRANSITION

GO Biological Process (3): apoptotic process (GO:0006915), negative regulation of G2/M transition of mitotic cell cycle (GO:0010972), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Cytochrome c-mediated apoptotic response	1
Formation of apoptosome	1
Programmed Cell Death	1
Apoptosis	1
Apoptotic factor-mediated response	1
Intrinsic Pathway for Apoptosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
G2/M transition of mitotic cell cycle	1
regulation of G2/M transition of mitotic cell cycle	1
negative regulation of mitotic cell cycle phase transition	1
negative regulation of cell cycle G2/M phase transition	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
binding	1
cytoplasm	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

594 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AVEN	APAF1	O14727	961
AVEN	BCL2L1	Q07817	957
AVEN	FOCAD	Q5VW36	627
AVEN	CASP9	P55211	583
AVEN	DHX36	Q9H2U1	503
AVEN	BNIP5	P0C671	468
AVEN	TTC7B	Q86TV6	425
AVEN	CASP8	Q14790	408
AVEN	WTIP	A6NIX2	393
AVEN	RPL39	P02404	390
AVEN	MAGED4B	Q96JG8	378
AVEN	CASP5	P51878	369
AVEN	SEC63	Q9UGP8	369
AVEN	HIPK4	Q8NE63	364
AVEN	ABLIM2	Q6H8Q1	363
AVEN	NDC1	Q9BTX1	363

IntAct

15 interactions, top by confidence:

A	B	Type	Score
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
APAF1	AVEN	psi-mi:“MI:0915”(physical association)	0.400
AVEN	APAF1	psi-mi:“MI:0915”(physical association)	0.400
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
DRG1	RPS3A	psi-mi:“MI:0914”(association)	0.350
PSPC1	MCRIP1	psi-mi:“MI:0914”(association)	0.350
RBM8A	MCRIP1	psi-mi:“MI:0914”(association)	0.350
RPS16	MCRIP1	psi-mi:“MI:0914”(association)	0.350
ANAPC15	U2SURP	psi-mi:“MI:0914”(association)	0.350
DDX55	URB1	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): AVEN (Affinity Capture-RNA), AVEN (Affinity Capture-RNA), AVEN (Affinity Capture-MS), AVEN (Affinity Capture-MS), AVEN (Affinity Capture-MS), AVEN (Affinity Capture-MS), AVEN (Affinity Capture-MS), AVEN (Two-hybrid), Atm (Two-hybrid), atm (Reconstituted Complex), ATM (Affinity Capture-Western), AVEN (Proximity Label-MS), AVEN (Proximity Label-MS), AVEN (Proximity Label-MS), AVEN (Proximity Label-MS)

ESM2 similar proteins: A0A088MLT8, A5PJX4, B3KU38, P04198, P07516, P0DPB3, P0DPB4, P12755, P18302, P18444, P49796, P97432, Q0D2K3, Q14DQ1, Q15554, Q1W6H9, Q2KI80, Q2WG76, Q3ZK22, Q5E9K8, Q5FVM3, Q5TAB7, Q5VT97, Q5XI52, Q5XKK7, Q61976, Q6J4I0, Q6P2K3, Q80YE2, Q8C4S8, Q8CEG5, Q8IWP9, Q8N344, Q8NE31, Q924S9, Q96A56, Q96MH2, Q9BQ61, Q9BUN5, Q9CZ05

Diamond homologs: Q9D9K3, Q9NQS1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ATM	“up-regulates activity”	AVEN	phosphorylation
AVEN	“up-regulates activity”	ATM	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 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
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	5	37.5×	2e-05
Regulation of expression of SLITs and ROBOs	5	26.6×	6e-05

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	5	57.9×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	199
Likely benign	52
Benign	9

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	Likely pathogenic

SpliceAI

3185 predictions. Top by Δscore:

Variant	Effect	Δscore
15:33859570:TCTA:T	acceptor_loss	1.0000
15:33859571:CTAGT:C	acceptor_loss	1.0000
15:33859572:TAG:T	acceptor_loss	1.0000
15:33859573:A:AG	acceptor_gain	1.0000
15:33859573:AGT:A	acceptor_gain	1.0000
15:33859574:G:GA	acceptor_gain	1.0000
15:33859574:GT:G	acceptor_gain	1.0000
15:33859574:GTG:G	acceptor_gain	1.0000
15:33859574:GTGT:G	acceptor_gain	1.0000
15:33859574:GTGTT:G	acceptor_gain	1.0000
15:33859729:AAG:A	donor_loss	1.0000
15:33859730:AGGTA:A	donor_loss	1.0000
15:33859732:G:C	donor_loss	1.0000
15:33859733:T:G	donor_loss	1.0000
15:33860658:AGGTA:A	donor_loss	1.0000
15:33860659:GGTAA:G	donor_loss	1.0000
15:33860661:T:G	donor_loss	1.0000
15:33861179:G:GG	donor_gain	1.0000
15:33865125:TTTCA:T	acceptor_loss	1.0000
15:33865126:TTCA:T	acceptor_loss	1.0000
15:33865128:CAGG:C	acceptor_loss	1.0000
15:33865129:AGGA:A	acceptor_loss	1.0000
15:33866724:ACAAA:A	acceptor_gain	1.0000
15:33866725:CAAA:C	acceptor_gain	1.0000
15:33866725:CAAAC:C	acceptor_gain	1.0000
15:33866726:AAA:A	acceptor_gain	1.0000
15:33866727:AA:A	acceptor_gain	1.0000
15:33866728:AC:A	acceptor_loss	1.0000
15:33866729:C:A	acceptor_loss	1.0000
15:33866729:C:CC	acceptor_gain	1.0000

AlphaMissense

2311 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:33866632:A:G	L357S	0.999
15:33875977:A:G	F155S	0.998
15:34003123:C:A	W118C	0.998
15:34003123:C:G	W118C	0.998
15:34003125:A:G	W118R	0.998
15:34003125:A:T	W118R	0.998
15:33875976:G:C	F155L	0.996
15:33875976:G:T	F155L	0.996
15:33875978:A:G	F155L	0.996
15:34003054:G:C	F141L	0.996
15:34003054:G:T	F141L	0.996
15:34003056:A:G	F141L	0.996
15:34003141:T:A	R112S	0.996
15:34003141:T:G	R112S	0.996
15:33866636:A:G	W356R	0.995
15:33866636:A:T	W356R	0.995
15:34003046:A:G	L144P	0.995
15:33866620:A:G	I361T	0.994
15:33866634:C:A	W356C	0.994
15:33866634:C:G	W356C	0.994
15:33875952:C:A	W163C	0.994
15:33875952:C:G	W163C	0.994
15:33875954:A:G	W163R	0.994
15:33875954:A:T	W163R	0.994
15:33875971:A:G	F157S	0.994
15:33875977:A:C	F155C	0.994
15:33866620:A:C	I361S	0.993
15:34003046:A:T	L144H	0.993
15:34003055:A:G	F141S	0.993
15:34003043:A:G	L145P	0.992

dbSNP variants (sampled 300 via entrez): RS1000006925 (15:34053652 TCCTTATA>T), RS1000008054 (15:34069352 T>G), RS1000010523 (15:33883620 T>C), RS1000011239 (15:33945427 T>A), RS1000033054 (15:33979250 G>A,T), RS1000035772 (15:33891324 T>C,G), RS1000060238 (15:33956487 G>A), RS1000060906 (15:33883868 A>C,G), RS1000089211 (15:33996366 A>G), RS1000106212 (15:33903414 C>T), RS1000108469 (15:33867650 G>A,C), RS1000113118 (15:33974018 A>G), RS1000114881 (15:34003465 T>A,C), RS1000143686 (15:33969879 T>C), RS1000161863 (15:33912077 T>C)

Disease associations

OMIM: gene MIM:605265 | disease phenotypes: MIM:617468, MIM:208150

GenCC curated gene-disease

Mondo (3): primary amenorrhea (MONDO:1060208), arthrogryposis multiplex congenita (MONDO:0015168), fetal akinesia deformation sequence 1 (MONDO:0100101)

Orphanet (2): Arthrogryposis multiplex congenita (Orphanet:1037), Fetal akinesia deformation sequence (Orphanet:994)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010725_22	Malaria	3.000000e-06
GCST010725_37	Malaria	3.000000e-06
GCST010725_54	Malaria	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	6
Cyclosporine	increases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, decreases methylation, affects methylation	2
Fluorouracil	decreases expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression, decreases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
FR900359	increases phosphorylation	1
propylparaben	increases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
arsenite	affects binding, increases reaction	1
methylparaben	increases expression	1
cupric chloride	increases expression	1
phenanthrene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
belinostat	decreases expression	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Gefitinib	affects response to substance	1
Temozolomide	increases expression	1
Vorinostat	decreases expression	1
Arsenic	increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Drugs, Chinese Herbal	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07164248	Not specified	COMPLETED	Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice
NCT05393375	Not specified	COMPLETED	Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05673265	Not specified	UNKNOWN	Pediatric and Adult Registry for Patients With ARThrogryposis
NCT06130592	Not specified	UNKNOWN	Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
NCT07360574	Not specified	NOT_YET_RECRUITING	Piezo2-related Arthrogryposis & physiopathOLOgy 3