RNF212

Summary

RNF212 (ring finger protein 212, HGNC:27729) is a protein-coding gene on chromosome 4p16.3, encoding Probable E3 SUMO-protein ligase RNF212 (Q495C1). SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes.

This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 285498 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure 62 (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 80 total — 1 pathogenic
• Phenotypes (HPO): 10
• MANE Select transcript: NM_001131034

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27729
Approved symbol	RNF212
Name	ring finger protein 212
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38841
Ensembl gene	ENSG00000178222
Ensembl biotype	protein_coding
OMIM	612041
Entrez	285498

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 6 retained_intron, 4 protein_coding, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000333673, ENST00000382968, ENST00000433731, ENST00000454487, ENST00000503206, ENST00000505693, ENST00000505730, ENST00000506730, ENST00000508428, ENST00000508633, ENST00000510715, ENST00000511620, ENST00000512552, ENST00000514024, ENST00000514757, ENST00000698262

RefSeq mRNA: 5 — MANE Select: NM_001131034 NM_001131034, NM_001193318, NM_001366918, NM_001366919, NM_194439

CCDS: CCDS3345, CCDS46996, CCDS54704, CCDS93460

Canonical transcript exons

ENST00000433731 — 10 exons

Exon	Start	End
ENSE00003498298	1085896	1085954
ENSE00003512285	1073599	1073662
ENSE00003523446	1071478	1073193
ENSE00003624621	1081567	1081619
ENSE00003627968	1079643	1079688
ENSE00003673413	1081419	1081467
ENSE00003673761	1090782	1090838
ENSE00003683071	1108343	1108404
ENSE00003691287	1096765	1096839
ENSE00003847245	1113356	1113564

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 94.25.

FANTOM5 (CAGE): breadth broad, TPM avg 1.5898 / max 117.1939, expressed in 506 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51037	1.5898	506

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	94.25	gold quality
cerebellar hemisphere	UBERON:0002245	91.78	gold quality
left ovary	UBERON:0002119	91.66	gold quality
cerebellar cortex	UBERON:0002129	91.66	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.32	gold quality
adenohypophysis	UBERON:0002196	90.80	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.69	gold quality
pituitary gland	UBERON:0000007	90.21	gold quality
cerebellum	UBERON:0002037	89.90	gold quality
oocyte	CL:0000023	88.92	gold quality
left testis	UBERON:0004533	88.20	gold quality
right testis	UBERON:0004534	88.11	gold quality
right ovary	UBERON:0002118	87.98	gold quality
nucleus accumbens	UBERON:0001882	87.95	gold quality
putamen	UBERON:0001874	87.31	gold quality
right lobe of thyroid gland	UBERON:0001119	86.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.37	gold quality
pancreas	UBERON:0001264	86.36	gold quality
metanephros cortex	UBERON:0010533	86.31	gold quality
left lobe of thyroid gland	UBERON:0001120	86.04	gold quality
caudate nucleus	UBERON:0001873	85.96	gold quality
testis	UBERON:0000473	85.88	gold quality
thyroid gland	UBERON:0002046	85.67	gold quality
ovary	UBERON:0000992	85.57	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.89	gold quality
stromal cell of endometrium	CL:0002255	84.68	gold quality
mucosa of stomach	UBERON:0001199	84.05	gold quality
secondary oocyte	CL:0000655	83.98	gold quality
left uterine tube	UBERON:0001303	83.38	gold quality
spinal cord	UBERON:0002240	82.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting RNF212, 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-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514

Literature-anchored findings (GeneRIF, showing 4)

• This paper describes a partial transcript of the human RNF212 gene. (PMID:15340062)
• genome search identified sequence variants in the 4p16.3 region correlated with recombination rate in males & females; variants are located in the RNF212 gene, a putative ortholog of ZHP-3 gene essential for recombination & chiasma formation in C elegans (PMID:18239089)
• The polymorphism of SNP rs4045481 in RNF212 gene might be associated with azoospermia and genotype CC of this SNP may be a risk factor of azoospermia. (PMID:29277047)
• For the first time, study reports biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of non-obstructive azoospermia. Meiotic studies allowed the detection of the functional consequences of the mutations and provided information on the role of STAG3 and RNF212 in human male meiosis. (PMID:31125047)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf212	ENSDARG00000090319
mus_musculus	Rnf212	ENSMUSG00000055385
rattus_norvegicus	Rnf212	ENSRNOG00000059010
drosophila_melanogaster	narya	FBGN0031018
drosophila_melanogaster	nenya	FBGN0051053
caenorhabditis_elegans	zhp-3	WBGENE00006976
caenorhabditis_elegans	zhp-2	WBGENE00008387
caenorhabditis_elegans		WBGENE00012678
caenorhabditis_elegans	zhp-1	WBGENE00018867

Paralogs (1): RNF212B (ENSG00000215277)

Protein

Protein identifiers

Probable E3 SUMO-protein ligase RNF212 — Q495C1 (reviewed: Q495C1)

Alternative names: Probable E3 SUMO-protein transferase RNF212, RING finger protein 212

All UniProt accessions (4): Q495C1, A0A8V8TN20, D6R9L2, D6RA97

UniProt curated annotations — full annotation on UniProt →

Function. SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination.

Subcellular location. Nucleus. Chromosome.

Disease relevance. Spermatogenic failure 62 (SPGF62) [MIM:619673] An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to complete metaphase arrest at the spermatocyte stage. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein sumoylation.

Polymorphism. Genetic variations in RNF212 influence recombination rate, designated recombination rate quantitative trait locus 1 (RRQTL1) [MIM:612042].

Isoforms (6)

UniProt ID	Names	Canonical?
Q495C1-1	1	yes
Q495C1-2	2
Q495C1-3	3
Q495C1-4	4
Q495C1-5	5
Q495C1-6	6

RefSeq proteins (5): NP_001124506, NP_001180247, NP_001353847, NP_001353848, NP_919420 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR017907	Znf_RING_CS	Conserved_site
IPR042123	Zip3/RNF212-like	Family

Pfam: PF14634

UniProt features (16 total): splice variant 7, sequence conflict 5, chain 1, zinc finger region 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q495C1-F1	63.72	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 92 (showing top): GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_ORGANELLE_FISSION, GOBP_PROTEIN_SUMOYLATION, chr4p16, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_HOMOLOGOUS_CHROMOSOME_PAIRING_AT_MEIOSIS, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE, GOBP_CELL_CYCLE_PROCESS, GOBP_DNA_METABOLIC_PROCESS

GO Biological Process (6): meiotic gene conversion (GO:0006311), homologous chromosome pairing at meiosis (GO:0007129), reciprocal meiotic recombination (GO:0007131), protein sumoylation (GO:0016925), chiasma assembly (GO:0051026), meiotic cell cycle (GO:0051321)

GO Molecular Function (4): zinc ion binding (GO:0008270), SUMO transferase activity (GO:0019789), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): synaptonemal complex (GO:0000795), nucleus (GO:0005634), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
meiotic cell cycle process	2
gene conversion	1
meiosis I cell cycle process	1
homologous chromosome segregation	1
chromosome organization involved in meiotic cell cycle	1
meiosis I	1
reciprocal homologous recombination	1
peptidyl-lysine modification	1
protein modification by small protein conjugation	1
homologous chromosome pairing at meiosis	1
reciprocal meiotic recombination	1
cellular component assembly	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
transition metal ion binding	1
ubiquitin-like protein transferase activity	1
catalytic activity	1
cation binding	1
synaptonemal structure	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF212	CCNB1IP1	Q9NPC3	905
RNF212	CNTD1	Q8N815	833
RNF212	MSH4	O15457	816
RNF212	SPO11	Q9Y5K1	813
RNF212	RAD51	Q06609	801
RNF212	TEX11	Q8IYF3	774
RNF212	MSH5	O43196	754
RNF212	REC8	O95072	725
RNF212	PRDM9	Q9NQV7	720
RNF212	SHOC1	Q5VXU9	713
RNF212	HFM1	A2PYH4	670
RNF212	HORMAD1	Q86X24	641
RNF212	C1orf146	Q5VVC0	608
RNF212	CPLX1	O14810	607
RNF212	SYCP1	Q15431	601

IntAct

3 interactions, top by confidence:

A	B	Type	Score
RNF212	RPSA2	psi-mi:“MI:0914”(association)	0.350
rpoB	RNF212	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): SRC (Affinity Capture-MS), SATB2 (Affinity Capture-MS), RPSAP58 (Affinity Capture-MS), RNF212 (Affinity Capture-MS), RNF212 (Affinity Capture-RNA)

ESM2 similar proteins: A0A5K7RLP0, A1YEX3, A2AGX3, A2AKB4, A7YWH3, A8MVX0, C9JSJ3, O08715, O88286, O88884, P24278, P97303, P97432, Q17RG1, Q1XFL1, Q3KNY0, Q3USH1, Q495C1, Q4V7B1, Q501R9, Q562E2, Q5SYB0, Q5VT97, Q5XIN1, Q6P2K3, Q6PCP7, Q6ZSG2, Q7TSX9, Q80SU3, Q80TL0, Q80W88, Q80XI1, Q8BLK9, Q8BSV3, Q8BW86, Q8K3E9, Q8K451, Q8N7W2, Q8NE31, Q8NFN8

Diamond homologs: A8MTL3, C6KRL6, D3Z423, Q495C1, Q5RBV9, F6TQD1, Q8MYP1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF212	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	43
Likely benign	12
Benign	7

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1050640	NM_001131034.4(RNF212):c.111dup (p.Lys38Ter)	Pathogenic

SpliceAI

2151 predictions. Top by Δscore:

Variant	Effect	Δscore
4:1073663:C:CC	acceptor_gain	1.0000
4:1113354:A:AT	donor_loss	1.0000
4:1113355:C:CG	donor_loss	1.0000
4:1073157:C:CT	acceptor_gain	0.9900
4:1073659:CAGA:C	acceptor_gain	0.9900
4:1081620:C:CC	acceptor_gain	0.9900
4:1108341:A:AC	donor_gain	0.9900
4:1108342:C:CC	donor_gain	0.9900
4:1108342:CATG:C	donor_gain	0.9900
4:1113324:C:A	donor_gain	0.9900
4:1113386:G:A	donor_gain	0.9900
4:1073660:AGA:A	acceptor_gain	0.9800
4:1073661:GA:G	acceptor_gain	0.9800
4:1073669:A:C	acceptor_gain	0.9800
4:1081616:CATA:C	acceptor_gain	0.9800
4:1103802:TG:T	donor_gain	0.9800
4:1113416:T:TA	donor_gain	0.9800
4:1073658:TCAGA:T	acceptor_gain	0.9700
4:1073659:CAGAC:C	acceptor_gain	0.9700
4:1073660:AGAC:A	acceptor_loss	0.9700
4:1073661:GAC:G	acceptor_loss	0.9700
4:1073662:AC:A	acceptor_loss	0.9700
4:1073669:A:AC	acceptor_gain	0.9700
4:1085786:C:A	donor_gain	0.9700
4:1085956:T:A	acceptor_gain	0.9700
4:1096840:C:CC	acceptor_gain	0.9700
4:1113319:C:A	donor_gain	0.9700
4:1113360:G:A	donor_gain	0.9700
4:1073158:A:C	acceptor_gain	0.9600
4:1085955:C:A	acceptor_gain	0.9600

AlphaMissense

1940 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:1090827:A:C	F86L	0.996
4:1090827:A:T	F86L	0.996
4:1090829:A:G	F86L	0.996
4:1090828:A:G	F86S	0.987
4:1113446:A:G	C7R	0.986
4:1108390:A:G	C42R	0.985
4:1113445:C:T	C7Y	0.985
4:1113384:G:C	H27Q	0.984
4:1113384:G:T	H27Q	0.984
4:1113447:G:C	F6L	0.984
4:1113447:G:T	F6L	0.984
4:1113449:A:G	F6L	0.984
4:1113397:G:A	T23I	0.982
4:1108389:C:G	C42S	0.981
4:1108390:A:T	C42S	0.981
4:1113445:C:G	C7S	0.981
4:1113446:A:T	C7S	0.981
4:1090828:A:C	F86C	0.980
4:1113444:A:C	C7W	0.980
4:1096813:G:C	F66L	0.979
4:1096813:G:T	F66L	0.979
4:1096815:A:G	F66L	0.979
4:1113376:C:T	C30Y	0.979
4:1113441:A:C	N8K	0.979
4:1113441:A:T	N8K	0.979
4:1113377:A:G	C30R	0.978
4:1113437:A:G	C10R	0.978
4:1113392:A:G	C25R	0.977
4:1113405:G:C	F20L	0.977
4:1113405:G:T	F20L	0.977

dbSNP variants (sampled 300 via entrez): RS1000027076 (4:1073307 C>A,G), RS1000066136 (4:1086986 A>G,T), RS1000115845 (4:1055853 C>G,T), RS1000195178 (4:1082741 C>G,T), RS1000215562 (4:1115555 A>G), RS1000258526 (4:1115395 A>T), RS10003009 (4:1057061 G>A,C), RS1000372956 (4:1082611 C>A), RS1000504632 (4:1093685 C>G,T), RS1000540139 (4:1058244 G>A,T), RS1000549544 (4:1109645 G>A), RS1000609357 (4:1108801 C>G), RS1000620537 (4:1093912 T>A,C), RS1000662437 (4:1078417 G>A), RS1000689070 (4:1062980 T>A,G)

Disease associations

OMIM: gene MIM:612041 | disease phenotypes: MIM:619673, MIM:190685

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure 62	Limited	Autosomal recessive

Mondo (3): spermatogenic failure 62 (MONDO:0030508), breast ductal adenocarcinoma (MONDO:0005590), Down syndrome (MONDO:0008608)

Orphanet (1): Down syndrome (Orphanet:870)

HPO phenotypes

10 total (10 of 10 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000118	Phenotypic abnormality
HP:0000837	Increased circulating gonadotropin level
HP:0003251	Male infertility
HP:0008669	Abnormal spermatogenesis
HP:0008734	Decreased testicular size
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia
HP:0031039	Spermatocyte maturation arrest

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000148_1	Recombination rate (males)	3.000000e-24
GCST000149_1	Recombination rate (females)	2.000000e-12
GCST006979_321	Heel bone mineral density	2.000000e-24

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004863	recombination rate
EFO:0009270	heel bone mineral density

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D004314	Down Syndrome	C10.597.606.360.220; C16.131.077.327; C16.131.260.260; C16.320.180.260

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression	2
bufotalin	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
butyraldehyde	increases expression	1
zinc chromate	decreases expression, increases abundance	1
pentanal	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
entinostat	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Aldehydes	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Silicon Dioxide	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01112683	PHASE4	COMPLETED	Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome
NCT04219280	PHASE4	RECRUITING	Evaluating Treatment of ADHD in Children with Down Syndrome
NCT04747275	PHASE4	TERMINATED	Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients
NCT05458479	PHASE4	COMPLETED	Fluoxetine Treatment of Depression in Down Syndrome
NCT06911944	PHASE4	NOT_YET_RECRUITING	Amyloid Lowering for Alzheimer’s in Down’s With Donanemab Investigation
NCT07280468	PHASE4	RECRUITING	Endotype DIrected Treatment for OSA in Down Syndrome
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00056329	PHASE3	UNKNOWN	Vitamin E in Aging Persons With Down Syndrome
NCT00754013	PHASE3	TERMINATED	Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10
NCT00754052	PHASE3	TERMINATED	Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 11 To 17
NCT01190930	PHASE3	COMPLETED	Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma
NCT01576705	PHASE3	COMPLETED	Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children
NCT01594346	PHASE3	COMPLETED	Multicenter Vitamin E Trial in Aging Persons With Down Syndrome
NCT02521493	PHASE3	ACTIVE_NOT_RECRUITING	Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome
NCT03914625	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia
NCT04801771	PHASE3	ACTIVE_NOT_RECRUITING	Effects of Hypoglossal Nerve Stimulation on Cognition and Language in Down Syndrome and Obstructive Sleep Apnea
NCT05528549	PHASE3	COMPLETED	Blood Flow and Blood Pressure Investigation in Down Syndrome
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NCT03538925	PHASE2	COMPLETED	Building Sentences With Preschoolers Who Use AAC
NCT04115878	PHASE2	COMPLETED	Medications for Obstructive Sleep Apnea In Children With Down Syndrome