VPS9D1

Summary

VPS9D1 (VPS9 domain containing 1, HGNC:13526) is a protein-coding gene on chromosome 16q24.3, encoding VPS9 domain-containing protein 1 (Q9Y2B5).

Enables identical protein binding activity. Predicted to be involved in proton motive force-driven ATP synthesis. Predicted to be active in cytosol and endocytic vesicle.

Source: NCBI Gene 9605 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 156 total — 2 pathogenic
• MANE Select transcript: NM_004913

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13526
Approved symbol	VPS9D1
Name	VPS9 domain containing 1
Location	16q24.3
Locus type	gene with protein product
Status	Approved
Aliases	ATP-BL
Ensembl gene	ENSG00000075399
Ensembl biotype	protein_coding
OMIM	619292
Entrez	9605

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000389386, ENST00000561976, ENST00000563798, ENST00000565023, ENST00000565452, ENST00000567379, ENST00000568691, ENST00000906740, ENST00000906741, ENST00000906742, ENST00000906743, ENST00000906744, ENST00000906745, ENST00000962837, ENST00000962838, ENST00000962839

RefSeq mRNA: 1 — MANE Select: NM_004913 NM_004913

CCDS: CCDS42220

Canonical transcript exons

ENST00000389386 — 15 exons

Exon	Start	End
ENSE00000696732	89716462	89716624
ENSE00001505707	89707134	89707954
ENSE00001505716	89710586	89711010
ENSE00001505724	89719027	89719102
ENSE00001505725	89720763	89720898
ENSE00002491597	89709777	89709906
ENSE00002511071	89708857	89708956
ENSE00002512417	89709227	89709435
ENSE00002517968	89708427	89708531
ENSE00003481703	89712047	89712099
ENSE00003508443	89711327	89711412
ENSE00003560447	89711882	89711969
ENSE00003574880	89716730	89716822
ENSE00003628384	89712460	89712522
ENSE00003654519	89712605	89712716

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 94.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4400 / max 56.3906, expressed in 1699 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158647	4.9169	1613
158649	0.9237	512
158648	0.5043	265
158646	0.0950	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	94.36	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.28	gold quality
lower esophagus mucosa	UBERON:0035834	93.35	gold quality
cerebellar hemisphere	UBERON:0002245	93.14	gold quality
cerebellar cortex	UBERON:0002129	92.97	gold quality
adenohypophysis	UBERON:0002196	92.65	gold quality
granulocyte	CL:0000094	92.49	gold quality
apex of heart	UBERON:0002098	92.49	gold quality
anterior cingulate cortex	UBERON:0009835	92.17	gold quality
cingulate cortex	UBERON:0003027	92.11	gold quality
pituitary gland	UBERON:0000007	91.89	gold quality
cerebellum	UBERON:0002037	91.21	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.11	gold quality
metanephros cortex	UBERON:0010533	90.79	gold quality
endometrium epithelium	UBERON:0004811	90.72	silver quality
esophagus mucosa	UBERON:0002469	90.68	gold quality
left adrenal gland cortex	UBERON:0035825	90.20	gold quality
right lobe of liver	UBERON:0001114	90.01	gold quality
left adrenal gland	UBERON:0001234	89.96	gold quality
right adrenal gland	UBERON:0001233	89.87	gold quality
amygdala	UBERON:0001876	89.78	gold quality
prefrontal cortex	UBERON:0000451	89.75	gold quality
adrenal cortex	UBERON:0001235	89.42	gold quality
right adrenal gland cortex	UBERON:0035827	89.42	gold quality
nucleus accumbens	UBERON:0001882	89.29	gold quality
neocortex	UBERON:0001950	89.14	gold quality
frontal cortex	UBERON:0001870	88.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.84	gold quality
caudate nucleus	UBERON:0001873	87.86	gold quality
mucosa of transverse colon	UBERON:0004991	87.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting VPS9D1, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-504-5P	98.67	65.40	631
HSA-MIR-4725-5P	98.67	65.42	628
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-2467-5P	97.36	67.71	991

Literature-anchored findings (GeneRIF, showing 1)

• Vps9d1 regulates tubular endosome formation through specific activation of Rab22A. (PMID:36762583)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	vps9d1	ENSDARG00000019195
mus_musculus	Vps9d1	ENSMUSG00000001062
rattus_norvegicus	Vps9d1	ENSRNOG00000028904
drosophila_melanogaster	spri	FBGN0085443
drosophila_melanogaster	Rabex-5	FBGN0262937
caenorhabditis_elegans		WBGENE00008183
caenorhabditis_elegans		WBGENE00012644

Paralogs (6): RIN3 (ENSG00000100599), RIN2 (ENSG00000132669), RABGEF1 (ENSG00000154710), GAPVD1 (ENSG00000165219), RIN1 (ENSG00000174791), RINL (ENSG00000187994)

Protein

Protein identifiers

VPS9 domain-containing protein 1 — Q9Y2B5 (reviewed: Q9Y2B5)

Alternative names: Protein ATP-BL

All UniProt accessions (4): Q9Y2B5, H3BM58, H3BNK1, H3BQI2

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Ubiquitous.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2B5-1	1	yes
Q9Y2B5-2	2

RefSeq proteins (1): NP_004904* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003123	VPS9	Domain
IPR037191	VPS9_dom_sf	Homologous_superfamily
IPR045046	Vps9-like	Family

Pfam: PF02204

UniProt features (9 total): sequence conflict 2, chain 1, domain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2B5-F1	76.34	0.49

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 (1): 116

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOMF_GTPASE_BINDING, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, NIKOLSKY_BREAST_CANCER_16Q24_AMPLICON, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS

GO Biological Process (2): proton motive force-driven ATP synthesis (GO:0015986), vesicle-mediated transport (GO:0016192)

GO Molecular Function (5): guanyl-nucleotide exchange factor activity (GO:0005085), GTPase activator activity (GO:0005096), small GTPase binding (GO:0031267), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), endocytic vesicle (GO:0030139)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase regulator activity	2
ATP biosynthetic process	1
transport	1
cellular process	1
GTP binding	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
GTPase binding	1
protein binding	1
binding	1
cytoplasm	1
cellular anatomical structure	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

586 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VPS9D1	ZNF276	Q8N554	661
VPS9D1	DBNDD1	Q9H9R9	503
VPS9D1	DTX2	Q86UW9	500
VPS9D1	ASB3	Q9Y575	468
VPS9D1	PNO1	Q9NRX1	456
VPS9D1	OBSL1	O75147	447
VPS9D1	GAPVD1	Q14C86	446
VPS9D1	NFATC2IP	Q8NCF5	445
VPS9D1	ENSA	O43768	445
VPS9D1	DEF8	Q6ZN54	439
VPS9D1	CDHR3	Q6ZTQ4	430
VPS9D1	ARRDC3	Q96B67	427
VPS9D1	CHMP1A	Q9HD42	427
VPS9D1	POLR3A	O14802	425
VPS9D1	DND1	Q8IYX4	425

IntAct

95 interactions, top by confidence:

A	B	Type	Score
	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
RSPH14	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
AAMDC	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
TRIM54	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
KRT31	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
TRIM21	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
MKRN3	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
UBXN11	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
TTC23L	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
KRT35	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
VPS9D1	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
POU6F2	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
CCDC172	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
KRT39	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
SYT17	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
DYDC1	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
ATOSB	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
AKAP9	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
RAD51D	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
PSMD2	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
ZNF655	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
MAP1LC3A	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
PNMA1	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
AHSP	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
CCHCR1	VPS9D1	psi-mi:“MI:0915”(physical association)	0.560
VPS9D1	IST1	psi-mi:“MI:0915”(physical association)	0.560
VPS9D1		psi-mi:“MI:0915”(physical association)	0.370
Spast		psi-mi:“MI:0914”(association)	0.350

BioGRID (40): VPS9D1 (Affinity Capture-MS), VPS9D1 (Affinity Capture-MS), VPS9D1 (Affinity Capture-MS), VPS9D1 (Two-hybrid), VPS9D1 (Two-hybrid), AAMDC (Two-hybrid), KRT31 (Two-hybrid), RSPH14 (Two-hybrid), MAP1LC3A (Two-hybrid), SYT17 (Two-hybrid), POU6F2 (Two-hybrid), AKAP9 (Two-hybrid), TRIM21 (Two-hybrid), TRIM54 (Two-hybrid), UBXN11 (Two-hybrid)

ESM2 similar proteins: A0A0G2JXN2, A2AWP8, O88842, O95267, P29590, P52734, P98174, Q1LY10, Q29RM4, Q2TBA3, Q3TAA7, Q3U0J8, Q3UTZ3, Q496Y0, Q4VX76, Q568M3, Q58D15, Q5BIM1, Q5JSP0, Q5R5M3, Q5R5T1, Q5REJ9, Q5W0U4, Q68FF6, Q69Z89, Q69ZK0, Q6PFY8, Q7TNM2, Q7Z4K8, Q7Z5H3, Q7Z6J4, Q80V85, Q8BY35, Q8BZ52, Q8C190, Q8N1F8, Q8TCU6, Q8WVR3, Q96JH8, Q99N48

Diamond homologs: P97680, Q13671, Q8C190, Q921Q7, Q9Y2B5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	120
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3243247	NC_000016.9:g.(?89730828)(89858975_?)del	Pathogenic
3243280	NC_000016.9:g.(?89730828)(89877489_?)del	Pathogenic

SpliceAI

3534 predictions. Top by Δscore:

Variant	Effect	Δscore
16:89708425:ACC:A	donor_gain	1.0000
16:89708426:CCC:C	donor_gain	1.0000
16:89708855:A:AC	donor_gain	1.0000
16:89708856:C:CC	donor_gain	1.0000
16:89708856:CATGG:C	donor_gain	1.0000
16:89708952:CCGCA:C	acceptor_gain	1.0000
16:89708953:CGCA:C	acceptor_gain	1.0000
16:89708953:CGCAC:C	acceptor_gain	1.0000
16:89708955:CA:C	acceptor_gain	1.0000
16:89708957:C:CC	acceptor_gain	1.0000
16:89708965:C:T	acceptor_gain	1.0000
16:89709236:C:CA	donor_gain	1.0000
16:89710581:CTCA:C	donor_loss	1.0000
16:89710582:TCA:T	donor_loss	1.0000
16:89710583:CACC:C	donor_loss	1.0000
16:89710585:CCTA:C	donor_gain	1.0000
16:89710588:A:AC	donor_gain	1.0000
16:89710589:C:CC	donor_gain	1.0000
16:89710589:CGG:C	donor_gain	1.0000
16:89711850:T:TA	donor_gain	1.0000
16:89711858:AG:A	donor_gain	1.0000
16:89711880:A:AC	donor_gain	1.0000
16:89711881:C:CC	donor_gain	1.0000
16:89711882:ATGGT:A	donor_gain	1.0000
16:89711886:T:TA	donor_gain	1.0000
16:89711896:A:AC	donor_gain	1.0000
16:89711897:C:CC	donor_gain	1.0000
16:89711899:C:CA	donor_gain	1.0000
16:89711965:ACCTC:A	acceptor_gain	1.0000
16:89711966:CCTCC:C	acceptor_gain	1.0000

AlphaMissense

4010 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:89712506:C:G	R187P	0.998
16:89707925:A:G	L611P	0.997
16:89707932:A:G	Y609H	0.997
16:89709802:A:G	W455R	0.997
16:89709802:A:T	W455R	0.997
16:89712470:C:G	R199P	0.997
16:89712479:G:T	A196D	0.997
16:89712512:A:G	L185P	0.997
16:89707916:A:G	L614P	0.996
16:89708438:G:C	F597L	0.996
16:89708438:G:T	F597L	0.996
16:89708439:A:G	F597S	0.996
16:89708440:A:G	F597L	0.996
16:89708451:G:T	A593D	0.996
16:89708517:A:G	L571P	0.996
16:89707907:G:T	A617D	0.995
16:89707935:C:G	G608R	0.995
16:89708505:A:G	L575P	0.995
16:89709238:A:G	L529P	0.995
16:89712480:C:G	A196P	0.995
16:89712606:A:G	L181P	0.995
16:89712672:A:G	L159P	0.995
16:89712694:C:G	A152P	0.995
16:89719087:A:G	Y39H	0.995
16:89708448:A:G	L594P	0.994
16:89709229:A:T	I532K	0.994
16:89709900:A:G	L422P	0.994
16:89720803:G:T	A20D	0.994
16:89707909:A:C	S616R	0.993
16:89707909:A:T	S616R	0.993

dbSNP variants (sampled 300 via entrez): RS1000156031 (16:89722405 C>A,T), RS1000230947 (16:89722210 G>A), RS1000364012 (16:89718607 G>T), RS1000392219 (16:89709819 G>A,C,T), RS1000797349 (16:89718309 C>T), RS1000983927 (16:89712166 C>T), RS1001069197 (16:89716425 C>G,T), RS1001108776 (16:89706639 C>G,T), RS1001258318 (16:89708349 G>A), RS1001315633 (16:89710842 C>T), RS1001474085 (16:89713324 G>A,C,T), RS1001898814 (16:89721492 C>A,G), RS1001936739 (16:89717679 G>A,C,T), RS1002247889 (16:89708748 G>A,C), RS1002398255 (16:89712869 CCTT>C)

Disease associations

OMIM: gene MIM:619292 | disease phenotypes: MIM:227650

GenCC curated gene-disease

Mondo (1): Fanconi anemia (MONDO:0019391)

Orphanet (1): Fanconi anemia (Orphanet:84)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010703_280	Brain morphology (MOSTest)	2.000000e-15
GCST90002397_724	Mean spheric corpuscular volume	7.000000e-35
GCST90002401_573	Platelet distribution width	7.000000e-23

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
diallyl trisulfide	increases expression	1
2-palmitoylglycerol	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00001749	PHASE2	COMPLETED	Medical Treatment for Diamond Blackfan Anemia
NCT00004787	PHASE2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT00053989	PHASE2	COMPLETED	NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00084695	PHASE2	UNKNOWN	Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
NCT00258427	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
NCT00453388	PHASE2	COMPLETED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia
NCT01071239	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplant for Fanconi Anemia
NCT02143830	PHASE2	RECRUITING	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
NCT02931071	PHASE2	COMPLETED	Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
NCT03206086	PHASE2	ACTIVE_NOT_RECRUITING	Eltrombopag for People With Fanconi Anemia
NCT03398824	PHASE2	COMPLETED	Pilot Study of Metformin for Patients With Fanconi Anemia
NCT03476330	PHASE2	COMPLETED	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
NCT03579875	PHASE2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT03600909	PHASE2	TERMINATED	A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
NCT04232085	PHASE2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT06045052	PHASE2	COMPLETED	Eltrombopag for Treatment of Fanconi Anemia
NCT00001399	PHASE1	COMPLETED	Gene Therapy for the Treatment of Fanconi’s Anemia Type C
NCT00005896	PHASE1	UNKNOWN	Phase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia
NCT00006127	PHASE1	UNKNOWN	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
NCT00093743	PHASE1	COMPLETED	Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
NCT00243399	PHASE1	COMPLETED	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
NCT00272857	PHASE1	COMPLETED	Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
NCT00317876	PHASE1	COMPLETED	Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia
NCT00586274	PHASE1	TERMINATED	Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
NCT01331018	PHASE1	TERMINATED	Gene Therapy for Fanconi Anemia
NCT01720147	PHASE1	COMPLETED	Quercetin in Children With Fanconi Anemia; a Pilot Study
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00352976	PHASE2/PHASE3	COMPLETED	TBI Dose De-escalation for Fanconi Anemia
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00005898	PHASE1/PHASE2	COMPLETED	Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi’s Anemia
NCT00167206	PHASE1/PHASE2	TERMINATED	Stem Cell Transplantation for Fanconi Anemia
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT00479115	PHASE1/PHASE2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100
NCT00590460	PHASE1/PHASE2	TERMINATED	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia
NCT00630253	PHASE1/PHASE2	COMPLETED	Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia
NCT01001598	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT02678533	PHASE1/PHASE2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor