DORIP1
gene geneOn this page
Also known as DRIP-1DRIP1
Summary
DORIP1 (dopamine receptor interacting protein 1, HGNC:19834) is a protein-coding gene on chromosome 14q21.2, encoding Dopamine receptor-interacting protein 1 (Q4W4Y0). Could be a regulator of the dopamine receptor signaling pathway.
Predicted to act upstream of or within with a positive effect on NMDA selective glutamate receptor signaling pathway and cAMP-mediated signaling. Predicted to act upstream of or within several processes, including G protein-coupled dopamine receptor signaling pathway; memory; and neurogenesis.
Source: NCBI Gene 122525 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 16 total — 1 pathogenic
- MANE Select transcript:
NM_001017923
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19834 |
| Approved symbol | DORIP1 |
| Name | dopamine receptor interacting protein 1 |
| Location | 14q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DRIP-1, DRIP1 |
| Ensembl gene | ENSG00000179476 |
| Ensembl biotype | protein_coding |
| Entrez | 122525 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000325192, ENST00000553841, ENST00000555826, ENST00000557112, ENST00000866782, ENST00000866783, ENST00000866784
RefSeq mRNA: 1 — MANE Select: NM_001017923
NM_001017923
CCDS: CCDS32069
Canonical transcript exons
ENST00000325192 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001228396 | 44905367 | 44907257 |
| ENSE00001228402 | 44900435 | 44900959 |
| ENSE00001491370 | 44897275 | 44897568 |
| ENSE00003495940 | 44903207 | 44903296 |
| ENSE00003501409 | 44904395 | 44904529 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 94.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4334 / max 144.9108, expressed in 1702 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139402 | 4.0316 | 1595 |
| 139403 | 2.4018 | 1201 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 94.30 | gold quality |
| secondary oocyte | CL:0000655 | 91.30 | gold quality |
| pancreatic ductal cell | CL:0002079 | 90.99 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.90 | silver quality |
| epithelial cell of pancreas | CL:0000083 | 85.16 | gold quality |
| cauda epididymis | UBERON:0004360 | 83.95 | gold quality |
| caput epididymis | UBERON:0004358 | 83.11 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.87 | gold quality |
| myometrium | UBERON:0001296 | 82.70 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.64 | gold quality |
| body of uterus | UBERON:0009853 | 82.36 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.29 | gold quality |
| oocyte | CL:0000023 | 82.25 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.24 | gold quality |
| popliteal artery | UBERON:0002250 | 81.94 | gold quality |
| tibial artery | UBERON:0007610 | 81.93 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 81.22 | gold quality |
| corpus epididymis | UBERON:0004359 | 81.12 | gold quality |
| aorta | UBERON:0000947 | 80.82 | gold quality |
| endothelial cell | CL:0000115 | 80.64 | gold quality |
| left coronary artery | UBERON:0001626 | 80.64 | gold quality |
| mammary duct | UBERON:0001765 | 80.29 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 80.24 | gold quality |
| saphenous vein | UBERON:0007318 | 80.24 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 80.19 | gold quality |
| lower esophagus | UBERON:0013473 | 80.17 | gold quality |
| coronary artery | UBERON:0001621 | 80.14 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 79.91 | gold quality |
| upper arm skin | UBERON:0004263 | 79.82 | gold quality |
| right coronary artery | UBERON:0001625 | 79.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
153 targeting DORIP1, 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-340-5P | 100.00 | 72.50 | 4437 |
| 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
Literature-anchored findings (GeneRIF, showing 1)
- our data suggest: (i) C14ORF28, GNB2L1, MLLT3, DRD2 and DARPP-32 are important in the pathogenesis of schizophrenia and bipolar disorder (PMID:20874815)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | DORIP1 | ENSDARG00000102021 |
| mus_musculus | Gm527 | ENSMUSG00000047227 |
| rattus_norvegicus | C6h14orf28 | ENSRNOG00000023230 |
Protein
Protein identifiers
Dopamine receptor-interacting protein 1 — Q4W4Y0 (reviewed: Q4W4Y0)
All UniProt accessions (2): Q4W4Y0, G3V4G8
UniProt curated annotations — full annotation on UniProt →
Function. Could be a regulator of the dopamine receptor signaling pathway.
Subunit / interactions. Interacts with DRD1.
RefSeq proteins (1): NP_001017923* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR040029 | C14orf28-like | Family |
UniProt features (1 total): chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4W4Y0-F1 | 83.15 | 0.33 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 134 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, ACTACCT_MIR196A_MIR196B, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, BASAKI_YBX1_TARGETS_DN, ACTTTAT_MIR1425P, CTTTGTA_MIR524, GOBP_G_PROTEIN_COUPLED_DOPAMINE_RECEPTOR_SIGNALING_PATHWAY, SENESE_HDAC3_TARGETS_DN, GOBP_GLUTAMATE_RECEPTOR_SIGNALING_PATHWAY, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, LIU_PROSTATE_CANCER_DN
GO Biological Process (6): G protein-coupled dopamine receptor signaling pathway (GO:0007212), memory (GO:0007613), gene expression (GO:0010467), obsolete cAMP-mediated signaling (GO:0019933), neurogenesis (GO:0022008), NMDA selective glutamate receptor signaling pathway (GO:0098989)
GO Molecular Function (0):
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synaptic transmission, dopaminergic | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| cellular response to dopamine | 1 |
| learning or memory | 1 |
| macromolecule biosynthetic process | 1 |
| nervous system development | 1 |
| cell differentiation | 1 |
| NMDA glutamate receptor activity | 1 |
| ionotropic glutamate receptor signaling pathway | 1 |
Protein interactions and networks
STRING
200 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DORIP1 | KLHL28 | Q9NXS3 | 642 |
| DORIP1 | DOCK10 | Q96BY6 | 597 |
| DORIP1 | TOGARAM1 | Q9Y4F4 | 446 |
| DORIP1 | PRPF39 | Q86UA1 | 418 |
| DORIP1 | FIGNL2 | A6NMB9 | 402 |
| DORIP1 | BSDC1 | Q9NW68 | 390 |
| DORIP1 | ICE1 | Q9Y2F5 | 371 |
| DORIP1 | EIF4H | Q15056 | 364 |
| DORIP1 | SFT2D1 | Q8WV19 | 356 |
| DORIP1 | FKBP3 | Q00688 | 349 |
| DORIP1 | DTNA | Q9Y4J8 | 345 |
| DORIP1 | ANKDD1A | Q495B1 | 324 |
| DORIP1 | SMIM28 | A0A1B0GU29 | 305 |
| DORIP1 | PEX2 | P28328 | 305 |
| DORIP1 | MTCL1 | Q9Y4B5 | 265 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A1ZAW0, A8WS92, A8WZU5, B0JZ65, O60152, O62301, O94536, P16320, P24271, P34601, P34607, P87231, P90740, P91133, Q04149, Q04638, Q09884, Q16YA8, Q19546, Q196T9, Q1EHT7, Q21988, Q23243, Q23541, Q2KIN3, Q3SWY8, Q3T9Z9, Q45EK7, Q4KL13, Q4R4A2, Q4W4Y0, Q5EA92, Q5U2S3, Q6FYA6, Q6GM71, Q7M3K2, Q7YTB0, Q8N8R7, Q8WT44, Q91829
Diamond homologs: Q2KIN3, Q4KL13, Q4W4Y0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
16 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 1 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2426634 | NC_000014.8:g.(?44820816)(45645917_?)del | Pathogenic |
SpliceAI
876 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:44897564:GGGAG:G | donor_gain | 1.0000 |
| 14:44897565:GGAGG:G | donor_gain | 1.0000 |
| 14:44897566:G:T | donor_gain | 1.0000 |
| 14:44903203:ATAGT:A | acceptor_loss | 1.0000 |
| 14:44903204:TA:T | acceptor_loss | 1.0000 |
| 14:44903205:A:AG | acceptor_gain | 1.0000 |
| 14:44903206:G:GG | acceptor_gain | 1.0000 |
| 14:44903206:GT:G | acceptor_gain | 1.0000 |
| 14:44903206:GTC:G | acceptor_gain | 1.0000 |
| 14:44903206:GTCC:G | acceptor_gain | 1.0000 |
| 14:44903206:GTCCT:G | acceptor_gain | 1.0000 |
| 14:44903294:TGG:T | donor_gain | 1.0000 |
| 14:44903295:GG:G | donor_gain | 1.0000 |
| 14:44903295:GGG:G | donor_gain | 1.0000 |
| 14:44903296:GG:G | donor_gain | 1.0000 |
| 14:44903297:G:GG | donor_gain | 1.0000 |
| 14:44904388:A:AG | acceptor_gain | 1.0000 |
| 14:44904389:TTTTA:T | acceptor_loss | 1.0000 |
| 14:44904391:TTAG:T | acceptor_loss | 1.0000 |
| 14:44904392:TAGGT:T | acceptor_loss | 1.0000 |
| 14:44904393:A:AG | acceptor_gain | 1.0000 |
| 14:44904393:AG:A | acceptor_gain | 1.0000 |
| 14:44904393:AGGT:A | acceptor_gain | 1.0000 |
| 14:44904394:G:GG | acceptor_gain | 1.0000 |
| 14:44904394:GG:G | acceptor_gain | 1.0000 |
| 14:44904394:GGT:G | acceptor_gain | 1.0000 |
| 14:44904394:GGTG:G | acceptor_gain | 1.0000 |
| 14:44904394:GGTGT:G | acceptor_gain | 1.0000 |
| 14:44904491:GGC:G | donor_gain | 1.0000 |
| 14:44904492:GC:G | donor_gain | 1.0000 |
AlphaMissense
2054 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:44904454:T:A | V225D | 0.993 |
| 14:44905425:T:C | F270L | 0.993 |
| 14:44905427:C:A | F270L | 0.993 |
| 14:44905427:C:G | F270L | 0.993 |
| 14:44900757:T:A | W108R | 0.992 |
| 14:44900757:T:C | W108R | 0.992 |
| 14:44900863:T:C | L143P | 0.992 |
| 14:44905443:T:A | W276R | 0.992 |
| 14:44905443:T:C | W276R | 0.992 |
| 14:44900850:T:C | F139L | 0.990 |
| 14:44900852:T:A | F139L | 0.990 |
| 14:44900852:T:G | F139L | 0.990 |
| 14:44905426:T:C | F270S | 0.990 |
| 14:44900619:T:C | F62L | 0.989 |
| 14:44900621:C:A | F62L | 0.989 |
| 14:44900621:C:G | F62L | 0.989 |
| 14:44904460:T:C | L227S | 0.988 |
| 14:44900829:T:C | F132L | 0.987 |
| 14:44900831:T:A | F132L | 0.987 |
| 14:44900831:T:G | F132L | 0.987 |
| 14:44900913:T:C | C160R | 0.986 |
| 14:44900900:T:G | C155W | 0.985 |
| 14:44900614:A:T | D60V | 0.984 |
| 14:44904429:T:C | F217L | 0.984 |
| 14:44904431:C:A | F217L | 0.984 |
| 14:44904431:C:G | F217L | 0.984 |
| 14:44904451:T:C | F224S | 0.984 |
| 14:44904474:T:A | W232R | 0.984 |
| 14:44904474:T:C | W232R | 0.984 |
| 14:44905383:G:C | A256P | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000012068 (14:44898402 A>G), RS1000308755 (14:44904253 C>A,T), RS1000340555 (14:44906074 T>G), RS1000374803 (14:44905740 T>A), RS1000914335 (14:44902820 G>A,C), RS1001016554 (14:44897444 A>G), RS1001049279 (14:44897286 C>G,T), RS1001347005 (14:44902600 G>A), RS1001767926 (14:44907593 G>A,C,T), RS1001949645 (14:44901169 G>A), RS1002025464 (14:44896335 T>C), RS1002739667 (14:44906186 C>T), RS1003168578 (14:44898102 C>G,T), RS1003749839 (14:44904735 T>C,G), RS1003779412 (14:44904320 T>C)
Disease associations
OMIM: gene `` | 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
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004104_1 | Body mass index (change over time) in lung cancer | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005937 | longitudinal BMI measurement |
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
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| GW 1929 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Copper | affects binding, increases expression | 1 |
| Demecolcine | increases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Oxygen | increases expression | 1 |
| Potassium Chloride | decreases expression, decreases response to substance | 1 |
| Quercetin | decreases expression | 1 |
| Smoke | 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 |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Fanconi anemia