THSD1
geneOn this page
Also known as TMTSP
Summary
THSD1 (thrombospondin type 1 domain containing 1, HGNC:17754) is a protein-coding gene on chromosome 13q14.3, encoding Thrombospondin type-1 domain-containing protein 1 (Q9NS62). Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.
The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene.
Source: NCBI Gene 55901 — RefSeq curated summary.
At a glance
- Gene–disease (curated): non-immune hydrops fetalis (Definitive, GenCC) — +4 more curated relationships
- Clinical variants (ClinVar): 145 total — 3 pathogenic, 2 likely-pathogenic
- Phenotypes (HPO): 48
- MANE Select transcript:
NM_018676
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17754 |
| Approved symbol | THSD1 |
| Name | thrombospondin type 1 domain containing 1 |
| Location | 13q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TMTSP |
| Ensembl gene | ENSG00000136114 |
| Ensembl biotype | protein_coding |
| OMIM | 616821 |
| Entrez | 55901 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000258613, ENST00000349258, ENST00000648254, ENST00000876238, ENST00000876239, ENST00000876240, ENST00000876241, ENST00000876242, ENST00000945423, ENST00000945424
RefSeq mRNA: 2 — MANE Select: NM_018676
NM_018676, NM_199263
CCDS: CCDS9432, CCDS9433
Canonical transcript exons
ENST00000258613 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000923562 | 52377167 | 52378789 |
| ENSE00000923563 | 52397232 | 52398194 |
| ENSE00001388810 | 52402543 | 52402681 |
| ENSE00001953653 | 52406031 | 52406172 |
| ENSE00003669727 | 52386028 | 52386186 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 82.82.
FANTOM5 (CAGE): breadth broad, TPM avg 2.2826 / max 29.8089, expressed in 759 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137418 | 1.2325 | 518 |
| 137419 | 1.0501 | 569 |
Top tissues by expression
140 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 82.82 | gold quality |
| right lung | UBERON:0002167 | 82.77 | gold quality |
| apex of heart | UBERON:0002098 | 82.06 | gold quality |
| lung | UBERON:0002048 | 81.52 | gold quality |
| placenta | UBERON:0001987 | 81.38 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 81.28 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.64 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 78.98 | gold quality |
| temporal lobe | UBERON:0001871 | 77.87 | gold quality |
| amygdala | UBERON:0001876 | 77.85 | gold quality |
| heart left ventricle | UBERON:0002084 | 77.57 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 77.41 | gold quality |
| adipose tissue | UBERON:0001013 | 77.09 | gold quality |
| caudate nucleus | UBERON:0001873 | 76.39 | gold quality |
| heart | UBERON:0000948 | 75.64 | gold quality |
| skin of leg | UBERON:0001511 | 75.51 | gold quality |
| tibial nerve | UBERON:0001323 | 75.49 | gold quality |
| embryo | UBERON:0000922 | 75.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.48 | gold quality |
| zone of skin | UBERON:0000014 | 75.17 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 75.10 | gold quality |
| myometrium | UBERON:0001296 | 75.10 | gold quality |
| putamen | UBERON:0001874 | 74.98 | gold quality |
| left uterine tube | UBERON:0001303 | 74.90 | gold quality |
| omental fat pad | UBERON:0010414 | 74.90 | gold quality |
| skin of abdomen | UBERON:0001416 | 74.88 | gold quality |
| muscle of leg | UBERON:0001383 | 74.60 | gold quality |
| gastrocnemius | UBERON:0001388 | 74.55 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 74.51 | gold quality |
| body of uterus | UBERON:0009853 | 74.28 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.75 |
| E-MTAB-6678 | no | 3.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
10 targeting THSD1, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-1283 | 99.69 | 72.42 | 3009 |
| HSA-MIR-5689 | 99.50 | 71.26 | 1154 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
Literature-anchored findings (GeneRIF, showing 10)
- Thrombospondin has a role in inducing RhoA inactivation through FAK-dependent signaling to stimulate focal adhesion disassembly (PMID:15371459)
- The strong immunolocalization of thrombospondin (TSP) in the outer anulus of the intervertebral disc indicates a role for TSP in the avascular status of the adult human disc. (PMID:17047544)
- These findings suggest that THSD1 is a good candidate tumor suppressor gene. (PMID:18403638)
- The THSD1 gene may play a role in the tumorigenesis of colorectal cancer (PMID:22664866)
- thrombospondin type I domain 1 is a new regulator of endothelial barrier function during vascular development and protects intraplaque microvessels against haemorrhaging in advanced atherosclerotic lesions (PMID:26822228)
- THSD1 mutation associated with Intracranial Aneurysm and Subarachnoid Hemorrhage. (PMID:27895300)
- THSD1 forms a multimeric protein complex with FAK/talin/vinculin, wherein THSD1 promotes talin binding to FAK but not to vinculin, a key step in nascent adhesion assembly. (PMID:29069646)
- we report the novel truncating THSD1 variant, and describe new clinical features that have not been reported previously thus expanding the phenotype associate with loss-of-function mutations in THSD1 causing NIHF. (PMID:30055085)
- Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis. (PMID:33569873)
- THSD1 Suppresses Autophagy-Mediated Focal Adhesion Turnover by Modulating the FAK-Beclin 1 Pathway. (PMID:38396816)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | thsd1 | ENSDARG00000075273 |
| danio_rerio | ENSDARG00000112294 | |
| mus_musculus | Thsd1 | ENSMUSG00000031480 |
| rattus_norvegicus | Thsd1 | ENSRNOG00000012108 |
Protein
Protein identifiers
Thrombospondin type-1 domain-containing protein 1 — Q9NS62 (reviewed: Q9NS62)
Alternative names: Transmembrane molecule with thrombospondin module
All UniProt accessions (1): Q9NS62
UniProt curated annotations — full annotation on UniProt →
Function. Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.
Subunit / interactions. Part of a complex composed of THSD1, PTK2/FAK1, TLN1 and VCL. Interacts with TLN1.
Subcellular location. Endosome membrane. Cell junction. Focal adhesion Membrane Secreted.
Disease relevance. Lymphatic malformation 13 (LMPHM13) [MIM:620244] A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects. The disease is caused by variants affecting the gene represented in this entry. Aneurysm, intracranial berry, 12 (ANIB12) [MIM:618734] A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NS62-1 | 1 | yes |
| Q9NS62-2 | 2 | |
| Q9NS62-3 | 3 |
RefSeq proteins (2): NP_061146, NP_954872 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000884 | TSP1_rpt | Repeat |
| IPR036383 | TSP1_rpt_sf | Homologous_superfamily |
| IPR038877 | THSD1 | Family |
| IPR056217 | THSD1_N | Domain |
| IPR056218 | THSD1_D2 | Domain |
| IPR056219 | THSD1_D3 | Domain |
Pfam: PF00090, PF24306, PF24310, PF24311
UniProt features (43 total): sequence variant 15, glycosylation site 7, compositionally biased region 6, disulfide bond 3, splice variant 3, topological domain 2, region of interest 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS62-F1 | 59.46 | 0.14 |
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): 463
Disulfide bonds (3): 352–387, 356–392, 367–377
Glycosylation sites (7): 39, 53, 58, 69, 80, 135, 304
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-5083635 | Defective B3GALTL causes PpS |
| R-HSA-5173214 | O-glycosylation of TSR domain-containing proteins |
| R-HSA-1643685 | Disease |
| R-HSA-3781865 | Diseases of glycosylation |
| R-HSA-3906995 | Diseases associated with O-glycosylation of proteins |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5173105 | O-linked glycosylation |
| R-HSA-5668914 | Diseases of metabolism |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 190 (showing top):
GOBP_FOCAL_ADHESION_ASSEMBLY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_CELL_JUNCTION_ORGANIZATION, MODULE_544, GOBP_CELL_JUNCTION_ASSEMBLY, LEF1_Q6, GOBP_CELL_SUBSTRATE_ADHESION, GOBP_CELL_MATRIX_ADHESION, chr13q14, GOCC_ANCHORING_JUNCTION, CHEN_HOXA5_TARGETS_9HR_UP, GOMF_EXTRACELLULAR_MATRIX_BINDING
GO Biological Process (1): focal adhesion assembly (GO:0048041)
GO Molecular Function (2): extracellular matrix binding (GO:0050840), protein binding (GO:0005515)
GO Cellular Component (9): extracellular region (GO:0005576), endosome (GO:0005768), cytosol (GO:0005829), focal adhesion (GO:0005925), endosome membrane (GO:0010008), cell periphery (GO:0071944), cytoplasm (GO:0005737), membrane (GO:0016020), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Diseases associated with O-glycosylation of proteins | 1 |
| O-linked glycosylation | 1 |
| Diseases of metabolism | 1 |
| Diseases of glycosylation | 1 |
| Post-translational protein modification | 1 |
| Disease | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| binding | 2 |
| cell-substrate junction assembly | 1 |
| cell-matrix adhesion | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cytoplasm | 1 |
| cell-substrate junction | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| intracellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
460 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| THSD1 | ITGA9 | Q13797 | 534 |
| THSD1 | TLN2 | Q9Y4G6 | 529 |
| THSD1 | TLN1 | Q9Y490 | 526 |
| THSD1 | ANKRD35 | Q8N283 | 515 |
| THSD1 | DNAH9 | Q9NYC9 | 479 |
| THSD1 | PTCRA | Q6ISU1 | 449 |
| THSD1 | Q6NXN5 | Q6NXN5 | 446 |
| THSD1 | ARHGEF17 | Q96PE2 | 442 |
| THSD1 | ADAMTS15 | Q8TE58 | 431 |
| THSD1 | TRIQK | Q629K1 | 425 |
| THSD1 | RNF213 | Q63HN8 | 408 |
| THSD1 | VWCE | Q96DN2 | 394 |
| THSD1 | IL10 | P22301 | 374 |
| THSD1 | OR5T1 | Q8NG75 | 368 |
| THSD1 | MORN2 | Q502X0 | 350 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KCNJ2 | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| flaF | THSD1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS), THSD1 (Proximity Label-MS)
ESM2 similar proteins: A0A0A6YXX9, A0A1Z2R986, B8RJM0, E9Q555, E9Q612, G5E8Q8, O35664, O88393, P09258, P0DP43, P13374, P20746, P22596, P22650, P22651, P26342, P33500, P35054, P48749, P68325, Q03167, Q14CH0, Q16827, Q2TAV2, Q2YDM0, Q56A20, Q5BKX0, Q5R7R7, Q5RBQ2, Q5U228, Q68FB2, Q6NU22, Q6NU51, Q6P995, Q6S6Q5, Q6UC88, Q76B58, Q77NN4, Q7SXB3, Q8K1M8
Diamond homologs: A2VEC9, B3EWY9, B3EWZ3, B3EWZ8, C0HL12, C5IAW9, D3YXF5, D3YXG0, D3Z7H8, D3ZTD8, E9Q6D8, F1LW30, G1FC92, G5ECS8, O08721, O08722, O08747, O14514, O15072, O60241, O60242, O95185, O95450, P07358, P07996, P10643, P11680, P13671, P27918, P35440, P35441, P35442, P35448, P48960, P55314, P57110, P58397, P59384, P61134, P61135
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
145 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 2 |
| Uncertain significance | 99 |
| Likely benign | 21 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2443746 | NM_018676.4(THSD1):c.1322_1329del (p.Arg441fs) | Pathogenic |
| 2498195 | NM_018676.4(THSD1):c.892G>T (p.Glu298Ter) | Pathogenic |
| 804297 | NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) | Pathogenic |
| 190456 | NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) | Likely pathogenic |
| 2443745 | NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter) | Likely pathogenic |
SpliceAI
868 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:52378790:C:CC | acceptor_gain | 1.0000 |
| 13:52406025:TCTTA:T | donor_loss | 1.0000 |
| 13:52406026:CTTAC:C | donor_loss | 1.0000 |
| 13:52406027:TTA:T | donor_loss | 1.0000 |
| 13:52406028:TA:T | donor_loss | 1.0000 |
| 13:52406030:C:CT | donor_loss | 1.0000 |
| 13:52416091:AAC:A | acceptor_gain | 1.0000 |
| 13:52416092:AC:A | acceptor_gain | 1.0000 |
| 13:52416093:CC:C | acceptor_gain | 1.0000 |
| 13:52416094:C:CC | acceptor_gain | 1.0000 |
| 13:52416094:C:T | acceptor_gain | 1.0000 |
| 13:52416104:C:CT | acceptor_gain | 1.0000 |
| 13:52378785:GAAAG:G | acceptor_gain | 0.9900 |
| 13:52378786:AAAG:A | acceptor_gain | 0.9900 |
| 13:52378787:AAG:A | acceptor_gain | 0.9900 |
| 13:52378787:AAGCT:A | acceptor_loss | 0.9900 |
| 13:52378788:AG:A | acceptor_gain | 0.9900 |
| 13:52378788:AGCTG:A | acceptor_loss | 0.9900 |
| 13:52378790:C:A | acceptor_loss | 0.9900 |
| 13:52378791:T:C | acceptor_loss | 0.9900 |
| 13:52398195:C:CC | acceptor_gain | 0.9900 |
| 13:52406029:A:AC | donor_gain | 0.9900 |
| 13:52406030:C:CC | donor_gain | 0.9900 |
| 13:52406030:CCTTT:C | donor_gain | 0.9900 |
| 13:52416013:TTA:T | donor_loss | 0.9900 |
| 13:52416014:TACCT:T | donor_loss | 0.9900 |
| 13:52416015:A:AC | donor_gain | 0.9900 |
| 13:52416015:A:AG | donor_loss | 0.9900 |
| 13:52416016:C:CA | donor_loss | 0.9900 |
| 13:52416016:C:CC | donor_gain | 0.9900 |
AlphaMissense
5596 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:52378703:A:G | C423R | 0.998 |
| 13:52386161:C:A | W349C | 0.998 |
| 13:52386161:C:G | W349C | 0.998 |
| 13:52386170:C:A | W346C | 0.998 |
| 13:52386170:C:G | W346C | 0.998 |
| 13:52378360:A:G | L537S | 0.996 |
| 13:52378351:A:G | M540T | 0.995 |
| 13:52378372:G:T | A533D | 0.995 |
| 13:52397330:A:C | F308C | 0.995 |
| 13:52386120:C:G | R363P | 0.993 |
| 13:52386048:C:G | C387S | 0.992 |
| 13:52386049:A:T | C387S | 0.992 |
| 13:52386153:C:G | C352S | 0.992 |
| 13:52386154:A:T | C352S | 0.992 |
| 13:52386163:A:G | W349R | 0.992 |
| 13:52386163:A:T | W349R | 0.992 |
| 13:52378350:C:A | M540I | 0.991 |
| 13:52378350:C:G | M540I | 0.991 |
| 13:52378350:C:T | M540I | 0.991 |
| 13:52386172:A:G | W346R | 0.991 |
| 13:52386172:A:T | W346R | 0.991 |
| 13:52378005:A:C | S655R | 0.990 |
| 13:52378005:A:T | S655R | 0.990 |
| 13:52378007:T:G | S655R | 0.990 |
| 13:52378386:G:C | F528L | 0.990 |
| 13:52378386:G:T | F528L | 0.990 |
| 13:52378388:A:G | F528L | 0.990 |
| 13:52386154:A:G | C352R | 0.990 |
| 13:52397330:A:G | F308S | 0.990 |
| 13:52386047:A:C | C387W | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000042229 (13:52381997 T>G), RS1000145550 (13:52401733 T>A), RS1000182045 (13:52402000 A>C), RS1000235792 (13:52397836 C>T), RS1000241833 (13:52384133 G>A,T), RS1000343155 (13:52380131 C>T), RS1000393417 (13:52391118 G>C,T), RS1000408516 (13:52394770 C>T), RS1000409012 (13:52383846 G>A), RS1000438882 (13:52387156 C>T), RS1000470025 (13:52387503 G>A,T), RS1000653961 (13:52398331 C>A,G,T), RS1000698104 (13:52394468 G>T), RS1000768580 (13:52404679 C>T), RS1001046347 (13:52390155 G>A,T)
Disease associations
OMIM: gene MIM:616821 | disease phenotypes: MIM:620244, MIM:236750, MIM:618734
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| non-immune hydrops fetalis | Definitive | Autosomal recessive |
| aneurysm, intracranial berry, 12 | Strong | Autosomal dominant |
| lymphatic malformation 13 | Strong | Autosomal recessive |
| intracranial berry aneurysm | Supportive | Autosomal dominant |
| multiple congenital anomalies/dysmorphic syndrome | Limited | Autosomal recessive |
Mondo (7): aortic aneurysm (MONDO:0005160), vascular dementia (MONDO:0004648), lymphatic malformation 13 (MONDO:0859379), non-immune hydrops fetalis (MONDO:0009369), aneurysm, intracranial berry, 12 (MONDO:0032891), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042), intracranial berry aneurysm (MONDO:0016483)
Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)
HPO phenotypes
48 total (30 of 48 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000034 | Hydrocele testis |
| HP:0000280 | Coarse facial features |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000822 | Hypertension |
| HP:0001004 | Lymphedema |
| HP:0001028 | Hemangioma |
| HP:0001048 | Cavernous hemangioma |
| HP:0001123 | Visual field defect |
| HP:0001195 | Single umbilical artery |
| HP:0001250 | Seizure |
| HP:0001269 | Hemiparesis |
| HP:0001541 | Ascites |
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001653 | Mitral regurgitation |
| HP:0001655 | Patent foramen ovale |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0002170 | Intracranial hemorrhage |
| HP:0002326 | Transient ischemic attack |
| HP:0002363 | Abnormal brainstem morphology |
| HP:0002616 | Aortic root aneurysm |
| HP:0002621 | Atherosclerosis |
| HP:0002647 | Aortic dissection |
| HP:0003584 | Late onset |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001014 | Aortic Aneurysm | C14.907.055.239; C14.907.109.139 |
| D015140 | Dementia, Vascular | C10.228.140.300.400; C10.228.140.300.510.800.500; C10.228.140.380.230; C10.228.140.695.500; C14.907.137.126.372.500; C14.907.253.560.350.500; F03.615.400.350 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, affects methylation, decreases methylation | 2 |
| methyleugenol | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| quercitrin | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Camptothecin | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Vanadates | increases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Gold Compounds | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| S-Nitrosoglutathione | decreases expression | 1 |
Clinical trials (associated diseases)
239 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00094575 | PHASE4 | COMPLETED | Standard Open Surgery Versus Endovascular Repair of Abdominal Aortic Aneurysm (AAA) |
| NCT01033370 | PHASE4 | TERMINATED | A Safety and Efficacy Study of Blood Pressure Control in Acute Aortic Emergencies - A Pilot Study (PROMPT) |
| NCT01107366 | PHASE4 | WITHDRAWN | ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNique |
| NCT01354119 | PHASE4 | TERMINATED | Long-term Benefit of Aortic Stent-graft in Patients With Distal Aortic Dissection |
| NCT00165763 | PHASE4 | COMPLETED | Efficacy and Safety of Donepezil Hydrochloride (Aricept) in Vascular Dementia |
| NCT00847860 | PHASE4 | COMPLETED | Cilostazol Verse Asprin for Vascular Dementia in Poststroke Patients With White Matter Lesions |
| NCT00947531 | PHASE4 | COMPLETED | A Clinical Trial to Evaluate the Safety and Efficacy of 20 ml Cerebrolysin in Patients With Vascular Dementia |
| NCT00950430 | PHASE4 | ENROLLING_BY_INVITATION | Imaging of Brain Amyloid Plaques in the Aging Population |
| NCT00478803 | PHASE3 | COMPLETED | Conservative Aortic Valve Surgery for Aortic Insufficiency and Aneurysms of the Aortic Root. CAVIAAR |
| NCT00671203 | PHASE3 | COMPLETED | Prevention of Colon Ischemia During Aortic Aneurysm (AAA) Repair |
| NCT05744219 | PHASE3 | RECRUITING | Improved Recovery by Iron Following Surgery With Blood Loss, the IRIS-trial |
| NCT00099216 | PHASE3 | COMPLETED | Efficacy and Safety of Rivastigmine Capsules in Patients With Probable Vascular Dementia |
| NCT00130338 | PHASE3 | COMPLETED | Rivastigmine Capsules in Patients With Probable Vascular Dementia |
| NCT00209456 | PHASE3 | COMPLETED | Dopamine Transporter Scintigraphy Imaging (DAT-Imaging) in Patients With Lewy Body Dementia |
| NCT00249158 | PHASE3 | COMPLETED | A Study of the Effectiveness and Safety of Risperidone in the Treatment of Behavioral Disturbances in Patients With Dementia |
| NCT00261573 | PHASE3 | COMPLETED | A Study of the Safety and Effectiveness of Galantamine Versus Placebo in the Treatment of Patients With Vascular Dementia or Mixed Dementia |
| NCT00621647 | PHASE3 | COMPLETED | Seroquel- Agitation Associated With Dementia |
| NCT02453932 | PHASE3 | COMPLETED | Efficacy and Safety of Tianzhi Granule in Mild to Moderate Vascular Dementia |
| NCT03682185 | PHASE3 | COMPLETED | The Healthy Patterns Sleep Study |
| NCT03789760 | PHASE3 | COMPLETED | The Clinical Trial of Chinese Herbal Medicine (SaiLuoTong) Capsule |
| NCT03804229 | PHASE3 | ACTIVE_NOT_RECRUITING | Efficacy and Safety of Butylphthalide Soft Capsule for the Treatment of Vascular Dementia |
| NCT03986424 | PHASE3 | COMPLETED | Local Study of Akatinol Memantine in VaD in Russia |
| NCT04552041 | PHASE3 | COMPLETED | Prospekta in the Treatment of Cognitive, Behavioral and Psychiatric Disorders in Patients With Vascular Dementia. |
| NCT00549354 | PHASE2 | UNKNOWN | Abdominal Aortic/Aorto-Iliac Aneurysm Endoluminal Graft Study |
| NCT00701142 | PHASE2 | COMPLETED | Haemocomplettan® P During Aortic Replacement |
| NCT01256372 | PHASE2 | COMPLETED | An Trial of Two Dosing Regimens of AP214 for the Prevention of Kidney Injury in Patients Undergoing Cardiac Surgery |
| NCT05350683 | PHASE2 | COMPLETED | Effect of Remote Ischemic Preconditioning on the Incidence of Contrast Induced Nephropathy in Patients Undergoing EVAR |
| NCT01466543 | PHASE2 | UNKNOWN | Effect of Zydena (Udenafil) on Cerebral Blood Flow and Peripheral Blood Viscosity |
| NCT01475578 | PHASE2 | COMPLETED | Study of STA-1 Capsule in Patients With Vascular Dementia (Marrow-Sea Deficiency) |
| NCT01608217 | PHASE2 | COMPLETED | Delta-THC in Dementia |
| NCT01761227 | PHASE2 | COMPLETED | Efficacy and Safety of Fufangdanshen Tablets in Mild to Moderate Vascular Dementia |
| NCT01953705 | PHASE2 | UNKNOWN | n-3 PUFA for Vascular Cognitive Aging |
| NCT01965756 | PHASE2 | COMPLETED | Effect of Insulin Sensitizer Metformin on AD Biomarkers |
| NCT01978730 | PHASE2 | UNKNOWN | The Clinical Trial of Chinese Herbal Medicine SaiLuoTong Capsule |
| NCT02467413 | PHASE2 | WITHDRAWN | BAC in Patient With Alzheimer’s Disease or Vascular Dementia |
| NCT03230071 | PHASE2 | COMPLETED | Efficacy and Safety of TMBCZG in Mild to Moderate Vascular Dementia |
| NCT04109963 | PHASE2 | UNKNOWN | Trial of Remote Ischemic Pre-conditioning in Vascular Cognitive Impairment |
| NCT05371639 | PHASE2 | UNKNOWN | Efficacy and Safety of Tian Ma Bian Chun Zhi Gan Tablets in Mild to Moderate Vascular Dementia |
| NCT01523262 | PHASE1 | UNKNOWN | Preventing Myocardial Ischemia by Preconditioning in Elective Operation for Abdominal Aortic Aneurysm |
| NCT02729064 | PHASE1 | UNKNOWN | Intraoperative Nasal Insulin Effect on Plasma and CSF Insulin Concentration and Blood Glucose |
Related Atlas pages
- Associated diseases: multiple congenital anomalies/dysmorphic syndrome, aneurysm, intracranial berry, 12, lymphatic malformation 13, intracranial berry aneurysm, non-immune hydrops fetalis
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aneurysm, intracranial berry, 12, aortic aneurysm, intracranial berry aneurysm, lymphatic malformation 13, multiple congenital anomalies/dysmorphic syndrome, non-immune hydrops fetalis, vascular dementia