MCID: GST019
MIFTS: 73

Gastrointestinal Stromal Tumor

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 57 12 25 59 75 13 55 15
Gist 57 12 53 25 59 75
Gastrointestinal Stromal Sarcoma 53 25 59 73
Gastrointestinal Stromal Tumors 53 44 73
Gastrointestinal Stromal Tumor, Familial 57 6
Paraganglioma and Gastric Stromal Sarcoma 73
Gastrointestinal Stromal Tumor, Somatic 57
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 25
Cancer, Gastrointestinal Stromal 40
Plexosarcoma 73
Gant 12

Characteristics:

Orphanet epidemiological data:

59
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
tumors usually develop between 40 and 60 years of age
both germline (familial) and somatic (sporadic) mutation in kit and pdgfra have been found


HPO:

32
gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Gastrointestinal Stromal Tumor

NIH Rare Diseases : 53 Gastrointestinal stromal tumors (GIST) are a type of soft tissue tumor that usually begin in specialized nerve cells in the wall of the stomach, intestines, or rectum, known as interstitial cells of Cajal. GIST may be noncancerous (benign) or cancerous (malignant). If cancerous, the tumor may also be called a soft tissue sarcoma. Symptoms depend on the location, size, and aggressiveness of the tumors, but may include vomiting of blood, bloody or tarry bowel movements, or anemia caused by  chronic bleeding. Other symptoms may include painful and swollen abdomen, appendicitis-like pain, or complications due to gastrointestinal obstruction or tumor rupture. GIST may only affect one member of a family (not inherited) or several family members (familial or inherited). The risk of GIST is increased in people who have a certain variations (mutations) in the KIT gene, PDGFRA genes, and possibly a few other genes. Disease-causing variations in these same genes are also involved in the non-inherited form of GIST, but the genetic variation occurs accidentally during a person's life time (acquired) rather than being passed down from one or both parents. Familial GIST, which usually involves more than one tumor, may follow an autosomal dominant or autosomal recessive inheritance pattern depending on the genetic variation. Treatment may include surgery to remove the tumors, and/or medication with tyrosine kinase inhibitors (TKI) depending on the extent of disease and tumor sensitivity to TKI.  In very rare cases GIST may be part of a genetic syndrome, such as Neurofibromatosis type 1 (NF1) and Carney triad. The prognosis depends on the severity, size, location of the tumor and whether the tumor is cancerous, can be removed by surgery, or if it has spread to other parts of the body (metastasized).

MalaCards based summary : Gastrointestinal Stromal Tumor, also known as gist, is related to desmoid tumor and carney triad. An important gene associated with Gastrointestinal Stromal Tumor is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Gleevec and Stivarga have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and endothelial, and related phenotypes are skin rash and abnormality of the liver

Genetics Home Reference : 25 A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign).

OMIM : 57 Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (17,18:Miettinen et al., 1999, 1999). GISTs can also be seen in neurofibromatosis-1 (NF1; 162200) due to mutations in the NF1 gene, and are thus distinct from the GISTs described here. Sandberg and Bridge (2002) reviewed the cytogenetics and molecular genetics of gastrointestinal stromal tumors. Coffey et al. (2007) reviewed the clinical features, pathogenesis, and molecular treatments of Menetrier disease (137280) and GIST, both of which are hyperproliferative disorders of the stomach caused by dysregulated receptor tyrosine kinases. (606764)

UniProtKB/Swiss-Prot : 75 Gastrointestinal stromal tumor: Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery.

Wikipedia : 76 Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the... more...

Related Diseases for Gastrointestinal Stromal Tumor

Diseases related to Gastrointestinal Stromal Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 293, show less)
# Related Disease Score Top Affiliating Genes
1 desmoid tumor 33.8 KIT PDGFRA PDGFRB
2 carney triad 33.8 KIT PDGFRA SDHA SDHB SDHC
3 neurofibromatosis, type iv, of riccardi 32.2 KIT PDGFRA SDHB SDHC
4 fibromatosis 32.0 ACTC1 DES KIT
5 leiomyoma 32.0 ACTC1 DES KIT
6 adenocarcinoma 31.8 BRAF KIT KRAS NTRK3
7 neurofibroma 31.6 KIT KITLG PDGFRA
8 paraganglioma 31.6 ENO2 SDHA SDHB SDHC
9 perivascular epithelioid cell tumor 31.6 ACTC1 DES KIT
10 leiomyosarcoma 31.5 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
11 malignant peripheral nerve sheath tumor 31.4 ACTC1 KIT PDGFRA
12 chondroma 31.3 ACTC1 SDHB SDHC
13 undifferentiated pleomorphic sarcoma 31.3 KIT KRAS PDGFRA
14 smooth muscle tumor 31.3 ACTC1 DES KIT
15 glomus tumor 31.3 ACTC1 DES ENO2 SDHB
16 dermatofibrosarcoma protuberans 31.2 ACTC1 DES KIT PDGFRA PDGFRB
17 inflammatory myofibroblastic tumor 31.2 ACTC1 DES KIT
18 glomangioma 31.1 ACTC1 DES ENO2
19 nondisjunction 31.1 KIT MTHFR
20 sarcoma 31.0 BRAF HOTAIR KIT KRAS
21 gastric adenocarcinoma 30.4 BRAF HOTAIR KIT KRAS
22 renal cell carcinoma, nonpapillary 30.4 HOTAIR KIT PDGFRB SDHB
23 myelodysplastic syndrome 30.4 ABL1 KIT KITLG KRAS PDGFRB
24 pheochromocytoma 30.3 ENO2 MEN1 SDHA SDHB SDHC
25 ewing sarcoma 30.3 DES ENO2 ETV1 KIT KITLG PDGFRA
26 multiple endocrine neoplasia 30.3 MEN1 SDHB SDHC
27 leukemia, chronic myeloid 29.7 ABL1 HOTAIR KIT KITLG PDGFRA PDGFRB
28 leukemia, acute myeloid 28.8 ABL1 CCDC26 HOTAIR KIT KITLG KRAS
29 paraganglioma and gastric stromal sarcoma 12.0
30 plexosarcoma 11.3
31 ovarian fibrothecoma 11.2 ACTC1 DES KIT
32 reticular perineurioma 11.2 KIT PDGFRA
33 cystic nephroma 11.2 ACTC1 DES KIT
34 neural crest tumor 11.2 SDHA SDHB SDHC
35 fibroblastic rheumatism 11.2 ACTC1 DES
36 primary hypereosinophilic syndrome 11.2 PDGFRA PDGFRB
37 lung adenoid cystic carcinoma 11.2 KIT KRAS PDGFRA
38 hypereosinophilic syndrome, idiopathic 11.2 KIT PDGFRA PDGFRB
39 persistent generalized lymphadenopathy 11.2 SDHA SDHB SDHC
40 angiolipoma 11.2 ACTC1 DES
41 angiomyolipoma 11.2 ACTC1 DES KIT
42 gastric leiomyosarcoma 11.2 ENO2 KIT PDGFRA
43 conventional fibrosarcoma 11.2 ENO2 KIT PDGFRA
44 endometrial small cell carcinoma 11.2 ENO2 KIT PDGFRA
45 non-langerhans-cell histiocytosis 11.2 ACTC1 BRAF DES
46 pulmonary vein stenosis 11.1 ACTC1 DES KIT PDGFRA
47 fibrosarcoma of bone 11.1 KIT PDGFRA PDGFRB
48 cutaneous leiomyosarcoma 11.1 ACTC1 DES
49 lymph node disease 11.1 SDHA SDHB SDHC
50 gallbladder sarcoma 11.1 DES KIT
51 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 11.1 PDGFRA PDGFRB
52 hereditary paraganglioma-pheochromocytoma syndromes 11.1 SDHA SDHB SDHC
53 uterine sarcoma 11.1 DES KIT PDGFRB
54 ossifying fibromyxoid tumor 11.1 ACTC1 DES ENO2
55 myopericytoma 11.1 ACTC1 BRAF PDGFRB
56 epithelioid leiomyosarcoma 11.1 ACTC1 DES ENO2
57 mitochondrial complex ii deficiency 11.1 SDHA SDHB SDHC
58 botryoid rhabdomyosarcoma 11.1 ACTC1 DES
59 breast rhabdomyosarcoma 11.1 DES ENO2
60 paragangliomas 1 11.1 SDHB SDHC
61 infantile myofibromatosis 11.1 ACTC1 DES PDGFRB
62 congenital fibrosarcoma 11.1 ACTC1 DES NTRK3
63 gastrointestinal system benign neoplasm 11.1 KIT KRAS MTHFR
64 familial isolated dilated cardiomyopathy 11.1 ACTC1 DES SDHA
65 malignant mesenchymoma 11.1 DES KIT NTRK3
66 polymorphous low-grade adenocarcinoma 11.1 ACTC1 KIT NTRK3
67 primitive neuroectodermal tumor of the cervix uteri 11.1 DES ENO2
68 spindle cell sarcoma 11.1 ACTC1 DES NTRK3
69 muscle cancer 11.1 DES ENO2 KIT
70 mixed cell type cancer 11.1 ENO2 KIT KRAS
71 myofibromatosis, infantile, 1 11.1 ACTC1 PDGFRB
72 pseudosarcomatous fibromatosis 11.1 ACTC1 DES NTRK3
73 adenosquamous cell lung carcinoma 11.1 ENO2 KRAS PDGFRA
74 sm-ahnmd 11.1 KIT PDGFRA
75 piebald trait 11.1 KIT KITLG PDGFRA
76 neurilemmoma 11.1 DES ENO2 KIT PDGFRA
77 small cell carcinoma 11.1 ENO2 KIT PDGFRA
78 syringocystadenoma papilliferum 11.1 ACTC1 BRAF DES KRAS
79 malignant ectomesenchymoma 11.1 DES ENO2
80 spindle cell carcinoma 11.1 ACTC1 DES ENO2
81 cellular neurofibroma 11.0 ABL1 PDGFRB
82 endometrial stromal sarcoma 11.0 ACTC1 DES KIT PDGFRB
83 teratoma 11.0 ACTC1 ENO2 KIT
84 heart sarcoma 11.0 ENO2 KIT PDGFRA PDGFRB
85 cutaneous ganglioneuroma 11.0 ENO2 KIT
86 chronic eosinophilic leukemia 11.0 ABL1 KIT PDGFRA PDGFRB
87 mast-cell leukemia 11.0 KIT KITLG NTRK3
88 mast cell neoplasm 11.0 KIT KITLG NTRK3
89 systemic mastocytosis 11.0 KIT KITLG PDGFRA PDGFRB
90 myeloproliferative neoplasm 11.0 ABL1 KIT PDGFRA PDGFRB
91 mast cell disease 11.0 KIT KITLG PDGFRA PDGFRB
92 connective tissue cancer 11.0 ENO2 KIT NTRK3
93 leukocyte disease 11.0 KIT KITLG PDGFRA PDGFRB
94 ectomesenchymoma 11.0 DES ENO2
95 hyperplastic polyposis syndrome 11.0 BRAF KRAS
96 testicular germ cell tumor 10.9 BRAF KIT KITLG
97 hypereosinophilic syndrome 10.9 ABL1 KIT PDGFRA PDGFRB
98 juvenile myelomonocytic leukemia 10.9 BRAF KRAS PDGFRA PDGFRB
99 cell type cancer 10.9 ENO2 KIT KRAS
100 spindle cell lipoma 10.9 ACTC1 DES
101 rhabdomyosarcoma 10.9 ACTC1 DES ENO2 PDGFRA
102 leukemia, acute lymphoblastic 3 10.9 ABL1 KITLG PDGFRA
103 parachordoma 10.9 ACTC1 DES
104 differentiated thyroid carcinoma 10.9 BRAF KRAS MTHFR NTRK3
105 papillary tumor of the pineal region 10.9 BRAF ENO2
106 adrenal medulla cancer 10.8 SDHB SDHC
107 epulis 10.8 DES ENO2
108 polycythemia vera 10.7 ABL1 KIT KITLG PDGFRA PDGFRB
109 bone marrow cancer 10.7 ABL1 KIT KITLG PDGFRA PDGFRB
110 brain cancer 10.7 BRAF ENO2 NTRK3 PDGFRA PDGFRB
111 atypical teratoid rhabdoid tumor 10.6 ACTC1 DES HOTAIR
112 gastrointestinal system cancer 10.6 HOTAIR KIT KRAS PDGFRA
113 duodenitis 10.5
114 pilocytic astrocytoma 10.5 BRAF KRAS PDGFRB
115 von hippel-lindau syndrome 10.5 MEN1 SDHB SDHC
116 organ system benign neoplasm 10.4 ENO2 KIT MEN1
117 duodenum cancer 10.4 ENO2 KRAS MEN1
118 neurofibromatosis, type i 10.4
119 extra-adrenal pheochromocytoma 10.4 SDHB SDHC
120 pancreatic somatostatinoma 10.4 ENO2 MEN1
121 pancreatitis 10.4
122 esophagitis 10.3
123 endocrine gland cancer 10.3 ENO2 KRAS MEN1 SDHB SDHC
124 hepatitis 10.3
125 medulloblastoma 10.2 DES ENO2 HOTAIR NTRK3 PDGFRA
126 intussusception 10.2
127 prostatitis 10.2
128 lymphoma 10.2
129 peritonitis 10.2
130 leukemia 10.2
131 hypoglycemia 10.1
132 melanoma 10.1
133 myeloid leukemia 10.1
134 type i 10.1
135 endotheliitis 10.1
136 somatostatinoma 10.1
137 soft tissue sarcoma 10.0
138 gastric cancer 10.0
139 b-cell lymphomas 10.0
140 neuroendocrine tumor 10.0
141 gastroduodenitis 10.0
142 hepatocellular carcinoma 9.9
143 lentigines 9.9
144 renal cell carcinoma, papillary, 1 9.9
145 islet cell tumor 9.9
146 acute pancreatitis 9.9
147 adenoma 9.9
148 mediastinitis 9.9
149 intestinal obstruction 9.9
150 gastric duplication cysts 9.9
151 pancreatic neuroendocrine tumor 9.9
152 dysphagia 9.9
153 hypoxia 9.9
154 pelvic organ prolapse 9.9
155 ependymoma 9.9 ENO2 HOTAIR MEN1
156 hematologic cancer 9.8 ABL1 CCDC26 KIT KITLG PDGFRB
157 meckel diverticulum 9.8
158 hemangiopericytoma, malignant 9.8
159 sarcoma, synovial 9.8
160 crohn's disease 9.8
161 mantle cell lymphoma 9.8
162 familial adenomatous polyposis 9.8
163 colorectal adenocarcinoma 9.8
164 nephrotic syndrome 9.8
165 gynecomastia 9.8
166 hyperinsulinemic hypoglycemia 9.8
167 obstructive jaundice 9.8
168 colon adenocarcinoma 9.8
169 granular cell tumor 9.8
170 cerebritis 9.8
171 neurofibrosarcoma 9.8
172 hepatoblastoma 9.8
173 thyroiditis 9.8
174 duodenal somatostatinoma 9.8
175 sarcomatosis 9.8
176 neuronitis 9.8
177 appendicitis 9.8
178 skin melanoma 9.8
179 hemophilia 9.8
180 bronchogenic cyst 9.8
181 ewing's family of tumors 9.8
182 thyroid carcinoma, familial medullary 9.7 ENO2 KRAS MEN1
183 acanthosis nigricans 9.7
184 arteries, anomalies of 9.7
185 breast cancer 9.7
186 colorectal cancer 9.7
187 lymphoma, mucosa-associated lymphoid type 9.7
188 leiomyoma, uterine 9.7
189 ovarian cancer 9.7
190 multiple endocrine neoplasia, type iia 9.7
191 adrenocortical carcinoma, hereditary 9.7
192 lung cancer 9.7
193 jejunal atresia 9.7
194 moyamoya disease 1 9.7
195 myeloma, multiple 9.7
196 neuroblastoma 9.7
197 mismatch repair cancer syndrome 9.7
198 hemophilia a 9.7
199 aging 9.7
200 suppression of tumorigenicity 12 9.7
201 stroke, ischemic 9.7
202 aneurysmal bone cysts 9.7
203 body mass index quantitative trait locus 1 9.7
204 ovarian cancer 1 9.7
205 acute promyelocytic leukemia 9.7
206 lung cancer susceptibility 3 9.7
207 cholangiocarcinoma 9.7
208 angina pectoris 9.7
209 autoimmune hepatitis 9.7
210 congestive heart failure 9.7
211 coronary artery anomaly 9.7
212 diffuse large b-cell lymphoma 9.7
213 glomerulonephritis 9.7
214 hemangioma 9.7
215 hydrocephalus 9.7
216 liver disease 9.7
217 neutropenia 9.7
218 pancreas adenocarcinoma 9.7
219 ulcerative colitis 9.7
220 angiosarcoma 9.7
221 colitis 9.7
222 jejunoileitis 9.7
223 ileocolitis 9.7
224 umbilical hernia 9.7
225 gastric lymphoma 9.7
226 microinvasive gastric cancer 9.7
227 strongyloidiasis 9.7
228 arteriovenous malformation 9.7
229 dieulafoy lesion 9.7
230 urticaria pigmentosa 9.7
231 hyperparathyroidism 9.7
232 cholestasis 9.7
233 extrahepatic cholestasis 9.7
234 schistosomiasis 9.7
235 obstructive hydrocephalus 9.7
236 hypothyroidism 9.7
237 urticaria 9.7
238 lymphadenitis 9.7
239 thyroid cancer 9.7
240 cholecystitis 9.7
241 adenosarcoma 9.7
242 vaginitis 9.7
243 dyspepsia 9.7
244 acromegaly 9.7
245 angiodysplasia 9.7
246 cervicitis 9.7
247 endometrial adenocarcinoma 9.7
248 endometriosis 9.7
249 mucinous adenocarcinoma 9.7
250 lipomatosis 9.7
251 thymus cancer 9.7
252 laryngitis 9.7
253 signet ring cell adenocarcinoma 9.7
254 gallbladder adenocarcinoma 9.7
255 retinitis 9.7
256 cutaneous mastocytosis 9.7
257 adrenal cortical adenocarcinoma 9.7
258 gastritis 9.7
259 granulomatous gastritis 9.7
260 amelanotic melanoma 9.7
261 clear cell renal cell carcinoma 9.7
262 perineurioma 9.7
263 rapidly progressive glomerulonephritis 9.7
264 adenosquamous carcinoma 9.7
265 bile duct adenocarcinoma 9.7
266 intrahepatic cholangiocarcinoma 9.7
267 plexiform neurofibroma 9.7
268 gastrinoma 9.7
269 pancreatic gastrinoma 9.7
270 lymphoepithelioma-like carcinoma 9.7
271 follicular adenoma 9.7
272 gastric cardia carcinoma 9.7
273 cowden disease 9.7
274 prostate stromal sarcoma 9.7
275 situs inversus 9.7
276 polycythemia 9.7
277 intestinal volvulus 9.7
278 neuropathy 9.7
279 rosacea 9.7
280 amyloidosis 9.7
281 emphysematous cholecystitis 9.7
282 hydrocele 9.7
283 acquired hemophilia 9.7
284 desmoplastic small round cell tumor 9.7
285 lentigo maligna melanoma 9.7
286 maculopapular cutaneous mastocytosis 9.7
287 aneurysm 9.7
288 severe hemophilia a 9.7
289 igg4-related mesenteritis 9.7
290 osteoclastic giant cell tumor of pancreas 9.7
291 familial progressive hyperpigmentation 9.7
292 refractory anemia 9.7
293 intravascular large b-cell lymphoma 9.7

Graphical network of the top 20 diseases related to Gastrointestinal Stromal Tumor:



Diseases related to Gastrointestinal Stromal Tumor

Symptoms & Phenotypes for Gastrointestinal Stromal Tumor

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
intestinal obstruction
gastrointestinal stromal tumors
pathology resembles neurofibromas
hyperplasia of the myenteric plexus
more
Skin Nails Hair Skin:
hyperpigmentation (in patients with kit mutations)
urticaria pigmentosa or cutaneous mastocytosis (in patients with kit mutations)

Skeletal Hands:
large hands (in patients with pdgfra mutations)


Clinical features from OMIM:

606764

Human phenotypes related to Gastrointestinal Stromal Tumor:

59 32 (showing 22, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
2 abnormality of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0001392
3 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
6 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
7 gastrointestinal hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002239
8 intestinal obstruction 59 32 frequent (33%) Frequent (79-30%) HP:0005214
9 neoplasm of the stomach 59 32 hallmark (90%) Very frequent (99-80%) HP:0006753
10 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
11 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
12 sarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100242
13 neoplasm of the colon 59 32 occasional (7.5%) Occasional (29-5%) HP:0100273
14 gastrointestinal stroma tumor 59 32 hallmark (90%) Very frequent (99-80%) HP:0100723
15 neoplasm of the rectum 59 32 occasional (7.5%) Occasional (29-5%) HP:0100743
16 esophageal neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100751
17 neoplasm of the small intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0100833
18 neoplasm of the gastrointestinal tract 59 Occasional (29-5%)
19 hyperpigmentation of the skin 32 HP:0000953
20 urticaria 32 HP:0001025
21 neurofibromas 32 HP:0001067
22 large hands 32 HP:0001176

GenomeRNAi Phenotypes related to Gastrointestinal Stromal Tumor according to GeneCards Suite gene sharing:

26 (showing 20, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.63 BRAF KRAS
2 Decreased viability GR00106-A-0 10.63 KRAS
3 Decreased viability GR00107-A-1 10.63 PRKCQ
4 Decreased viability GR00173-A 10.63 PRKCQ PDGFRA
5 Decreased viability GR00221-A-1 10.63 PRKCQ KRAS PDGFRA PDGFRB ABL1 KIT
6 Decreased viability GR00221-A-2 10.63 PRKCQ NTRK3 KRAS ABL1
7 Decreased viability GR00221-A-3 10.63 PRKCQ PDGFRA PDGFRB ABL1
8 Decreased viability GR00221-A-4 10.63 PRKCQ BRAF NTRK3 PDGFRA PDGFRB
9 Decreased viability GR00301-A 10.63 BRAF KRAS KIT
10 Decreased viability GR00342-S-1 10.63 PDGFRB ABL1
11 Decreased viability GR00342-S-2 10.63 ABL1
12 Decreased viability GR00342-S-3 10.63 ABL1
13 Decreased viability GR00381-A-1 10.63 BRAF KRAS
14 Decreased viability GR00402-S-2 10.63 PRKCQ NTRK3 PDGFRA PDGFRB ABL1 KIT
15 Decreased substrate adherent cell growth GR00193-A-1 9.8 KIT
16 Decreased substrate adherent cell growth GR00193-A-2 9.8 ABL1 KIT
17 Decreased substrate adherent cell growth GR00193-A-3 9.8 BRAF
18 Decreased substrate adherent cell growth GR00193-A-4 9.8 KIT ABL1 BRAF
19 Decreased viability in esophageal squamous lineage GR00235-A 9.65 ABL1 BRAF DES KIT KRAS MEN1
20 Increased cell viability after pRB stimulation GR00230-A-1 8.92 ABL1 KIT PDGFRB PRKCQ

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

46 (showing 19, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.42 PRKCQ SDHA SDHB SDHC ABL1 ACTC1
2 cardiovascular system MP:0005385 10.4 ABL1 ACTC1 BRAF DES KIT KITLG
3 cellular MP:0005384 10.39 KIT KITLG KRAS MEN1 PDGFRA PDGFRB
4 homeostasis/metabolism MP:0005376 10.39 ABL1 ACTC1 BRAF DES KIT KITLG
5 growth/size/body region MP:0005378 10.37 ETV1 KIT KITLG KRAS MEN1 MTHFR
6 nervous system MP:0003631 10.25 ABL1 BRAF ENO2 ETV1 KIT KITLG
7 endocrine/exocrine gland MP:0005379 10.24 PRKCQ SDHB ABL1 BRAF KIT KITLG
8 craniofacial MP:0005382 10.22 ABL1 BRAF ENO2 KIT KITLG KRAS
9 muscle MP:0005369 10.22 ABL1 ACTC1 BRAF DES ETV1 KIT
10 digestive/alimentary MP:0005381 10.21 ABL1 BRAF KIT KITLG KRAS MEN1
11 embryo MP:0005380 10.15 ABL1 BRAF KIT KITLG KRAS MEN1
12 normal MP:0002873 10.07 KIT KRAS NTRK3 PDGFRA PDGFRB SDHB
13 neoplasm MP:0002006 10.06 BRAF KIT KITLG KRAS MEN1 PDGFRA
14 no phenotypic analysis MP:0003012 9.95 KIT KRAS MTHFR NTRK3 PDGFRA PRKCQ
15 reproductive system MP:0005389 9.91 BRAF KIT KITLG KRAS MEN1 MTHFR
16 pigmentation MP:0001186 9.8 BRAF KIT KITLG KRAS PDGFRA PRKCQ
17 respiratory system MP:0005388 9.76 ABL1 BRAF ENO2 KIT KRAS NTRK3
18 skeleton MP:0005390 9.61 ABL1 BRAF KIT KITLG KRAS MTHFR
19 vision/eye MP:0005391 9.28 ABL1 BRAF KIT KITLG KRAS MTHFR

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

(showing 4, show less)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
2
Stivarga 18 49 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
3
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
4
Votrient 18 49 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009

Drugs for Gastrointestinal Stromal Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 169, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4,Phase 1 61825-94-3 5310940 9887054 43805 6857599
2
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 341031-54-7, 557795-19-4 5329102
3
Everolimus Approved Phase 4,Phase 1,Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 4,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
5
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
6
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
7
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
8 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 220127-57-1 123596
12 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Anesthetics Phase 4,Phase 3,Phase 1,Not Applicable
14 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
15 Adjuvants, Anesthesia Phase 4,Phase 3,Phase 1
16 Anesthetics, General Phase 4,Phase 3,Phase 1
17 Anesthetics, Intravenous Phase 4,Phase 3,Phase 1
18 Anti-Anxiety Agents Phase 4,Phase 1
19 Central Nervous System Depressants Phase 4,Phase 3,Phase 1
20 Central Nervous System Stimulants Phase 4
21
Erlotinib Hydrochloride Phase 4,Phase 1 183319-69-9 176871
22 GABA Agents Phase 4,Phase 1
23 GABA Modulators Phase 4,Phase 1
24 Hypnotics and Sedatives Phase 4,Phase 1
25 Neurotransmitter Agents Phase 4,Phase 1
26 Pharmaceutical Solutions Phase 4,Phase 3
27 Phosphodiesterase Inhibitors Phase 4
28 Psychotropic Drugs Phase 4,Phase 1
29 Purinergic P1 Receptor Antagonists Phase 4
30 Tranquilizing Agents Phase 4,Phase 1
31 Gastrointestinal Agents Phase 4,Phase 2
32 Antacids Phase 4
33 Anti-Ulcer Agents Phase 4
34 Proton Pump Inhibitors Phase 4
35 Cola Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
37
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 302962-49-8 3062316
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
39
Formaldehyde Approved, Vet_approved Phase 3 50-00-0 712
40
Menthol Approved Phase 3 2216-51-5 16666
41 Orange Approved, Nutraceutical Phase 2, Phase 3
42
Lactitol Investigational Phase 2, Phase 3 585-86-4 3871
43 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
44
Crenolanib Investigational Phase 3,Phase 2 670220-88-9 10366136
45 Analgesics Phase 3
46 Bone Density Conservation Agents Phase 3
47 Calcium, Dietary Phase 3,Phase 1
48 Analgesics, Opioid Phase 3
49 Narcotics Phase 3
50 Peripheral Nervous System Agents Phase 3
51 Antibodies Phase 3,Phase 2,Phase 1
52 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
53 Endothelial Growth Factors Phase 3,Phase 2
54 Immunoglobulins Phase 3,Phase 2,Phase 1
55 Mitogens Phase 3,Phase 2
56 Immunoglobulin G Phase 3
57 tyrosine Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable
58 carnitine Nutraceutical Phase 3
59
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
60
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
61
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
62
Docetaxel Approved, Investigational Phase 2,Phase 1 114977-28-5 148124
63
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
64
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
65
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 22916-47-8 4189
66
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
67
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
68
Xylometazoline Approved, Investigational Phase 2 526-36-3 5709
69
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
70
Gemcitabine Approved Phase 2,Phase 1 95058-81-4 60750
71
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
72
Floxuridine Approved Phase 2,Phase 1 50-91-9 5790
73
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
74
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
75
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
76
nivolumab Approved Phase 2 946414-94-4
77
Iron Approved Phase 2 7439-89-6 23925
78
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
79
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
80
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
81
Trametinib Approved Phase 2 871700-17-3 11707110
82
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
83
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
84
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 59-30-3 6037
85
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
86
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
87
Cediranib Investigational Phase 2 288383-20-0 9933475
88
Vatalanib Investigational Phase 2 212141-54-3 151194
89
Camptothecin Experimental Phase 2,Phase 1 7689-03-4
90
Rubitecan Investigational Phase 2 91421-42-0
91
Doxil Approved June 1999 Phase 1, Phase 2 31703
92 Antimetabolites Phase 2,Phase 1
93 Antimetabolites, Antineoplastic Phase 2,Phase 1
94 Antimitotic Agents Phase 2,Phase 1
95 Micronutrients Phase 2,Phase 1
96 Nicotinic Acids Phase 2
97 Trace Elements Phase 2,Phase 1
98 Vitamin B Complex Phase 2,Phase 1
99 Vitamins Phase 2,Phase 1,Not Applicable
100 Alkylating Agents Phase 2,Phase 1
101 Antineoplastic Agents, Alkylating Phase 2,Phase 1
102 Deoxyglucose Phase 2
103 Anti-Bacterial Agents Phase 1, Phase 2,Phase 2
104 Antibiotics, Antitubercular Phase 1, Phase 2,Phase 2
105 Antifungal Agents Phase 1, Phase 2,Phase 2
106 Anti-Infective Agents Phase 1, Phase 2,Phase 2
107 PONATINIB  Phase 2
108 Albumin-Bound Paclitaxel Phase 2,Phase 1
109 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
110 Fluorodeoxyglucose F18 Phase 2
111 Hormones Phase 2,Phase 1
112 Antiviral Agents Phase 2,Phase 1
113 Semaxinib Phase 2
114 topoisomerase I inhibitors Phase 2,Phase 1
115 Topoisomerase Inhibitors Phase 2,Phase 1
116 Antineoplastic Agents, Hormonal Phase 2
117 Ferric Compounds Phase 2
118 Hematinics Phase 2,Phase 1
119 interferons Phase 2
120 Cathartics Phase 2
121 Laxatives Phase 2
122 Radiopharmaceuticals Phase 1, Phase 2
123 Folate Nutraceutical Phase 2,Phase 1
124 Vitamin B3 Nutraceutical Phase 2
125 Vitamin B9 Nutraceutical Phase 2,Phase 1
126 Iron Supplement Nutraceutical Phase 2
127
Ketoconazole Approved, Investigational Phase 1 65277-42-1 47576 3823
128
Fluorouracil Approved Phase 1 51-21-8 3385
129
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
130
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
131
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
132
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
133
Warfarin Approved Phase 1 81-81-2 6691 54678486
134
Cocaine Approved, Illicit Phase 1 50-36-2 5760 446220
135
leucovorin Approved, Nutraceutical Phase 1 58-05-9 143 6006
136
Menadione Approved, Nutraceutical Phase 1 58-27-5 4055
137
Phytonadione Approved, Investigational, Nutraceutical Phase 1 84-80-0 4812 5284607
138
Alvocidib Experimental, Investigational Phase 1 146426-40-6, 131740-09-5 5287969
139
7-hydroxystaurosporine Experimental, Investigational Phase 1 112953-11-4 72271
140 Staurosporine Experimental Phase 1 62996-74-1
141 Vaccines Phase 1
142 Cytochrome P-450 CYP3A Inhibitors Phase 1
143 Cytochrome P-450 Enzyme Inhibitors Phase 1
144 Hormone Antagonists Phase 1
145 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
146 Steroid Synthesis Inhibitors Phase 1
147 Antidotes Phase 1
148 Protective Agents Phase 1
149 Antirheumatic Agents Phase 1
150 Antibodies, Bispecific Phase 1
151 Anticoagulants Phase 1
152 Antifibrinolytic Agents Phase 1
153 Coagulants Phase 1
154 Hemostatics Phase 1
155 glutamine Nutraceutical Phase 1,Not Applicable
156 Menaquinone Nutraceutical Phase 1
157 naphthoquinone Nutraceutical Phase 1
158 Vitamin K Nutraceutical Phase 1
159
Hydroxyurea Approved Not Applicable 127-07-1 3657
160
Axitinib Approved, Investigational 319460-85-0 6450551
161
Pancrelipase Approved, Investigational 53608-75-6
162
Imidacloprid Vet_approved 105827-78-9 86418
163 Etanidazole Investigational Not Applicable 22668-01-5
164
Motexafin lutetium Investigational Not Applicable 246252-04-0
165 pancreatin
166 Dermatologic Agents Not Applicable
167 Photosensitizing Agents Not Applicable
168 arginine Nutraceutical Not Applicable
169 Omega 3 Fatty Acid Nutraceutical Not Applicable

Interventional clinical trials:

(showing 274, show less)
# Name Status NCT ID Phase Drugs
1 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
2 Relationship Between Platinum Levels in the Blood and Neurotoxicity in Patients Who Are Receiving Oxaliplatin for Gastrointestinal Cancer Unknown status NCT00274885 Phase 4 oxaliplatin
3 Safety And Efficacy Study Of Sunitinib Malate In Chinese Patients With Imatinib Resistant Or Intolerant Malignant Gastrointestinal Stromal Tumor Completed NCT00793871 Phase 4 Sunitinib Malate (SU011248)
4 Post-Marketing Clinical Study of Postoperative Adjuvant Therapy With Imatinib Mesylate in Patients With Gastrointestinal Stromal Tumors