MCID: GST019
MIFTS: 74

Gastrointestinal Stromal Tumor

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

Aliases & Classifications for Gastrointestinal Stromal Tumor

MalaCards integrated aliases for Gastrointestinal Stromal Tumor:

Name: Gastrointestinal Stromal Tumor 53 12 24 55 71 28 13 51 14
Gist 53 12 49 24 55 71
Gastrointestinal Stromal Sarcoma 49 24 55 69
Gastrointestinal Stromal Tumors 49 41 69
Paraganglioma and Gastric Stromal Sarcoma 69
Gastrointestinal Stromal Tumor, Familial 53
Gastrointestinal Stromal Tumor, Somatic 53
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 24
Plexosarcoma 69
Gant 12

Characteristics:

Orphanet epidemiological data:

55
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

53
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:

31
gastrointestinal stromal tumor:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Gastrointestinal Stromal Tumor

NIH Rare Diseases : 49 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). Last updated: 12/29/2017

MalaCards based summary : Gastrointestinal Stromal Tumor, also known as gist, is related to paraganglioma and gastric stromal sarcoma and desmoid tumor, and has symptoms including constipation, fatigue and nausea and vomiting. 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 Akt Signaling. 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 Decreased viability and Decreased viability

Genetics Home Reference : 24 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 : 53 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 : 71 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 : 72 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 340, show less)
# Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 34.0 SDHB SDHC SDHD
2 desmoid tumor 33.1 KIT PDGFRA PDGFRB
3 carney triad 32.8 KIT PDGFRA SDHA SDHB SDHC SDHD
4 neurofibromatosis, type iv, of riccardi 31.4 KIT PDGFRA S100B SDHB SDHC SDHD
5 fibromatosis 31.2 ACTC1 DES KIT VIM
6 leiomyoma 31.2 ACTC1 CD34 DES
7 paraganglioma 30.8 ENO2 SDHA SDHB SDHC SDHD
8 hemangiopericytoma, malignant 30.8 ACTC1 DES S100B VIM
9 perivascular epithelioid cell tumor 30.7 ACTC1 DES KIT VIM
10 neurofibroma 30.7 KIT KITLG PDGFRA S100B
11 sarcoma, synovial 30.7 DES KIT VIM
12 pheochromocytoma 30.6 ENO2 SDHA SDHB SDHC SDHD
13 granular cell tumor 30.6 DES ENO2 S100B VIM
14 leiomyosarcoma 30.6 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
15 perineurioma 30.6 KIT S100B VIM
16 chondroma 30.5 ACTC1 SDHB SDHC SDHD
17 smooth muscle tumor 30.5 ACTC1 DES KIT VIM
18 malignant peripheral nerve sheath tumor 30.4 ACTC1 CD34 KIT PDGFRA S100B VIM
19 glomus tumor 30.4 ACTC1 DES ENO2 SDHB SDHD VIM
20 inflammatory myofibroblastic tumor 30.3 ACTC1 DES KIT S100B VIM
21 meningioma, familial 30.2 CD34 PDGFRB S100B VIM
22 desmoplastic small round cell tumor 30.2 ACTC1 DES ENO2 S100B VIM
23 glomangioma 30.2 ACTC1 CD34 DES ENO2 VIM
24 dermatofibrosarcoma protuberans 30.2 ACTC1 CD34 DES PDGFRA PDGFRB S100B
25 renal cell carcinoma, nonpapillary 29.9 ENO2 FLT3 KIT PDGFRB SDHB SDHC
26 nondisjunction 29.9 KIT MTHFR
27 leukemia, acute myeloid 29.8 ABL1 CD34 FLT3 KIT KITLG
28 leukemia, chronic myeloid 29.6 ABL1 CD34 FLT3 KIT KITLG PDGFRA
29 ewing sarcoma 29.4 CD34 DES ENO2 ETV1 KIT KITLG
30 myelodysplastic syndrome 29.3 ABL1 CD34 FLT3 KIT KITLG PDGFRB
31 gallbladder leiomyoma 10.8 CD34 KIT
32 lung leiomyosarcoma 10.8 CD34 KIT
33 skin glomus tumor 10.8 DES VIM
34 lymphangiectasis 10.7 ACTC1 VIM
35 infantile digital fibromatosis 10.7 DES VIM
36 reticular perineurioma 10.7 KIT PDGFRA S100B
37 paragangliomas 1 10.7 SDHB SDHC SDHD
38 liver leiomyoma 10.7 CD34 KIT
39 ovarian fibrothecoma 10.7 ACTC1 DES KIT
40 adrenal medulla cancer 10.7 SDHB SDHC SDHD
41 extra-adrenal pheochromocytoma 10.7 SDHB SDHC SDHD
42 sporadic pheochromocytoma 10.7 SDHB SDHC SDHD
43 primary hypereosinophilic syndrome 10.7 PDGFRA PDGFRB
44 hydromyelia 10.7 S100B VIM
45 lymphangiomatosis 10.7 DES VIM
46 cystic nephroma 10.7 ACTC1 DES KIT
47 gallbladder sarcoma 10.7 CD34 DES KIT
48 angiolipoma 10.7 ACTC1 DES VIM
49 cutaneous leiomyosarcoma 10.7 ACTC1 DES VIM
50 deep leiomyoma 10.7 CD34 KIT
51 spindle cell lipoma 10.7 ACTC1 DES VIM
52 parachordoma 10.7 ACTC1 DES VIM
53 mesenchymal cell neoplasm 10.7 CD34 KIT PDGFRA
54 benign metastasizing leiomyoma 10.7 ACTC1 DES VIM
55 fibroblastic rheumatism 10.7 ACTC1 DES
56 phaeochromocytoma 10.7 SDHB SDHC SDHD
57 hypereosinophilic syndrome, idiopathic 10.7 KIT PDGFRA PDGFRB
58 syringoma 10.7 DES S100B VIM
59 glomangiomyoma 10.7 ACTC1 CD34 VIM
60 reticulum cell sarcoma 10.7 ACTC1 DES VIM
61 juvenile xanthogranuloma 10.7 DES S100B VIM
62 pseudosarcomatous fibromatosis 10.7 ACTC1 DES VIM
63 lymphatic system disease 10.7 SDHB SDHC SDHD
64 angiocentric glioma 10.7 ACTC1 S100B VIM
65 angiomyolipoma 10.7 ACTC1 DES KIT
66 ischemic fasciitis 10.7 ACTC1 CD34 DES
67 chondromyxoid fibroma 10.7 ACTC1 DES VIM
68 spiradenoma 10.7 ACTC1 S100B VIM
69 extracutaneous mastocytoma 10.7 CD34 KIT
70 endometrial small cell carcinoma 10.7 ENO2 KIT PDGFRA
71 pulmonary vein stenosis 10.7 ACTC1 DES KIT PDGFRA
72 fibrosarcoma of bone 10.7 KIT PDGFRA PDGFRB
73 dendritic cell tumor 10.7 ACTC1 S100B VIM
74 fasciitis 10.7 ACTC1 DES VIM
75 uterine sarcoma 10.6 DES KIT PDGFRB
76 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.6 PDGFRA PDGFRB
77 primitive neuroectodermal tumor of the cervix uteri 10.6 DES ENO2 VIM
78 myopericytoma 10.6 ACTC1 PDGFRB S100B
79 intravascular papillary endothelial hyperplasia 10.6 ACTC1 VIM
80 epulis 10.6 DES ENO2 VIM
81 sternum cancer 10.6 CD34 VIM
82 small intestine leiomyosarcoma 10.6 CD34 KIT
83 embryonal sarcoma 10.6 DES KIT S100B VIM
84 neural crest tumor 10.6 SDHA SDHB SDHC SDHD
85 myoepithelioma 10.6 ACTC1 S100B VIM
86 bednar tumor 10.6 ENO2 S100B VIM
87 von hippel-lindau syndrome 10.6 SDHB SDHC SDHD
88 small intestinal sarcoma 10.6 CD34 KIT
89 persistent generalized lymphadenopathy 10.6 SDHA SDHB SDHC SDHD
90 myofibromatosis, infantile, 1 10.6 ACTC1 PDGFRB
91 hereditary paraganglioma-pheochromocytoma syndromes 10.6 SDHA SDHB SDHC SDHD
92 chordoma 10.6 DES PDGFRA S100B VIM
93 extraskeletal ewing sarcoma 10.6 DES ENO2 VIM
94 plexiform schwannoma 10.6 CD34 ENO2 KIT
95 intracranial cysts 10.6 ENO2 S100B
96 fibrous histiocytoma 10.6 ACTC1 DES VIM
97 lymph node disease 10.6 SDHA SDHB SDHC SDHD
98 adult mesoblastic nephroma 10.6 CD34 NTRK3
99 mitochondrial complex ii deficiency 10.6 SDHA SDHB SDHC SDHD
100 angiomyoma 10.6 CD34 ENO2 KIT
101 syringocystadenoma papilliferum 10.6 ACTC1 DES S100B VIM
102 familial isolated dilated cardiomyopathy 10.6 ACTC1 DES SDHA
103 cowden disease 10.6 SDHB SDHC SDHD
104 pleomorphic liposarcoma 10.6 ACTC1 DES S100B VIM
105 cutaneous fibrous histiocytoma 10.6 ACTC1 DES S100B VIM
106 malignant triton tumor 10.6 DES S100B
107 malignant mesenchymoma 10.6 DES KIT NTRK3
108 gastric leiomyosarcoma 10.6 ENO2 KIT PDGFRA SDHD
109 malignant fibroxanthoma 10.6 ACTC1 DES S100B VIM
110 malignant giant cell tumor of soft parts 10.6 ACTC1 S100B
111 granulosa cell tumor of the ovary 10.6 ACTC1 ENO2 VIM
112 cutaneous ganglioneuroma 10.6 ENO2 KIT
113 cerebral primitive neuroectodermal tumor 10.6 ENO2 S100B VIM
114 botryoid rhabdomyosarcoma 10.6 ACTC1 DES ENO2
115 pleomorphic adenoma 10.6 ACTC1 S100B VIM
116 small cell carcinoma 10.6 ENO2 KIT PDGFRA
117 piebald trait 10.6 KIT KITLG PDGFRA
118 liver angiosarcoma 10.6 CD34 ENO2 VIM
119 optic nerve glioma 10.6 ENO2 S100B VIM
120 mast-cell sarcoma 10.6 KIT VIM
121 infantile myofibromatosis 10.6 ACTC1 DES PDGFRB VIM
122 conventional fibrosarcoma 10.6 CD34 ENO2 KIT PDGFRA
123 cellular neurofibroma 10.6 ABL1 CD34 PDGFRB
124 clear cell ependymoma 10.6 CD34 ENO2 VIM
125 clear cell sarcoma 10.6 ENO2 KIT S100B
126 lung meningioma 10.6 CD34 ENO2
127 liposarcoma 10.6 CD34 DES VIM
128 endocrine gland cancer 10.6 ENO2 SDHB SDHC SDHD
129 epithelioid leiomyosarcoma 10.6 ACTC1 DES ENO2 VIM
130 organ system benign neoplasm 10.6 CD34 ENO2 KIT
131 alveolar soft part sarcoma 10.6 DES ENO2 VIM
132 congenital fibrosarcoma 10.6 ACTC1 DES NTRK3 VIM
133 heart sarcoma 10.6 ENO2 KIT PDGFRA PDGFRB
134 muscle cancer 10.6 CD34 DES ENO2 KIT
135 malignant ectomesenchymoma 10.5 DES ENO2
136 spindle cell carcinoma 10.5 ACTC1 DES ENO2 VIM
137 rhabdoid cancer 10.5 ACTC1 DES ENO2 VIM
138 prostate leiomyosarcoma 10.5 CD34 KIT
139 congenital epulis 10.5 CD34 DES ENO2 VIM
140 teratoma 10.5 ACTC1 ENO2 KIT
141 mast-cell leukemia 10.5 KIT KITLG NTRK3
142 mast cell neoplasm 10.5 KIT KITLG NTRK3
143 systemic mastocytosis 10.5 KIT KITLG PDGFRA PDGFRB
144 primary hepatic neuroendocrine carcinoma 10.5 S100B VIM
145 mast cell disease 10.5 KIT KITLG PDGFRA PDGFRB
146 gastrointestinal system cancer 10.5 CD34 KIT PDGFRA
147 gliosarcoma 10.5 ACTC1 ENO2 S100B VIM
148 myeloproliferative neoplasm 10.5 ABL1 PDGFRA PDGFRB
149 hypereosinophilic syndrome 10.5 ABL1 KIT PDGFRA PDGFRB
150 endometrial stromal sarcoma 10.5 ACTC1 DES KIT PDGFRB VIM
151 connective tissue cancer 10.5 CD34 ENO2 KIT NTRK3
152 polymorphous low-grade adenocarcinoma 10.5 ACTC1 KIT NTRK3 S100B VIM
153 malignant giant cell tumor 10.5 ACTC1 S100B
154 ossifying fibromyxoid tumor 10.5 ACTC1 DES ENO2 S100B VIM
155 spindle cell sarcoma 10.5 ACTC1 DES NTRK3 S100B VIM
156 duodenitis 10.4
157 sm-ahnmd 10.4 KIT PDGFRA
158 cell type cancer 10.4 CD34 ENO2 KIT
159 leukocyte disease 10.4 CD34 KIT KITLG PDGFRA PDGFRB
160 neurilemmoma 10.4 DES ENO2 KIT PDGFRA S100B VIM
161 acute myeloblastic leukemia with maturation 10.4 FLT3 KIT
162 adenocarcinoma 10.4
163 ectomesenchymoma 10.4 DES ENO2
164 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.4 FLT3 KIT
165 polycythemia vera 10.4 ABL1 KIT KITLG PDGFRA PDGFRB
166 pancreatitis 10.3
167 esophagitis 10.3
168 8p11 myeloproliferative syndrome 10.3 FLT3 KIT PDGFRB
169 papillary tumor of the pineal region 10.3 ENO2 VIM
170 chronic myelomonocytic leukemia 10.2 FLT3 KIT PDGFRB
171 intussusception 10.2
172 hepatitis 10.2
173 leukemia 10.2
174 sarcoma 10.2
175 lymphoma 10.1
176 prostatitis 10.1
177 hypoglycemia 10.1
178 myelofibrosis 10.1 CD34 FLT3 KIT PDGFRB
179 peritonitis 10.1
180 myeloid leukemia 10.1
181 epithelioid malignant peripheral nerve sheath tumor 10.1 ENO2 S100B
182 leukemia, acute lymphoblastic 3 10.1 ABL1 FLT3 KITLG PDGFRA
183 chronic eosinophilic leukemia 10.1 ABL1 FLT3 KIT PDGFRA PDGFRB
184 neurofibromatosis, type i 10.1
185 dowling-degos disease 1 10.1
186 somatostatinoma 10.1
187 melanoma 10.1
188 gastric adenocarcinoma 10.1
189 endotheliitis 10.1
190 blood group, i system 10.0
191 neuroendocrine tumor 10.0
192 gastroduodenitis 10.0
193 hematologic cancer 10.0 ABL1 FLT3 KIT KITLG PDGFRB
194 pelvic organ prolapse 9.9
195 mucositis 9.9
196 hepatocellular carcinoma 9.9
197 lentigines 9.9
198 renal cell carcinoma, papillary, 1 9.9
199 gastric cancer 9.9
200 b-cell lymphomas 9.9
201 islet cell tumor 9.9
202 acute pancreatitis 9.9
203 adenoma 9.9
204 mediastinitis 9.9
205 gastric duplication cysts 9.9
206 pancreatic neuroendocrine tumor 9.9
207 hypoxia 9.9
208 bone marrow cancer 9.9 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
209 acute leukemia 9.9 CD34 FLT3 KIT MTHFR
210 hypercalcemia, infantile, 1 9.8
211 meckel diverticulum 9.8
212 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
213 bacteremia 2 9.8
214 crohn's disease 9.8
215 mantle cell lymphoma 9.8
216 familial adenomatous polyposis 9.8
217 colorectal adenocarcinoma 9.8
218 infant gynecomastia 9.8
219 nephrotic syndrome 9.8
220 gynecomastia 9.8
221 hyperinsulinemic hypoglycemia 9.8
222 obstructive jaundice 9.8
223 colon adenocarcinoma 9.8
224 cerebritis 9.8
225 hepatoblastoma 9.8
226 thyroiditis 9.8
227 duodenal somatostatinoma 9.8
228 sarcomatosis 9.8
229 intestinal obstruction 9.8
230 bronchogenic cyst 9.8
231 soft tissue sarcoma 9.8
232 dysphagia 9.8
233 leukemia, acute lymphoblastic 9.8 ABL1 CD34 FLT3 MTHFR
234 acanthosis nigricans 9.7
235 colorectal cancer 9.7
236 lymphoma, mucosa-associated lymphoid type 9.7
237 leiomyoma, uterine 9.7
238 ovarian cancer 9.7
239 multiple endocrine neoplasia, type iia 9.7
240 adrenocortical carcinoma, hereditary 9.7
241 lung cancer 9.7
242 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
243 jejunal atresia 9.7
244 moyamoya disease 1 9.7
245 neuroblastoma 9.7
246 mismatch repair cancer syndrome 9.7
247 aging 9.7
248 suppression of tumorigenicity 12 9.7
249 stroke, ischemic 9.7
250 skin/hair/eye pigmentation, variation in, 3 9.7
251 aneurysmal bone cysts 9.7
252 aural atresia, congenital 9.7
253 ovarian cancer 1 9.7
254 mycobacterium tuberculosis 1 9.7
255 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7
256 mungan syndrome 9.7
257 lung cancer susceptibility 3 9.7
258 episodic pain syndrome, familial, 1 9.7
259 cholangiocarcinoma 9.7
260 polyarteritis nodosa, childhood-onset 9.7
261 angina pectoris 9.7
262 autoimmune hepatitis 9.7
263 congestive heart failure 9.7
264 diffuse large b-cell lymphoma 9.7
265 glomerulonephritis 9.7
266 hydrocephalus 9.7
267 neutropenia 9.7
268 pancreas adenocarcinoma 9.7
269 angiosarcoma 9.7
270 jejunoileitis 9.7
271 ileocolitis 9.7
272 umbilical hernia 9.7
273 microinvasive gastric cancer 9.7
274 strongyloidiasis 9.7
275 arteriovenous malformation 9.7
276 dieulafoy lesion 9.7
277 urticaria pigmentosa 9.7
278 hyperparathyroidism 9.7
279 cholestasis 9.7
280 extrahepatic cholestasis 9.7
281 obstructive hydrocephalus 9.7
282 hypothyroidism 9.7
283 urticaria 9.7
284 lymphadenitis 9.7
285 thyroid cancer 9.7
286 cholecystitis 9.7
287 adenosarcoma 9.7
288 vaginitis 9.7
289 dyspepsia 9.7
290 acromegaly 9.7
291 angiodysplasia 9.7
292 cervicitis 9.7
293 endometrial adenocarcinoma 9.7
294 endometriosis 9.7
295 mucinous adenocarcinoma 9.7
296 lipomatosis 9.7
297 laryngitis 9.7
298 signet ring cell adenocarcinoma 9.7
299 gallbladder adenocarcinoma 9.7
300 retinitis 9.7
301 cutaneous mastocytosis 9.7
302 adrenal cortical adenocarcinoma 9.7
303 gastritis 9.7
304 granulomatous gastritis 9.7
305 amelanotic melanoma 9.7
306 renal clear cell carcinoma 9.7
307 rapidly progressive glomerulonephritis 9.7
308 adenosquamous carcinoma 9.7
309 bile duct adenocarcinoma 9.7
310 intrahepatic cholangiocarcinoma 9.7
311 plexiform neurofibroma 9.7
312 gastrinoma 9.7
313 pancreatic gastrinoma 9.7
314 lymphoepithelioma-like carcinoma 9.7
315 follicular adenoma 9.7
316 gastric cardia carcinoma 9.7
317 prostate stromal sarcoma 9.7
318 situs inversus 9.7
319 neuronitis 9.7
320 appendicitis 9.7
321 polycythemia 9.7
322 intestinal volvulus 9.7
323 neuropathy 9.7
324 rosacea 9.7
325 amyloidosis 9.7
326 emphysematous cholecystitis 9.7
327 hydrocele 9.7
328 hemophilia 9.7
329 acquired hemophilia 9.7
330 clear cell renal cell carcinoma 9.7
331 lentigo maligna melanoma 9.7
332 streptococcal group a invasive disease 9.7
333 undifferentiated pleomorphic sarcoma 9.7
334 multiple endocrine neoplasia 9.7
335 aneurysm 9.7
336 igg4-related mesenteritis 9.7
337 osteoclastic giant cell tumor of pancreas 9.7
338 familial progressive hyperpigmentation 9.7
339 refractory anemia 9.7
340 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:

53
Abdomen Gastroin testinal:
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:

55 31 (showing 22, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
3 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
4 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
5 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
6 intestinal obstruction 55 31 frequent (33%) Frequent (79-30%) HP:0005214
7 irregular hyperpigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007400
8 sarcoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0100242
9 gastrointestinal hemorrhage 55 31 frequent (33%) Frequent (79-30%) HP:0002239
10 skin rash 55 31 occasional (7.5%) Occasional (29-5%) HP:0000988
11 neoplasm of the colon 55 31 occasional (7.5%) Occasional (29-5%) HP:0100273
12 neoplasm of the rectum 55 31 occasional (7.5%) Occasional (29-5%) HP:0100743
13 esophageal neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100751
14 neoplasm of the small intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0100833
15 abnormality of the liver 55 31 occasional (7.5%) Occasional (29-5%) HP:0001392
16 neoplasm of the stomach 55 31 hallmark (90%) Very frequent (99-80%) HP:0006753
17 gastrointestinal stroma tumor 55 31 hallmark (90%) Very frequent (99-80%) HP:0100723
18 urticaria 31 HP:0001025
19 large hands 31 HP:0001176
20 neoplasm of the gastrointestinal tract 55 Occasional (29-5%)
21 hyperpigmentation of the skin 31 HP:0000953
22 neurofibromas 31 HP:0001067

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

25 (showing 45, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.77 PRKCQ
2 Decreased viability GR00173-A 10.77 FLT3 PRKCQ PDGFRA
3 Decreased viability GR00221-A-1 10.77 ABL1 FLT3 KIT SDHD PRKCQ PDGFRA
4 Decreased viability GR00221-A-2 10.77 ABL1 SDHD PRKCQ NTRK3
5 Decreased viability GR00221-A-3 10.77 ABL1 PRKCQ PDGFRA PDGFRB
6 Decreased viability GR00221-A-4 10.77 FLT3 SDHD PRKCQ PDGFRA PDGFRB NTRK3
7 Decreased viability GR00301-A 10.77 KIT
8 Decreased viability GR00342-S-1 10.77 ABL1 PDGFRB
9 Decreased viability GR00342-S-2 10.77 ABL1
10 Decreased viability GR00342-S-3 10.77 ABL1
11 Decreased viability GR00381-A-1 10.77 SDHD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.24 ABL1 S100B PRKCQ
13 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.24 KIT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.24 ABL1 VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.24 ABL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.24 NTRK3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.24 NTRK3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.24 VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.24 ABL1 PRKCQ
20 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.24 KIT NTRK3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.24 KIT ABL1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.24 PRKCQ
23 Increased shRNA abundance (Z-score > 2) GR00366-A-170 10.24 KIT
24 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.24 VIM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.24 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.24 VIM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.24 VIM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.24 VIM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.24 ABL1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.24 ABL1 KIT VIM NTRK3
31 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.24 NTRK3
32 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.24 KIT NTRK3
33 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.24 ABL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.24 ABL1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.24 S100B VIM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.24 PRKCQ
37 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.24 ABL1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.24 KIT ABL1 S100B VIM PRKCQ NTRK3
39 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.24 KIT PRKCQ
40 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.24 KIT
41 Decreased substrate adherent cell growth GR00193-A-1 9.8 KIT
42 Decreased substrate adherent cell growth GR00193-A-2 9.8 ABL1 KIT
43 Decreased substrate adherent cell growth GR00193-A-4 9.8 ABL1 FLT3 KIT
44 Increased cell viability after pRB stimulation GR00230-A-1 9.46 ABL1 KIT PRKCQ PDGFRB
45 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 9.13 KIT FLT3 PRKCQ

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

43 (showing 14, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 CD34 KIT DES ENO2 ABL1 ETV1
2 homeostasis/metabolism MP:0005376 10.36 CD34 KIT DES ABL1 FLT3 ACTC1
3 mortality/aging MP:0010768 10.33 KIT DES ABL1 ETV1 FLT3 ACTC1
4 cardiovascular system MP:0005385 10.3 ACTC1 KIT DES ABL1 PDGFRB NTRK3
5 growth/size/body region MP:0005378 10.29 FLT3 ACTC1 ENO2 ABL1 ETV1 MTHFR
6 behavior/neurological MP:0005386 10.28 DES ENO2 ABL1 ETV1 PDGFRB NTRK3
7 hematopoietic system MP:0005397 10.23 FLT3 CD34 KIT ABL1 PDGFRB PDGFRA
8 endocrine/exocrine gland MP:0005379 10.15 FLT3 ABL1 PDGFRB KIT PDGFRA KITLG
9 nervous system MP:0003631 10.03 ENO2 ABL1 ETV1 MTHFR PDGFRB NTRK3
10 muscle MP:0005369 10.02 ACTC1 KIT DES ABL1 ETV1 PDGFRB
11 neoplasm MP:0002006 9.92 CD34 KIT FLT3 PDGFRA KITLG SDHB
12 no phenotypic analysis MP:0003012 9.7 FLT3 MTHFR NTRK3 KIT PDGFRA SDHB
13 normal MP:0002873 9.65 ACTC1 KIT ABL1 ETV1 PDGFRB NTRK3
14 vision/eye MP:0005391 9.23 ABL1 MTHFR PDGFRB NTRK3 KIT KITLG

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

(showing 4, show less)
# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Gleevec 17 45 IMATINIB MESYLATE Novartis May 2001
2
Stivarga 17 45 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
3
Sutent 17 45 SUNITINIB MALATE Pfizer May 2011/ January 2006
4
Votrient 17 45 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009

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

(showing 168, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 4,Phase 1 61825-94-3 43805 6857599 5310940 9887054
2
Sunitinib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 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 46835353 6436030 5284616
5
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
6
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 9579578 4594
7
Caffeine Approved, Nutraceutical Phase 4 58-08-2 2519
8 Angiogenesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
9 Angiogenesis Modulating Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
11 Imatinib Mesylate Phase 4,Phase 3,Phase 2,Phase 1 123596
12 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
13 Anesthetics Phase 4,Phase 3,Phase 1
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
36
Bevacizumab Approved, Investigational Phase 3,Phase 2,Phase 1 216974-75-3
37
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
38
Dasatinib Approved, Investigational Phase 3,Phase 2,Phase 1 302962-49-8 3062316
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 tyrosine Nutraceutical Phase 3,Phase 2,Phase 1
57 carnitine Nutraceutical Phase 3
58
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
59
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
60
Cisplatin Approved Phase 2,Phase 1 15663-27-1 2767 441203 84093
61
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
62
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
63
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
64
ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
65
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
66
Xylometazoline Approved, Investigational Phase 2 526-36-3 5709
67
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
68
Gemcitabine Approved Phase 2,Phase 1 95058-81-4 60750
69
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
70
Floxuridine Approved Phase 2,Phase 1 50-91-9 5790
71
Octreotide Approved, Investigational Phase 2 83150-76-9 6400441 383414
72
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
73
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
74
nivolumab Approved Phase 2 946414-94-4
75
Iron Approved Phase 2 7439-89-6 23925
76
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
77
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
78
Dabrafenib Approved, Investigational Phase 2 44462760 44516822
79
Trametinib Approved Phase 2 871700-17-3 11707110
80
Palbociclib Approved, Investigational Phase 2 571190-30-2 5330286 11431660 5005498
81
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
82
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 59-30-3 6037
83
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
84
Nicotinamide Approved, Investigational, Nutraceutical Phase 2 98-92-0 936
85
Docetaxel Approved May 1996, Investigational Phase 2,Phase 1 114977-28-5 148124 9877265
86
Cediranib Investigational Phase 2 288383-20-0 9933475
87
Vatalanib Investigational Phase 2 212141-54-3 151194
88
Camptothecin Experimental Phase 2,Phase 1 7689-03-4
89
Doxil Approved June 1999 Phase 1, Phase 2 31703
90 Antimetabolites Phase 2,Phase 1
91 Antimetabolites, Antineoplastic Phase 2,Phase 1
92 Antimitotic Agents Phase 2,Phase 1
93 Micronutrients Phase 2,Phase 1
94 Nicotinic Acids Phase 2
95 Trace Elements Phase 2,Phase 1
96 Vitamin B Complex Phase 2,Phase 1
97 Vitamins Phase 2,Phase 1
98 Alkylating Agents Phase 2,Phase 1
99 Deoxyglucose Phase 2
100 Anti-Bacterial Agents Phase 1, Phase 2
101 Antibiotics, Antitubercular Phase 1, Phase 2
102 Antifungal Agents Phase 1, Phase 2
103 Anti-Infective Agents Phase 1, Phase 2
104 PONATINIB  Phase 2
105 Albumin-Bound Paclitaxel Phase 2,Phase 1
106 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
107 Fluorodeoxyglucose F18 Phase 2
108 Hormones Phase 2,Phase 1
109 Antiviral Agents Phase 2,Phase 1
110 Semaxinib Phase 2
111 Rubitecan Phase 2
112 topoisomerase I inhibitors Phase 2,Phase 1
113 Topoisomerase Inhibitors Phase 2,Phase 1
114 Antineoplastic Agents, Hormonal Phase 2
115 Ferric Compounds Phase 2
116 Hematinics Phase 2,Phase 1
117 interferons Phase 2
118 Cathartics Phase 2
119 Laxatives Phase 2
120 Radiopharmaceuticals Phase 1, Phase 2
121 Folate Nutraceutical Phase 2,Phase 1
122 Vitamin B3 Nutraceutical Phase 2
123 Vitamin B9 Nutraceutical Phase 2,Phase 1
124 Iron Supplement Nutraceutical Phase 2
125
Ketoconazole Approved, Investigational Phase 1 65277-42-1 3823 47576
126
Fluorouracil Approved Phase 1 51-21-8 3385
127
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
128
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
129
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
130
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
131
Warfarin Approved Phase 1 81-81-2 54678486 6691
132
Cocaine Approved, Illicit Phase 1 50-36-2 446220 5760
133
leucovorin Approved, Nutraceutical Phase 1 58-05-9 143 6006
134
Menadione Approved, Nutraceutical Phase 1 58-27-5 4055
135
Phytonadione Approved, Investigational, Nutraceutical Phase 1 84-80-0 5284607 4812
136
Alvocidib Experimental, Investigational Phase 1 146426-40-6, 131740-09-5 5287969
137
7-hydroxystaurosporine Experimental, Investigational Phase 1 112953-11-4 72271
138 Staurosporine Experimental Phase 1 62996-74-1
139 Vaccines Phase 1
140 Cytochrome P-450 CYP3A Inhibitors Phase 1
141 Cytochrome P-450 Enzyme Inhibitors Phase 1
142 Hormone Antagonists Phase 1
143 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
144 Steroid Synthesis Inhibitors Phase 1
145 Antidotes Phase 1
146 Protective Agents Phase 1
147 Antirheumatic Agents Phase 1
148 Antibodies, Bispecific Phase 1
149 Anticoagulants Phase 1
150 Antifibrinolytic Agents Phase 1
151 Coagulants Phase 1
152 Hemostatics Phase 1
153 Inositol Nutraceutical Phase 1
154 glutamine Nutraceutical Phase 1
155 Menaquinone Nutraceutical Phase 1
156 naphthoquinone Nutraceutical Phase 1
157 Vitamin K Nutraceutical Phase 1
158
Hydroxyurea Approved 127-07-1 3657
159
Axitinib Approved, Investigational 319460-85-0 6450551
160
Pancrelipase Approved, Investigational 53608-75-6
161
Imidacloprid Vet_approved 105827-78-9 86418
162 Etanidazole Investigational 22668-01-5
163
Motexafin lutetium Investigational 246252-04-0
164 pancreatin
165 Dermatologic Agents
166 Photosensitizing Agents
167 arginine Nutraceutical
168 Omega 3 Fatty Acid Nutraceutical

Interventional clinical trials:

(showing 263, 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 (GIST) Completed NCT00171977 Phase 4 Imatinib Mesylate
5 Treatment of Patients With Everolimus and Imatinib Mesylate Who Have Progressive Gastro Intestinal Stromal Tumors (GIST) and Are Resistant to Imatinib Mesylate Completed NCT00510354 Phase 4 Imatinib mesylate
6 Cytochrom p450 3A4 and 1A2 Phenotyping for the Individualization of Treatment With Sunitinib or Erlotinib in Cancer Patients Completed NCT01402089 Phase 4 Sunitinib;Erlotinib;Midazolam;Caffeine
7 The Effects of the Proton Pump Inhibitor Esomeprazole on the Bioavailability of Regorafenib Recruiting