MCID: GST019
MIFTS: 74

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 54 12 24 25 56 71 29 13 52 14
Gist 12 50 24 25 56 71
Gastrointestinal Stromal Sarcoma 50 25 56 69
Gastrointestinal Stromal Tumors 50 42 69
Paraganglioma and Gastric Stromal Sarcoma 69
Gastrointestinal Stromal Tumor, Familial 54
Gastrointestinal Stromal Tumor, Somatic 54
Stromal Tumor of Gastrointestinal Tract 12
Gastrointestinal Stromal Neoplasm 25
Plexosarcoma 69
Gant 12

Characteristics:

Orphanet epidemiological data:

56
gastrointestinal stromal tumor
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Sweden); Age of onset: Adolescent,Adult,Childhood;

OMIM:

54
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

OMIM : 54
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)

MalaCards based summary : Gastrointestinal Stromal Tumor, also known as gist, is related to paraganglioma and gastric stromal sarcoma and paraganglioma, and has symptoms including dysphagia, anemia and fatigue. 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 cellular

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).

NIH Rare Diseases : 50 gastrointestinal stromal tumors are a type of soft tissue sarcoma (tumor) that usually begins in cells in the wall of the stomach, intestines, or rectum. these tumors may be noncancerous or cancerous. they can affect adults, adolescents, or children.  it is estimated that around 5,000 new cases of gastrointestinal stromal tumors are diagnosed in the united states each year. last updated: 4/27/2010

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 331, show less)
id Related Disease Score Top Affiliating Genes
1 paraganglioma and gastric stromal sarcoma 34.1 SDHB SDHC SDHD
2 paraganglioma 31.5 SDHB SDHC SDHD
3 glomus tumor 31.0 ENO2 KIT
4 desmoplastic small round cell tumor 30.9 KIT PDGFRA PDGFRB
5 pheochromocytoma 30.9 ENO2 SDHA SDHB SDHC SDHD
6 glomangioma 30.3 ACTC1 DES ENO2 SDHB SDHD VIM
7 adenosarcoma 29.8 ACTC1 DES ENO2 KIT PDGFRA PDGFRB
8 carney triad 11.3
9 desmoid tumor 11.3
10 2q31.1 microdeletion syndrome 11.1 ENO2 VIM
11 appendix leiomyoma 11.1 CD34 KIT
12 small intestine leiomyosarcoma 11.1 CD34 KIT
13 lymphocytic hypophysitis 11.1 ACTC1 VIM
14 carcinoid tumors, intestinal 11.1 SDHB SDHC SDHD
15 infantile scoliosis 11.1 DES VIM
16 rete ovarii cystadenoma 11.1 SDHB SDHC SDHD
17 dedifferentiated liposarcoma 11.1 KIT PDGFRA S100B
18 liver inflammatory pseudotumor 11.1 CD34 KIT
19 marfanoid habitus-inguinal hernia-advanced bone age syndrome 11.1 ACTC1 DES KIT
20 uterine corpus endometrial carcinoma 11.1 SDHB SDHC SDHD
21 mannose-binding lectin protein deficiency 11.0 DES KIT VIM
22 immune-mediated encephalomyelitis 11.0 S100B VIM
23 primary oculocerebral lymphoma 11.0 SDHB SDHC SDHD
24 liver angiosarcoma 11.0 ACTC1 DES KIT
25 rectal neoplasm 11.0 DES KIT VIM
26 primary bone lymphoma 11.0 PDGFRA PDGFRB
27 testis rhabdomyosarcoma 11.0 CD34 DES KIT
28 aortic aneurysm 11.0 ACTC1 DES VIM
29 anus leiomyoma 11.0 CD34 KIT
30 esophagus leiomyosarcoma 11.0 ACTC1 DES VIM
31 myoepithelial carcinoma 11.0 DES KIT VIM
32 telo2-related intellectual disability-neurodevelopmental disorder 11.0 ACTC1 DES
33 laryngeal neuroendocrine tumor 11.0 ACTC1 DES VIM
34 uniparental disomy of chromosome 11 11.0 ACTC1 DES VIM
35 berk-tabatznik syndrome 11.0 ACTC1 DES VIM
36 fibrosarcoma of bone 11.0 CD34 KIT PDGFRA
37 malignant breast melanoma 11.0 KIT S100B VIM
38 wilms tumor 6 11.0 KIT PDGFRA PDGFRB
39 prostate disease 11.0 KIT S100B VIM
40 small intestine neuroendocrine neoplasm 11.0 DES S100B VIM
41 vulvar squamous papilloma 11.0 DES S100B VIM
42 short-rib thoracic dysplasia 12 11.0 ACTC1 DES VIM
43 gastric signet ring cell adenocarcinoma 11.0 ACTC1 CD34 VIM
44 nephrogenic adenoma of urinary bladder 11.0 ACTC1 DES VIM
45 pediatric supratentorial ependymoma 11.0 SDHB SDHC SDHD
46 papillary glioneuronal tumor 11.0 ACTC1 S100B VIM
47 filamentary keratitis 11.0 CD34 KIT
48 thymus small cell carcinoma 11.0 ENO2 KIT PDGFRA
49 neurofibroma of the esophagus 11.0 ACTC1 CD34 DES
50 pulmonary venoocclusive disease 11.0 ACTC1 S100B VIM
51 gangliosidosis gm2 11.0 ACTC1 DES KIT
52 lymphocytic infiltrate of jessner 11.0 DES VIM
53 lung leiomyosarcoma 11.0 ENO2 KIT PDGFRA
54 punctate palmoplantar keratoderma type 2 11.0 ACTC1 DES KIT PDGFRA
55 angelman syndrome due to imprinting defect in 15q11-q13 11.0 ACTC1 DES VIM
56 dense deposit disease 10.9 ACTC1 S100B VIM
57 extraosseous osteosarcoma 10.9 KIT PDGFRA PDGFRB
58 esophagus leiomyoma 10.9 ACTC1 DES VIM
59 iridogoniodysgenesis and skeletal anomalies 10.9 ACTC1 VIM
60 myeloid neoplasms associated with pdgfrb rearrangement 10.9 PDGFRA PDGFRB
61 intellectual disability-polydactyly-uncombable hair syndrome 10.9 DES ENO2 VIM
62 serous surface papilloma 10.9 ACTC1 SDHB SDHC SDHD
63 inner ear cancer 10.9 CD34 VIM
64 vagina, absence of 10.9 DES KIT PDGFRB
65 pineal region yolk sac tumor 10.9 DES ENO2 VIM
66 malignant dermis tumor 10.9 CD34 KIT
67 sebaceous adenoma 10.9 ACTC1 DES KIT VIM
68 large cell acanthoma 10.9 ACTC1 DES KIT VIM
69 gallbladder leiomyosarcoma 10.9 CD34 KIT
70 neurogenic hypertension 10.9 SDHA SDHB SDHC SDHD
71 benallegue lacete syndrome 10.9 ENO2 S100B VIM
72 erythrocytosis, familial, 2 10.9 SDHB SDHC SDHD
73 meningitis and encephalitis 10.9 ENO2 S100B
74 premature aging syndrome, penttinen type 10.9 ACTC1 PDGFRB
75 fibula aplasia complex brachydactyly 10.9 ACTC1 DES KIT VIM
76 plexosarcoma 10.9
77 enamel hypoplasia cataract hydrocephaly 10.9 DES KIT S100B VIM
78 lung abscess 10.9 SDHA SDHB SDHC SDHD
79 demyelinating disease 10.9 CD34 ENO2 KIT
80 hidrotic ectodermal dysplasia 2 10.9 SDHA SDHB SDHC SDHD
81 spondyloepimetaphyseal dysplasia, isidor type 10.9 DES ENO2 VIM
82 malignant adenofibroma 10.9 ACTC1 DES VIM
83 glycogen storage disease ib 10.9 SDHA SDHB SDHC SDHD
84 encephalitozoonosis 10.9 CD34 ENO2 KIT
85 residual stage corticosteroid-induced glaucoma 10.9 SDHA SDHB SDHC SDHD
86 spermatogenic failure 13 10.9 DES KIT VIM
87 viral encephalitis 10.9 SDHB SDHC SDHD
88 spleen cancer 10.9 DES S100B
89 intracystic papillary adenoma 10.9 CD34 NTRK3
90 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.9 ACTC1 DES SDHA
91 localized pulmonary fibrosis 10.9 ACTC1 S100B
92 spleen angiosarcoma 10.9 ACTC1 DES S100B VIM
93 group b strep disease in newborns 10.9 ACTC1 ENO2 VIM
94 spindle cell liposarcoma 10.9 ACTC1 DES S100B VIM
95 retroperitoneal leiomyosarcoma 10.9 ENO2 KIT PDGFRA SDHD
96 preretinal fibrosis 10.9 ACTC1 DES VIM
97 periventricular nodular heterotopia 6 10.9 DES PDGFRA S100B VIM
98 juvenile xanthogranuloma 10.9 ACTC1 DES S100B VIM
99 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 10.9 FLT3 KIT
100 patent ductus arteriosus and bicuspid aortic valve with hand anomalies 10.9 ACTC1 DES S100B VIM
101 lung clear cell-sugar-tumor 10.9 DES KIT NTRK3
102 skin lipoma 10.9 ACTC1 CD34 DES VIM
103 peritoneal benign neoplasm 10.9 CD34 ENO2 KIT
104 vulvar keratoacanthoma-like carcinoma 10.9 ENO2 S100B VIM
105 ischemia 10.9 ACTC1 DES ENO2
106 brachyolmia 10.9 ENO2 KIT PDGFRA
107 ovarian large-cell neuroendocrine carcinoma 10.9 ENO2 KIT PDGFRA
108 superior vena cava angiosarcoma 10.9 ACTC1 S100B VIM
109 periventricular nodular heterotopia 3 10.9 KIT KITLG PDGFRA
110 juvenile nasopharyngeal angiofibroma 10.9 ACTC1 S100B
111 kidney sarcoma 10.9 ENO2 KIT S100B
112 small cell neuroendocrine carcinoma 10.9 ACTC1 CD34 DES VIM
113 ossifying fibromyxoid tumor 10.9 CD34 ENO2 VIM
114 neurofibromatosis, familial spinal 10.9 KIT PDGFRA SDHB SDHC SDHD
115 cervical adenomyoma 10.9 ENO2 S100B VIM
116 verruciform xanthoma of skin 10.9 CD34 ENO2
117 brain stem infarction 10.8 CD34 ENO2 KIT PDGFRA
118 vestibular gland benign neoplasm 10.8 CD34 ENO2 KIT
119 multiple mitochondrial dysfunctions syndrome 2 10.8 ACTC1 DES PDGFRB VIM
120 toxic pneumonitis 10.8 CD34 ENO2 VIM
121 accessory nerve disease 10.8 CD34 DES VIM
122 benign shuddering attacks 10.8 ENO2 SDHB SDHC SDHD
123 pseudomyxoma peritonei 10.8 KIT VIM
124 multiple mucosal neuroma 10.8 ABL1 CD34 PDGFRB
125 46xy sex reversal 5 10.8 DES ENO2 VIM
126 myxoid leiomyosarcoma 10.8 ACTC1 DES ENO2 VIM
127 malignant hyperthermia susceptibility type 3 10.8 DES ENO2
128 mediastinum rhabdomyosarcoma 10.8 CD34 DES ENO2 KIT
129 skin glomus tumor 10.8 DES ENO2 S100B VIM
130 linitis plastica 10.8 ACTC1 DES ENO2 VIM
131 cerebrum cancer 10.8 ACTC1 DES ENO2 VIM
132 follicular infundibulum tumor 10.8 ACTC1 DES NTRK3 VIM
133 hemangioma of liver 10.8 ACTC1 S100B
134 central nervous system disease 10.8 ACTC1 ENO2 KIT
135 mucin-rich endometrial endometrioid adenocarcinoma 10.8 CD34 DES ENO2 VIM
136 mixed extragonadal germ cell cancer 10.8 ACTC1 DES KIT S100B VIM
137 breast leiomyosarcoma 10.8 CD34 KIT
138 histidine metabolism disease 10.8 KIT KITLG NTRK3
139 grade iii astrocytoma 10.8 ACTC1 ENO2 S100B VIM
140 gallbladder cancer 10.8 CD34 KIT PDGFRA
141 temporal lobe epilepsy 10.8 KIT KITLG PDGFRA PDGFRB
142 olfactory nerve disease 10.8 KIT KITLG NTRK3
143 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.8 KIT KITLG PDGFRA PDGFRB
144 focal epilepsy 10.7 ABL1 PDGFRA PDGFRB
145 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 10.7 FLT3 KIT
146 kidney hypertrophy 10.7 CD34 KIT KITLG S100B
147 18p deletion syndrome 10.7 ABL1 KIT PDGFRA PDGFRB
148 neurogenic thoracic outlet syndrome 10.7 S100B VIM
149 histiocytoma 10.7 ACTC1 DES KIT PDGFRB VIM
150 movement disease 10.7 KIT PDGFRA
151 mercaptolactate-cysteine disulfiduria 10.7 KIT PDGFRA SDHA SDHB SDHC SDHD
152 opitz-gbbb syndrome 10.7 ENO2 SDHA SDHB SDHC SDHD
153 autoimmune lymphoproliferative syndrome 10.7 CD34 PDGFRB S100B VIM
154 gestational choriocarcinoma 10.7 CD34 ENO2 KIT NTRK3
155 myoma 10.7 ACTC1 DES ENO2 S100B VIM
156 polyosteolysis/hyperostosis syndrome 10.7 ACTC1 KIT NTRK3 S100B VIM
157 dextrocardia with situs inversus 10.7 ACTC1 DES ENO2 S100B VIM
158 black piedra 10.7 ACTC1 CD34 DES
159 hyperpituitarism 10.7 ACTC1 CD34 DES ENO2 VIM
160 coronary restenosis 10.7 ACTC1 DES NTRK3 S100B VIM
161 ovary rhabdomyosarcoma 10.6 DES ENO2
162 brown-vialetto-van laere syndrome 10.6 CD34 ENO2 KIT
163 bladder urachal squamous cell carcinoma 10.6 ACTC1 CD34 KIT PDGFRA S100B VIM
164 benign mammary dysplasia 10.6 CD34 KIT KITLG PDGFRA PDGFRB
165 cask-related intellectual disability 10.6 FLT3 KIT PDGFRB
166 hypoglossal nerve neoplasm 10.6 DES ENO2 KIT PDGFRA S100B VIM
167 sparse hair-short stature-skin anomalies syndrome 10.6 DES S100B
168 chronic venous leg ulcers 10.6 FLT3 KIT PDGFRB
169 neutrophil immunodeficiency syndrome 10.5 ACTC1 CD34 DES PDGFRB S100B VIM
170 mucinous ovarian cystadenoma 10.5 DES S100B
171 myelofibrosis with myeloid metaplasia, somatic 10.4 ABL1 CD34 FLT3 KIT
172 duodenitis 10.4
173 preeclampsia/eclampsia 3 10.3 ABL1 FLT3 KITLG PDGFRA
174 alopecia antibody deficiency 10.3 ABL1 FLT3 KIT PDGFRA PDGFRB
175 adenocarcinoma 10.3
176 thrombocythemia 3 10.3 FLT3 KIT KITLG PDGFRA PDGFRB
177 pancreatitis 10.3
178 leiomyoma 10.2
179 esophagitis 10.2
180 neurofibromatosis, type 1 10.2
181 enteric pattern testicular yolk sac tumor 10.2 ENO2 S100B
182 leukemia, acute myeloid 10.2 CD34 FLT3 KIT KITLG PDGFRB
183 hemolytic anemia 10.2 ABL1 FLT3 KIT KITLG PDGFRB
184 leiomyosarcoma 10.1
185 meckel's diverticulum 10.1
186 hepatitis 10.1
187 leukemia 10.1
188 cranioectodermal dysplasia 1 10.1 ABL1 CD34 FLT3 KIT KITLG
189 intussusception 10.1
190 acute lymphoblastic leukemia, childhood 10.1 CD34 FLT3 KIT MTHFR
191 fibromatosis 10.1
192 sarcoma 10.1
193 nelson syndrome 10.1 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
194 bernard-soulier syndrome, type c 10.1 ENO2 FLT3 KIT PDGFRB SDHB SDHD
195 lymphoma 10.1
196 hypoglycemia 10.1
197 prostatitis 10.1
198 myeloid leukemia 10.0
199 peritonitis 10.0
200 kala-azar 1 10.0 DES ENO2 ETV1 KIT KITLG PDGFRA
201 somatostatinoma 10.0
202 endotheliitis 10.0
203 gastric adenocarcinoma 10.0
204 melanoma 10.0
205 renal cell carcinoma 10.0
206 neuroendocrine tumor 9.9
207 peroxisome biogenesis disorder 7a 9.9 ABL1 CD34 FLT3 KIT KITLG PDGFRA
208 gastric duplication cysts 9.9
209 acute pancreatitis 9.9
210 pancreatic neuroendocrine tumor 9.9
211 b-cell lymphomas 9.9
212 hepatocellular carcinoma 9.9
213 neurofibroma 9.9
214 mediastinitis 9.9
215 hypoxia 9.9
216 islet cell tumor 9.9
217 adenoma 9.9
218 gastroduodenitis 9.9
219 rectal prolapse 9.8
220 mucositis 9.8
221 hepatoblastoma 9.8
222 familial adenomatous polyposis 9.8
223 thyroiditis 9.8
224 gynecomastia 9.8
225 duodenal somatostatinoma 9.8
226 colorectal adenocarcinoma 9.8
227 hyperinsulinemic hypoglycemia 9.8
228 sarcomatosis 9.8
229 colon adenocarcinoma 9.8
230 crohn's disease 9.8
231 granular cell tumor 9.8
232 cerebritis 9.8
233 bacteremia 9.8
234 obstructive jaundice 9.8
235 dysphagia 9.8
236 intestinal obstruction 9.8
237 malignant peripheral nerve sheath tumor 9.8
238 bronchogenic cyst 9.8
239 mantle cell lymphoma 9.8
240 nephrotic syndrome 9.8
241 perivascular epithelioid cell tumor 9.8
242 jejunal atresia 9.6
243 dieulafoy lesion 9.6
244 endometrial adenocarcinoma 9.6
245 granulomatous gastritis 9.6
246 angiosarcoma 9.6
247 urticaria pigmentosa 9.6
248 cholecystitis 9.6
249 endometriosis 9.6
250 smooth muscle tumor 9.6
251 prostate stromal sarcoma 9.6
252 neuropathy 9.6
253 angina pectoris 9.6
254 hiatus hernia 9.6
255 renal clear cell carcinoma 9.6
256 rosacea 9.6
257 lentigo maligna melanoma 9.6
258 neuroblastoma 9.6
259 acne 9.6
260 perineurioma 9.6
261 amyloidosis 9.6
262 colorectal cancer 9.6
263 autoimmune hepatitis 9.6
264 vaginitis 9.6
265 mucinous adenocarcinoma 9.6
266 rapidly progressive glomerulonephritis 9.6
267 situs inversus 9.6
268 lung cancer 9.6
269 inflammatory myofibroblastic tumor 9.6
270 dyspepsia 9.6
271 acanthosis nigricans 9.6
272 adenosquamous carcinoma 9.6
273 soft tissue sarcoma 9.6
274 congestive heart failure 9.6
275 hyperparathyroidism 9.6
276 lipomatosis 9.6
277 intrahepatic cholangiocarcinoma 9.6
278 neuronitis 9.6
279 undifferentiated pleomorphic sarcoma 9.6
280 breast cancer 9.6
281 jejunoileitis 9.6
282 cholestasis 9.6
283 emphysematous cholecystitis 9.6
284 multiple endocrine neoplasia 9.6
285 diffuse large b-cell lymphoma 9.6
286 ileocolitis 9.6
287 laryngitis 9.6
288 plexiform neurofibroma 9.6
289 hydrocele 9.6
290 aneurysm 9.6
291 glomerulonephritis 9.6
292 umbilical hernia 9.6
293 extrahepatic cholestasis 9.6
294 signet ring cell adenocarcinoma 9.6
295 gastrinoma 9.6
296 appendicitis 9.6
297 myelodysplastic syndrome 9.6
298 obstructive hydrocephalus 9.6
299 acromegaly 9.6
300 gallbladder adenocarcinoma 9.6
301 pancreatic gastrinoma 9.6
302 polycythemia 9.6
303 hemophilia 9.6
304 aneurysmal bone cysts 9.6
305 hydrocephalus 9.6
306 strongyloidiasis 9.6
307 angiodysplasia 9.6
308 retinitis 9.6
309 lymphoepithelioma-like carcinoma 9.6
310 acquired hemophilia 9.6
311 urticaria 9.6
312 prostate adenocarcinoma 9.6
313 cutaneous mastocytosis 9.6
314 intestinal volvulus 9.6
315 familial progressive hyperpigmentation 9.6
316 ewing sarcoma 9.6
317 arteriovenous malformation 9.6
318 lymphadenitis 9.6
319 cervicitis 9.6
320 follicular adenoma 9.6
321 clear cell renal cell carcinoma 9.6
322 refractory anemia 9.6
323 dermatofibrosarcoma protuberans 9.6
324 chondroma 9.6
325 tuberculosis 9.6
326 gastric cardia carcinoma 9.6
327 intravascular large b-cell lymphoma 9.6
328 moyamoya disease 9.6
329 neutropenia 9.6
330 thyroid cancer 9.6
331 gastritis 9.6

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:

54

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:

56 32 (showing 22, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
2 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
3 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
4 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
5 intestinal obstruction 56 32 frequent (33%) Frequent (79-30%) HP:0005214
6 skin rash 56 32 occasional (7.5%) Occasional (29-5%) HP:0000988
7 sarcoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0100242
8 gastrointestinal hemorrhage 56 32 frequent (33%) Frequent (79-30%) HP:0002239
9 nausea and vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002017
10 irregular hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007400
11 neoplasm of the colon 56 32 occasional (7.5%) Occasional (29-5%) HP:0100273
12 neoplasm of the rectum 56 32 occasional (7.5%) Occasional (29-5%) HP:0100743
13 esophageal neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0100751
14 neoplasm of the small intestine 56 32 occasional (7.5%) Occasional (29-5%) HP:0100833
15 abnormality of the liver 56 32 occasional (7.5%) Occasional (29-5%) HP:0001392
16 neoplasm of the stomach 56 32 hallmark (90%) Very frequent (99-80%) HP:0006753
17 gastrointestinal stroma tumor 56 32 hallmark (90%) Very frequent (99-80%) HP:0100723
18 urticaria 32 HP:0001025
19 large hands 32 HP:0001176
20 neurofibromas 32 HP:0001067
21 neoplasm of the gastrointestinal tract 56 Occasional (29-5%)
22 hyperpigmentation of the skin 32 HP:0000953

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.77 PRKCQ
2 Decreased viability GR00173-A 10.77 PRKCQ FLT3 PDGFRA
3 Decreased viability GR00221-A-1 10.77 PDGFRA FLT3 KIT PDGFRB PRKCQ SDHD
4 Decreased viability GR00221-A-2 10.77 ABL1 NTRK3 PRKCQ SDHD
5 Decreased viability GR00221-A-3 10.77 PRKCQ ABL1 PDGFRA PDGFRB
6 Decreased viability GR00221-A-4 10.77 FLT3 NTRK3 PDGFRA PDGFRB PRKCQ SDHD
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 PRKCQ S100B
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 ABL1 KIT
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 KIT NTRK3 VIM ABL1
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 VIM S100B
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 NTRK3 ABL1 VIM KIT PRKCQ S100B
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 KIT ABL1 FLT3
44 Increased cell viability after pRB stimulation GR00230-A-1 9.46 ABL1 KIT PDGFRB PRKCQ
45 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 9.13 FLT3 KIT PRKCQ

MGI Mouse Phenotypes related to Gastrointestinal Stromal Tumor:

44 (showing 12, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 VIM ABL1 ACTC1 CD34 DES ENO2
2 mortality/aging MP:0010768 10.3 ACTC1 DES ETV1 FLT3 KIT KITLG
3 homeostasis/metabolism MP:0005376 10.28 ABL1 ACTC1 CD34 DES FLT3 KIT
4 cardiovascular system MP:0005385 10.27 ABL1 ACTC1 DES KIT KITLG NTRK3
5 behavior/neurological MP:0005386 10.25 ENO2 ETV1 KIT NTRK3 PDGFRA PDGFRB
6 growth/size/body region MP:0005378 10.25 ABL1 ACTC1 ENO2 ETV1 FLT3 KIT
7 endocrine/exocrine gland MP:0005379 10.11 ABL1 FLT3 KIT KITLG PDGFRA PDGFRB
8 muscle MP:0005369 9.97 ABL1 ACTC1 DES ETV1 KIT PDGFRA
9 nervous system MP:0003631 9.93 MTHFR NTRK3 PDGFRA PDGFRB PRKCQ SDHD
10 neoplasm MP:0002006 9.86 CD34 FLT3 KIT KITLG PDGFRA PRKCQ
11 normal MP:0002873 9.65 ABL1 ACTC1 ETV1 KIT NTRK3 PDGFRA
12 vision/eye MP:0005391 9.23 KITLG MTHFR NTRK3 PDGFRB PRKCQ VIM

Drugs & Therapeutics for Gastrointestinal Stromal Tumor

FDA approved drugs:

(showing 4, show less)
id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Gleevec 17 46 IMATINIB MESYLATE Novartis May 2001
2
Stivarga 17 46 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
3
Sutent 17 46 SUNITINIB MALATE Pfizer May 2011/ January 2006
4
Votrient 17 46 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009

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

(showing 170, show less)
id 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 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
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,Phase 1
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,Phase 1
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 Calcium, Dietary Phase 3,Phase 1
47 Analgesics, Opioid Phase 3
48 Narcotics Phase 3
49 Peripheral Nervous System Agents Phase 3
50 Antibodies Phase 3,Phase 2,Phase 1
51 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
52 Endothelial Growth Factors Phase 3,Phase 2
53 Immunoglobulins Phase 3,Phase 2,Phase 1
54 Mitogens Phase 3,Phase 2
55 tyrosine Nutraceutical Phase 3,Phase 2,Phase 1
56
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
57
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
58
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
59
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
60 Racepinephrine Approved Phase 2
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 Phase 2 943319-70-8 24826799
65
Xylometazoline Approved Phase 2 526-36-3 5709
66
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
67
Gemcitabine Approved Phase 2,Phase 1 95058-81-4 60750
68
Floxuridine Approved Phase 2,Phase 1 50-91-9 5790
69
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
70
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
71
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
72
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
73
nivolumab Approved Phase 2 946414-94-4
74
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
75
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
76
Dabrafenib Approved Phase 2 44462760 44516822
77
Trametinib Approved Phase 2 871700-17-3 11707110
78
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
79
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
80
Iron Approved Phase 2 7439-89-6 23925
81
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
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, 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 Epinephryl borate Phase 2
94 Alkylating 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
100 Deoxyglucose Phase 2
101 Anti-Bacterial Agents Phase 1, Phase 2
102 Antibiotics, Antitubercular Phase 1, Phase 2
103 Antifungal Agents Phase 1, Phase 2
104 Anti-Infective Agents Phase 1, Phase 2
105 PONATINIB  Phase 2
106 Fluorodeoxyglucose F18 Phase 2
107 Antiviral Agents Phase 2,Phase 1
108 Hormones Phase 2,Phase 1
109 Semaxinib Phase 2
110 Rubitecan Phase 2
111 topoisomerase I inhibitors Phase 2,Phase 1
112 Topoisomerase Inhibitors Phase 2,Phase 1
113 Antineoplastic Agents, Hormonal Phase 2
114 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
115 Albumin-Bound Paclitaxel Phase 2,Phase 1
116 interferons Phase 2
117 Cathartics Phase 2
118 Laxatives Phase 2
119 Hematinics Phase 2,Phase 1
120 Ferric Compounds Phase 2
121 Radiopharmaceuticals Phase 1, Phase 2
122 Folate Nutraceutical Phase 2,Phase 1
123 Vitamin B3 Nutraceutical Phase 2
124 Vitamin B9 Nutraceutical Phase 2,Phase 1
125 Iron Supplement Nutraceutical Phase 2
126
Ketoconazole Approved, Investigational Phase 1 65277-42-1 47576 3823
127
Fluorouracil Approved Phase 1 51-21-8 3385
128
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
129
Levoleucovorin Approved Phase 1 68538-85-2
130
Cetuximab Approved Phase 1 205923-56-4 56842117 2333
131
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
132
Warfarin Approved Phase 1 81-81-2 6691 54678486
133
Pantoprazole Approved Phase 1 102625-70-7 4679
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, 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 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 Anticoagulants Phase 1
151 Antifibrinolytic Agents Phase 1
152 Coagulants Phase 1
153 Hemostatics Phase 1
154
Inositol Investigational, Nutraceutical Phase 1 87-89-8
155 Grapefruit Seed Extract Nutraceutical Phase 1
156 glutamine Nutraceutical Phase 1
157 Menaquinone Nutraceutical Phase 1
158 naphthoquinone Nutraceutical Phase 1
159 Vitamin K Nutraceutical Phase 1
160
Hydroxyurea Approved