eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	pheochromocytoma

Disease ID	144
Disease	pheochromocytoma
Definition	A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)
Synonym	[m]phaeochromocytoma nos adrenal gland chromaffin paraganglioma adrenal gland chromaffinoma adrenal gland paraganglioma adrenal gland pheochromocytoma adrenal medullary paraganglioma adrenal medullary pheochromocytoma adrenal pheochromocytoma chromaffin paraganglioma chromaffin paraganglioma (disorder) chromaffin paraganglioma of the adrenal gland chromaffin tumor chromaffin tumors chromaffin tumour chromaffinoma chromaffinoma (disorder) chromaffinoma, medullary intraadrenal paraganglioma paraganglioma, medullary pcc phaeochromocytoma phaeochromocytoma (disorder) phaeochromocytoma [ambiguous] phaeochromocytoma, nos pheochromocytoma (adrenal) pheochromocytoma (disorder) pheochromocytoma (morphologic abnormality) pheochromocytoma [disease/finding] pheochromocytoma syndrome pheochromocytoma, adrenal pheochromocytoma, nos pheochromocytomas pheochromocytomas, adrenal
OMIM	OMIM:171300 OMIM:115700
DOID	DOID:0050771 DOID:0050892
UMLS	C0031511
MeSH	D010673
SNOMED-CT	SNOMEDCT_US_2016_09_01:399343007;SNOMEDCT_US_2016_09_01:302835009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:93) C0020538 \| hypertension \| 24 C0878544 \| cardiomyopathy \| 13 C0027662 \| multiple endocrine neoplasia \| 13 C0085113 \| neurofibromatosis \| 11 C0007115 \| thyroid ca \| 6 C0030421 \| paraganglioma \| 6 C0025268 \| multiple endocrine neoplasia type 2 \| 5 C0019562 \| von hippel-lindau syndrome \| 5 C0019562 \| lindau disease \| 4 C0549473 \| thyroid carcinoma \| 4 C0019562 \| von hippel-lindau disease \| 4 C0025268 \| men 2a \| 4 C0019562 \| hippel-lindau disease \| 4 C0206754 \| neuroendocrine tumor \| 3 C0001430 \| adenoma \| 3 C0020502 \| hyperparathyroidism \| 3 C0238462 \| medullary thyroid carcinoma \| 3 C0494165 \| liver metastases \| 2 C0027051 \| myocardial infarction \| 2 C0007193 \| dilated cardiomyopathy \| 2 C0017075 \| ganglioneuroma \| 2 C0221002 \| primary hyperparathyroidism \| 2 C0021847 \| intestinal pseudo-obstruction \| 2 C0206693 \| medullary carcinoma \| 2 C0027662 \| multiple endocrine neoplasia syndrome \| 2 C0025269 \| men 2b \| 2 C0025268 \| multiple endocrine neoplasia type 2a \| 2 C0022658 \| renal disease \| 2 C0027051 \| myocardial infarct \| 2 C0040053 \| thrombosis \| 2 C0022116 \| ischaemia \| 1 C0032914 \| preeclampsia \| 1 C0206667 \| adrenocortical adenoma \| 1 C0011849 \| diabetes mellitus \| 1 C0018799 \| heart disease \| 1 C0152021 \| congenital heart disease \| 1 C0040053 \| thrombus \| 1 C0013502 \| hydatid cyst \| 1 C0085096 \| peripheral vascular disease \| 1 C0021843 \| intestinal obstruction \| 1 C0020598 \| hypoglycemia \| 1 C0494165 \| liver metastasis \| 1 C0024299 \| lymphoma \| 1 C0003486 \| aortic aneurysm \| 1 C0206686 \| adrenal cortical carcinoma \| 1 C0018378 \| guillain-barre syndrome \| 1 C0034063 \| pulmonary edema \| 1 C0153676 \| lung metastasis \| 1 C0162678 \| multiple neurofibromatosis \| 1 C0022658 \| kidney disease \| 1 C0020437 \| hypercalcaemia \| 1 C0340274 \| gestational hypertension \| 1 C0022661 \| chronic renal failure \| 1 C0042373 \| vascular problem \| 1 C0206686 \| adrenal cortical carcinomas \| 1 C0001206 \| acromegaly \| 1 C0206754 \| neuroendocrine tumors \| 1 C0022661 \| chronic renal disease \| 1 C0085642 \| livedo reticularis \| 1 C0031511 \| pheochromocytoma \| 1 C0001622 \| hypercortisolism \| 1 C0022661 \| end-stage renal disease \| 1 C1332900 \| cerebellar hemangioblastoma \| 1 C0010481 \| cushing syndrome \| 1 C0027662 \| multiple endocrine neoplasia syndromes \| 1 C0030567 \| parkinson's disease \| 1 C0494165 \| hepatic metastasis \| 1 C0011644 \| scleroderma \| 1 C0031511 \| pheochromocytomas \| 1 C0206734 \| hemangioblastoma \| 1 C0024299 \| malignant lymphoma \| 1 C0151620 \| hypertensive encephalopathy \| 1 C0033687 \| proteinuria \| 1 C0022661 \| chronic kidney disease \| 1 C0011847 \| diabetes \| 1 C0010481 \| cushing's syndrome \| 1 C0007194 \| hypertrophic obstructive cardiomyopathy \| 1 C0032987 \| ectopic pregnancy \| 1 C1333990 \| lynch syndrome \| 1 C0155616 \| secondary hypertension \| 1 C0019562 \| von hippel-lindau syndrome (vhl) \| 1 C0007194 \| obstructive cardiomyopathy \| 1 C0018801 \| heart failure \| 1 C0238301 \| nasopharyngeal carcinoma \| 1 C0040188 \| tic disorders \| 1 C0035078 \| renal failure \| 1 C0238462 \| medullary carcinoma of thyroid \| 1 C0018213 \| graves' disease \| 1 C0042373 \| vascular disease \| 1 C0162871 \| abdominal aortic aneurysm \| 1 C0022660 \| acute renal failure \| 1 C0020550 \| hyperthyroidism \| 1 C0039730 \| thalassemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 4129 \| MAOB \| CTD_human 5979 \| RET \| CLINVAR;CTD_human;UNIPROT 4763 \| NF1 \| CTD_human 4128 \| MAOA \| CTD_human 6390 \| SDHB \| CLINVAR;CTD_human;UNIPROT 23095 \| KIF1B \| CLINVAR;CTD_human 1312 \| COMT \| CTD_human 7054 \| TH \| CTD_human 55654 \| TMEM127 \| CLINVAR;CTD_human;UNIPROT 7428 \| VHL \| CLINVAR;CTD_human;UNIPROT 2668 \| GDNF \| CTD_human 4149 \| MAX \| CTD_human 6392 \| SDHD \| CLINVAR;CTD_human;UNIPROT 1644 \| DDC \| CTD_human 1621 \| DBH \| CTD_human 1113 \| CHGA \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) 8453 \| CUL2 \| CIPHER 5979 \| RET \| CIPHER;CTD_human 6390 \| SDHB \| CIPHER;CTD_human 6392 \| SDHD \| CIPHER;CTD_human 7428 \| VHL \| CIPHER;CTD_human 4129 \| MAOB \| CTD_human 55654 \| TMEM127 \| CTD_human 23095 \| KIF1B \| CTD_human 4149 \| MAX \| CTD_human 1644 \| DDC \| CTD_human 7054 \| TH \| CTD_human 1621 \| DBH \| CTD_human 1113 \| CHGA \| CTD_human 1312 \| COMT \| CTD_human 4128 \| MAOA \| CTD_human 4763 \| NF1 \| CTD_human 2668 \| GDNF \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 10006 \| ABI1 \| 1.767 \| DISEASES 135 \| ADORA2A \| 1.468 \| DISEASES 177 \| AGER \| 1.152 \| DISEASES 223 \| ALDH9A1 \| 2.344 \| DISEASES 121601 \| ANO4 \| 2.862 \| DISEASES 480 \| ATP1A4 \| 1.309 \| DISEASES 491 \| ATP2B2 \| 1.673 \| DISEASES 546 \| ATRX \| 1.303 \| DISEASES 55845 \| BRK1 \| 2.416 \| DISEASES 796 \| CALCA \| 3.882 \| DISEASES 10203 \| CALCRL \| 1.089 \| DISEASES 94027 \| CGB7 \| 1.512 \| DISEASES 94115 \| CGB8 \| 1.415 \| DISEASES 1103 \| CHAT \| 1.028 \| DISEASES 1114 \| CHGB \| 2.205 \| DISEASES 1312 \| COMT \| 1.703 \| DISEASES 8453 \| CUL2 \| 2.54 \| DISEASES 1585 \| CYP11B2 \| 1.104 \| DISEASES 1621 \| DBH \| 1.874 \| DISEASES 1644 \| DDC \| 1.585 \| DISEASES 151871 \| DPPA2 \| 2.036 \| DISEASES 1910 \| EDNRB \| 1.294 \| DISEASES 54583 \| EGLN1 \| 2.746 \| DISEASES 2444 \| FRK \| 1.938 \| DISEASES 2596 \| GAP43 \| 1.523 \| DISEASES 2885 \| GRB2 \| 1.25 \| DISEASES 2902 \| GRIN1 \| 1.743 \| DISEASES 3091 \| HIF1A \| 1.353 \| DISEASES 3122 \| HLA-DRA \| 1.125 \| DISEASES 3481 \| IGF2 \| 1.93 \| DISEASES 3725 \| JUN \| 1.41 \| DISEASES 3745 \| KCNB1 \| 2.16 \| DISEASES 3747 \| KCNC2 \| 2.526 \| DISEASES 5609 \| MAP2K7 \| 1.121 \| DISEASES 5602 \| MAPK10 \| 1.064 \| DISEASES 5601 \| MAPK9 \| 1.313 \| DISEASES 4191 \| MDH2 \| 1.863 \| DISEASES 55384 \| MEG3 \| 2.073 \| DISEASES 4221 \| MEN1 \| 2.639 \| DISEASES 4763 \| NF1 \| 3.609 \| DISEASES 4803 \| NGF \| 4.921 \| DISEASES 594857 \| NPS \| 1.568 \| DISEASES 594857 \| NPS \| 1.312 \| DISEASES 4914 \| NTRK1 \| 2.306 \| DISEASES 4978 \| OPCML \| 1.622 \| DISEASES 22953 \| P2RX2 \| 3.171 \| DISEASES 5179 \| PENK \| 2.719 \| DISEASES 5706 \| PSMC6 \| 1.966 \| DISEASES 5906 \| RAP1A \| 1.047 \| DISEASES 5923 \| RASGRF1 \| 1.714 \| DISEASES 11186 \| RASSF1 \| 1.488 \| DISEASES 5979 \| RET \| 5.122 \| DISEASES 6390 \| SDHB \| 5.498 \| DISEASES 6391 \| SDHC \| 4.367 \| DISEASES 6392 \| SDHD \| 5.296 \| DISEASES 64078 \| SLC28A3 \| 1.629 \| DISEASES 4090 \| SMAD5 \| 1.253 \| DISEASES 23583 \| SMUG1 \| 2.027 \| DISEASES 6714 \| SRC \| 1.559 \| DISEASES 8859 \| STK19 \| 2.216 \| DISEASES 6839 \| SUV39H1 \| 1.188 \| DISEASES 143425 \| SYT9 \| 1.147 \| DISEASES 7054 \| TH \| 2.357 \| DISEASES 7227 \| TRPS1 \| 1.399 \| DISEASES 7432 \| VIP \| 2.328 \| DISEASES
Locus	(Waiting for update.)

Disease ID	144
Disease	pheochromocytoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:16) HP:0000975 \| Increased sweating HP:0000519 \| Cataracts, lenticular, bilateral HP:0003072 \| Hypercalcemia HP:0001635 \| Congestive heart failure HP:0002666 \| Pheochromocytoma HP:0001342 \| Intracerebral hemorrhage HP:0001095 \| Hypertensive retinopathy HP:0001920 \| Renal artery stenosis HP:0000093 \| Proteinuria HP:0003345 \| Elevated urinary norepinephrine HP:0001649 \| Tachycardia HP:0001028 \| Strawberry mark HP:0003574 \| Positive regitine blocking test HP:0000875 \| Intermittent high blood pressure HP:0000957 \| Cafe-au-lait macules HP:0002664 \| Neoplasia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:69) HP:0000822 \| Hypertension \| 26 HP:0002664 \| Neoplasia \| 16 HP:0001067 \| Neurofibromas \| 12 HP:0001638 \| Cardiomyopathy \| 12 HP:0002668 \| Paragangliomas \| 7 HP:0100568 \| Endocrine neoplasia \| 7 HP:0030731 \| Carcinoma \| 4 HP:0100735 \| Hypertensive crisis \| 4 HP:0002617 \| Aneurysmal dilatation \| 4 HP:0002615 \| Low blood pressure \| 4 HP:0002890 \| Thyroid carcinoma \| 4 HP:0030149 \| Cardiovascular shock \| 4 HP:0001658 \| Myocardial infarction \| 3 HP:0002865 \| Medullary thyroid carcinoma \| 3 HP:0000843 \| Hyperparathyroidism \| 3 HP:0002315 \| Headaches \| 3 HP:0003005 \| Ganglioneuroma \| 3 HP:0011665 \| Takotsubo cardiomyopathy \| 2 HP:0100697 \| Neurofibrosarcoma \| 2 HP:0001664 \| Torsade de pointes \| 2 HP:0001644 \| Congestive cardiomyopathy \| 2 HP:0004942 \| Aortic aneurysm \| 2 HP:0001578 \| Hypercortisolism \| 2 HP:0008200 \| Primary hyperparathyroidism \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0004389 \| Intestinal pseudo-obstruction \| 2 HP:0001920 \| Renal artery stenosis \| 2 HP:0000845 \| Acromegalic growth \| 1 HP:0012051 \| Low blood sugar after a meal \| 1 HP:0008256 \| Adrenocortical adenomas \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0004953 \| Abdominal aortic aneurysm \| 1 HP:0030907 \| Thunderclap headache \| 1 HP:0001962 \| Palpitations \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0001945 \| Fever \| 1 HP:0002665 \| Lymphoma \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0000093 \| Proteinuria \| 1 HP:0011709 \| Atrioventricular dissociation \| 1 HP:0000965 \| Livedo reticularis \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0000975 \| Increased sweating \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0006747 \| Ganglioneuroblastoma \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0100602 \| Pre-eclampsia \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000968 \| Ectodermal dysplasia \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0001750 \| Single ventricle \| 1 HP:0002666 \| Pheochromocytoma \| 1 HP:0010797 \| Hemangioblastoma \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0000103 \| Polyuria \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0002910 \| Elevated transaminases \| 1 HP:0006748 \| Adrenal pheochromocytoma \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0006880 \| Hemangioblastoma, sporadic cerebellar \| 1 HP:0012531 \| Pain \| 1 HP:0100324 \| Progressive systemic scleroderma \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0001919 \| Acute renal failure \| 1

Disease ID	144
Disease	pheochromocytoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:88) C2712322 \| tachycardia C2632116 \| stenosis C2242709 \| pancreatic infarction C2096315 \| headache C1963138 \| hypertension C1962972 \| proteinuria C1962971 \| myocarditis C1839611 \| n syndrome C1739395 \| takotsubo cardiomyopathy C1739395 \| tako-tsubo cardiomyopathy C1698475 \| pseudovasculitis C1608408 \| malignant transformation C1546533 \| abscess C1522135 \| hypermagnesemia C1504665 \| diabetic ketoacidosis C1393529 \| vascular complications C1318533 \| secondary erythrocytosis C1258215 \| ileus C0917798 \| cerebral ischemia C0878544 \| cardiomyopathy C0876993 \| ventricular thrombus C0751887 \| medullary tumor C0555278 \| cerebral metastases C0542052 \| coronary insufficiency C0494165 \| liver metastases C0451718 \| reflux nephropathy C0427008 \| stiffness C0426576 \| gastrointestinal symptoms C0424755 \| fever C0341163 \| perforated gastric ulcer C0271728 \| secondary hyperaldosteronism C0267396 \| ischemic enterocolitis C0267373 \| intestinal bleeding C0264714 \| acute heart failure C0262988 \| cutaneous vasculitis C0238462 \| medullary thyroid carcinoma C0238074 \| cor pulmonale C0235031 \| neurologic symptoms C0232940 \| secondary amenorrhoea C0232306 \| left ventricular hypertrophy C0221154 \| paroxysmal hypertension C0206734 \| hemangioblastoma C0205700 \| asymmetric septal hypertrophy C0198632 \| pneumoperitoneum C0162529 \| ischemic colitis C0155919 \| acute pulmonary edema C0155761 \| renal artery fibromuscular dysplasia C0153690 \| bone metastases C0153687 \| cutaneous metastasis C0085077 \| sweet's syndrome C0042373 \| angiopathy C0039240 \| supraventricular tachycardias C0039235 \| junctional tachycardia C0037285 \| skin manifestations C0035222 \| adult respiratory distress syndrome C0035067 \| renal artery stenosis C0034063 \| pulmonary edema C0032463 \| polycythemia vera C0030472 \| paraneoplastic syndrome C0030446 \| paralytic ileus C0029132 \| optic neuropathy C0027831 \| von recklinghausen's disease C0027831 \| neurofibromatosis type 1 C0027662 \| multiple endocrine neoplasia C0026848 \| muscle disease C0024588 \| malignant hypertension C0022665 \| renal tumors C0021847 \| intestinal pseudo-obstruction C0021845 \| bowel perforation C0020649 \| hypotension C0020615 \| hypoglycemia C0020546 \| hypertensive crisis C0020437 \| hypercalcemia C0019562 \| von hippel-lindau disease C0019080 \| hemorrhage C0018799 \| heart disease C0018213 \| graves' disease C0012736 \| dissecting aortic aneurysm C0011860 \| diabetes C0011849 \| diabetes mellitus C0010481 \| cushing's syndrome C0007279 \| carotid body paragangliomas C0007222 \| cardiovascular disorders C0007194 \| hypertrophic obstructive cardiomyopathy C0007194 \| hypertrophic myocardiopathy C0007177 \| cardiac tamponade C0001231 \| ectopic acth syndrome C0001125 \| lactic acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:34) C0020538 \| hypertension \| 26 C0878544 \| cardiomyopathy \| 12 C0027662 \| multiple endocrine neoplasia \| 11 C0027831 \| neurofibromatosis type 1 \| 6 C0020546 \| hypertensive crisis \| 4 C0020649 \| hypotension \| 4 C0019562 \| von hippel-lindau disease \| 3 C0238462 \| medullary thyroid carcinoma \| 3 C0035067 \| renal artery stenosis \| 2 C1739395 \| takotsubo cardiomyopathy \| 2 C0494165 \| liver metastases \| 2 C1393529 \| vascular complications \| 2 C0010481 \| cushing's syndrome \| 1 C0876993 \| ventricular thrombus \| 1 C0033687 \| proteinuria \| 1 C0020598 \| hypoglycemia \| 1 C0011847 \| diabetes \| 1 C0021847 \| intestinal pseudo-obstruction \| 1 C0000833 \| abscess \| 1 C0027831 \| von recklinghausen's disease \| 1 C0206734 \| hemangioblastoma \| 1 C0018213 \| graves' disease \| 1 C0020437 \| hypercalcaemia \| 1 C0149721 \| left ventricular hypertrophy \| 1 C0221154 \| paroxysmal hypertension \| 1 C0018681 \| headache \| 1 C0007194 \| hypertrophic obstructive cardiomyopathy \| 1 C0426576 \| gastrointestinal symptoms \| 1 C0264714 \| acute heart failure \| 1 C0011849 \| diabetes mellitus \| 1 C0018799 \| heart disease \| 1 C0019080 \| hemorrhage \| 1 C0015967 \| fever \| 1 C0009814 \| stenosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:89)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893826	NA	7428	VHL	umls:C0031511	CLINVAR	NA	0.415849807	NA	VHL	3	10142038	G	A,C
rs104893827	NA	7428	VHL	umls:C0031511	CLINVAR	NA	0.415849807	NA	VHL	3	10142035	T	C
rs104894306	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD;TIMM8B	11	112087868	C	T
rs104894309	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD;TIMM8B	11	112086940	C	A,T
rs104894310	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD;TIMM8B	11	112086921	G	A
rs111430410	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17053988	C	T
rs11214077	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD;TIMM8B	11	112087953	A	G
rs116840821	11393532	2705	GJB1	umls:C0031511	BeFree	Wild-type Cx32 and three Cx32 mutants (Va163Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of onion-bulb formations) were transfected to rat pheochromocytoma cells (PC12).	0.000271442	2001	GJB1	X	71224263	G	A
rs121908164	NA	23095	KIF1B	umls:C0031511	CLINVAR	NA	0.243267234	NA	KIF1B;LOC105376725	1	10365476	G	A
rs121908813	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265399	G	A
rs121908814	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265379	C	A
rs121908815	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265306	G	A
rs121908816	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265263	GACA	-
rs121908817	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265232	-	T
rs121908818	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265224	C	G
rs121908819	21156949	55654	TMEM127	umls:C0031511	UNIPROT	Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.	0.367991366	2010	CIAO1;TMEM127	2	96265174	C	T
rs121908819	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265174	C	T
rs121908820	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	CIAO1;TMEM127	2	96265165	C	G
rs121908821	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254998	C	A
rs121908822	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254974	CTGT	-
rs121908823	21156949	55654	TMEM127	umls:C0031511	UNIPROT	Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.	0.367991366	2010	TMEM127	2	96254974	C	T
rs121908823	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254974	C	T
rs121908824	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254962	G	C,A
rs121908825	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254832	C	A
rs121908826	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254117	T	G
rs121908827	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254107	A	G
rs121908828	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254106	C	T
rs121908829	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254078	C	T
rs121908830	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96254050	G	A
rs121908831	NA	55654	TMEM127	umls:C0031511	CLINVAR	NA	0.367991366	NA	TMEM127	2	96253884	-	TCTCTGAGAGCAGC
rs121917755	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17028724	G	A
rs138996609	14500403	6390	SDHB	umls:C0031511	UNIPROT	These data strongly suggest that SDHB gene is a tumor suppressor gene and that the identification of germ-line mutations in SDHB gene in patients with ASPs should be considered as a high-risk factor for malignancy or recurrence.	0.429028364	2003	SDHB	1	17022685	G	A
rs1805007	19755124	2048	EPHB2	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R	16	89919709	C	G,T
rs1805007	19755124	4157	MC1R	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R	16	89919709	C	G,T
rs1805007	19755124	5594	MAPK1	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R	16	89919709	C	G,T
rs1805008	19755124	5594	MAPK1	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R	16	89919736	C	T
rs1805008	19755124	2048	EPHB2	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R	16	89919736	C	T
rs1805008	19755124	4157	MC1R	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R	16	89919736	C	T
rs1805009	19755124	2048	EPHB2	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R;TUBB3	16	89920138	G	A,C
rs1805009	19755124	4157	MC1R	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R;TUBB3	16	89920138	G	A,C
rs1805009	19755124	5594	MAPK1	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	MC1R;TUBB3	16	89920138	G	A,C
rs190139590	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17028580	A	T
rs267607170	20583150	7428	VHL	umls:C0031511	BeFree	The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age.	0.415849807	2010	VHL	3	10149814	A	G
rs34677591	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD;TIMM8B	11	112086941	G	A
rs34682185	20039896	5979	RET	umls:C0031511	BeFree	A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.	0.604771993	2010	RET	10	43106382	G	A
rs35460768	14500403	7428	VHL	umls:C0031511	UNIPROT	Eighty-four patients (all but 2 followed up for 8.8 +/- 5.7 years) with ASP (57 with adrenal tumors, 27 with extra-adrenal, multiple, malignant, or recurrent tumors) were screened for the major susceptibility genes for phaeochromocytoma (RET, VHL, SDHD, and SDHB).	0.415849807	2003	VHL	3	10141921	C	T
rs377767406	22274720	5979	RET	umls:C0031511	BeFree	Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.	0.604771993	2012	RET	10	43114491	G	A,T
rs377767430	9502784	5979	RET	umls:C0031511	BeFree	Here, we report that one mutation affecting the extracytoplasmic cadherin domain (R231H) and two mutations located in the tyrosine kinase domain (K907E, E921K) impaired the biological activity of RET-MEN 2A when tested in Rat1 fibroblasts and pheochromocytoma PC12 cells.	0.604771993	1998	RET	10	43120192	A	G
rs386505388	19755124	5594	MAPK1	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	NA	NA	NA	NA	NA
rs386505388	19755124	4157	MC1R	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	NA	NA	NA	NA	NA
rs386505388	19755124	2048	EPHB2	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	NA	NA	NA	NA	NA
rs386545682	19755124	4157	MC1R	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	NA	NA	NA	NA	NA
rs386545682	19755124	5594	MAPK1	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	NA	NA	NA	NA	NA
rs386545682	19755124	2048	EPHB2	umls:C0031511	BeFree	When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.	0.000271442	2009	NA	NA	NA	NA	NA
rs5030805	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10142086	G	A,T
rs5030808	NA	7428	VHL	umls:C0031511	CLINVAR	NA	0.415849807	NA	VHL	3	10142124	G	A,C
rs5030808	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10142124	G	A,C
rs5030809	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10142139	T	C
rs5030820	NA	7428	VHL	umls:C0031511	CLINVAR	NA	0.415849807	NA	VHL	3	10149822	C	G,T
rs5030820	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10149822	C	G,T
rs5030821	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10149823	G	A
rs5030824	NA	7428	VHL	umls:C0031511	CLINVAR	NA	0.415849807	NA	VHL	3	10149885	C	G
rs5030824	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10149885	C	G
rs5030833	12000816	7428	VHL	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.415849807	2002	VHL	3	10146580	T	C,G
rs74315366	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17033078	G	C,A
rs74315368	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17022648	C	T
rs74315369	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17044882	G	C,A
rs74315370	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17044825	G	C,A
rs74315371	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17028721	C	T
rs74799832	NA	5979	RET	umls:C0031511	CLINVAR	NA	0.604771993	NA	RET	10	43121968	T	C
rs75076352	NA	5979	RET	umls:C0031511	CLINVAR	NA	0.604771993	NA	RET	10	43114500	T	A,C,G
rs751000085	NA	6390	SDHB	umls:C0031511	CLINVAR	NA	0.429028364	NA	SDHB	1	17028680	G	A
rs75234356	24449023	5979	RET	umls:C0031511	BeFree	Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case.	0.604771993	2013	RET	10	43120144	T	G
rs75873440	18805915	5979	RET	umls:C0031511	BeFree	We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with MEN2A phenotype, consisting of pheochromocytoma which was the presenting feature and medullary thyroid carcinoma.	0.604771993	2008	RET	10	43112173	G	A,T
rs75996173	NA	5979	RET	umls:C0031511	CLINVAR	NA	0.604771993	NA	RET	10	43114501	G	A,C,T
rs75996173	20080836	5979	RET	umls:C0031511	BeFree	High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.	0.604771993	2010	RET	10	43114501	G	A,C,T
rs77558292	19475497	5979	RET	umls:C0031511	BeFree	In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.	0.604771993	2009	RET	10	43113621	T	A,C,G
rs77558292	16343103	5979	RET	umls:C0031511	BeFree	Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.	0.604771993	2005	RET	10	43113621	T	A,C,G
rs77709286	NA	5979	RET	umls:C0031511	CLINVAR	NA	0.604771993	NA	RET	10	43114502	C	G
rs77724903	12000816	5979	RET	umls:C0031511	UNIPROT	Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	0.604771993	2002	RET	10	43118460	A	T
rs77724903	NA	5979	RET	umls:C0031511	CLINVAR	NA	0.604771993	NA	RET	10	43118460	A	T
rs77724903	20080836	5979	RET	umls:C0031511	BeFree	High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.	0.604771993	2010	RET	10	43118460	A	T
rs77939446	16343103	5979	RET	umls:C0031511	BeFree	Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.	0.604771993	2005	RET	10	43113622	G	A,C,T
rs77939446	19475497	5979	RET	umls:C0031511	BeFree	In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.	0.604771993	2009	RET	10	43113622	G	A,C,T
rs79658334	17466010	5979	RET	umls:C0031511	BeFree	Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.	0.604771993	2007	RET	10	43119548	G	A,C,T
rs79661516	9502784	5979	RET	umls:C0031511	BeFree	Here, we report that one mutation affecting the extracytoplasmic cadherin domain (R231H) and two mutations located in the tyrosine kinase domain (K907E, E921K) impaired the biological activity of RET-MEN 2A when tested in Rat1 fibroblasts and pheochromocytoma PC12 cells.	0.604771993	1998	RET	10	43105018	G	A
rs80338843	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD;TIMM8B	11	112087916	C	T
rs80338844	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD	11	112088939	C	T
rs80338845	NA	6392	SDHD	umls:C0031511	CLINVAR	NA	0.422755406	NA	SDHD	11	112088971	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000875	Episodic hypertension	MP:0003548	pulmonary hypertension	sustained high pulmonary pressure at a level that is likely to result in disease and/or other pathological states
HP:0003345	Elevated urinary norepinephrine	MP:0000538	abnormal urinary bladder morphology	any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
HP:0000519	Congenital cataract	MP:0001304	cataract	complete or partial opacity of the lens
HP:0000957	Cafe-au-lait spot	MP:0002939	head spot	the appearance of a round area of white fur on the head
HP:0001920	Renal artery stenosis	MP:0003588	ureter stenosis	abnormal narrowing or constriction of the ureter
HP:0001342	Cerebral hemorrhage	MP:0001914	hemorrhage	loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels
HP:0001635	Congestive heart failure	MP:0011925	abnormal heart echocardiography feature	any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features

Mapped by homologous gene(Total Items:16)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000975	Hyperhidrosis	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
HP:0001635	Congestive heart failure	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000875	Episodic hypertension	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0001095	Hypertensive retinopathy	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0001028	Hemangioma	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0002664	Neoplasm	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0003072	Hypercalcemia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000093	Proteinuria	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001649	Tachycardia	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000957	Cafe-au-lait spot	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0001920	Renal artery stenosis	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0000519	Congenital cataract	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003574	Positive regitine blocking test	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0002666	Pheochromocytoma	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0003345	Elevated urinary norepinephrine	MP:0013774	decreased KLRG1-positive T-helper cell number	reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation
HP:0001342	Cerebral hemorrhage	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance

Disease ID	144
Disease	pheochromocytoma
Case	(Waiting for update.)