MCID: PHC003
MIFTS: 78

Pheochromocytoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories
Download this MalaCard

Summaries for Pheochromocytoma

About this section
Sources:
43NIH Rare Diseases, 34MedlinePlus, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MedlinePlus:34 Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. this can lead to high blood pressure and cause symptoms such as headaches sweating pounding of the heart being shaky being extremely pale sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (men). people with men often have other cancers and other problems involving hormones. doctors use lab tests and imaging tests to diagnose it. surgery is the most common treatment. other options include radiation therapy, chemotherapy, and targeted therapy. targeted therapy uses substances that attack cancer cells without harming normal cells. nih: national cancer institute

MalaCards: Pheochromocytoma, also known as bilateral pheochromocytoma and islet cell adenoma of the pancreas, is related to paraganglioma and von hippel-lindau disease. An important gene associated with Pheochromocytoma is SDHB (succinate dehydrogenase complex, subunit B, iron sulfur (Ip)), and among its related pathways are Regulation of Hypoxia-inducible Factor (HIF) by Oxygen and Alzheimer's disease. The drugs propranolol and propranolol hydrochloride and the compounds thenoyltrifluoroacetone and fumarate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, testes and thyroid, and related mouse phenotypes are tumorigenesis and embryogenesis.

NIH Rare Diseases:43 Pheochromocytomas are rare tumors of the adrenal glands, which are located right above the kidneys. although they are usually not cancerous (benign), pheochromocytomas often cause the adrenal glands to make too many stress hormones called epinephrines and norepinephrines. this can lead to high blood pressure and cause symptoms such as severe headaches, irritability, sweating, rapid heart rate, nausea, vomiting, weight loss, weakness, chest pain, and a feeling of anxiety. rarely, this kind of tumor occurs outside the adrenal gland, usually somewhere in the abdomen, and are called extra-adrenal pheochromocytomas or paragangliomas. pheochromocytomas can occur in certain familial genetic syndromes. last updated: 4/27/2011

Wikipedia:65 A pheochromocytoma (from Greek phaios \"dark\", chroma \"color\", kytos \"cell\", -oma \"tumor\") or... more...

Description from OMIM:47 171300

Aliases & Classifications for Pheochromocytoma

About this section
Sources:
65Wikipedia, 43NIH Rare Diseases, 22GTR, 47OMIM, 45Novoseek, 34MedlinePlus, 62UMLS
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

pheochromocytoma 65 43 22 47 45 34 62
bilateral pheochromocytoma and islet cell adenoma of the pancreas 62
chromaffin paraganglioma 43
medullary paraganglioma 43
chromaffin cell tumor 43
chromaffin tumor 43
chromaffinoma 43


Related Diseases for Pheochromocytoma

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Pheochromocytoma family:

Tmem127-Related Susceptibility to Pheochromocytoma Ret-Related Pheochromocytoma
Kif1b-Related Pheochromocytoma Vhl-Related Pheochromocytoma
Max-Related Susceptibility to Pheochromocytoma

Diseases related to Pheochromocytoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 235)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma31.5NF1, VHL, MEN1, SST, RET, TMEM127
2von hippel-lindau disease31.1SDHB, SDHD, SDHC, NF1, VHL, MEN1
3multiple endocrine neoplasia31.1RET, SDHC, SDHD, SDHB, GDNF, MEN1
4hereditary paraganglioma-pheochromocytoma syndromes31.0SDHB, SDHD, SDHC
5neurofibromatosis31.0SDHB, SDHD, NF1
6adenoma30.9GDNF, TNC, RET, SST, MEN1, VHL
7multiple endocrine neoplasia type 2a30.8NF1, VHL, MEN1, RET, SDHC, SDHD
8cushing's syndrome30.7RET, SST, MEN1
9hyperparathyroidism30.6SDHB, SDHD, SDHC, RET, MEN1, NF1
10thyroid cancer30.5SST, RET, TNC
11primary hyperparathyroidism30.5RET, MEN1
12adrenal adenoma30.4MEN1, ADM
13neuroendocrine tumor30.4GDNF, SDHD, RET, SST, MEN1, NF1
14familial medullary thyroid carcinoma30.4RET, GDNF
15gastrointestinal stromal tumor30.4SDHB, SDHC, SDHA, NF1
16thyroid medullary carcinoma30.3GDNF, TNC, RET, SST, MEN1, VHL
17adenocarcinoma30.3TNC, ADM, SST, MEN1, VHL
18paragangliomas 530.3SDHA
19wdha syndrome30.3SST
20neuroma30.3RET, GDNF
21pancreatic islet cell tumors30.3RET, SST, MEN1
22pituitary adenoma30.3GDNF, ADM, RET, SST, MEN1
23acute myocarditis30.2TNC
24paragangliomas 130.2RET, SDHB
25carney triad30.2SDHC, SDHD, SDHB
26carotid body tumor30.2SDHC, SDHD, SDHB
27erythrocytosis30.2VHL
28phaeochromocytoma30.1SDHB, SDHD, SDHC, ADM, RET
29carcinoid syndrome30.1MEN1, SST, RET, SDHD
30parathyroid adenoma30.1RET, MEN1
31hemangioma30.1SDHB, SDHD, SDHC, RET, MEN1, VHL
32somatostatinoma29.9SST
33paraganglioma and gastric stromal sarcoma29.9SDHC, SDHD, SDHB
34zollinger-ellison syndrome29.9MEN1, SST
35hyperthyroidism29.9SDHB, SDHA, ADM, SST
36merkel cell carcinoma29.9TNC, SST
37glucagonoma29.9SST, MEN1
38ischemia29.9GDNF, TNC, SDHB, ADM
39renal agenesis29.9GDNF, RET
40breast cancer29.8TNC, SDHB, SDHC, EPAS1, ADM, STC1
41leukemia29.8NF1, MEN1, STC1, IDH2, GDNF
42hypertension10.6
43thyroiditis10.6
44sporadic pheochromocytoma10.6
45ganglioneuroma10.6
46neuroblastoma10.5
47neuronitis10.4
48hypoxia10.3
49ganglioneuroblastoma10.3
50hemangioblastoma10.3

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to pheochromocytoma

Symptoms for Pheochromocytoma

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

171300

Clinical features from OMIM:

171300

Drugs & Therapeutics for Pheochromocytoma

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Pheochromocytoma

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Pheochromocytoma

About this section
Sources:
22GTR
See all sources

Genetic tests related to Pheochromocytoma:

id Genetic test Affiliating Genes
1 Pheochromocytoma22

Anatomical Context for Pheochromocytoma

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pheochromocytoma:

33
Adrenal gland, Testes, Thyroid, Heart, Pancreas, Kidney, Pituitary, Endothelial, Bone, Liver, Brain, Pancreatic islet, Lung, Adipocyte, Adrenal cortex, B cells, Prostate, Skin, Breast, Cortex, Retina, Colon, Eye

Animal Models for Pheochromocytoma or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Pheochromocytoma:

37 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.0NF1, VHL, MEN1, RET, SDHD
2MP:000538010.0SDHD, EPAS1, ADM, RET, MEN1, VHL
3MP:00053799.9GDNF, SDHD, RET, STC1, MEN1, VHL
4MP:00028739.9TNC, SDHD, RET, STC1, SST, VHL
5MP:00053859.8GDNF, SDHD, EPAS1, ADM, UTS2R, RET
6MP:00053869.8GDNF, TNC, SDHD, ADM, RET, SST
7MP:00053699.7NF1, GDNF, EPAS1, ADM, UTS2R, RET
8MP:00036319.7GDNF, TNC, SDHD, EPAS1, RET, SST
9MP:00107689.6GDNF, SDHD, SDHC, EPAS1, ADM, RET
10MP:00053789.6GDNF, SDHD, EPAS1, RET, STC1, SST
11MP:00053879.6GDNF, EPAS1, ADM, RET, SST, MEN1
12MP:00053769.6TNC, SDHD, EPAS1, ADM, RET, SST
13MP:00053849.5GDNF, SDHD, ADM, RET, MEN1, VHL

Publications for Pheochromocytoma

About this section
Sources:
52PubMed
See all sources

Articles related to Pheochromocytoma:

(show top 50)    (show all 1208)
idTitleAuthorsYear
1
Pheochromocytoma presenting as diabetes insipidus. (24382904)
2013
2
Pheochromocytoma causing cardiomyopathy, ischemic stroke and acute arterial thrombosis: a case report and review of the literature. (23513638)
2013
3
Laparoscopic treatment of pheochromocytomas smaller or larger than 6 cm A clinical retrospective study on 44 patients. Laparoscopic adrenalectomy for pheochromocytoma. (23093462)
2013
4
Effect of carnosine and related compounds on proliferation of cultured rat pheochromocytoma PC-12 cells. (23330110)
2012
5
A rare case of hypertrophic obstructive cardiomyopathy posted for adrenalectomy for pheochromocytoma. (22701220)
2012
6
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma. (22274720)
2012
7
Recurrent left ventricular apical ballooning syndrome in a patient with pheochromocytoma. (23449065)
2012
8
Current role of metaiodobenzylguanidine in the diagnosis of pheochromocytoma and medullary thyroid cancer. (21803186)
2011
9
Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma. (21742610)
2011
10
Management of paroxysmal hypertension due to incidental pheochromocytoma in pregnancy. (21887038)
2011
11
A tissue microarray-based comparative analysis of novel and traditional immunohistochemical markers in the distinction between adrenal cortical lesions and pheochromocytoma. (20154585)
2010
12
SDH-related pheochromocytoma and paraganglioma. (20833333)
2010
13
The Warburg effect is genetically determined in inherited pheochromocytomas. (19763184)
2009
14
An aged bull with concurrent thyroid C cell carcinoma, adrenal pheochromocytoma and pituitary chromophobe adenoma. (19262038)
2009
15
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. (22980466)
2008
16
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. (18584357)
2008
17
Detection and treatment of pheochromocytomas and paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging. (19088695)
2008
18
Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma]. (17680521)
2007
19
Association of pheochromocytoma and ganglioneuroma: unusual finding in neurofibromatosis type 1. (17954422)
2007
20
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. (16787982)
2006
21
Familial nonsyndromic pheochromocytoma. (17102081)
2006
22
Overexpression of 14-3-3 protein protects pheochromocytoma cells against 1-methyl-4-phenylpyridinium toxicity. (17690728)
2006
23
High plasma levels of human chromogranin A and adrenomedullin in patients with pheochromocytoma. (15850005)
2005
24
Adrenal pheochromocytoma with contralateral cortisol-producing adrenal adenoma: diagnostic and therapeutic management. (16001333)
2005
25
Expression of adrenomedullin and its receptor mRNA in the tissues of normal adrenal medulla and pheochromocytoma]. (16178438)
2005
26
A technique for preparing protein gradients on polymeric surfaces: effects on PC12 pheochromocytoma cells. (15522750)
2005
27
Dynamic change of neural cell adhesion molecule polysialylation on human neuroblastoma (IMR-32) and rat pheochromocytoma (PC-12) cells during growth and differentiation. (12023285)
2002
28
Evidence that the chromogranin B fragment 368-417 extracted from a pheochromocytoma is phosphorylated. (11514034)
2001
29
Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. (9626157)
1998
30
Biosynthesis and degradation of bioactive fatty acid amides in human breast cancer and rat pheochromocytoma cells--implications for cell proliferation and differentiation. (9688276)
1998
31
Cytotoxicity of 1-amino-4-phenyl-1,2,3,6-tetrahydropyridine and 1-amino-4-phenylpyridinium ion, 1-amino analogues of MPTP and MPP+, to clonal pheochromocytoma PC12 cells. (9815183)
1998
32
Plasma chromogranin A in pheochromocytoma, primary hyperparathyroidism and pituitary adenoma in comparison with catecholamine, parathyroid hormone and pituitary hormones. (9228469)
1997
33
Comparative study between normal rat chromaffin and PC12 rat pheochromocytoma cells: production and effects of corticotropin-releasing hormone. (9003004)
1997
34
Castleman's disease in a 44-year-old male with neurofibromatosis and pheochromocytoma. (9477139)
1997
35
Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. (8810737)
1996
36
Hypokalemia in a patient with pheochromocytoma. (15251511)
1996
37
Remarkably suppressed manganese superoxide dismutase activity in malignant pheochromocytoma. (7752317)
1995
38
Rudolf-Virchow-Preis 1995. The role of RET proto-oncogene mutation analysis in the diagnosis of multiple endocrine neoplasia type 2 (MEN 2) gene carriers and in the discrimination of sporadic and familial medullary thyroid carcinomas and pheochromocytomas. (8600671)
1995
39
Pituitary adenylate cyclase-activating polypeptide autoregulates cAMP production due to activation of protein kinase C in PC12 pheochromocytoma cells. (7759058)
1995
40
Amyloid in adrenal gland pheochromocytomas. (7545387)
1995
41
Elevated immunoreactive endothelin levels in patients with pheochromocytoma. (7986462)
1994
42
Growth factors differentially stimulate the phosphorylation of Shc proteins and their association with Grb2 in PC-12 pheochromocytoma cells. (8288573)
1994
43
Vanadate stimulates differentiation and neurite outgrowth in rat pheochromocytoma PC12 cells and neurite extension in human neuroblastoma SH-SY5Y cells. (7521024)
1994
44
In vitro and in vivo detection of somatostatin receptors in pheochromocytomas and paragangliomas. (1349024)
1992
45
A case of pheochromocytoma producing parathyroid hormone-related protein and presenting with hypercalcemia. (2347892)
1990
46
Effect of compounds which disrupt proton gradients on secretion of neurosecretory proteins from PC12 pheochromocytoma cells. (2175857)
1990
47
Immunoreactive corticotropin-releasing hormone, growth hormone-releasing hormone, somatostatin, and peptide histidine methionine are present in adrenal pheochromocytomas, but not in extra-adrenal pheochromocytoma. (1969422)
1990
48
Density-dependent nerve growth factor regulation of Gs-alpha RNA in pheochromocytoma 12 cells. (2160599)
1990
49
Dynamic left ventricular outflow tract obstruction associated with pheochromocytoma. (7196146)
1981
50
Coexistence of bilateral pheochromocytoma and pancreatic islet cell tumor: report of a case and review of the literature. (215301)
1978

Variations for Pheochromocytoma

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

64 (show all 45)
id Symbol AA change Variation ID SNP ID
1RETp.Cys634GlyVAR_006323
2RETp.Cys634PheVAR_006324
3RETp.Cys634TyrVAR_006325
4RETp.Cys634ArgVAR_006326
5RETp.Cys634SerVAR_006327
6RETp.Cys634TrpVAR_006328
7RETp.Tyr791PheVAR_009483rs77724903
8SDHBp.Arg242HisVAR_017869
9SDHBp.Leu87SerVAR_018517
10SDHBp.Arg46GlyVAR_035064
11SDHBp.Cys101TyrVAR_035065
12SDHBp.Cys192ArgVAR_035066
13SDHBp.Cys196TyrVAR_035067
14SDHBp.Ser100PheVAR_037620
15SDHBp.Ala43ProVAR_054376
16SDHBp.Arg46GlnVAR_054377
17SDHBp.Gly53ArgVAR_054378
18SDHBp.Leu65HisVAR_054379
19SDHBp.Leu65ProVAR_054380
20SDHBp.Ile127AsnVAR_054381
21SDHBp.Arg230CysVAR_054383rs138996609
22SDHDp.Pro81LeuVAR_010038
23SDHDp.Asp92TyrVAR_010039
24VHLp.Ser68TrpVAR_005675
25VHLp.Ser80AsnVAR_005688rs5030805
26VHLp.Gly93CysVAR_005703rs5030808
27VHLp.Gly93SerVAR_005705rs5030808
28VHLp.Tyr98HisVAR_005707rs5030809
29VHLp.Phe119LeuVAR_005728
30VHLp.Phe136CysVAR_005737rs5030833
31VHLp.Tyr156CysVAR_005743
32VHLp.Arg161GlnVAR_005751
33VHLp.Arg161ProVAR_005752
34VHLp.Arg167GlnVAR_005761rs5030821
35VHLp.Arg167TrpVAR_005762rs5030820
36VHLp.Leu188ValVAR_005777rs5030824
37VHLp.Pro25LeuVAR_034562rs35460768
38VHLp.Leu63ProVAR_034987
39VHLp.Arg64ProVAR_034988
40VHLp.Ser65AlaVAR_034989
41VHLp.Arg107GlyVAR_034991
42VHLp.Ala122IleVAR_034993
43VHLp.Ile147ThrVAR_034996
44VHLp.Tyr156AsnVAR_034997
45VHLp.Leu198GlnVAR_035001

Clinvar genetic disease variations for Pheochromocytoma:

1 (show all 32)
id Gene Name Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
2SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)single nucleotide variantLikely pathogenic, Pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
3SDHBSDHB, 1-BP DEL, 725CdeletionPathogenic
4SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
5SDHBSDHB, 4-BP DEL, 847NTdeletionPathogenic
6SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
7SDHBNM_003000.2(SDHB): c.136C> G (p.Arg46Gly)single nucleotide variantPathogenicrs74315370GRCh37Chr 1, 17371320: 17371320
8SDHBNM_003000.2(SDHB): c.302G> A (p.Cys101Tyr)single nucleotide variantPathogenicrs74315371GRCh37Chr 1, 17355216: 17355216
9SDHBNM_003000.2(SDHB): c.299C> T (p.Ser100Phe)single nucleotide variantPathogenicrs121917755GRCh37Chr 1, 17355219: 17355219
10SDHBNM_003000.2(SDHB): c.487T> C (p.Ser163Pro)single nucleotide variantBenign, Likely benign, Pathogenicrs33927012GRCh37Chr 1, 17354297: 17354297
11RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
12RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
13RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
14RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
15RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
16RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
17RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
18RETNM_020975.4(RET): c.2753T> C (p.Met918Thr)single nucleotide variantPathogenicrs74799832GRCh37Chr 10, 43617416: 43617416
19RETNM_020975.4(RET): c.2372A> T (p.Tyr791Phe)single nucleotide variantBenign, Likely benign, Pathogenicrs77724903GRCh37Chr 10, 43613908: 43613908
20VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
21VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)single nucleotide variantPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
22VHLNM_000551.3(VHL): c.191G> C (p.Arg64Pro)single nucleotide variantPathogenicrs104893826GRCh37Chr 3, 10183722: 10183722
23VHLNM_000551.3(VHL): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs104893827GRCh37Chr 3, 10183719: 10183719
24VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
25KIF1BNM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn)single nucleotide variantPathogenic, risk factorrs121908164GRCh37Chr 1, 10425534: 10425534
26SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
27SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantBenign, Pathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
28SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
29SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
30SDHDNM_003002.3(SDHD): c.149A> G (p.His50Arg)single nucleotide variantLikely benign, Pathogenic, Uncertain significancers11214077GRCh37Chr 11, 111958677: 111958677
31SDHDNM_003002.3(SDHD): c.33C> A (p.Cys11Ter)single nucleotide variantPathogenicrs104894309GRCh37Chr 11, 111957664: 111957664
32SDHDNM_003002.3(SDHD): c.14G> A (p.Trp5Ter)single nucleotide variantPathogenicrs104894310GRCh37Chr 11, 111957645: 111957645

Expression for genes affiliated with Pheochromocytoma

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pheochromocytoma

Search GEO for disease gene expression data for Pheochromocytoma.

Pathways for genes affiliated with Pheochromocytoma

About this section
Sources:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB
See all sources

Pathways related to Pheochromocytoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.3EPAS1, VHL
2
Show member pathways
Alzheimers Disease38
10.1SDHD, SDHC, SDHA, SDHB
310.1RET, VHL, MAX, EPAS1
4
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
10.0IDH2, SDHB, SDHD, SDHC, SDHA
5
Show member pathways
10.0SDHB, SDHD, SDHC, SDHA, IDH2
6
Show member pathways
TCA cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
10.0SDHA, SDHC, SDHD, SDHB, IDH2

Compounds for genes affiliated with Pheochromocytoma

About this section
Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 51PharmGKB
See all sources

Compounds related to Pheochromocytoma according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone45 1111.7SDHA, SDHB
2fumarate45 1111.6VHL, SDHC, SDHD, SDHB
3Ubiquinol 82410.6SDHB, SDHA
4Fumaric acid2410.6SDHA, SDHC, SDHD, SDHB
5mibg4510.6SDHB, SDHD, ADM, SST
6succinic acid29 24 1112.6SDHB, SDHD, SDHC, SDHA
7iron-sulfur4510.6SDHB, SDHD, SDHC, SDHA
8ubiquinone4510.6SDHB, SDHD, SDHC, SDHA
9Sulfide2410.5SDHB, SDHD, SDHC, SDHA
10QH22410.5SDHB, SDHD, SDHC, SDHA
11Ubiquinone Q22410.5SDHA, SDHC, SDHD, SDHB
12Ubiquinone Q12410.5SDHB, SDHD, SDHC, SDHA
13FAD2410.5SDHA, SDHC, SDHD, SDHB
14cobalt chloride4510.5VHL, ADM
15norepinephrine45 24 1112.4SST, ADM, SDHB, GDNF
16ly2940024510.4VHL, RET, TNC, GDNF
17wortmannin4510.4GDNF, TNC, ADM, RET
18actinomycin d4510.4VHL, ADM, TNC, GDNF
19catecholamine4510.4GDNF, SDHB, SDHD, EPAS1, ADM, RET
20potassium45 24 1112.4GDNF, ADM, STC1, VHL
21dopamine45 29 24 1113.4GDNF, SDHB, RET, SST, NF1
22forskolin45 51 1112.3GDNF, ADM, MAX, NF1
23choline45 24 1112.3SST, RET, GDNF
24paraffin4510.3NF1, RET, ADM, TNC
25succinate4510.3NF1, SDHB, SDHD, SDHC, SDHA, RET
26arginine4510.3NF1, SST, RET, ADM, SDHB
27oligonucleotide4510.3GDNF, TNC, ADM, RET, VHL, NF1
28phosphatidylinositol4510.3GDNF, TNC, ADM, RET, VHL, NF1
29gtp45 2911.3NF1, STC1, ADM, GDNF
30iron45 2411.3GDNF, SDHB, SDHD, SDHC, SDHA, EPAS1
31atp45 2911.3GDNF, SDHB, ADM, RET, STC1, NF1
32cysteine4510.3GDNF, TNC, SDHB, ADM, RET, NF1
33dexamethasone45 51 29 1113.3GDNF, TNC, ADM, STC1, SST
34heparan sulfate45 2411.2RET, TNC, GDNF
35superoxide45 2411.2GDNF, SDHB, SDHC, ADM
36alanine4510.2GDNF, SDHB, ADM, RET, NF1
37sunitinib45 51 1112.2VHL, RET
38oxygen45 2411.2GDNF, SDHB, SDHD, SDHC, SDHA, EPAS1
39lipid4510.2GDNF, TNC, SDHB, EPAS1, ADM, RET
40retinoic acid45 2411.2GDNF, TNC, SDHC, ADM, RET, SST
41estrogen4510.1GDNF, TNC, ADM, STC1, MEN1, VHL
42creatinine4510.1GDNF, TNC, SDHB, ADM
43cyclic amp45 2411.1NF1, RET, ADM, GDNF
44serine4510.1GDNF, TNC, RET, STC1, MEN1, VHL
45glucose4510.1GDNF, SDHB, EPAS1, ADM, UTS2R, STC1
46tyrosine4510.0GDNF, TNC, SDHB, EPAS1, ADM, RET
47calcium45 51 24 1112.9GDNF, TNC, SDHB, UTS2R, RET, STC1
48vegf459.8GDNF, TNC, SDHB, SDHC, EPAS1, ADM
49adenylate459.8GDNF, ADM, SST, NF1

GO Terms for genes affiliated with Pheochromocytoma

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Pheochromocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.0SDHA, SDHC, SDHD, SDHB
2mitochondrionGO:0057399.9KIF1B, VHL, SDHA, SDHC, SDHD, SDHB
3mitochondrial inner membraneGO:0057439.7IDH2, SDHB, SDHD, SDHC, SDHA

Biological processes related to Pheochromocytoma according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:00610510.5SDHB, SDHA
2positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.5RET, NF1
3enteric nervous system developmentGO:04848410.4RET, GDNF
4aerobic respirationGO:00906010.4SDHC, SDHB
5MAPK cascadeGO:00016510.4NF1, MEN1, RET
6respiratory electron transport chainGO:02290410.4SDHB, SDHD, SDHC, SDHA
7cellular response to hypoxiaGO:07145610.4VHL, STC1, EPAS1
8tricarboxylic acid cycleGO:00609910.3SDHA, SDHC, SDHD, SDHB, IDH2
9cellular metabolic processGO:04423710.3IDH2, SDHB, SDHD, SDHC, SDHA
10sympathetic nervous system developmentGO:04848510.3NF1, GDNF
11metanephros developmentGO:00165610.3NF1, GDNF
12negative regulation of cell proliferationGO:00828510.3TMEM127, ADM, SST, MEN1, VHL
13response to hypoxiaGO:00166610.2EPAS1, ADM, NF1
14regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.0VHL, EPAS1
15signal transductionGO:0071659.9GDNF, EPAS1, ADM, UTS2R, RET

Molecular functions related to Pheochromocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00817710.3SDHA, SDHB
2succinate dehydrogenase activityGO:00010410.3SDHA, SDHC, SDHD
3ubiquinone bindingGO:04803910.2SDHB, SDHD
4hormone activityGO:00517910.1SST, STC1, ADM
5electron carrier activityGO:0090559.9SDHC, SDHD, SDHB

Products for genes affiliated with Pheochromocytoma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pheochromocytoma

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet