MCID: PHC003
MIFTS: 80

Pheochromocytoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Pheochromocytoma

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MedlinePlus:33 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 based summary: Pheochromocytoma, also known as chromaffin paraganglioma, is related to paraganglioma and hereditary paraganglioma-pheochromocytoma syndromes, and has symptoms including 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:42 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:46 171300

Aliases & Classifications for Pheochromocytoma

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Sources:
65Wikipedia, 42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 33MedlinePlus, 62UMLS
See all sources

Pheochromocytoma, Aliases & Descriptions:

Name: Pheochromocytoma 65 42 22 46 44 33 62
Chromaffin Paraganglioma 42 62
Chromaffin Cell Tumor 42 62
Bilateral Pheochromocytoma and Islet Cell Adenoma of the Pancreas 62
 
Paraganglioma, Medullary 62
Medullary Paraganglioma 42
Chromaffin Tumor 42
Chromaffinoma 42


Classifications:

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


Related Diseases for Pheochromocytoma

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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 245)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma32.3SDHB, SDHD, VHL
2hereditary paraganglioma-pheochromocytoma syndromes31.8SDHB, SDHD, SDHC
3neurofibromatosis31.6SDHB, SDHD, NF1
4von hippel-lindau disease31.6SDHB, SDHD, SDHC, NF1, VHL, MEN1
5multiple endocrine neoplasia31.5RET, SDHC, SDHD, SDHB, GDNF, MEN1
6adenoma31.4GDNF, TNC, RET, SST, MEN1, VHL
7cushing's syndrome31.3RET, SST, MEN1
8multiple endocrine neoplasia type 2a31.2NF1, VHL, MEN1, RET, SDHC, SDHD
9hyperparathyroidism31.2SDHB, SDHD, SDHC, RET, MEN1, NF1
10familial medullary thyroid carcinoma31.1RET, GDNF
11wdha syndrome31.0SST
12primary hyperparathyroidism31.0RET, MEN1
13neuroma31.0RET, GDNF
14adrenal adenoma31.0MEN1, ADM
15gastrointestinal stromal tumor31.0SDHB, SDHC, SDHA, NF1
16carotid body tumor31.0SDHC, SDHD, SDHB
17pancreatic islet cell tumors30.9RET, SST, MEN1
18neuroendocrine tumor30.9GDNF, SDHD, RET, SST, MEN1, NF1
19adrenal cortical adenoma30.9MEN1, ADM, SDHC, SDHD, SDHB, VHL
20acute myocarditis30.9TNC
21paragangliomas 130.9RET, SDHB
22carney triad30.8SDHC, SDHD, SDHB
23thyroid medullary carcinoma30.8GDNF, TNC, RET, SST, MEN1, VHL
24pituitary adenoma30.8GDNF, ADM, RET, SST, MEN1
25erythrocytosis30.8VHL
26adenocarcinoma30.8TNC, ADM, SST, MEN1, VHL
27phaeochromocytoma30.7SDHB, SDHD, SDHC, ADM, RET
28carcinoid syndrome30.7MEN1, SST, RET, SDHD
29parathyroid adenoma30.7RET, MEN1
30somatostatinoma30.6SST
31paraganglioma and gastric stromal sarcoma30.6SDHC, SDHD, SDHB
32hemangioma30.6SDHB, SDHD, SDHC, RET, MEN1, VHL
33neuroectodermal tumor30.6NF1, GDNF
34zollinger-ellison syndrome30.5MEN1, SST
35hyperthyroidism30.5SDHB, SDHA, ADM, SST
36merkel cell carcinoma30.5TNC, SST
37glucagonoma30.5SST, MEN1
38ischemia30.4GDNF, TNC, SDHB, ADM
39renal agenesis30.4GDNF, RET
40breast cancer30.2TNC, SDHB, SDHC, EPAS1, ADM, STC1
41leukemia30.1NF1, MEN1, STC1, IDH2, GDNF
42sporadic pheochromocytoma10.6
43paragangliomas 510.6SDHA
44thyroiditis10.6
45hypertension10.6
46extra-adrenal pheochromocytoma10.6
47central hypoventilation syndrome10.6GDNF
48ganglioneuroma10.6
49chondroma10.6SDHC, SDHD, SDHB
50leiomyomatosis10.6SDHB, VHL

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to pheochromocytoma

Symptoms for Pheochromocytoma

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Symptoms by clinical synopsis from OMIM:

171300

Clinical features from OMIM:

171300

HPO human phenotypes related to Pheochromocytoma:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 proteinuria HP:0000093
3 congenital cataract HP:0000519
4 episodic hypertension HP:0000875
5 cafe-au-lait spot HP:0000957
6 hyperhidrosis HP:0000975
7 hemangioma HP:0001028
8 hypertensive retinopathy HP:0001095
9 cerebral hemorrhage HP:0001342
10 congestive heart failure HP:0001635
11 tachycardia HP:0001649
12 renal artery stenosis HP:0001920
13 neoplasm HP:0002664
14 pheochromocytoma HP:0002666
15 hypercalcemia HP:0003072
16 elevated urinary norepinephrine HP:0003345
17 positive regitine blocking test HP:0003574

Drugs & Therapeutics for Pheochromocytoma

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Drug clinical trials:

Search ClinicalTrials for Pheochromocytoma

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Pheochromocytoma

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Genetic tests related to Pheochromocytoma:

id Genetic test Affiliating Genes
1 Pheochromocytoma22

Anatomical Context for Pheochromocytoma

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MalaCards organs/tissues related to Pheochromocytoma:

32
Adrenal gland, Testes, Thyroid, Heart, Pancreas, Kidney, Pituitary, Bone, Endothelial, Brain, Liver, Pancreatic islet, Lung, Eye, Cortex, Retina, Colon, Adipocyte, Breast, Skin, Prostate, B cells, Adrenal cortex

Animal Models for Pheochromocytoma or affiliated genes

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MGI Mouse Phenotypes related to Pheochromocytoma:

36 (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

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Articles related to Pheochromocytoma:

(show top 50)    (show all 1263)
idTitleAuthorsYear
1
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation. (25389632)
2014
2
Acrocyanosis in a young adult: a rare presentation of extra-adrenal pheochromocytoma. (24872481)
2014
3
Pediatric pheochromocytoma and paraganglioma: an update. (25373696)
2014
4
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. (25275255)
2014
5
Multiple Components of the VHL Tumor Suppressor Complex Are Frequently Affected by DNA Copy Number Loss in Pheochromocytoma. (25298778)
2014
6
Tako-tsubo-like cardiomyopathy induced by pheochromocytoma crisis. (24064103)
2013
7
Pheochromocytoma presenting as diabetes insipidus. (24382904)
2013
8
Pheochromocytoma causing cardiomyopathy, ischemic stroke and acute arterial thrombosis: a case report and review of the literature. (23513638)
2013
9
Laparoscopic treatment of pheochromocytomas smaller or larger than 6 cm A clinical retrospective study on 44 patients. Laparoscopic adrenalectomy for pheochromocytoma. (23093462)
2013
10
Effect of carnosine and related compounds on proliferation of cultured rat pheochromocytoma PC-12 cells. (23330110)
2012
11
A rare case of hypertrophic obstructive cardiomyopathy posted for adrenalectomy for pheochromocytoma. (22701220)
2012
12
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma. (22274720)
2012
13
Recurrent left ventricular apical ballooning syndrome in a patient with pheochromocytoma. (23449065)
2012
14
Current role of metaiodobenzylguanidine in the diagnosis of pheochromocytoma and medullary thyroid cancer. (21803186)
2011
15
Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma. (21742610)
2011
16
Management of paroxysmal hypertension due to incidental pheochromocytoma in pregnancy. (21887038)
2011
17
SDH-related pheochromocytoma and paraganglioma. (20833333)
2010
18
The Warburg effect is genetically determined in inherited pheochromocytomas. (19763184)
2009
19
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. (22980466)
2008
20
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. (18584357)
2008
21
Detection and treatment of pheochromocytomas and paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging. (19088695)
2008
22
An analysis of the biochemical diagnosis of 66 pheochromocytomas. (17468193)
2007
23
Mutation screening of VHL gene in a Chinese family with nonsyndromic pheochromocytoma]. (17680521)
2007
24
Association of pheochromocytoma and ganglioneuroma: unusual finding in neurofibromatosis type 1. (17954422)
2007
25
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. (16787982)
2006
26
Familial nonsyndromic pheochromocytoma. (17102081)
2006
27
High plasma levels of human chromogranin A and adrenomedullin in patients with pheochromocytoma. (15850005)
2005
28
Adrenal pheochromocytoma with contralateral cortisol-producing adrenal adenoma: diagnostic and therapeutic management. (16001333)
2005
29
Expression of adrenomedullin and its receptor mRNA in the tissues of normal adrenal medulla and pheochromocytoma]. (16178438)
2005
30
A technique for preparing protein gradients on polymeric surfaces: effects on PC12 pheochromocytoma cells. (15522750)
2005
31
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
32
Evidence that the chromogranin B fragment 368-417 extracted from a pheochromocytoma is phosphorylated. (11514034)
2001
33
Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. (9626157)
1998
34
Biosynthesis and degradation of bioactive fatty acid amides in human breast cancer and rat pheochromocytoma cells--implications for cell proliferation and differentiation. (9688276)
1998
35
Plasma chromogranin A in pheochromocytoma, primary hyperparathyroidism and pituitary adenoma in comparison with catecholamine, parathyroid hormone and pituitary hormones. (9228469)
1997
36
Comparative study between normal rat chromaffin and PC12 rat pheochromocytoma cells: production and effects of corticotropin-releasing hormone. (9003004)
1997
37
Castleman's disease in a 44-year-old male with neurofibromatosis and pheochromocytoma. (9477139)
1997
38
Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. (8810737)
1996
39
Hypokalemia in a patient with pheochromocytoma. (15251511)
1996
40
Remarkably suppressed manganese superoxide dismutase activity in malignant pheochromocytoma. (7752317)
1995
41
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
42
Pituitary adenylate cyclase-activating polypeptide autoregulates cAMP production due to activation of protein kinase C in PC12 pheochromocytoma cells. (7759058)
1995
43
Elevated immunoreactive endothelin levels in patients with pheochromocytoma. (7986462)
1994
44
Growth factors differentially stimulate the phosphorylation of Shc proteins and their association with Grb2 in PC-12 pheochromocytoma cells. (8288573)
1994
45
In vitro and in vivo detection of somatostatin receptors in pheochromocytomas and paragangliomas. (1349024)
1992
46
A case of pheochromocytoma producing parathyroid hormone-related protein and presenting with hypercalcemia. (2347892)
1990
47
Effect of compounds which disrupt proton gradients on secretion of neurosecretory proteins from PC12 pheochromocytoma cells. (2175857)
1990
48
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
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

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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:

6 (show all 50)
id Gene Name Type Significance SNP ID Assembly Location
1TMEM127NM_017849.3(TMEM127): c.410-2A> Csingle nucleotide variantLikely pathogenicrs121908826GRCh37Chr 2, 96919855: 96919855
2TMEM127NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter)single nucleotide variantLikely pathogenicrs121908830GRCh37Chr 2, 96919788: 96919788
3TMEM127NM_017849.3(TMEM127): c.245-1G> Tsingle nucleotide variantLikely pathogenicrs121908821GRCh37Chr 2, 96920736: 96920736
4TMEM127NM_017849.3(TMEM127): c.149dupA (p.Pro51Alafs)duplicationLikely pathogenicrs121908817GRCh37Chr 2, 96930970: 96930971
5TMEM127NM_017849.3(TMEM127): c.-18C> Tsingle nucleotide variantLikely pathogenicrs121908813GRCh37Chr 2, 96931137: 96931137
6TMEM127NM_017849.3(TMEM127): c.116_119delTGTC (p.Ile41Argfs)deletionLikely pathogenicrs121908816GRCh37Chr 2, 96931001: 96931004
7TMEM127NM_017849.3(TMEM127): c.158G> C (p.Trp53Ser)single nucleotide variantLikely pathogenicrs121908818GRCh37Chr 2, 96930962: 96930962
8TMEM127NM_017849.3(TMEM127): c.208G> A (p.Asp70Asn)single nucleotide variantLikely pathogenicrs121908819GRCh37Chr 2, 96930912: 96930912
9TMEM127NM_017849.3(TMEM127): c.217G> C (p.Gly73Arg)single nucleotide variantLikely pathogenicrs121908820GRCh37Chr 2, 96930903: 96930903
10TMEM127NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs)deletionLikely pathogenicrs121908822GRCh37Chr 2, 96920712: 96920715
11TMEM127NM_017849.3(TMEM127): c.280C> T (p.Arg94Trp)single nucleotide variantLikely pathogenicrs121908824GRCh37Chr 2, 96920700: 96920700
12TMEM127NM_017849.3(TMEM127): c.3G> T (p.Met1Ile)single nucleotide variantLikely pathogenicrs121908814GRCh37Chr 2, 96931117: 96931117
13TMEM127NM_017849.3(TMEM127): c.409+1G> Tsingle nucleotide variantLikely pathogenicrs121908825GRCh37Chr 2, 96920570: 96920570
14TMEM127NM_017849.3(TMEM127): c.418T> C (p.Cys140Arg)single nucleotide variantLikely pathogenicrs121908827GRCh37Chr 2, 96919845: 96919845
15TMEM127NM_017849.3(TMEM127): c.419G> A (p.Cys140Tyr)single nucleotide variantLikely pathogenicrs121908828GRCh37Chr 2, 96919844: 96919844
16TMEM127NM_017849.3(TMEM127): c.447G> A (p.Trp149Ter)single nucleotide variantLikely pathogenicrs121908829GRCh37Chr 2, 96919816: 96919816
17TMEM127NM_017849.3(TMEM127): c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs)duplicationLikely pathogenicrs121908831GRCh37Chr 2, 96919623: 96919636
18TMEM127NM_017849.3(TMEM127): c.76C> T (p.Gln26Ter)single nucleotide variantLikely pathogenicrs121908815GRCh37Chr 2, 96931044: 96931044
19SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
20SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)single nucleotide variantLikely pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
21SDHBSDHB, 1-BP DEL, 725CdeletionPathogenic
22SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
23SDHBSDHB, 4-BP DEL, 847NTdeletionPathogenic
24SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
25SDHBNM_003000.2(SDHB): c.136C> G (p.Arg46Gly)single nucleotide variantPathogenicrs74315370GRCh37Chr 1, 17371320: 17371320
26SDHBNM_003000.2(SDHB): c.302G> A (p.Cys101Tyr)single nucleotide variantPathogenicrs74315371GRCh37Chr 1, 17355216: 17355216
27SDHBNM_003000.2(SDHB): c.299C> T (p.Ser100Phe)single nucleotide variantPathogenicrs121917755GRCh37Chr 1, 17355219: 17355219
28TMEM127NM_017849.3(TMEM127): c.268G> A (p.Val90Met)single nucleotide variantLikely pathogenicrs121908823GRCh37Chr 2, 96920712: 96920712
29RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
30RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
31RETNM_020975.4(RET): c.1901G> A (p.Cys634Tyr)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
32RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
33RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
34RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
35RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
36RETNM_020975.4(RET): c.2753T> C (p.Met918Thr)single nucleotide variantPathogenicrs74799832GRCh37Chr 10, 43617416: 43617416
37VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
38VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)single nucleotide variantPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
39VHLNM_000551.3(VHL): c.191G> C (p.Arg64Pro)single nucleotide variantPathogenicrs104893826GRCh37Chr 3, 10183722: 10183722
40VHLNM_000551.3(VHL): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs104893827GRCh37Chr 3, 10183719: 10183719
41VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
42SDHBNM_003000.2(SDHB): c.32G> A (p.Arg11His)single nucleotide variantLikely pathogenicrs111430410GRCh37Chr 1, 17380483: 17380483
43SDHBNM_003000.2(SDHB): c.423+20T> Asingle nucleotide variantLikely pathogenicrs190139590GRCh37Chr 1, 17355075: 17355075
44KIF1BNM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn)single nucleotide variantPathogenicrs121908164GRCh37Chr 1, 10425534: 10425534
45SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
46SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
47SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
48SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
49SDHDNM_003002.3(SDHD): c.33C> A (p.Cys11Ter)single nucleotide variantPathogenicrs104894309GRCh37Chr 11, 111957664: 111957664
50SDHDNM_003002.3(SDHD): c.14G> A (p.Trp5Ter)single nucleotide variantPathogenicrs104894310GRCh37Chr 11, 111957645: 111957645

Expression for genes affiliated with Pheochromocytoma

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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

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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 Disease37
10.1SDHD, SDHC, SDHA, SDHB
310.1RET, VHL, MAX, EPAS1
4
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
10.0IDH2, SDHB, SDHD, SDHC, SDHA
5
Show member pathways
10.0SDHB, SDHD, SDHC, SDHA, IDH2
6
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
10.0SDHA, SDHC, SDHD, SDHB, IDH2

Compounds for genes affiliated with Pheochromocytoma

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 50PharmGKB
See all sources

Compounds related to Pheochromocytoma according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1111.7SDHA, SDHB
2fumarate44 1111.6VHL, SDHC, SDHD, SDHB
3Ubiquinol 82410.6SDHB, SDHA
4Fumaric acid2410.6SDHA, SDHC, SDHD, SDHB
5mibg4410.6SDHB, SDHD, ADM, SST
6succinic acid28 24 1112.6SDHB, SDHD, SDHC, SDHA
7iron-sulfur4410.6SDHB, SDHD, SDHC, SDHA
8ubiquinone4410.6SDHB, 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 chloride4410.5VHL, ADM
15norepinephrine44 24 1112.4SST, ADM, SDHB, GDNF
16ly2940024410.4VHL, RET, TNC, GDNF
17wortmannin4410.4GDNF, TNC, ADM, RET
18actinomycin d4410.4VHL, ADM, TNC, GDNF
19catecholamine4410.4GDNF, SDHB, SDHD, EPAS1, ADM, RET
20potassium44 24 1112.4GDNF, ADM, STC1, VHL
21dopamine44 28 24 1113.4GDNF, SDHB, RET, SST, NF1
22forskolin44 50 1112.3GDNF, ADM, MAX, NF1
23choline44 24 1112.3SST, RET, GDNF
24paraffin4410.3NF1, RET, ADM, TNC
25succinate4410.3NF1, SDHB, SDHD, SDHC, SDHA, RET
26arginine4410.3NF1, SST, RET, ADM, SDHB
27oligonucleotide4410.3GDNF, TNC, ADM, RET, VHL, NF1
28phosphatidylinositol4410.3GDNF, TNC, ADM, RET, VHL, NF1
29gtp44 2811.3NF1, STC1, ADM, GDNF
30iron44 2411.3GDNF, SDHB, SDHD, SDHC, SDHA, EPAS1
31atp44 2811.3GDNF, SDHB, ADM, RET, STC1, NF1
32cysteine4410.3GDNF, TNC, SDHB, ADM, RET, NF1
33dexamethasone44 50 28 1113.3GDNF, TNC, ADM, STC1, SST
34heparan sulfate44 2411.2RET, TNC, GDNF
35superoxide44 2411.2GDNF, SDHB, SDHC, ADM
36alanine4410.2GDNF, SDHB, ADM, RET, NF1
37sunitinib44 50 1112.2VHL, RET
38oxygen44 2411.2GDNF, SDHB, SDHD, SDHC, SDHA, EPAS1
39lipid4410.2GDNF, TNC, SDHB, EPAS1, ADM, RET
40retinoic acid44 2411.2GDNF, TNC, SDHC, ADM, RET, SST
41estrogen4410.1GDNF, TNC, ADM, STC1, MEN1, VHL
42creatinine4410.1GDNF, TNC, SDHB, ADM
43cyclic amp44 2411.1NF1, RET, ADM, GDNF
44serine4410.1GDNF, TNC, RET, STC1, MEN1, VHL
45glucose4410.1GDNF, SDHB, EPAS1, ADM, UTS2R, STC1
46tyrosine4410.0GDNF, TNC, SDHB, EPAS1, ADM, RET
47calcium44 50 24 1112.9GDNF, TNC, SDHB, UTS2R, RET, STC1
48vegf449.8GDNF, TNC, SDHB, SDHC, EPAS1, ADM
49adenylate449.8GDNF, ADM, SST, NF1

GO Terms for genes affiliated with Pheochromocytoma

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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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pheochromocytoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet