MCID: PHC003
MIFTS: 79

Pheochromocytoma malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Summaries for Pheochromocytoma

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MedlinePlus:32 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 bilateral pheochromocytoma and islet cell adenoma of the pancreas, is related to paraganglioma and hereditary paraganglioma-pheochromocytoma syndromes, and has symptoms including autosomal dominant inheritance, proteinuria and congenital cataract. 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 heart, and related mouse phenotypes are tumorigenesis and embryogenesis.

NIH Rare Diseases:41 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

OMIM:45 Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10%... (171300) more...

Wikipedia:63 A pheochromocytoma (from Greek phaios \"dark\", chroma \"color\", kytos \"cell\", -oma \"tumor\") or... more...

Aliases & Classifications for Pheochromocytoma

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Pheochromocytoma, Aliases & Descriptions:

Name: Pheochromocytoma 45 10 63 41 43 22 32 60
Bilateral Pheochromocytoma and Islet Cell Adenoma of the Pancreas 60
Sdhx-Related Paraganglioma-Pheochromocytoma 41
Hereditary Pheochromocytoma-Paraganglioma 41
Familial Pheochromocytoma-Paraganglioma 41
Pheochromocytoma, Modifier of 45
Sympathetic Paraganglioma 60
 
Chromaffin Cell Neoplasm 60
Chromaffin Paraganglioma 41
Medullary Paraganglioma 41
Chromaffin Cell Tumor 41
Chromaffin Tumor 41
Chromaffinoma 41


Classifications:

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


External Ids:

OMIM45 171300

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 Suite gene sharing:

(show top 50)    (show all 239)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma32.3SDHB, RET
2hereditary paraganglioma-pheochromocytoma syndromes31.8SDHC, SDHD, SDHB
3multiple endocrine neoplasia31.6GDNF, SDHB, SDHD, SDHC, RET, MEN1
4neurofibromatosis31.5RET, VHL, SDHB, NF1, SDHD, SDHC
5adenoma31.4TNC, VHL, RET, MEN1, SST, GDNF
6paragangliomas 1, with or without deafness31.4SDHD, SDHC, SDHB
7cushing's syndrome31.4MEN1, SST, RET
8von hippel-lindau syndrome31.3NF1, VHL, SDHB, SDHD, SDHC, TMEM127
9hyperparathyroidism31.3NF1, SDHC, RET, MEN1, SDHD, SDHB
10thyroid cancer31.1RET, SST, TNC
11adrenal adenoma31.1MEN1, ADM
12islet cell tumor31.0MEN1, RET, SST
13neuroma31.0GDNF, RET
14gastrointestinal stromal tumor31.0NF1, SDHA, SDHC, SDHB
15multiple endocrine neoplasia iia31.0GDNF, SDHB, SDHD, SDHC, RET, MEN1
16primary hyperparathyroidism31.0MEN1, RET
17neuroendocrine tumor30.9NF1, SST, RET, SDHD, GDNF, MEN1
18pituitary adenoma30.9ADM, GDNF, SST, MEN1, RET
19adrenal cortical adenoma30.9SDHC, SDHD, ADM, MEN1, VHL, SDHB
20acute myocarditis30.9TNC
21carney triad30.8SDHB, SDHD, SDHC
22adenocarcinoma30.8SST, VHL, MEN1, ADM, TNC
23phaeochromocytoma30.8SDHB, SDHD, ADM, RET, SDHC
24carcinoid syndrome30.7SDHD, RET, SST, MEN1
25parathyroid adenoma30.7RET, MEN1
26hemangioma30.6MEN1, NF1, RET, SDHC, SDHD, VHL
27somatostatinoma30.6SST
28paraganglioma and gastric stromal sarcoma30.6SDHC, SDHB, SDHD
29neuroectodermal tumor30.6NF1, GDNF
30hyperthyroidism30.5SDHA, ADM, SDHB, SST
31zollinger-ellison syndrome30.5MEN1, SST
32merkel cell carcinoma30.5TNC, SST
33glucagonoma30.5MEN1, SST
34ischemia30.5TNC, SDHB, ADM, GDNF
35breast cancer30.2STC1, ADM, SDHC, SDHB, MEN1, VHL
36leukemia30.2IDH2, NF1, MEN1, STC1, GDNF
37sporadic pheochromocytoma10.7
38paragangliomas 510.6SDHA
39thyroiditis10.6
40extra-adrenal pheochromocytoma10.6
41ganglioneuroma10.6
42medullary thyroid carcinoma, familial10.6GDNF, RET
43glomus tumor10.6SDHD, SDHB, VHL
44chondroma10.6SDHD, SDHB, SDHC
45central hypoventilation syndrome, congenital10.6GDNF
46hyperparathyroidism-jaw tumor syndrome10.6MEN1, RET
47parathyroid gland disease10.6MEN1, RET
48renal dysplasia10.6GDNF, RET
49parathyroid carcinoma10.6RET, MEN1
50leiomyomatosis10.6VHL, SDHB

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 UMLS60/NDF-RT39:

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:

31
Adrenal gland, Testes, Heart, Thyroid, Pancreas, Kidney, Pituitary, Bone, Endothelial, Brain, Liver, Lung, Pancreatic islet, Eye, Cortex, Retina, Colon, Adipocyte, Breast, Skin, Ovary, Prostate, B cells, Adrenal cortex

Animal Models for Pheochromocytoma or affiliated genes

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MGI Mouse Phenotypes related to Pheochromocytoma:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.1NF1, VHL, MEN1, RET, SDHD
2MP:000538010.0SDHD, EPAS1, ADM, RET, MEN1, VHL
3MP:000537910.0GDNF, SDHD, RET, STC1, MEN1, VHL
4MP:000287310.0TNC, SDHD, RET, STC1, SST, VHL
5MP:00053859.9GDNF, SDHD, EPAS1, ADM, UTS2R, RET
6MP:00053699.9NF1, GDNF, EPAS1, ADM, UTS2R, RET
7MP:00053869.9GDNF, TNC, SDHD, ADM, RET, SST
8MP:00036319.8GDNF, TNC, SDHD, EPAS1, RET, SST
9MP:00053789.8GDNF, SDHD, EPAS1, RET, STC1, SST
10MP:00107689.8GDNF, SDHD, SDHC, EPAS1, ADM, RET
11MP:00053879.7GDNF, EPAS1, ADM, RET, SST, MEN1
12MP:00053769.7TNC, 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 1301)
idTitleAuthorsYear
1
Next-generation sequencing for the diagnosis of hereditary pheochromocytoma and paraganglioma syndromes. (25871962)
2015
2
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation. (25389632)
2014
3
Acrocyanosis in a young adult: a rare presentation of extra-adrenal pheochromocytoma. (24872481)
2014
4
Pediatric pheochromocytoma and paraganglioma: an update. (25373696)
2014
5
Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. (25275255)
2014
6
Multiple Components of the VHL Tumor Suppressor Complex Are Frequently Affected by DNA Copy Number Loss in Pheochromocytoma. (25298778)
2014
7
Tako-tsubo-like cardiomyopathy induced by pheochromocytoma crisis. (24064103)
2013
8
Pheochromocytoma presenting as diabetes insipidus. (24382904)
2013
9
Pheochromocytoma causing cardiomyopathy, ischemic stroke and acute arterial thrombosis: a case report and review of the literature. (23513638)
2013
10
Laparoscopic treatment of pheochromocytomas smaller or larger than 6 cm A clinical retrospective study on 44 patients. Laparoscopic adrenalectomy for pheochromocytoma. (23093462)
2013
11
Effect of carnosine and related compounds on proliferation of cultured rat pheochromocytoma PC-12 cells. (23330110)
2012
12
A rare case of hypertrophic obstructive cardiomyopathy posted for adrenalectomy for pheochromocytoma. (22701220)
2012
13
Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma. (22274720)
2012
14
Recurrent left ventricular apical ballooning syndrome in a patient with pheochromocytoma. (23449065)
2012
15
Current role of metaiodobenzylguanidine in the diagnosis of pheochromocytoma and medullary thyroid cancer. (21803186)
2011
16
Performance of plasma fractionated free metanephrines by enzyme immunoassay in the diagnosis of pheochromocytoma and paraganglioma. (21742610)
2011
17
Management of paroxysmal hypertension due to incidental pheochromocytoma in pregnancy. (21887038)
2011
18
A tissue microarray-based comparative analysis of novel and traditional immunohistochemical markers in the distinction between adrenal cortical lesions and pheochromocytoma. (20154585)
2010
19
SDH-related pheochromocytoma and paraganglioma. (20833333)
2010
20
An unusual association: pheochromocytoma on an atrophied adrenal gland due to addison's disease. (22980466)
2008
21
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. (18584357)
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:

62 (show all 52)
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
24TMEM127p.Val90MetVAR_063595rs121908823
25TMEM127p.Trp53SerVAR_072273
26TMEM127p.Asp70AsnVAR_072274
27TMEM127p.Gly73ArgVAR_072275
28TMEM127p.Arg94TrpVAR_072276
29TMEM127p.Cys140ArgVAR_072277
30TMEM127p.Cys140TyrVAR_072278
31VHLp.Ser68TrpVAR_005675
32VHLp.Ser80AsnVAR_005688rs5030805
33VHLp.Gly93CysVAR_005703rs5030808
34VHLp.Gly93SerVAR_005705rs5030808
35VHLp.Tyr98HisVAR_005707rs5030809
36VHLp.Phe119LeuVAR_005728
37VHLp.Phe136CysVAR_005737rs5030833
38VHLp.Tyr156CysVAR_005743
39VHLp.Arg161GlnVAR_005751
40VHLp.Arg161ProVAR_005752
41VHLp.Arg167GlnVAR_005761rs5030821
42VHLp.Arg167TrpVAR_005762rs5030820
43VHLp.Leu188ValVAR_005777rs5030824
44VHLp.Pro25LeuVAR_034562rs35460768
45VHLp.Leu63ProVAR_034987
46VHLp.Arg64ProVAR_034988
47VHLp.Ser65AlaVAR_034989
48VHLp.Arg107GlyVAR_034991
49VHLp.Ala122IleVAR_034993
50VHLp.Ile147ThrVAR_034996
51VHLp.Tyr156AsnVAR_034997
52VHLp.Leu198GlnVAR_035001

Clinvar genetic disease variations for Pheochromocytoma:

6 (show all 53)
id Gene Variation Type Significance SNP ID Assembly Location
1TMEM127NM_017849.3(TMEM127): c.410-2A> Csingle nucleotide variantLikely pathogenic, risk factorrs121908826GRCh37Chr 2, 96919855: 96919855
2TMEM127NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter)single nucleotide variantLikely pathogenic, risk factorrs121908830GRCh37Chr 2, 96919788: 96919788
3TMEM127NM_017849.3(TMEM127): c.245-1G> Tsingle nucleotide variantLikely pathogenic, risk factorrs121908821GRCh37Chr 2, 96920736: 96920736
4TMEM127NM_017849.3(TMEM127): c.149dupA (p.Pro51Alafs)duplicationLikely pathogenic, risk factorrs121908817GRCh37Chr 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 pathogenic, 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
37SDHDNM_003002.3(SDHD): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
38VHLNM_000551.3(VHL): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs5030820GRCh37Chr 3, 10191506: 10191506
39VHLNM_000551.3(VHL): c.562C> G (p.Leu188Val)single nucleotide variantPathogenicrs5030824GRCh37Chr 3, 10191569: 10191569
40VHLNM_000551.3(VHL): c.191G> C (p.Arg64Pro)single nucleotide variantPathogenicrs104893826GRCh37Chr 3, 10183722: 10183722
41VHLNM_000551.3(VHL): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs104893827GRCh37Chr 3, 10183719: 10183719
42VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
43SDHBNM_003000.2(SDHB): c.32G> A (p.Arg11His)single nucleotide variantLikely pathogenicrs111430410GRCh37Chr 1, 17380483: 17380483
44SDHBNM_003000.2(SDHB): c.423+20T> Asingle nucleotide variantLikely pathogenicrs190139590GRCh37Chr 1, 17355075: 17355075
45KIF1BNM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn)single nucleotide variantPathogenic, risk factorrs121908164GRCh37Chr 1, 10425534: 10425534
46SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
47SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
48SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
49SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
50SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
51SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630
52SDHDNM_003002.3(SDHD): c.33C> A (p.Cys11Ter)single nucleotide variantPathogenicrs104894309GRCh37Chr 11, 111957664: 111957664
53SDHDNM_003002.3(SDHD): c.14G> A (p.Trp5Ter)single nucleotide variantPathogenicrs104894310GRCh37Chr 11, 111957645: 111957645

Cosmic variations for Pheochromocytoma:

7 (show all 88)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
11237917RETthyroid,NS,carcinoma,medullary carcinoma3
287268RETthyroid,NS,carcinoma,medullary carcinoma3
326639RETthyroid,NS,carcinoma,medullary carcinoma3
41223553RETthyroid,NS,carcinoma,medullary carcinoma3
529803RETthyroid,NS,carcinoma,medullary carcinoma3
6986RETthyroid,NS,carcinoma,medullary carcinoma3
71666664RETthyroid,NS,carcinoma,medullary carcinoma3
829805RETthyroid,NS,carcinoma,medullary carcinoma3
9978RETthyroid,NS,carcinoma,medullary carcinoma3
10249790RETthyroid,NS,carcinoma,medullary carcinoma3
11970RETthyroid,NS,carcinoma,medullary carcinoma3
12961RETthyroid,NS,carcinoma,medullary carcinoma3
13960RETthyroid,NS,carcinoma,medullary carcinoma3
1420890RETthyroid,NS,carcinoma,medullary carcinoma3
15963RETthyroid,NS,carcinoma,medullary carcinoma3
16980RETthyroid,NS,carcinoma,medullary carcinoma3
17958RETthyroid,NS,carcinoma,medullary carcinoma3
183738532RETthyroid,NS,carcinoma,medullary carcinoma3
191237919RETthyroid,NS,carcinoma,medullary carcinoma3
2029806RETthyroid,NS,carcinoma,medullary carcinoma3
211237916RETthyroid,NS,carcinoma,medullary carcinoma3
22971RETthyroid,NS,carcinoma,medullary carcinoma3
23964RETthyroid,NS,carcinoma,medullary carcinoma3
2426387RETthyroid,NS,carcinoma,medullary carcinoma3
2529804RETthyroid,NS,carcinoma,medullary carcinoma3
2620889RETthyroid,NS,carcinoma,medullary carcinoma3
27966RETthyroid,NS,carcinoma,medullary carcinoma3
2826634RETthyroid,NS,carcinoma,medullary carcinoma3
2926388RETthyroid,NS,carcinoma,medullary carcinoma3
30965RETthyroid,NS,carcinoma,medullary carcinoma3
31133167RETthyroid,NS,carcinoma,medullary carcinoma3
3220888RETthyroid,NS,carcinoma,medullary carcinoma3
3387266RETthyroid,NS,carcinoma,medullary carcinoma3
34959RETthyroid,NS,carcinoma,medullary carcinoma3
35249791RETthyroid,NS,carcinoma,medullary carcinoma3
36975RETthyroid,NS,carcinoma,medullary carcinoma3
3726389RETthyroid,NS,carcinoma,medullary carcinoma3
38249789RETthyroid,NS,carcinoma,medullary carcinoma3
3926637RETthyroid,NS,carcinoma,medullary carcinoma3
40974RETthyroid,NS,carcinoma,medullary carcinoma3
4121338RETthyroid,NS,carcinoma,medullary carcinoma3
421237918RETthyroid,NS,carcinoma,medullary carcinoma3
43498HRASthyroid,NS,carcinoma,medullary carcinoma3
44481HRASthyroid,NS,carcinoma,medullary carcinoma3
451732634HRASthyroid,NS,carcinoma,medullary carcinoma3
46489HRASthyroid,NS,carcinoma,medullary carcinoma3
47482HRASthyroid,NS,carcinoma,medullary carcinoma3
48496HRASthyroid,NS,carcinoma,medullary carcinoma3
49304967HRASthyroid,NS,carcinoma,medullary carcinoma3
50949379HRASthyroid,NS,carcinoma,medullary carcinoma3
51499HRASthyroid,NS,carcinoma,medullary carcinoma3
523736923HRASthyroid,NS,carcinoma,medullary carcinoma3
53521966HRASthyroid,NS,carcinoma,medullary carcinoma3
54486HRASthyroid,NS,carcinoma,medullary carcinoma3
55552KRASthyroid,NS,carcinoma,medullary carcinoma3
56554KRASthyroid,NS,carcinoma,medullary carcinoma3
57553KRASthyroid,NS,carcinoma,medullary carcinoma3
58520KRASthyroid,NS,carcinoma,medullary carcinoma3
5927159KRASthyroid,NS,carcinoma,medullary carcinoma3
60549KRASthyroid,NS,carcinoma,medullary carcinoma3
6119900KRASthyroid,NS,carcinoma,medullary carcinoma3
62518KRASthyroid,NS,carcinoma,medullary carcinoma3
6317666VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
6414320VHLthyroid,NS,carcinoma,medullary carcinoma3
6517662VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
6614311VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
6717665VHLadrenal gland,adrenal gland,pheochromocytoma,malignant3
681237927SF3B1thyroid,NS,carcinoma,medullary carcinoma3
691237928SF3B1thyroid,NS,carcinoma,medullary carcinoma3
70583NRASthyroid,NS,carcinoma,medullary carcinoma3
71584NRASthyroid,NS,carcinoma,medullary carcinoma3
721237731CBFA2T3thyroid,NS,carcinoma,medullary carcinoma3
731237754DISP2thyroid,NS,carcinoma,medullary carcinoma3
74192447CEP135thyroid,NS,carcinoma,medullary carcinoma3
751237709ANKRD27thyroid,NS,carcinoma,medullary carcinoma3
761237711ARNTthyroid,NS,carcinoma,medullary carcinoma3
771237714ATMthyroid,NS,carcinoma,medullary carcinoma3
781237785FGFR3thyroid,NS,carcinoma,medullary carcinoma3
79476BRAFthyroid,NS,carcinoma,medullary carcinoma3
801237979ZFHX2thyroid,NS,carcinoma,medullary carcinoma3
81329089NF1adrenal gland,adrenal gland,pheochromocytoma,benign3
821237888PIK3C2Athyroid,NS,carcinoma,medullary carcinoma3
831237906PTK6thyroid,NS,carcinoma,medullary carcinoma3
841237837MEN1thyroid,NS,carcinoma,medullary carcinoma3
851237986ZNF555thyroid,NS,carcinoma,medullary carcinoma3
8627887GNASadrenal gland,extraadrenal,pheochromocytoma,NS3
871237953TEX14thyroid,NS,carcinoma,medullary carcinoma3
881237972VBP1thyroid,NS,carcinoma,medullary carcinoma3

Expression for genes affiliated with Pheochromocytoma

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.3VHL, EPAS1
2
Show member pathways
Alzheimers Disease36
10.2SDHA, SDHC, SDHD, SDHB
310.2EPAS1, RET, VHL, MAX
4
Show member pathways
10.1IDH2, SDHB, SDHD, SDHC, SDHA
5
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
10.1IDH2, SDHB, SDHD, SDHC, SDHA
6
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36
10.1SDHA, SDHC, SDHD, SDHB, IDH2

Compounds for genes affiliated with Pheochromocytoma

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Sources:
43Novoseek, 12DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Pheochromocytoma according to GeneCards Suite gene sharing:

(show all 49)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone43 1211.7SDHA, SDHB
2fumarate43 1211.6VHL, SDHC, SDHD, SDHB
3Fumaric acid2410.6SDHA, SDHC, SDHD, SDHB
4mibg4310.6SDHB, SDHD, ADM, SST
5succinic acid28 24 1212.6SDHB, SDHD, SDHC, SDHA
6iron-sulfur4310.6SDHB, SDHD, SDHC, SDHA
7ubiquinone4310.6SDHB, SDHD, SDHC, SDHA
8Ubiquinol 82410.6SDHB, SDHA
9Sulfide2410.6SDHB, SDHD, SDHC, SDHA
10QH22410.6SDHB, SDHD, SDHC, SDHA
11Ubiquinone Q22410.6SDHA, SDHC, SDHD, SDHB
12Ubiquinone Q12410.6SDHB, SDHD, SDHC, SDHA
13FAD2410.5SDHA, SDHC, SDHD, SDHB
14cobalt chloride4310.5VHL, ADM
15norepinephrine43 24 1212.5SST, ADM, SDHB, GDNF
16ly2940024310.5VHL, RET, TNC, GDNF
17catecholamine4310.5GDNF, SDHB, SDHD, EPAS1, ADM, RET
18wortmannin4310.4GDNF, TNC, ADM, RET
19actinomycin d4310.4VHL, ADM, TNC, GDNF
20dopamine43 28 24 1213.4GDNF, SDHB, RET, SST, NF1
21potassium43 24 1212.4GDNF, ADM, STC1, VHL
22forskolin43 49 1212.4GDNF, ADM, MAX, NF1
23choline43 24 1212.4SST, RET, GDNF
24succinate4310.4NF1, SDHB, SDHD, SDHC, SDHA, RET
25paraffin4310.4NF1, RET, ADM, TNC
26oligonucleotide4310.4GDNF, TNC, ADM, RET, VHL, NF1
27phosphatidylinositol4310.3GDNF, TNC, ADM, RET, VHL, NF1
28iron43 2411.3GDNF, SDHB, SDHD, SDHC, SDHA, EPAS1
29arginine4310.3NF1, SST, RET, ADM, SDHB
30atp43 2811.3GDNF, SDHB, ADM, RET, STC1, NF1
31cysteine4310.3GDNF, TNC, SDHB, ADM, RET, NF1
32gtp43 2811.3NF1, STC1, ADM, GDNF
33dexamethasone43 49 28 1213.3GDNF, TNC, ADM, STC1, SST
34heparan sulfate43 2411.3RET, TNC, GDNF
35alanine4310.3GDNF, SDHB, ADM, RET, NF1
36superoxide43 2411.3GDNF, SDHB, SDHC, ADM
37oxygen43 2411.3GDNF, SDHB, SDHD, SDHC, SDHA, EPAS1
38lipid4310.2GDNF, TNC, SDHB, EPAS1, ADM, RET
39retinoic acid43 2411.2GDNF, TNC, SDHC, ADM, RET, SST
40sunitinib43 49 1212.2VHL, RET
41estrogen4310.2GDNF, TNC, ADM, STC1, MEN1, VHL
42serine4310.2GDNF, TNC, RET, STC1, MEN1, VHL
43glucose4310.2GDNF, SDHB, EPAS1, ADM, UTS2R, STC1
44creatinine4310.1GDNF, TNC, SDHB, ADM
45cyclic amp43 2411.1NF1, RET, ADM, GDNF
46tyrosine4310.1GDNF, TNC, SDHB, EPAS1, ADM, RET
47calcium43 49 24 1213.1GDNF, TNC, SDHB, UTS2R, RET, STC1
48vegf439.9GDNF, TNC, SDHB, SDHC, EPAS1, ADM
49adenylate439.8GDNF, ADM, SST, NF1

GO Terms for genes affiliated with Pheochromocytoma

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Cellular components related to Pheochromocytoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:000574910.1SDHA, SDHC, SDHD, SDHB
2mitochondrionGO:00057399.9KIF1B, VHL, SDHA, SDHC, SDHD, SDHB
3mitochondrial inner membraneGO:00057439.8IDH2, SDHB, SDHD, SDHC, SDHA

Biological processes related to Pheochromocytoma according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.5SDHB, SDHA
2positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:0200124110.5RET, NF1
3enteric nervous system developmentGO:004848410.5RET, GDNF
4MAPK cascadeGO:000016510.4NF1, MEN1, RET
5aerobic respirationGO:000906010.4SDHC, SDHB
6respiratory electron transport chainGO:002290410.4SDHB, SDHD, SDHC, SDHA
7cellular response to hypoxiaGO:007145610.4VHL, STC1, EPAS1
8tricarboxylic acid cycleGO:000609910.4SDHA, SDHC, SDHD, SDHB, IDH2
9cellular metabolic processGO:004423710.4IDH2, SDHB, SDHD, SDHC, SDHA
10sympathetic nervous system developmentGO:004848510.3NF1, GDNF
11metanephros developmentGO:000165610.3NF1, GDNF
12negative regulation of cell proliferationGO:000828510.3TMEM127, ADM, SST, MEN1, VHL
13response to hypoxiaGO:000166610.3EPAS1, ADM, NF1
14regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141810.0VHL, EPAS1
15signal transductionGO:00071659.9GDNF, EPAS1, ADM, UTS2R, RET

Molecular functions related to Pheochromocytoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.3SDHA, SDHB
2succinate dehydrogenase activityGO:000010410.3SDHA, SDHC, SDHD
3ubiquinone bindingGO:004803910.2SDHB, SDHD
4hormone activityGO:000517910.2SST, STC1, ADM
5electron carrier activityGO:000905510.0SDHC, SDHD, SDHB

Products for genes affiliated with Pheochromocytoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pheochromocytoma

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet