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PCC
MCID: PHC003
MIFTS: 71

Pheochromocytoma (PCC)

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pheochromocytoma

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MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 56 12 74 52 73 29 13 54 6 42 43 15 39 71
Pheochromocytoma, Susceptibility to 56 6
Pheochromocytoma, Modifier of 56 6
Chromaffin Paraganglioma of the Adrenal Gland 52
Adrenal Gland Chromaffin Paraganglioma 52
Adrenal Gland Pheochromocytoma 52
Pheochromocytoma, Malignant 71
Adrenal Gland Chromaffinoma 52
Adrenal Gland Paraganglioma 52
Intraadrenal Paraganglioma 52
Chromaffin Cell Neoplasm 71
Medullary Chromaffinoma 73
Medullary Paraganglioma 73
Chromaffin Cell Tumor 73
Pheochromoblastoma 73
Phaeochromocytoma 12
Pheochromocytomas 15
Pcc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)


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Summaries for Pheochromocytoma

About this section
NIH Rare Diseases : 52 Pheochromocytomas are tumors of the adrenal glands . These glands are located right above the kidneys. Pheochromocytomas 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 anxiety. Rarely, this kind of tumor occurs outside the adrenal gland, usually somewhere in the abdomen. These are called extra-adrenal pheochromocytomas or paragangliomas. The cause of most pheochromocytomas is unknown. In some cases, there is a genetic cause. This type of tumor can occur in certain familial genetic syndromes , including multiple endocrine neoplasia, type 2 (MEN2), neurofibromatosis type 1 , Von Hippel-Lindau disease , hereditary paraganglioma-pheochromocytoma syndrome , Carney triad , and Carney-Stratakis dyad . There are also several genes that have been associated with pheochromocytoma when it does not occur as part of a syndrome.

MalaCards based summary : Pheochromocytoma, also known as pheochromocytoma, susceptibility to, is related to hereditary paraganglioma-pheochromocytoma syndromes and extra-adrenal pheochromocytoma, and has symptoms including fever, tremor and abdominal pain. An important gene associated with Pheochromocytoma is MAX (MYC Associated Factor X), and among its related pathways/superpathways are Neuroscience and Carbon metabolism. The drugs Angiotensin II and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, thyroid and testes, and related phenotypes are proteinuria and hyperhidrosis

Disease Ontology : 12 An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure.

OMIM : 56 Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002). Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2. Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200) and concluded that it fits. Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma. (171300)

MedlinePlus : 42 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 drugs or other substances that attack specific cancer cells with less harm to normal cells. NIH: National Cancer Institute

UniProtKB/Swiss-Prot : 73 Pheochromocytoma: A catecholamine-producing 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.

Wikipedia : 74 Pheochromocytomas (PH or PCC) are rare tumors arising from chromaffin cells of the adrenal medulla. They... more...

Sources

Related Diseases for Pheochromocytoma

About this section

Diseases in the Pheochromocytoma family:

Malignant Pheochromocytoma

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

(show top 50) (show all 871)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 35.9 VHL TMEM127 SDHD SDHC SDHB SDHAF2
2 extra-adrenal pheochromocytoma 35.5 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
3 pheochromocytoma-paraganglioma 35.1 VHL TMEM127 SDHD SDHC SDHB SDHA
4 malignant pheochromocytoma 35.0 TH SDHB MAX CHGA CALCA
5 multiple endocrine neoplasia, type iia 35.0 VHL TMEM127 SDHD SDHC SDHB SDHAF2
6 von hippel-lindau syndrome 34.7 VHL TMEM127 TH SDHD SDHC SDHB
7 sporadic pheochromocytoma/secreting paraganglioma 34.6 VHL SDHD SDHB RET
8 paragangliomas 1 34.5 SDHD SDHC SDHB RET CHGA
9 paraganglioma 34.3 VHL TMEM127 TH SDHD SDHC SDHB
10 multiple endocrine neoplasia, type iib 34.3 TMEM127 SDHD SDHB SDHAF2 RET NF1
11 multiple endocrine neoplasia 33.9 VHL SDHC SDHB RET GDNF CALCA
12 adrenal carcinoma 33.9 SDHD SDHB CHGA
13 neurofibromatosis 32.7 VHL SDHD SDHB RET NF1
14 thyroid carcinoma, familial medullary 32.4 VHL RET GDNF CHGB CHGA CALCA
15 thyroid gland medullary carcinoma 32.4 RET GDNF CHGA CALCA
16 neuroendocrine tumor 32.3 VHL SDHD SDHB RET NF1 CHGB
17 neurofibromatosis, type i 32.1 VHL SDHD SDHC SDHB RET NF1
18 ganglioneuroma 32.1 TH RET CHGA
19 hyperparathyroidism 31.9 RET CHGA CALCA
20 neural crest tumor 31.8 SDHD SDHC SDHB SDHAF2 SDHA
21 primary hyperparathyroidism 31.7 RET CHGA CALCA
22 multiple endocrine neoplasia, type i 31.7 VHL SDHD SDHC SDHB RET NF1
23 gastrointestinal stromal tumor 31.6 SDHD SDHC SDHB SDHA NF1 CHGA
24 parathyroid adenoma 31.6 RET CHGB CHGA CALCA
25 neuroma 31.6 RET NGF NF1 GDNF CALCA
26 constipation 31.5 TH RET GDNF CHGA CALCA
27 neuroblastoma 31.5 TH SDHB RET NGF NF1 MEG3
28 islet cell tumor 31.5 RET CHGA CALCA
29 paraganglioma and gastric stromal sarcoma 31.3 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
30 carney triad 31.3 SDHD SDHC SDHB SDHA
31 multiple mucosal neuroma 31.2 SDHAF2 RET GDNF CALCA
32 carcinoid syndrome 31.2 SDHD CHGA CALCA
33 cowden syndrome 31.2 SDHD SDHC SDHB RET NF1
34 somatostatinoma 31.1 NF1 CHGA CALCA
35 pituitary adenoma, prolactin-secreting 31.1 NGF CHGB CHGA
36 central hypoventilation syndrome, congenital 31.1 TH RET GDNF
37 renal cell carcinoma, papillary, 1 31.0 VHL SDHD SDHB RET
38 papillary carcinoma 31.0 RET CHGA CALCA
39 chondroma 30.9 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
40 diabetic neuropathy 30.9 NGF GDNF CALCA
41 mitochondrial complex ii deficiency 30.8 SDHD SDHC SDHB SDHAF2 SDHA
42 leigh syndrome 30.8 TH SDHD SDHC SDHB SDHAF2 SDHA
43 lung oat cell carcinoma 30.8 CHGA CALCA
44 gastric leiomyosarcoma 30.8 SDHD SDHC SDHB SDHA
45 carcinoid tumors, intestinal 30.8 CHGB CHGA
46 foster-kennedy syndrome 30.8 SDHD SDHAF2 SDHA
47 pituitary adenoma 30.7 MEG3 H19 CHGB CHGA
48 glucagonoma 30.6 CHGB CHGA
49 hirschsprung disease 1 30.6 RET MEG3 GDNF CALCA
50 pancreatic cholera 30.6 CHGA CALCA

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma
Sources

Symptoms & Phenotypes for Pheochromocytoma

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Human phenotypes related to Pheochromocytoma:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 hyperhidrosis 31 HP:0000975
3 congestive heart failure 31 HP:0001635
4 neoplasm 31 HP:0002664
5 hypercalcemia 31 HP:0003072
6 hemangioma 31 HP:0001028
7 pheochromocytoma 31 HP:0002666
8 cerebral hemorrhage 31 HP:0001342
9 tachycardia 31 HP:0001649
10 cafe-au-lait spot 31 HP:0000957
11 developmental cataract 31 HP:0000519
12 renal artery stenosis 31 HP:0001920
13 hypertensive retinopathy 31 HP:0001095
14 elevated urinary norepinephrine 31 HP:0003345
15 positive regitine blocking test 31 HP:0003574
16 episodic hypertension 31 HP:0000875

Symptoms via clinical synopsis from OMIM:

56
Lab:
proteinuria
hypercalcemia
elevated urinary norepinephrine
positive regitine test

Neuro:
cerebral hemorrhage

Eyes:
hypertensive retinopathy
congenital cataracts
retinal angiomatosis

Skin:
cafe-au-lait spots
sweating
hemangiomata

Misc:
familial pheochromocytoma usually bilateral
frequent loss of heterozygosity on 1p

Cardiac:
congestive heart failure
tachycardia

Vascular:
renal artery stenosis

Endocrine:
episodic hypertension

Oncology:
adrenal medullary tumor

Clinical features from OMIM:

171300

UMLS symptoms related to Pheochromocytoma:


fever, tremor, abdominal pain, chest pain, headache

GenomeRNAi Phenotypes related to Pheochromocytoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.66 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.66 MAX
4 Decreased viability GR00221-A-4 9.66 NF1 RET SDHD
5 Decreased viability GR00249-S 9.66 NF1 SDHD VHL
6 Decreased viability GR00301-A 9.66 RET VHL
7 Decreased viability GR00381-A-1 9.66 SDHD
8 Decreased viability GR00386-A-1 9.66 MAX NF1
9 Decreased viability GR00402-S-2 9.66 RET
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Pheochromocytoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 CHGA GDNF KIF1B MAX NF1 NGF
2 homeostasis/metabolism MP:0005376 10.21 ADM CHGA CHGB KIF1B NF1 NGF
3 mortality/aging MP:0010768 10.2 ADM CHGA GDNF KIF1B MAX NF1
4 cardiovascular system MP:0005385 10.16 ADM CHGA GDNF KIF1B NF1 NGF
5 endocrine/exocrine gland MP:0005379 10.13 ADM CHGA CHGB GDNF NF1 RET
6 muscle MP:0005369 9.91 ADM CHGA GDNF KIF1B NF1 NGF
7 neoplasm MP:0002006 9.7 NF1 RET SDHB SDHC SDHD TH
8 no phenotypic analysis MP:0003012 9.5 CHGA CHGB NGF RET SDHB TH
9 renal/urinary system MP:0005367 9.17 ADM CHGA GDNF NF1 RET SDHB
Sources

Drugs & Therapeutics for Pheochromocytoma

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Drugs for Pheochromocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 211)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
2
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
3
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
4
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
5
Nebivolol Approved, Investigational Phase 4 99200-09-6, 118457-14-0, 152520-56-4 71301
6
Doxazosin Approved Phase 4 74191-85-8 3157
7
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
8
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
9 Adrenergic beta-Agonists Phase 4
10 Adrenergic Agents Phase 4
11 Adrenergic Agonists Phase 4
12 Neurotransmitter Agents Phase 4
13 Antihypertensive Agents Phase 4
14 Vasodilator Agents Phase 4
15 Angiotensinogen Phase 4
16 Angiotensin Receptor Antagonists Phase 4
17 Giapreza Phase 4
18 Dopamine agonists Phase 4
19 Antiparkinson Agents Phase 4
20 Angiotensin II Type 1 Receptor Blockers Phase 4
21 Antidepressive Agents Phase 4
22 Psychotropic Drugs Phase 4
23 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
24 Duloxetine Hydrochloride Phase 4
25 Serotonin Uptake Inhibitors Phase 4
26
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
27
Tyramine Investigational, Nutraceutical Phase 4 51-67-2 5610
28
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
29
Lenograstim Approved, Investigational Phase 3 135968-09-1
30
Ifosfamide Approved Phase 3 3778-73-2 3690
31
Dexmedetomidine Approved, Vet_approved Phase 3 113775-47-6 5311068 68602
32
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083
33 Calamus Phase 3
34 Anti-Bacterial Agents Phase 3
35 Antibiotics, Antitubercular Phase 3
36
Liposomal doxorubicin Phase 3 31703
37
Isophosphamide mustard Phase 3 0
38 Pharmaceutical Solutions Phase 3
39 Analgesics, Non-Narcotic Phase 3
40 Anesthetics, General Phase 3
41 Hypnotics and Sedatives Phase 3
42 Anti-Arrhythmia Agents Phase 3
43 Anticonvulsants Phase 3
44
Indinavir Approved Phase 2 150378-17-9 5362440
45
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
46
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
47
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
48
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
49
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
50
Carbidopa Approved Phase 2 28860-95-9 34359

Interventional clinical trials:

(show top 50) (show all 127)
# Name Status NCT ID Phase Drugs
1 The Therapeutic Effect of Bromocriptin in Patients With Primary Aldosteronism Unknown status NCT00451672 Phase 4 bromocriptine
2 Comparative Study of the Effects of Telmisartan and Nebivolol on 24-h Ambulatory Blood Pressure and Arterial Stiffness in Patients With Arterial Hypertension Unknown status NCT02057328 Phase 4 TELMISARTAN;NEBIVOLOL
3 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
4 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
5 Effectiveness of the Norepinephrine and Serotonin Reuptake Inhibitor Levomilnacipran in Healthy Males Recruiting NCT03249311 Phase 4 Levomilnacipran;Duloxetine;Placebos
6 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
7 An Open-Label, Multicentre, Phase 3 Scintigraphy Study Assessing 123I-mIBG Uptake in Subjects Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
8 High Dose Indium-111 Pentetreotide Therapy in Somatostatin Receptor Expressing Neuroendocrine Neoplasms. Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
9 METASTASECTOMY AND CHEMOTHERAPY FOR LUNG METASTASES FROM SOFT TISSUE SARCOMA: A RANDOMIZED PHASE III STUDY (AN INTERGROUP STUDY WITH THE SCANDINAVIAN SARCOMA GROUP) Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
10 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
11 Randomized Controlled Trial of Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
12 Magnesium Sulfate Versus Dexmedetomidine on Anesthesia Awakening. Randomized Clinical Trial. Not yet recruiting NCT04300985 Phase 3 Dexmedetomidine;Sham treatment;Magnesium Sulfate
13 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
14 Radiation Therapy in Combination With Indinavir / Ritonavir (Crixivan / Norvir) for the Treatment of Brain Metastases: a Randomized Phase II Study Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
15 (131)I-Metaiodobenzylguanidine Treatment of Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
16 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
17 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
18 A Phase II Study of 131I-labeled Metaiodobenzylguanidine (MIBG) for Treatment of Patients With Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
19 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
20 A Phase I Study Evaluating the Maximum Tolerated Dose, Dosimetry, Safety, and Efficacy of Ultratrace Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
21 A Broad Multi-Histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-Small Cell Lung, Head and Neck, Hepatocellular and Renal Cell Carcinomas and Pheochromocytoma and Thyroid Tumors Completed NCT00923481 Phase 2 Fostamatinib disodium
22 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
23 A Phase II Study Of Hepatic Arterial Infusion Of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) For Unresectable Primary And Metastatic Cancers Of The Liver Completed NCT00096083 Phase 2 isolated perfusion;melphalan
24 A Phase II Study to Evaluate the Safety and Efficacy of RAD001 Plus Erlotinib in Patients With Well- to Moderately-Differentiated Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
25 Phase II Study of Capecitabine and Temozolomide for Progressive, Differentiated, Metastatic Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
26 Effect of COMT (Catecholamine-O-methyltransferase) Genetic Polymorphisms on Response to Propranolol Therapy in Temporomandibular Disorder Completed NCT02437383 Phase 2 Propranolol ER;Placebo
27 A Phase 2 Study of ZD6474 (Vandetanib) in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
28 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
29 A Phase II Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib S-malate
30 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
31 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;F-18-FDG;Amino Acid solution
32 Clinical Study of the Use of Yttrium-90 (90Y) and/or Lutecium-177 (177Lu) DOTATATE (DOTA-0-Tyr3-Octreotate) in the Treatment of Disseminated and / or Symptomatic Tumors With Somatostatin Receptor Overexpression Recruiting NCT04029428 Phase 2 90Y-DOTATATE;(177Lu-DOTAOTyr3)Octreotate;90Y DOTATATE and 177Lu DOTATATE (mix each of 50%)
33 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
34 Open Access Protocol of Targeted Radiotherapy With I-metaiodobenzylguanidine (I-MIBG) in Patients With Resistant Neuroblastoma or Malignant Chromaffin Cell Tumors Recruiting NCT00107289 Phase 2
35 The Perioperative Use of Dexmedetomidine and Magnesium Sulfate Compared With Traditional Anesthetic Technique for Open Resection of Pheochromocytoma. Recruiting NCT04320589 Phase 2 Dexmedetomidine;General anesthetic
36 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
37 A Phase II Study of <131>I-Metaiodobenzyguanidine (<131>I-MIBG) Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2 MIBG
38 Lidocaine Infusion in Functional Endoscopic Sinus Surgery Recruiting NCT03047070 Phase 2 Lidocaine;Normal saline
39 Evaluation of the Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors Recruiting NCT04074135 Phase 2 68-Gallium DOTATATE
40 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
41 Phase II Trial of LBlOO, a Protein Phosphatase 2A Inhibitor, in Recurrent Gliomas Recruiting NCT03027388 Phase 2 LB-100
42 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Active, not recruiting NCT03008369 Phase 2 Lenvatinib
43 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
44 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2 Axitinib (AG-013736)
45 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
46 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Not yet recruiting NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
47 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Not yet recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
48 A Phase 1/2 Trial of a Novel Therapeutic Vaccine (EO2401) in Combination With Immune Check Point Blockade, for Treatment of Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma, or Malignant Pheochromocytoma/Paraganglioma Not yet recruiting NCT04187404 Phase 1, Phase 2
49 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
50 A Phase II, Non-Randomized, Open-Label, Single-center, Physician Sponsored, Study to Determine the Safety and Effectiveness of 177LuDOTATOC in Adult Subjects With STTR(+) Pulmonary, Pheochromocytoma, Paraganglioma, Unknown Primary, Thymus Neuroendocrine Tumors (PUTNET) Not yet recruiting NCT04276597 Phase 2 177Lu-DOTATOC

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Metyrosine
Phenoxybenzamine
Phenoxybenzamine Hydrochloride
Propranolol
Propranolol Hydrochloride

Cochrane evidence based reviews: pheochromocytoma

Sources

Genetic Tests for Pheochromocytoma

About this section

Genetic tests related to Pheochromocytoma:

# Genetic test Affiliating Genes
1 Pheochromocytoma 29 GDNF KIF1B MAX RET SDHB SDHD TMEM127 VHL
Sources

Anatomical Context for Pheochromocytoma

About this section

MalaCards organs/tissues related to Pheochromocytoma:

40
Adrenal Gland, Thyroid, Testes, Heart, Brain, Kidney, Pituitary
Sources

Publications for Pheochromocytoma

About this section

Articles related to Pheochromocytoma:

(show top 50) (show all 15737)
# Title Authors PMID Year
1
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 6 56 61 54
20154675 2010
2
Evidence of MEN-2 in the original description of classic pheochromocytoma. 61 6 56 54
17898100 2007
3
Germ-line mutations in nonsyndromic pheochromocytoma. 56 6 54 61
12000816 2002
4
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 56 6 54 61
11156372 2000
5
Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation. 61 56 6
25389632 2015
6
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 61 6 56
21685915 2011
7
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 56 6 61
18334619 2008
8
Novel pheochromocytoma susceptibility loci identified by integrative genomics. 56 6 61
16266984 2005
9
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 54 56 6
9215674 1997
10
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 6 54 56
8592333 1995
11
Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 56 6
9663592 1998
12
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 54 61 56
20503330 2010
13
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 6 54 61
16317055 2006
14
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 61 6 54
11404820 2001
15
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 61 6 54
10522989 1999
16
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 6 54 61
7563486 1995
17
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 6 61
24893135 2014
18
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. 56 61
23010473 2012
19
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. 61 56
22962301 2012
20
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 6 61
21348866 2012
21
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 6 54
18726616 2008
22
Hereditary Paraganglioma-Pheochromocytoma Syndromes 6 61
20301715 2008
23
Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma. 61 56
17940110 2008
24
An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges. 61 56
17102067 2006
25
Characteristic genomic imbalances in pediatric pheochromocytoma. 61 56
16518846 2006
26
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. 54 6
14685938 2004
27
A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. 61 56
12574179 2003
28
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. 61 6
12466368 2002
29
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 61 6
12414898 2002
30
The pressure rises: update on the genetics of phaeochromocytoma. 56 54
12351569 2002
31
Pheochromocytoma--death of an axiom. 61 56
12000821 2002
32
Case 13-2001: genetic testing in pheochromocytoma. 61 56
11519521 2001
33
A "pheo" lurks: novel approaches for locating occult pheochromocytoma. 56 61
11502790 2001
34
Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 61 56
10369850 1999
35
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 61 6
9506724 1998
36
Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. 61 56
9398721 1997
37
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 6 54
9156047 1997
38
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 61 6
8956040 1996
39
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 56 54
8825918 1995
40
Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. 61 56
8105382 1993
41
A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome. 61 56
6306309 1982
42
Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient. 61 56
490809 1979
43
Familial pheochromocytoma: a report of 2 cases in a kindred. 56 61
458955 1979
44
One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis. 56 61
922654 1977
45
Pheochromocytoma crisis induced by saralasin. Relation of angiotensin analogue to catecholamine release. 56 61
820996 1976
46
Mutation and cancer: neuroblastoma and pheochromocytoma. 56 61
4340974 1972
47
Hypercalcemia and familial pheochromocytoma. Correction after adrenalectomy. 56 61
5015920 1972
48
Further evaluation of the tyramine test for pheochromocytoma. 56 61
5638691 1968
49
[The pheochromocytoma as a dominant hereditary dysgenetic tumor]. 61 56
13886916 1962
50
[The pheochromocytoma of familial character]. 61 56
13716312 1961
Sources

Variations for Pheochromocytoma

About this section

ClinVar genetic disease variations for Pheochromocytoma:

6 (show top 50) (show all 1210) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM127 NM_017849.3(TMEM127):c.245-1G>TSNV Likely pathogenic,risk factor 109 rs121908821 2:96920736-96920736 2:96254998-96254998
2 TMEM127 NM_017849.3(TMEM127):c.149dup (p.Pro51fs)duplication Likely pathogenic,risk factor 110 rs121908817 2:96930970-96930971 2:96265232-96265233
3 VHL NM_000551.3(VHL):c.499C>T (p.Arg167Trp)SNV Pathogenic 2218 rs5030820 3:10191506-10191506 3:10149822-10149822
4 VHL NM_000551.3(VHL):c.277G>A (p.Gly93Ser)SNV Pathogenic 2237 rs5030808 3:10183808-10183808 3:10142124-10142124
5 KIF1B NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn)SNV Pathogenic,risk factor 4662 rs121908164 1:10425534-10425534 1:10365476-10365476
6 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)SNV Pathogenic 6893 rs80338843 11:111958640-111958640 11:112087916-112087916
7 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)SNV Pathogenic 6896 rs80338844 11:111959663-111959663 11:112088939-112088939
8 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)SNV Pathogenic 6897 rs80338845 11:111959695-111959695 11:112088971-112088971
9 SDHD NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)SNV Pathogenic 6900 rs104894304 11:111965555-111965555 11:112094831-112094831
10 SDHD NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)SNV Pathogenic 6901 rs104894305 11:111958623-111958623 11:112087899-112087899
11 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)SNV Pathogenic 6903 rs104894306 11:111958592-111958592 11:112087868-112087868
12 SDHD NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs)short repeat Pathogenic 6904 rs387906358 11:111959608-111959609 11:112088884-112088885
13 SDHD NM_003002.4(SDHD):c.3G>C (p.Met1Ile)SNV Pathogenic 6906 rs80338842 11:111957634-111957634 11:112086910-112086910
14 SDHD NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs)short repeat Pathogenic 6908 rs397514034 11:111958620-111958621 11:112087896-112087897
15 TMEM127 NM_017849.3(TMEM127):c.410-2A>CSNV Pathogenic 107 rs121908826 2:96919855-96919855 2:96254117-96254117
16 TMEM127 NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter)SNV Pathogenic 108 rs121908830 2:96919788-96919788 2:96254050-96254050
17 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val)SNV Pathogenic 6911 rs104894307 11:111957632-111957632 11:112086908-112086908
18 SDHD NM_003002.4(SDHD):c.337_340del (p.Asp113fs)deletion Pathogenic 6912 rs587776648 11:111965548-111965551 11:112094824-112094827
19 SDHD NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)SNV Pathogenic 6913 rs104894308 11:111958657-111958657 11:112087933-112087933
20 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)SNV Pathogenic 6915 rs104894309 11:111957664-111957664 11:112086940-112086940
21 SDHD NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)SNV Pathogenic 6916 rs104894310 11:111957645-111957645 11:112086921-112086921
22 SDHD NM_003002.4(SDHD):c.57del (p.Leu20fs)deletion Pathogenic 6917 rs587776649 11:111958585-111958585 11:112087861-112087861
23 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly)SNV Pathogenic 13905 rs76262710 10:43609096-43609096 10:43113648-43113648
24 RET NM_020975.6(RET):c.1900T>G (p.Cys634Gly)SNV Pathogenic 13908 rs75076352 10:43609948-43609948 10:43114500-43114500
25 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe)SNV Pathogenic 13911 rs75996173 10:43609949-43609949 10:43114501-43114501
26 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)SNV Pathogenic 13909 rs75996173 10:43609949-43609949 10:43114501-43114501
27 RET NM_020975.6(RET):c.1901G>C (p.Cys634Ser)SNV Pathogenic 13910 rs75996173 10:43609949-43609949 10:43114501-43114501
28 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg)SNV Pathogenic 13917 rs75076352 10:43609948-43609948 10:43114500-43114500
29 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp)SNV Pathogenic 13918 rs77709286 10:43609950-43609950 10:43114502-43114502
30 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
31 SDHB NM_003000.2(SDHB):c.725G>A (p.Arg242His)SNV Pathogenic 12781 rs74315368 1:17349143-17349143 1:17022648-17022648
32 SDHB NM_003000.3(SDHB):c.714_715CT[1] (p.Ser239fs)short repeat Pathogenic 12782 rs587781266 1:17349149-17349152 1:17022654-17022657
33 SDHB NM_003000.2(SDHB):c.79C>T (p.Arg27Ter)SNV Pathogenic 12783 rs74315369 1:17371377-17371377 1:17044882-17044882
34 SDHB NM_003000.2(SDHB):c.136C>G (p.Arg46Gly)SNV Pathogenic 12785 rs74315370 1:17371320-17371320 1:17044825-17044825
35 SDHB NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr)SNV Pathogenic 12786 rs74315371 1:17355216-17355216 1:17028721-17028721
36 SDHB NM_003000.2(SDHB):c.299C>T (p.Ser100Phe)SNV Pathogenic 12788 rs121917755 1:17355219-17355219 1:17028724-17028724
37 SDHB NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)SNV Pathogenic 12778 rs74315366 1:17359573-17359573 1:17033078-17033078
38 SDHB NC_000001.11:g.(?_17018881)_(17044898_?)deldeletion Pathogenic 831498 1:17345376-17371393
39 SDHB NC_000001.11:g.(?_17018881)_(17054019_?)deldeletion Pathogenic 832529 1:17345376-17380514
40 SDHB NC_000001.11:g.(?_17018871)_(17033155_?)deldeletion Pathogenic 830735 1:17345366-17359650
41 SDHB NC_000001.11:g.(?_17018871)_(17044898_?)deldeletion Pathogenic 833509 1:17345366-17371393
42 SDHB NC_000001.11:g.(?_17053938)_(17054019_?)deldeletion Pathogenic 831621 1:17380433-17380514
43 SDHD NC_000011.10:g.(?_112094795)_(112094970_?)deldeletion Pathogenic 832816 11:111965519-111965694
44 subset of 22 genes: SDHD NC_000011.9:g.(?_111171709)_(111965694_?)deldeletion Pathogenic 831566 11:111171709-111965694
45 SDHD NC_000011.10:g.(?_112086902)_(112094975_?)deldeletion Pathogenic 832458 11:111957626-111965699
46 SDHB insertion Pathogenic 870269
47 SDHD NM_003002.4(SDHD):c.3G>A (p.Met1Ile)SNV Pathogenic 579968 rs80338842 11:111957634-111957634 11:112086910-112086910
48 SDHD NC_000011.10:g.(?_112094795)_(112094980_?)deldeletion Pathogenic 584289 11:111965519-111965704 11:112094795-112094980
49 SDHD NC_000011.10:g.(?_112088857)_(112094980_?)deldeletion Pathogenic 583435 11:111959581-111965704 11:112088857-112094980
50 SDHD NC_000011.10:g.(?_112086898)_(112094980_?)deldeletion Pathogenic 584168 11:111957622-111965704 11:112086898-112094980

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

73 (show top 50) (show all 61)
# Symbol AA change Variation ID SNP ID
1 MAX p.Val9Leu VAR_079347 rs201743423
2 MAX p.Arg25Trp VAR_079349
3 MAX p.Arg35Cys VAR_079351
4 MAX p.Arg60Trp VAR_079353
5 MAX p.Ile71Ser VAR_079354
6 MAX p.Met74Val VAR_079355
7 MAX p.Arg90Pro VAR_079358
8 MAX p.Leu94Pro VAR_079359
9 MAX p.Leu102Pro VAR_079360
10 RET p.Cys634Gly VAR_006323 rs75076352
11 RET p.Cys634Phe VAR_006324 rs75996173
12 RET p.Cys634Tyr VAR_006325 rs75996173
13 RET p.Cys634Arg VAR_006326 rs75076352
14 RET p.Cys634Ser VAR_006327 rs75076352
15 RET p.Cys634Trp VAR_006328 rs77709286
16 RET p.Tyr791Phe VAR_009483 rs77724903
17 SDHB p.Arg242His VAR_017869 rs74315368
18 SDHB p.Leu87Ser VAR_018517 rs727504457
19 SDHB p.Arg46Gly VAR_035064 rs74315370
20 SDHB p.Cys101Tyr VAR_035065 rs74315371
21 SDHB p.Cys192Arg VAR_035066 rs786202732
22 SDHB p.Cys196Tyr VAR_035067 rs876658367
23 SDHB p.Ser100Phe VAR_037620 rs121917755
24 SDHB p.Ala43Pro VAR_054376
25 SDHB p.Arg46Gln VAR_054377 rs772551056
26 SDHB p.Gly53Arg VAR_054378
27 SDHB p.Leu65His VAR_054379 rs876659329
28 SDHB p.Leu65Pro VAR_054380 rs876659329
29 SDHB p.Ile127Asn VAR_054381
30 SDHB p.Arg230Cys VAR_054383 rs138996609
31 SDHD p.Pro81Leu VAR_010038 rs80338844
32 SDHD p.Asp92Tyr VAR_010039 rs80338845
33 TMEM127 p.Val90Met VAR_063595 rs121908823
34 TMEM127 p.Trp53Ser VAR_072273 rs121908818
35 TMEM127 p.Asp70Asn VAR_072274 rs121908819
36 TMEM127 p.Gly73Arg VAR_072275 rs121908820
37 TMEM127 p.Arg94Trp VAR_072276 rs121908824
38 TMEM127 p.Cys140Arg VAR_072277 rs121908827
39 TMEM127 p.Cys140Tyr VAR_072278 rs121908828
40 VHL p.Ser68Trp VAR_005675
41 VHL p.Ser80Asn VAR_005688 rs5030805
42 VHL p.Gly93Cys VAR_005703 rs5030808
43 VHL p.Gly93Ser VAR_005705 rs5030808
44 VHL p.Tyr98His VAR_005707 rs5030809
45 VHL p.Phe119Leu VAR_005728 rs155361994
46 VHL p.Phe136Cys VAR_005737 rs5030833
47 VHL p.Tyr156Cys VAR_005743 rs397516441
48 VHL p.Arg161Gln VAR_005751 rs730882035
49 VHL p.Arg161Pro VAR_005752
50 VHL p.Arg167Gln VAR_005761 rs5030821

Cosmic variations for Pheochromocytoma:

9 (show top 50) (show all 145)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 28
2 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 28
3 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 28
4 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 28
5 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 28
6 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 28
7 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 28
8 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 28
9 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 28
10 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 28
11 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 28
12 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 28
13 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 28
14 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 28
15 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 28
16 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 28
17 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 28
18 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 28
19 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 28
20 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 28
21 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 28
22 COSM93680586 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 28
23 COSM93687360 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 28
24 COSM93653832 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 28
25 COSM88844097 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 28
26 COSM88849124 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 28
27 COSM88850455 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 28
28 COSM112988851 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 28
29 COSM112988925 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 28
30 COSM112988832 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 11:534286-534286 28
31 COSM95516578 H3-3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 28
32 COSM107493928 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1731C>A p.N577K 8:38417331-38417331 28
33 COSM86761750 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 28
34 COSM86761419 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 28
35 COSM86757527 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 28
36 COSM86759134 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 28
37 COSM93530486 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 28
38 COSM91331163 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 28
39 COSM120509060 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 28
40 COSM92696795 adrenal gland,adrenal gland,pheochromocytoma,benign c.*688C>A p.? 8:38417331-38417331 28
41 COSM93535461 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 28
42 COSM101951610 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 28
43 COSM109968573 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 28
44 COSM109960979 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 28
45 COSM93512112 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 28
46 COSM90654925 adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 28
47 COSM105721394 adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 28
48 COSM93508888 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 28
49 COSM90652830 adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 28
50 COSM111018308 adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 28

Copy number variations for Pheochromocytoma from CNVD:

7 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13345 1 1 125000000 Copy number Pheochromocytoma
2 15475 1 115900000 117600000 Deletion SDHB Pheochromocytoma
3 16420 1 124300000 128000000 In SDHC Pheochromocytoma
4 21561 1 159550789 159601159 Genomic rearrangement SDHC Pheochromocytoma
5 23647 1 17217811 17253252 Genomic rearrangement SDHB Pheochromocytoma
6 48332 3 10158318 10168746 Deletion VHL Pheochromocytoma
7 49867 11 111462831 111471727 Genomic rearrangement SDHD Pheochromocytoma
8 76422 13 31100000 77800000 Gain Pheochromocytoma
9 106795 17 1 22200000 In NF1 Pheochromocytoma
10 107003 17 11200000 15900000 Deletion Pheochromocytoma
11 107513 17 15900000 22100000 Deletion Pheochromocytoma
12 112077 17 37844392 37884914 Gain Pheochromocytoma
13 166348 3 10158318 10168746 Genomic rearrangement VHL Pheochromocytoma
Sources

Expression for Pheochromocytoma

About this section
Search GEO for disease gene expression data for Pheochromocytoma.
Sources

Pathways for Pheochromocytoma

About this section

Pathways related to Pheochromocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.09 TH RET NGF NF1 CALCA
2
Carbon metabolism 36
Show member pathways
 11.88 SDHD SDHC SDHB SDHA
3
Neural Stem Cells and Lineage-specific Markers 64
11.4 TH NGF GDNF
4
Pyruvate metabolism and Citric Acid (TCA) cycle 65
Show member pathways
 11.37 SDHD SDHC SDHB SDHA
5
Citrate cycle (TCA cycle) 36
Show member pathways
 10.94 SDHD SDHC SDHB SDHA
Sources

GO Terms for Pheochromocytoma

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.92 VHL TH SDHD SDHC SDHB SDHAF2
2 dendrite GO:0030425 9.73 TH RET NGF NF1 MAX KIF1B
3 axon GO:0030424 9.43 TH RET NGF NF1 KIF1B CALCA
4 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.77 VHL TMEM127 NGF NF1 ADM
2 electron transport chain GO:0022900 9.61 SDHC SDHB SDHA
3 sympathetic nervous system development GO:0048485 9.49 NF1 GDNF
4 enteric nervous system development GO:0048484 9.48 RET GDNF
5 G protein-coupled receptor internalization GO:0002031 9.46 CALCA ADM
6 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.4 RET NF1
7 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
8 peripheral nervous system development GO:0007422 9.33 NGF NF1 GDNF
9 amylin receptor signaling pathway GO:0097647 9.32 CALCA ADM
10 succinate metabolic process GO:0006105 9.26 SDHB SDHA
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHD SDHC SDHAF2 SDHA

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 CHGB CALCA ADM
2 ubiquinone binding GO:0048039 9.26 SDHD SDHB
3 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
5 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA
Sources

Sources for Pheochromocytoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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