PCC
MCID: PHC003
MIFTS: 71

Pheochromocytoma (PCC)

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 57 12 75 53 74 29 13 55 6 43 44 15 40 72
Pheochromocytoma, Susceptibility to 57 6
Pheochromocytoma, Modifier of 57 6
Chromaffin Paraganglioma of the Adrenal Gland 53
Adrenal Gland Chromaffin Paraganglioma 53
Adrenal Gland Pheochromocytoma 53
Pheochromocytoma, Malignant 72
Adrenal Gland Chromaffinoma 53
Adrenal Gland Paraganglioma 53
Intraadrenal Paraganglioma 53
Chromaffin Cell Neoplasm 72
Medullary Chromaffinoma 74
Medullary Paraganglioma 74
Chromaffin Cell Tumor 74
Pheochromoblastoma 74
Phaeochromocytoma 12
Pheochromocytomas 15
Pcc 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050771
OMIM 57 171300
MeSH 44 D010673
UMLS 72 C0031511 C0334419 C1302282

Summaries for Pheochromocytoma

NIH Rare Diseases : 53 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 tremor, fever 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 Bromocriptine and Nebivolol have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, thyroid and testes, and related phenotypes are hyperhidrosis and proteinuria

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 : 57 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 : 43 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

UniProtKB/Swiss-Prot : 74 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 : 75 Pheochromocytomas (PH or PCC) are tumors arising from chromaffin cells of the adrenal gland. They make,... more...

Related Diseases for Pheochromocytoma

Diseases in the Pheochromocytoma family:

Malignant Pheochromocytoma Sporadic Pheochromocytoma

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

(show top 50) (show all 856)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 35.5 VHL TMEM127 SDHD SDHC SDHB SDHAF2
2 extra-adrenal pheochromocytoma 35.3 SDHD SDHC SDHB SDHAF2 PNMT
3 malignant pheochromocytoma 35.0 SDHB PNMT CHGA CALCA
4 sporadic pheochromocytoma 34.8 VHL SDHD SDHC SDHB RET NF1
5 multiple endocrine neoplasia, type iia 34.7 SDHD SDHB RET NF1 GDNF CALCA
6 paragangliomas 1 34.5 SDHD SDHC SDHB RET CHGA
7 von hippel-lindau syndrome 34.3 VHL SDHD SDHC SDHB RET PNMT
8 multiple endocrine neoplasia, type iib 34.2 RET GDNF CALCA
9 paraganglioma 33.7 VHL TMEM127 SDHD SDHC SDHB SDHAF2
10 multiple endocrine neoplasia 33.6 VHL SDHC SDHB RET PNMT NF1
11 neuroendocrine tumor 33.6 CHGB CHGA CALCA
12 neurofibromatosis, type iv, of riccardi 32.6 VHL SDHD SDHC SDHB RET NF1
13 thyroid carcinoma, familial medullary 32.3 RET GDNF CHGB CHGA CALCA
14 hyperparathyroidism 32.1 RET CHGA CALCA
15 primary hyperparathyroidism 31.9 RET CHGA CALCA
16 neural crest tumor 31.8 SDHD SDHC SDHB SDHAF2 SDHA
17 parathyroid adenoma 31.7 RET CHGA CALCA
18 hemangioma 31.7 VHL RET CHGA
19 multiple endocrine neoplasia, type i 31.7 SDHD SDHB RET CHGA
20 gastrointestinal stromal tumor 31.6 SDHD SDHC SDHB SDHA NF1 CHGA
21 neuroma 31.6 RET NGF GDNF CALCA
22 constipation 31.5 RET GDNF CALCA
23 endocrine gland cancer 31.4 RET CHGA CALCA
24 carney triad 31.4 SDHD SDHC SDHB SDHA
25 paraganglioma and gastric stromal sarcoma 31.3 SDHD SDHC SDHB
26 carcinoid tumors, intestinal 31.1 SDHD CHGB CHGA
27 lung oat cell carcinoma 31.0 CHGA CALCA
28 chondroma 31.0 SDHD SDHC SDHB
29 plethora of newborn 30.9 SDHD SDHC SDHB CALCA
30 mitochondrial complex ii deficiency 30.9 SDHD SDHC SDHB SDHAF2 SDHA
31 glucagonoma 30.6 CHGB CHGA
32 adrenocortical carcinoma, hereditary 30.5 H19 CHGA ADM
33 kidney cancer 29.7 VHL MEG3 H19
34 adrenal gland pheochromocytoma 12.7
35 malignant pediatric adrenal gland pheochromocytoma 12.4
36 pheochromocytoma--islet cell tumor syndrome 12.4
37 pheochromocytoma, childhood 12.3
38 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.3
39 sporadic pheochromocytoma/secreting paraganglioma 12.1
40 paragangliomas 4 12.0
41 nonsyndromic paraganglioma 11.9
42 propionic acidemia 11.8
43 adrenal carcinoma 11.8
44 acromegaly 11.5
45 paragangliomas 3 11.5
46 paragangliomas 2 11.5
47 cataract 4, multiple types 11.4
48 microcephaly 1, primary, autosomal recessive 11.4
49 cataract congenital dominant non nuclear 11.2
50 appendix adenocarcinoma 11.1

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Human phenotypes related to Pheochromocytoma:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 proteinuria 32 HP:0000093
3 neoplasm 32 HP:0002664
4 congestive heart failure 32 HP:0001635
5 pheochromocytoma 32 HP:0002666
6 hypercalcemia 32 HP:0003072
7 hemangioma 32 HP:0001028
8 cerebral hemorrhage 32 HP:0001342
9 tachycardia 32 HP:0001649
10 cafe-au-lait spot 32 HP:0000957
11 renal artery stenosis 32 HP:0001920
12 hypertensive retinopathy 32 HP:0001095
13 elevated urinary norepinephrine 32 HP:0003345
14 positive regitine blocking test 32 HP:0003574
15 developmental cataract 32 HP:0000519
16 episodic hypertension 32 HP:0000875

Symptoms via clinical synopsis from OMIM:

57
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:


tremor, fever, 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 GR00231-A 9.66 RET
6 Decreased viability GR00301-A 9.66 RET VHL
7 Decreased viability GR00381-A-1 9.66 SDHD
8 Decreased viability GR00402-S-2 9.66 MAX NF1 RET SDHD VHL
9 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Pheochromocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 ADM CHGA GDNF KIF1B NF1 NGF
2 homeostasis/metabolism MP:0005376 10.1 ADM CHGA CHGB KIF1B NF1 NGF
3 endocrine/exocrine gland MP:0005379 10.02 ADM CHGA CHGB GDNF NF1 RET
4 hematopoietic system MP:0005397 9.97 ADM GDNF NF1 RET SDHB SDHC
5 mortality/aging MP:0010768 9.97 ADM CHGA GDNF KIF1B MAX NF1
6 muscle MP:0005369 9.56 ADM CHGA GDNF KIF1B NF1 NGF
7 renal/urinary system MP:0005367 9.17 ADM CHGA GDNF NF1 RET SDHB

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 206)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
2
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
3
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
4
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
5
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
6
Doxazosin Approved Phase 4 74191-85-8 3157
7
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
8
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
9 Neurotransmitter Agents Phase 4
10 Adrenergic Agents Phase 4
11 Antihypertensive Agents Phase 4
12 Vasodilator Agents Phase 4
13 Adrenergic Agonists Phase 4
14 Adrenergic beta-Agonists Phase 4
15 Antiparkinson Agents Phase 4
16 Dopamine agonists Phase 4
17 diuretics Phase 4
18 Sodium Chloride Symporter Inhibitors Phase 4
19 Natriuretic Agents Phase 4
20 Giapreza Phase 4
21 Angiotensin Receptor Antagonists Phase 4
22 Angiotensin II Type 1 Receptor Blockers Phase 4
23 Angiotensinogen Phase 4
24 Vasoconstrictor Agents Phase 4
25 Serotonin Uptake Inhibitors Phase 4
26 Antidepressive Agents Phase 4
27 Serotonin Receptor Agonists Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Neurotransmitter Uptake Inhibitors Phase 4
30 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
31 Serotonin Agents Phase 4
32 Psychotropic Drugs Phase 4
33 Duloxetine Hydrochloride Phase 4
34
Tyramine Investigational, Nutraceutical Phase 4 51-67-2 5610
35
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
36
Somatostatin Approved, Investigational Phase 2, Phase 3 38916-34-6, 51110-01-1 53481605
37
Ifosfamide Approved Phase 3 3778-73-2 3690
38
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
39
Lenograstim Approved, Investigational Phase 3 135968-09-1
40
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
41 Calamus Phase 3
42 Anti-Bacterial Agents Phase 3
43 Antibiotics, Antitubercular Phase 3
44
Liposomal doxorubicin Phase 3 31703
45 Topoisomerase Inhibitors Phase 3
46
Isophosphamide mustard Phase 3 0
47
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
48
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
49
Indinavir Approved Phase 2 150378-17-9 5362440
50
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353

Interventional clinical trials:

(show top 50) (show all 112)
# 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 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
13 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
14 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
15 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
16 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
17 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
18 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
19 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
20 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
21 Phase II Study of Capecitabine and Temozolomide for Progressive, Differentiated, Metastatic Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
22 Effect of COMT (Catecholamine-O-methyltransferase) Genetic Polymorphisms on Response to Propranolol Therapy in Temporomandibular Disorder Completed NCT02437383 Phase 2 Propranolol ER;Placebo
23 A Phase 2 Study of ZD6474 (Vandetanib) in Patients With Von Hippel Lindau Disease and Renal Tumors Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
24 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
25 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
26 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
27 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
28 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%)
29 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 Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
30 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
31 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
32 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
33 Lidocaine Infusion in Functional Endoscopic Sinus Surgery Recruiting NCT03047070 Phase 2 Lidocaine;Normal saline
34 A Phase II Study of <131>I-Metaiodobenzyguanidine (<131>I-MIBG) Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2 MIBG
35 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
36 Phase II Trial of LBlOO, a Protein Phosphatase 2A Inhibitor, in Recurrent Glioblastoma Recruiting NCT03027388 Phase 2 LB-100
37 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Active, not recruiting NCT03008369 Phase 2 Lenvatinib
38 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
39 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)
40 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Active, not recruiting NCT01635907 Phase 2 Dovitinib
41 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
42 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
43 Phase I/II Trial of Peptide Receptor Radiotherapy (PRRT) With 177Lu-DOTA-tyr3 OCTREOTATE (177Lu-DOTATATE) in Children With Neuroendocrine Tumor, Neuroblastoma, or Pheochromocytoma/Paraganglioma Not yet recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
44 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
45 Clinical Trial of Sir-Spheres® in Patients With Symptomatic or Progressive Hepatic Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
46 Treatment Targets for Chronic Hypertension in Pregnancy Withdrawn NCT00194974 Phase 1, Phase 2 methyldopa;labetalol;nifedipine;clonidine
47 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
48 A Phase I, Open Label, Maximum Tolerated Dose-Finding Study to Evaluate the Safety and Tolerability of 90Y-DOTA-tyr3-Octreotide Administered by Intravenous Infusion to Children With Refractory Somatostatin-Receptor Positive Tumors Completed NCT00049023 Phase 1
49 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
50 A Phase I Trial of the mTOR Inhibitor RAD001 in Combination With VEGF Receptor Tyrosine Kinase Inhibitor PTK787/ZK 222584 in Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Clonidine
Cyclophosphamide
Dacarbazine
Iobenguane sulfate I-123
Labetalol
Metyrosine
Metyrosine
Phenoxybenzamine
Phenoxybenzamine
Phenoxybenzamine Hydrochloride
Phentolamine
Propranolol
Propranolol
Propranolol Hydrochloride
Vincristine

Cochrane evidence based reviews: pheochromocytoma

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

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

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

41
Adrenal Gland, Thyroid, Testes, Heart, Brain, Kidney, Pituitary

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 15331)
# Title Authors PMID Year
1
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 9 38 8 71
20154675 2010
2
Evidence of MEN-2 in the original description of classic pheochromocytoma. 9 38 8 71
17898100 2007
3
Germ-line mutations in nonsyndromic pheochromocytoma. 9 38 8 71
12000816 2002
4
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 9 38 8 71
11156372 2000
5
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 38 8 71
21685915 2011
6
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 38 8 71
18334619 2008
7
Novel pheochromocytoma susceptibility loci identified by integrative genomics. 38 8 71
16266984 2005
8
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 9 8 71
9215674 1997
9
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 9 8 71
8592333 1995
10
Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 8 71
9663592 1998
11
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 9 38 8
20503330 2010
12
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 9 38 71
16317055 2006
13
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 9 38 71
11404820 2001
14
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 9 38 71
10522989 1999
15
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 9 38 71
7563486 1995
16
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 38 71
24893135 2014
17
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. 38 8
23010473 2012
18
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. 38 8
22962301 2012
19
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 38 71
21348866 2012
20
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 9 71
18726616 2008
21
Hereditary Paraganglioma-Pheochromocytoma Syndromes 38 71
20301715 2008
22
Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma. 38 8
17940110 2008
23
An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges. 38 8
17102067 2006
24
Characteristic genomic imbalances in pediatric pheochromocytoma. 38 8
16518846 2006
25
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. 9 71
14685938 2004
26
A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. 38 8
12574179 2003
27
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. 38 71
12466368 2002
28
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 38 71
12414898 2002
29
The pressure rises: update on the genetics of phaeochromocytoma. 9 8
12351569 2002
30
Pheochromocytoma--death of an axiom. 38 8
12000821 2002
31
Case 13-2001: genetic testing in pheochromocytoma. 38 8
11519521 2001
32
A "pheo" lurks: novel approaches for locating occult pheochromocytoma. 38 8
11502790 2001
33
Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 38 8
10369850 1999
34
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 38 71
9506724 1998
35
Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. 38 8
9398721 1997
36
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 9 71
9156047 1997
37
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 38 71
8956040 1996
38
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 9 8
8825918 1995
39
Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. 38 8
8105382 1993
40
A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome. 38 8
6306309 1982
41
Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient. 38 8
490809 1979
42
Familial pheochromocytoma: a report of 2 cases in a kindred. 38 8
458955 1979
43
One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis. 38 8
922654 1977
44
Pheochromocytoma crisis induced by saralasin. Relation of angiotensin analogue to catecholamine release. 38 8
820996 1976
45
Mutation and cancer: neuroblastoma and pheochromocytoma. 38 8
4340974 1972
46
Hypercalcemia and familial pheochromocytoma. Correction after adrenalectomy. 38 8
5015920 1972
47
Further evaluation of the tyramine test for pheochromocytoma. 38 8
5638691 1968
48
[The pheochromocytoma as a dominant hereditary dysgenetic tumor]. 38 8
13886916 1962
49
[The pheochromocytoma of familial character]. 38 8
13716312 1961
50
Pheochromocytoma and Paraganglioma. 38 17
31390501 2019

Variations for Pheochromocytoma

ClinVar genetic disease variations for Pheochromocytoma:

6 (show top 50) (show all 1109)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 2:96920736-96920736 2:96254998-96254998
2 TMEM127 NM_017849.3(TMEM127): c.149dup (p.Pro51fs) duplication Likely pathogenic,risk factor rs121908817 2:96930971-96930971 2:96265233-96265233
3 TMEM127 NM_017849.3(TMEM127): c.410-2A> C single nucleotide variant Likely pathogenic,risk factor rs121908826 2:96919855-96919855 2:96254117-96254117
4 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic rs121908830 2:96919788-96919788 2:96254050-96254050
5 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 3:10183808-10183808 3:10142124-10142124
6 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 1:10425534-10425534 1:10365476-10365476
7 SDHD NM_003002.4(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 11:111958640-111958640 11:112087916-112087916
8 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 3:10191506-10191506 3:10149822-10149822
9 SDHB NM_003000.2(SDHB): c.112del (p.Arg38fs) deletion Pathogenic rs398123690 1:17371344-17371344 1:17044849-17044849
10 SDHD NC_000011.9: g.(?_111965523)_(111965700_?)del deletion Pathogenic 11:111965523-111965700 11:112094799-112094976
11 SDHD NM_003002.4(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 11:111957632-111957632 11:112086908-112086908
12 SDHD NM_003002.4(SDHD): c.337_340del (p.Asp113fs) deletion Pathogenic rs587776648 11:111965551-111965554 11:112094827-112094830
13 SDHD NM_003002.4(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 11:111958657-111958657 11:112087933-112087933
14 SDHD NM_003002.4(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 11:111957664-111957664 11:112086940-112086940
15 SDHD NM_003002.4(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 11:111957645-111957645 11:112086921-112086921
16 SDHD NM_003002.4(SDHD): c.57del (p.Leu20fs) deletion Pathogenic rs587776649 11:111958585-111958585 11:112087861-112087861
17 SDHD NM_003002.4(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 11:111965555-111965555 11:112094831-112094831
18 SDHD NM_003002.4(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 11:111958623-111958623 11:112087899-112087899
19 SDHD NM_003002.4(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 11:111958592-111958592 11:112087868-112087868
20 SDHD NM_003002.4(SDHD): c.187_188TC[2] (p.Leu64fs) short repeat Pathogenic rs387906358 11:111959612-111959613 11:112088888-112088889
21 SDHD NM_003002.4(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 11:111957634-111957634 11:112086910-112086910
22 SDHD NM_003002.4(SDHD): c.92_93TC[1] (p.Ala33fs) short repeat Pathogenic rs397514034 11:111958622-111958623 11:112087898-112087899
23 SDHD NM_003002.4(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 11:111959663-111959663 11:112088939-112088939
24 SDHD NM_003002.4(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 11:111959695-111959695 11:112088971-112088971
25 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 1:17359573-17359573 1:17033078-17033078
26 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 1:17349143-17349143 1:17022648-17022648
27 SDHB NM_003000.2(SDHB): c.714_715CT[1] (p.Ser239fs) short repeat Pathogenic rs587781266 1:17349149-17349152 1:17022654-17022657
28 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 1:17371377-17371377 1:17044882-17044882
29 SDHB NM_003000.2(SDHB): c.136C> G (p.Arg46Gly) single nucleotide variant Pathogenic rs74315370 1:17371320-17371320 1:17044825-17044825
30 SDHB NM_003000.2(SDHB): c.302G> A (p.Cys101Tyr) single nucleotide variant Pathogenic rs74315371 1:17355216-17355216 1:17028721-17028721
31 SDHB NM_003000.2(SDHB): c.299C> T (p.Ser100Phe) single nucleotide variant Pathogenic rs121917755 1:17355219-17355219 1:17028724-17028724
32 RET NM_020630.5(RET): c.1852T> G (p.Cys618Gly) single nucleotide variant Pathogenic rs76262710 10:43609096-43609096 10:43113648-43113648
33 RET NM_020630.5(RET): c.1900T> G (p.Cys634Gly) single nucleotide variant Pathogenic rs75076352 10:43609948-43609948 10:43114500-43114500
34 RET NM_020630.5(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic rs75996173 10:43609949-43609949 10:43114501-43114501
35 RET NM_020630.5(RET): c.1901G> C (p.Cys634Ser) single nucleotide variant Pathogenic rs75996173 10:43609949-43609949 10:43114501-43114501
36 RET NM_020630.5(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 10:43609949-43609949 10:43114501-43114501
37 RET NM_020630.5(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic rs75076352 10:43609948-43609948 10:43114500-43114500
38 RET NM_020630.5(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic rs77709286 10:43609950-43609950 10:43114502-43114502
39 RET NM_020630.5(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 10:43617416-43617416 10:43121968-43121968
40 SDHB NC_000001.10: g.(?_17359549)_(17359646_?)del deletion Pathogenic 1:17359549-17359646 1:17033054-17033151
41 SDHB NM_003000.2(SDHB): c.608del (p.Gly203fs) deletion Pathogenic rs1553177436 1:17350502-17350502 1:17024007-17024007
42 SDHB NM_003000.2(SDHB): c.505C> T (p.Gln169Ter) single nucleotide variant Pathogenic rs1553177676 1:17354279-17354279 1:17027784-17027784
43 SDHB NM_003000.2(SDHB): c.491del (p.Gln164fs) deletion Pathogenic rs1553177678 1:17354293-17354293 1:17027798-17027798
44 TMEM127 NM_017849.3(TMEM127): c.117_120del (p.Ile41fs) deletion Pathogenic rs121908816 2:96931000-96931003 2:96265262-96265265
45 SDHB NC_000001.10: g.(?_17371256)_(17371383_?)del deletion Pathogenic 1:17371256-17371383 1:17044761-17044888
46 SDHB NM_003000.2(SDHB): c.591del (p.Ser198fs) deletion Pathogenic rs1060503757 1:17350519-17350519 1:17024024-17024024
47 SDHB NM_003000.2(SDHB): c.717dup (p.Leu240fs) duplication Pathogenic rs1060503764 1:17349151-17349151 1:17022656-17022656
48 SDHB NM_003000.2(SDHB): c.620_621del (p.Leu207fs) deletion Pathogenic rs1060503752 1:17350489-17350490 1:17023994-17023995
49 SDHB NM_003000.2(SDHB): c.602G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs1060503759 1:17350508-17350508 1:17024013-17024013
50 SDHB NM_003000.2(SDHB): c.499A> T (p.Lys167Ter) single nucleotide variant Pathogenic rs1060503753 1:17354285-17354285 1:17027790-17027790

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

74 (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 53)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 32
2 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 32
3 COSM18097 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 32
4 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 32
5 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 32
6 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 32
7 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 32
8 COSM17982 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 32
9 COSM236660 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 32
10 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 32
11 COSM965 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 32
12 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 17:31225134-31225134 32
13 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 17:31221932-31221932 32
14 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 32
15 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 32
16 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 32
17 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 32
18 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69Xfs*7 17:31159009-31159009 32
19 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 32
20 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 32
21 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 32
22 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 32
23 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 17:31227607-31227607 32
24 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 32
25 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 32
26 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 32
27 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 32
28 COSM499 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.182A>G p.Q61R 11:533874-533874 32
29 COSM496 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.181C>A p.Q61K 11:533875-533875 32
30 COSM486 HRAS adrenal gland,adrenal gland,pheochromocytoma,benign c.37G>C p.G13R 11:534286-534286 32
31 COSM1732355 H3-3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 32
32 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 8:38417331-38417331 32
33 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 32
34 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 32
35 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 32
36 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 32
37 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 24
38 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 24
39 COSM14311 VHL adrenal gland,NS,pheochromocytoma,benign c.499C>T p.R167W 3:10149822-10149822 24
40 COSM17988 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 3:10146513-10146513 24
41 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17:31206286-31206286 24
42 COSM27887 GNAS adrenal gland,extraadrenal,pheochromocytoma,NS c.601C>T p.R201C 20:58909365-58909365 24
43 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 2:46380273-46380273 24
44 COSM132853 NFE2L2 kidney,NS,carcinoma,Type 2 c.245A>G p.E82G 2:177234072-177234072 3
45 COSM691 MET kidney,NS,carcinoma,Type 1 c.3803T>C p.M1268T 7:116783420-116783420 3
46 COSM3724572 MET kidney,NS,carcinoma,Type 1 c.3328G>A p.V1110I 7:116777403-116777403 3
47 COSM690 MET kidney,NS,carcinoma,Type 1 c.3742T>C p.Y1248H 7:116783359-116783359 3
48 COSM3724573 MET kidney,NS,carcinoma,Type 1 c.3476C>G p.S1159W 7:116778857-116778857 3
49 COSM3724578 MET kidney,NS,carcinoma,Type 1 c.3637C>T p.L1213F 7:116782048-116782048 3
50 COSM3724575 MET kidney,NS,carcinoma,Type 1 c.3538C>T p.H1180Y 7:116778919-116778919 3

Copy number variations for Pheochromocytoma from CNVD:

7 (show all 13)
# CNVD ID Chromosom 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 rearrangemen t 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 rearrangemen t VHL Pheochromocytoma

Expression for Pheochromocytoma

Search GEO for disease gene expression data for Pheochromocytoma.

Pathways for Pheochromocytoma

GO Terms for Pheochromocytoma

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.87 VHL SDHD SDHC SDHB SDHAF2 SDHA
2 dendrite GO:0030425 9.65 RET NGF NF1 MAX KIF1B
3 axon GO:0030424 9.46 RET NGF NF1 KIF1B
4 respiratory chain complex II GO:0045273 8.96 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 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.72 VHL TMEM127 NGF NF1 ADM
2 electron transport chain GO:0022900 9.65 SDHC SDHB SDHA
3 regulation of the force of heart contraction GO:0002026 9.52 CHGA ADM
4 respiratory electron transport chain GO:0022904 9.51 SDHB SDHA
5 sympathetic nervous system development GO:0048485 9.49 NF1 GDNF
6 G protein-coupled receptor internalization GO:0002031 9.46 CALCA ADM
7 enteric nervous system development GO:0048484 9.43 RET GDNF
8 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.4 RET NF1
9 succinate metabolic process GO:0006105 9.37 SDHB SDHA
10 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
11 peripheral nervous system development GO:0007422 9.33 NGF NF1 GDNF
12 amylin receptor signaling pathway GO:0097647 9.26 CALCA ADM
13 response to pain GO:0048265 9.24 RET
14 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 electron transfer activity GO:0009055 9.46 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase activity GO:0000104 9.26 SDHD SDHA
4 ubiquinone binding GO:0048039 8.96 SDHD SDHB
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHD SDHC SDHB SDHA

Sources for Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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