PCC
MCID: PHC003
MIFTS: 72

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 58 12 77 54 76 30 13 56 6 44 45 15 41 74
Pheochromocytoma, Susceptibility to 58 6
Pheochromocytoma, Modifier of 58 6
Chromaffin Paraganglioma of the Adrenal Gland 54
Adrenal Gland Chromaffin Paraganglioma 54
Adrenal Gland Pheochromocytoma 54
Adrenal Gland Chromaffinoma 54
Adrenal Gland Paraganglioma 54
Pheochromocytoma, Malignant 74
Intraadrenal Paraganglioma 54
Chromaffin Cell Neoplasm 74
Medullary Chromaffinoma 76
Medullary Paraganglioma 76
Chromaffin Cell Tumor 76
Pheochromoblastoma 76
Phaeochromocytoma 12
Pcc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pheochromocytoma

NIH Rare Diseases : 54 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 Doxazosin and Phenoxybenzamine 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 : 58 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 : 44 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 : 76 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 : 77 Pheochromocytomas (PH or PCC) are tumors arising from chromaffin cells of the adrenal medulla that... 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 471)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 34.7 KIF1B MAX RET SDHA SDHAF2 SDHB
2 extra-adrenal pheochromocytoma 34.6 SDHAF2 SDHB SDHC SDHD
3 malignant pheochromocytoma 34.3 CALCA CHGA SDHB
4 sporadic pheochromocytoma 34.1 MAX NF1 RET SDHB SDHC SDHD
5 multiple endocrine neoplasia, type iia 33.9 CALCA GDNF MEN1 NF1 RET SDHB
6 paragangliomas 1 33.7 CHGA RET SDHB SDHC SDHD
7 von hippel-lindau syndrome 33.5 CHGA CHGB MEN1 NF1 RET SDHB
8 multiple endocrine neoplasia, type iib 33.4 CALCA GDNF MEN1 RET
9 paraganglioma 33.1 CHGA MAX NF1 RET SDHA SDHAF2
10 neuroendocrine tumor 32.8 CALCA CHGA CHGB MEN1
11 multiple endocrine neoplasia 31.5 CALCA CHGA GDNF MEN1 NF1 RET
12 neurofibromatosis, type iv, of riccardi 31.5 NF1 RET SDHB SDHC SDHD VHL
13 thyroid carcinoma, familial medullary 31.4 CALCA CHGA CHGB GDNF MEN1 RET
14 hyperparathyroidism 31.1 CALCA CHGA MEN1 RET
15 primary hyperparathyroidism 31.0 CALCA CHGA MEN1 RET
16 neuroma 31.0 CALCA GDNF NGF RET
17 thyroid cancer 30.9 CALCA CHGA GDNF H19 RET
18 parathyroid adenoma 30.8 CALCA CHGA MEN1 RET
19 carcinoid syndrome 30.7 CALCA CHGA MEN1
20 islet cell tumor 30.7 CALCA CHGA MEN1
21 gastrointestinal stromal tumor 30.6 CHGA MEN1 NF1 SDHA SDHB SDHC
22 hemangioma 30.6 CHGA RET VHL
23 mitochondrial complex ii deficiency 30.5 SDHA SDHAF2 SDHB SDHC SDHD
24 constipation 30.5 CALCA GDNF RET
25 multiple endocrine neoplasia, type i 30.5 CHGA MEN1 RET SDHB SDHD
26 lung oat cell carcinoma 30.4 CALCA CHGA
27 paraganglioma and gastric stromal sarcoma 30.4 SDHB SDHC SDHD
28 carney triad 30.3 SDHA SDHB SDHC SDHD
29 adrenal medulla cancer 30.3 CHGA RET SDHAF2 SDHB SDHC SDHD
30 carcinoid tumors, intestinal 30.2 CHGA CHGB MEN1 SDHD
31 endocrine gland cancer 30.2 CALCA CHGA MEN1 RET
32 adrenocortical carcinoma, hereditary 30.0 ADM CHGA H19
33 glucagonoma 30.0 CHGA CHGB
34 adrenal gland pheochromocytoma 12.6
35 malignant pediatric adrenal gland pheochromocytoma 12.3
36 pheochromocytoma--islet cell tumor syndrome 12.3
37 pheochromocytoma, childhood 12.2
38 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.1
39 sporadic pheochromocytoma/secreting paraganglioma 12.0
40 paragangliomas 4 11.8
41 adrenal carcinoma 11.6
42 propionic acidemia 11.4
43 acromegaly 11.4
44 nonsyndromic paraganglioma 11.4
45 paragangliomas 2 11.3
46 paragangliomas 3 11.3
47 cataract 4, multiple types 11.3
48 microcephaly 1, primary, autosomal recessive 11.2
49 cataract congenital dominant non nuclear 11.1
50 appendix adenocarcinoma 11.0

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Human phenotypes related to Pheochromocytoma:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 proteinuria 33 HP:0000093
3 neoplasm 33 HP:0002664
4 congestive heart failure 33 HP:0001635
5 pheochromocytoma 33 HP:0002666
6 hypercalcemia 33 HP:0003072
7 cerebral hemorrhage 33 HP:0001342
8 tachycardia 33 HP:0001649
9 cafe-au-lait spot 33 HP:0000957
10 hemangioma 33 HP:0001028
11 renal artery stenosis 33 HP:0001920
12 hypertensive retinopathy 33 HP:0001095
13 elevated urinary norepinephrine 33 HP:0003345
14 positive regitine blocking test 33 HP:0003574
15 episodic hypertension 33 HP:0000875
16 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Lab:
proteinuria
hypercalcemia
elevated urinary norepinephrine
positive regitine test

Neuro:
cerebral hemorrhage

Eyes:
hypertensive retinopathy
congenital cataracts
retinal angiomatosis

Oncology:
adrenal medullary tumor

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

Cardiac:
congestive heart failure
tachycardia

Vascular:
renal artery stenosis

Skin:
cafe-au-lait spots
sweating
hemangiomata

Endocrine:
episodic hypertension

Clinical features from OMIM:

171300

UMLS symptoms related to Pheochromocytoma:


tremor, fever, abdominal pain, headache, chest pain

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

27
# 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ADM CHGA CHGB KIF1B MEN1 NF1
2 cardiovascular system MP:0005385 10.16 ADM CHGA GDNF KIF1B MEN1 NF1
3 endocrine/exocrine gland MP:0005379 10.1 ADM CHGA CHGB GDNF MEN1 NF1
4 mortality/aging MP:0010768 10.1 ADM CHGA GDNF KIF1B MAX MEN1
5 embryo MP:0005380 10.03 ADM KIF1B MAX MEN1 NF1 RET
6 hematopoietic system MP:0005397 10.02 ADM GDNF NF1 RET SDHB SDHC
7 muscle MP:0005369 9.81 ADM CHGA GDNF KIF1B MEN1 NF1
8 neoplasm MP:0002006 9.43 MEN1 NF1 RET SDHB SDHD VHL
9 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 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4,Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4,Phase 3,Phase 2 59-96-1 4768
3 Adrenergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
4 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
6 Antihypertensive Agents Phase 4,Phase 3,Phase 2
7 Adrenergic alpha-Antagonists Phase 4,Phase 3,Phase 2
8 Vasodilator Agents Phase 4,Phase 3,Phase 2
9 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
10
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
11
Lenograstim Approved, Investigational Phase 3 135968-09-1
12
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
13
Ifosfamide Approved Phase 3 3778-73-2 3690
14
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
15
Doxil Approved June 1999 Phase 3,Phase 2 31703
16 3-Iodobenzylguanidine Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Radiopharmaceuticals Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
19 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
20 Alkylating Agents Phase 3,Phase 2,Phase 1
21 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
22
Isophosphamide mustard Phase 3 0
23 Topoisomerase Inhibitors Phase 3,Phase 2
24
Indinavir Approved Phase 2 150378-17-9 5362440
25
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
26
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
27
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
28
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
29
Carbidopa Approved Phase 2 28860-95-9 34359
30
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
31
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
32
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
33
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
34
Iodine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 7553-56-2 807
35
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 5284616 6436030
36
Everolimus Approved Phase 2,Phase 1 159351-69-6 70789204 6442177
37
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
38
Sodium Citrate Approved, Investigational Phase 2 68-04-2
39
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
40
Tamoxifen Approved Phase 2 10540-29-1 2733526
41
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
42
Melphalan Approved Phase 2 148-82-3 460612 4053
43
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
44
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
45
Octreotide Approved, Investigational Phase 1, Phase 2,Phase 2 83150-76-9 6400441 383414
46
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
47
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
48
Lenvatinib Approved, Investigational Phase 2 417716-92-8
49
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
50
Ipilimumab Approved Phase 2 477202-00-9

Interventional clinical trials:

(show top 50) (show all 94)
# Name Status NCT ID Phase Drugs
1 Phenoxybenzamine Versus Doxazosin in PCC Patients Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
2 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
3 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
4 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
5 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
6 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
7 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
8 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
9 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
10 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
11 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
12 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
13 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
14 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
15 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 (Multi-H... Completed NCT00923481 Phase 2 Fostamatinib disodium
16 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
17 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2 isolated perfusion;melphalan
18 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
19 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
20 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
21 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
22 Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
23 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
24 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
25 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
26 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
27 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
28 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), 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)
29 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
30 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
31 MIBG Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2 MIBG
32 Pembrolizumab in Treating Patients With Rare Tumors That Cannot Be Removed by Surgery or Are Metastatic Recruiting NCT02721732 Phase 2
33 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
34 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)
35 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
36 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
37 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
38 LAnreotide in Metastatic Pheochromocytoma / PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
39 Dosimetry Guided PRRT With 177Lu-DOTATATE in Children Not yet recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
40 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
41 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
42 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
43 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
44 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
45 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
46 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
47 Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum Completed NCT00005860 Phase 1 floxuridine;leucovorin calcium;oxaliplatin
48 Diagnosis of Pheochromocytoma Recruiting NCT00004847 Phase 1 Fluorodopamine;F-18 Fluorodopa
49 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
50 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: pheochromocytoma

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

# Genetic test Affiliating Genes
1 Pheochromocytoma 30 GDNF KIF1B MAX RET SDHB SDHD TMEM127 VHL

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

42
Adrenal Gland, Thyroid, Testes, Heart, Kidney, Pituitary, Bone

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 3889)
# Title Authors Year
1
Commentary on an Acute Care Surgery Challenge: Abdominal Aortic Aneurysm and Pheochromocytoma. ( 30629010 )
2019
2
Pheochromocytoma-related cardiomyopathy presenting as broken heart syndrome: Case report and literature review. ( 30641325 )
2019
3
Renal infarction associated with extra-adrenal pheochromocytoma. ( 30851287 )
2019
4
Occult extra-adrenal pheochromocytoma in the urinary bladder. ( 30852507 )
2019
5
Thunderclap Headache and Cerebral Vasoconstriction Secondary to Pheochromocytoma. ( 30801609 )
2019
6
Impact of Extrinsic and Intrinsic Hypoxia on Catecholamine Biosynthesis in Absence or Presence of Hif2α in Pheochromocytoma Cells. ( 31035382 )
2019
7
Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study. ( 30715419 )
2019
8
Expression of PDK1 in malignant pheochromocytoma as a new promising potential therapeutic target. ( 30759304 )
2019
9
Prognostic Factors of Malignant Pheochromocytoma and Paraganglioma: A Combined SEER and TCGA Databases Review. ( 30919391 )
2019
10
Correction: Prognostic Factors of Malignant Pheochromocytoma and Paraganglioma: A Combined SEER and TCGA Databases Review. ( 30986868 )
2019
11
Anti-tumor effects and potential therapeutic response biomarkers in α-emitting meta-211At-astato-benzylguanidine therapy for malignant pheochromocytoma explored by RNA-sequencing. ( 31037122 )
2019
12
Preclinical Evaluation of the Acute Radiotoxicity of the α-Emitting Molecular-Targeted Therapeutic Agent 211At-MABG for the Treatment of Malignant Pheochromocytoma in Normal Mice. ( 31078058 )
2019
13
Incidence and predictive factors of hypoglycemia after pheochromocytoma resection. ( 30467902 )
2019
14
Pheochromocytoma presenting with severe hyperglycemia and metabolic acidosis following intra-articular glucocorticoid administration: a case report. ( 30609924 )
2019
15
Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. ( 30113649 )
2019
16
Impact of 123 I-MIBG scintigraphy on clinical decision making in pheochromocytoma and paraganglioma. ( 30822354 )
2019
17
Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma. ( 30854332 )
2019
18
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. ( 30877234 )
2019
19
Metastatic pheochromocytoma and paraganglioma: recent advances in prognosis and management. ( 30893083 )
2019
20
Genotype-phenotype correlations in pheochromocytoma and paraganglioma. ( 30893643 )
2019
21
FGF21 Levels in Pheochromocytoma/Functional Paraganglioma. ( 30959789 )
2019
22
The role of 68Ga-DOTA-Octreotate (GaTate) PET/CT in follow-up of SDH-associated pheochromocytoma and paraganglioma (PPGL). ( 30977831 )
2019
23
A Previously Unrecognized Monocytic Component of Pheochromocytoma and Paraganglioma. ( 31001800 )
2019
24
Blood Pressure Profile, Catecholamine Phenotype and Target Organ Damage in Pheochromocytoma/Paraganglioma. ( 31009053 )
2019
25
Chromogranin A in the Laboratory Diagnosis of Pheochromocytoma and Paraganglioma. ( 31027285 )
2019
26
Analysis of Short-term Blood Pressure Variability in Pheochromocytoma/Paraganglioma Patients. ( 31083609 )
2019
27
SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center. ( 31104306 )
2019
28
A phase 2 trial of sunitinib in patients with progressive paraganglioma or pheochromocytoma: the SNIPP trial. ( 31105270 )
2019
29
A phase I clinical trial for [131I]meta-iodobenzylguanidine therapy in patients with refractory pheochromocytoma and paraganglioma. ( 31110198 )
2019
30
Performance of 68Ga-DOTA-Conjugated Somatostatin Receptor-Targeting Peptide PET in Detection of Pheochromocytoma and Paraganglioma: A Systematic Review and Metaanalysis. ( 30030341 )
2019
31
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. ( 30050099 )
2019
32
Current status of functional imaging in neuroblastoma, pheochromocytoma, and paraganglioma disease. ( 30182289 )
2019
33
Efficacy and Safety of High-Specific-Activity 131I-MIBG Therapy in Patients with Advanced Pheochromocytoma or Paraganglioma. ( 30291194 )
2019
34
Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma. ( 30301828 )
2019
35
Retroperitoneal paraganglioma: a chameleon masquerading as an adrenal pheochromocytoma. ( 30371110 )
2019
36
Regarding: A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 30409407 )
2019
37
Molecular Profiling of Pheochromocytoma and Abdominal Paraganglioma Stratified by the PASS Algorithm Reveals Chromogranin B as Associated With Histologic Prediction of Malignant Behavior. ( 30451732 )
2019
38
Pheochromocytoma and paraganglioma-an update on diagnosis, evaluation, and management. ( 30603807 )
2019
39
68Ga-DOTATOC PET/CT in the localization of metastatic extra-adrenal paraganglioma and pheochromocytoma compared with 18F-DOPA PET/CT. ( 30630744 )
2019
40
Reply to letter to editor regarding: "A clinical prediction model to estimate the metastatic potential of Pheochromocytoma/paraganglioma: ASES score". ( 30686514 )
2019
41
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma. ( 30698717 )
2019
42
Efficacy and Safety of Ablative Therapy in the Treatment of Patients with Metastatic Pheochromocytoma and Paraganglioma. ( 30736463 )
2019
43
Clinical profiles of patients with surgically resected pheochromocytoma and paraganglioma. ( 30808127 )
2019
44
DOGMA IS MADE TO BE BROKEN. WHY ARE WE POSTPONING CURATIVE SURGERY TO ADMINISTER INEFFECTIVE ALPHA ADRENORECEPTOR BLOCKADE IN MOST PATIENTS UNDERGOING PHEOCHROMOCYTOMA REMOVAL? ( 30817194 )
2019
45
A NECESSITY, NOT A SECOND THOUGHT: PRE-OPERATIVE ALPHA-ADRENOCEPTOR BLOCKADE IN PHEOCHROMOCYTOMA PATIENTS. ( 30817195 )
2019
46
Severe hemodynamic instability during elective surgery for a patient with a giant pheochromocytoma: A case report. ( 30831508 )
2019
47
The Investigation into the Toxic Potential of Iron Oxide Nanoparticles Utilizing Rat Pheochromocytoma and Human Neural Stem Cells. ( 30889833 )
2019
48
Bidirectional ventricular tachycardia in ACTH-producing pheochromocytoma. ( 30897623 )
2019
49
Pheochromocytoma triggers takotsubo syndrome. ( 30903176 )
2019
50
Pheochromocytoma: 20 years of improving surgical care. ( 30922520 )
2019

Variations for Pheochromocytoma

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

76 (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
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

ClinVar genetic disease variations for Pheochromocytoma:

6 (show top 50) (show all 2007)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM127 NM_017849.3(TMEM127): c.410-2A> C single nucleotide variant Likely pathogenic,risk factor rs121908826 GRCh37 Chromosome 2, 96919855: 96919855
2 TMEM127 NM_017849.3(TMEM127): c.410-2A> C single nucleotide variant Likely pathogenic,risk factor rs121908826 GRCh38 Chromosome 2, 96254117: 96254117
3 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic rs121908830 GRCh37 Chromosome 2, 96919788: 96919788
4 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic rs121908830 GRCh38 Chromosome 2, 96254050: 96254050
5 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 GRCh37 Chromosome 2, 96920736: 96920736
6 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 GRCh38 Chromosome 2, 96254998: 96254998
7 TMEM127 NM_017849.3(TMEM127): c.149_150insA (p.Pro51Alafs) insertion Likely pathogenic,risk factor rs121908817 GRCh37 Chromosome 2, 96930971: 96930971
8 TMEM127 NM_017849.3(TMEM127): c.149_150insA (p.Pro51Alafs) insertion Likely pathogenic,risk factor rs121908817 GRCh38 Chromosome 2, 96265233: 96265233
9 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
10 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
11 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh37 Chromosome 3, 10191569: 10191569
12 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh38 Chromosome 3, 10149885: 10149885
13 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
14 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh38 Chromosome 3, 10142038: 10142038
15 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh37 Chromosome 3, 10183719: 10183719
16 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh38 Chromosome 3, 10142035: 10142035
17 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
18 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh38 Chromosome 3, 10142124: 10142124
19 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
20 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh38 Chromosome 1, 10365476: 10365476
21 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
22 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
23 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh37 Chromosome 11, 111957665: 111957665
24 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh38 Chromosome 11, 112086941: 112086941
25 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
26 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
27 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
28 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
29 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
30 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
31 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
32 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831
33 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
34 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
35 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
36 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
37 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh37 Chromosome 11, 111958677: 111958677
38 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh38 Chromosome 11, 112087953: 112087953
39 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
40 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh38 Chromosome 11, 112086908: 112086908
41 SDHD NM_003002.4(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
42 SDHD NM_003002.4(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh38 Chromosome 11, 112087933: 112087933
43 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh37 Chromosome 11, 111957664: 111957664
44 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh38 Chromosome 11, 112086940: 112086940
45 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh37 Chromosome 11, 111957645: 111957645
46 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh38 Chromosome 11, 112086921: 112086921
47 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
48 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
49 SDHD NM_003002.3(SDHD): c.433C> A (p.His145Asn) single nucleotide variant Uncertain significance rs121908984 GRCh37 Chromosome 11, 111965647: 111965647
50 SDHD NM_003002.3(SDHD): c.433C> A (p.His145Asn) single nucleotide variant Uncertain significance rs121908984 GRCh38 Chromosome 11, 112094923: 112094923

Cosmic variations for Pheochromocytoma:

9 (show top 50) (show all 148)
# 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 0
2 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 0
3 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 3:10142080-10142080 0
4 COSM18097 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 0
5 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 0
6 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 0
7 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 0
8 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 0
9 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 0
10 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 0
11 COSM14311 VHL adrenal gland,NS,pheochromocytoma,benign c.499C>T p.R167W 3:10149822-10149822 0
12 COSM17982 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 0
13 COSM236660 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 0
14 COSM17988 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 3:10146513-10146513 0
15 COSM6444480 VHL autonomic ganglia,abdomen,paraganglioma,benign c.191G>C p.R64P 3:10142038-10142038 0
16 COSM10654 TP53 thyroid,NS,carcinoma,medullary carcinoma c.637C>T p.R213* 17:7674894-7674894 0
17 COSM6956576 SMARCA4 thyroid,NS,carcinoma,medullary carcinoma c.2120T>C p.I707T 19:11008020-11008020 0
18 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 10:43113655-43113655 0
19 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 10:43121968-43121968 0
20 COSM5945763 RET thyroid,NS,carcinoma,medullary carcinoma c.1983C>T p.H661H 10:43114583-43114583 0
21 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 0
22 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 10:43114501-43114501 0
23 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 10:43116653-43116653 0
24 COSM5945762 RET thyroid,NS,carcinoma,medullary carcinoma c.2249C>G p.A750G 10:43116696-43116696 0
25 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 10:43113639-43113639 0
26 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 10:43114488-43114488 0
27 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 10:43114638-43114638 0
28 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 10:43113648-43113648 0
29 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 10:43120120-43120120 0
30 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 10:43120100-43120100 0
31 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 10:43114502-43114502 0
32 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 10:43114717-43114717 0
33 COSM249790 RET thyroid,NS,carcinoma,medullary carcinoma c.2680G>A p.G894S 10:43120153-43120153 0
34 COSM1237918 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>A p.C634S 10:43114500-43114500 0
35 COSM6005497 RET thyroid,NS,carcinoma,medullary carcinoma c.1924G>A p.V642I 10:43114524-43114524 0
36 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 10:43114641-43114641 0
37 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 10:43120123-43120123 0
38 COSM5945770 RET thyroid,NS,carcinoma,medullary carcinoma c.2733T>G p.G911G 10:43121948-43121948 0
39 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 10:43120174-43120174 0
40 COSM5945755 RET thyroid,NS,carcinoma,medullary carcinoma c.2771T>C p.F924S 10:43121986-43121986 0
41 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 10:43118392-43118392 0
42 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 10:43116584-43116584 0
43 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 10:43114502-43114502 0
44 COSM5945761 RET thyroid,NS,carcinoma,medullary carcinoma c.2256C>T p.Y752Y 10:43116703-43116703 0
45 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 10:43113654-43113654 0
46 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 10:43120196-43120196 0
47 COSM978 RET thyroid,NS,carcinoma,medullary carcinoma c.1892A>G p.D631G 10:43114492-43114492 0
48 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 10:43114546-43114546 0
49 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 10:43118384-43118384 0
50 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 10:43114488-43114488 0

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 KIF1B SDHA SDHAF2 SDHB SDHC SDHD
2 dendrite GO:0030425 9.65 KIF1B MAX NF1 NGF RET
3 axon GO:0030424 9.46 KIF1B NF1 NGF RET
4 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.77 ADM CALCA CHGB GDNF NGF
2 MAPK cascade GO:0000165 9.71 GDNF MEN1 NF1 RET
3 electron transport chain GO:0022900 9.69 SDHA SDHB SDHC
4 negative regulation of cell proliferation GO:0008285 9.63 ADM MEN1 NF1 NGF TMEM127 VHL
5 cellular response to peptide hormone stimulus GO:0071375 9.57 MAX MEN1
6 regulation of the force of heart contraction GO:0002026 9.56 ADM CHGA
7 respiratory electron transport chain GO:0022904 9.54 SDHA SDHB
8 sympathetic nervous system development GO:0048485 9.52 GDNF NF1
9 enteric nervous system development GO:0048484 9.49 GDNF RET
10 G protein-coupled receptor internalization GO:0002031 9.48 ADM CALCA
11 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.46 NF1 RET
12 succinate metabolic process GO:0006105 9.43 SDHA SDHB
13 peripheral nervous system development GO:0007422 9.43 GDNF NF1 NGF
14 tricarboxylic acid cycle GO:0006099 9.35 SDHA SDHAF2 SDHB SDHC SDHD
15 amylin receptor signaling pathway GO:0097647 9.32 ADM CALCA
16 response to pain GO:0048265 9.25 RET
17 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHA SDHAF2 SDHC SDHD

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 ADM CALCA CHGB
2 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
3 succinate dehydrogenase activity GO:0000104 9.26 SDHA SDHD
4 ubiquinone binding GO:0048039 8.96 SDHB SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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