MCID: PHC003
MIFTS: 72

Pheochromocytoma

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

Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 53 72 49 71 28 13 51 40 41 69
Sporadic Pheochromocytoma/secreting Paraganglioma 49 55
Pheochromocytoma, Susceptibility to 53
Pheochromocytoma, Modifier of 53
Pheochromocytoma, Malignant 69
Chromaffin Cell Neoplasm 69
Medullary Chromaffinoma 71
Medullary Paraganglioma 71
Chromaffin Cell Tumor 71
Pheochromoblastoma 71
Pcc 71

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare endocrine diseases


Summaries for Pheochromocytoma

NIH Rare Diseases : 49 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.  Last updated: 2/7/2018

MalaCards based summary : Pheochromocytoma, also known as sporadic pheochromocytoma/secreting paraganglioma, is related to hereditary paraganglioma-pheochromocytoma syndromes and extra-adrenal pheochromocytoma, and has symptoms including proteinuria, congestive heart failure and hypercalcemia. An important gene associated with Pheochromocytoma is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, testes and thyroid, and related phenotypes are Decreased viability and Decreased viability

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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.

MedlinePlus : 40 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

Wikipedia : 72 Pheochromocytoma (PCC) is a neuroendocrine tumor of the medulla of the adrenal glands (originating in... more...

Related Diseases for Pheochromocytoma

Diseases in the Pheochromocytoma family:

Sporadic Pheochromocytoma

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

(show top 50) (show all 314)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 34.3 KIF1B MAX RET SDHA SDHB SDHC
2 extra-adrenal pheochromocytoma 34.2 PNMT SDHB SDHC SDHD
3 sporadic pheochromocytoma 33.8 MAX NF1 RET SDHB SDHC SDHD
4 multiple endocrine neoplasia, type iia 33.5 CALCA GDNF MEN1 NF1 RET SDHB
5 paragangliomas 1 33.5 SDHB SDHC SDHD
6 von hippel-lindau syndrome 33.0 CHGA CHGB MEN1 NF1 PNMT RET
7 multiple endocrine neoplasia, type iib 32.6 CALCA GDNF MEN1 RET
8 paraganglioma 31.4 CALCA CHGA NF1 RET SDHA SDHB
9 ganglioneuroma 31.4 CHGA RET SYP
10 thyroid carcinoma, familial medullary 31.0 CALCA CHGA GDNF MEN1 RET
11 neurofibromatosis, type iv, of riccardi 30.9 MEN1 NF1 RET SDHB SDHC SDHD
12 hyperparathyroidism 30.9 CALCA CHGA MEN1 RET
13 multiple endocrine neoplasia 30.8 CALCA CHGA GDNF MEN1 NF1 PNMT
14 primary hyperparathyroidism 30.7 CALCA CHGA MEN1 RET
15 neuroma 30.6 CALCA GDNF NGF RET
16 islet cell tumor 30.6 CALCA CHGA MEN1
17 pancreatic islet cell tumors 30.4 CALCA MEN1
18 neuroendocrine tumor 30.4 CALCA CHGA CHGB MEN1 SDHD SYP
19 parathyroid adenoma 30.4 CALCA CHGA MEN1 RET
20 gastrointestinal stromal tumor 30.4 CHGA NF1 SDHA SDHB SDHC SDHD
21 carcinoid syndrome 30.3 CALCA CHGA MEN1 SYP
22 carney triad 30.2 SDHA SDHB SDHC SDHD
23 mitochondrial complex ii deficiency 30.2 SDHA SDHB SDHC SDHD
24 multiple endocrine neoplasia, type i 29.9 CHGA MEN1 RET SDHB SDHD SYP
25 glucagonoma 29.8 CHGA CHGB
26 pheochromocytoma--islet cell tumor syndrome 12.1
27 adrenal gland pheochromocytoma 12.1
28 pheochromocytoma, childhood 12.0
29 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.0
30 adrenal carcinoma 11.5
31 paragangliomas 4 11.3
32 nonsyndromic paraganglioma 11.2
33 acromegaly 11.2
34 appendix adenocarcinoma 10.9
35 adrenal gland disease 10.9
36 paragangliomas 2 10.8
37 paragangliomas 3 10.8
38 paraganglioma and gastric stromal sarcoma 10.8 SDHB SDHC SDHD
39 chondroma 10.8 SDHB SDHC SDHD
40 ureter small cell carcinoma 10.8 CHGA SYP
41 medullary sponge kidney 10.8 GDNF RET
42 esophageal neuroendocrine tumor 10.8 CHGA SYP
43 urinary bladder small cell neuroendocrine carcinoma 10.8 CHGA SYP
44 pancreatic serous cystadenoma 10.7 CHGA SYP VHL
45 glomus tumor 10.7 SDHB SDHD SYP
46 ovarian large-cell neuroendocrine carcinoma 10.7 CHGA SYP
47 goldberg-shprintzen syndrome 10.7 GDNF NGF RET
48 auditory system cancer 10.7 CHGA SYP
49 algoneurodystrophy 10.7 CALCA NGF
50 adenoma of the pancreas 10.7 CHGA SYP

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Pheochromocytoma:

55 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 55 31 Frequent (79-30%) HP:0000093
2 congestive heart failure 55 31 Occasional (29-5%) HP:0001635
3 hypercalcemia 55 31 Frequent (79-30%) HP:0003072
4 cerebral hemorrhage 55 31 Frequent (79-30%) HP:0001342
5 hypertensive retinopathy 55 31 Frequent (79-30%) HP:0001095
6 elevated urinary norepinephrine 55 31 Frequent (79-30%) HP:0003345
7 positive regitine blocking test 55 31 Frequent (79-30%) HP:0003574
8 fatigue 55 Frequent (79-30%)
9 tremor 55 Occasional (29-5%)
10 chest pain 55 Frequent (79-30%)
11 nausea 55 Frequent (79-30%)
12 recurrent paroxysmal headache 55 Frequent (79-30%)
13 flushing 55 Frequent (79-30%)
14 hyperhidrosis 31 HP:0000975
15 dysphonia 55 Frequent (79-30%)
16 pallor 55 Occasional (29-5%)
17 neoplasm 31 HP:0002664
18 weight loss 55 Frequent (79-30%)
19 hematuria 55 Occasional (29-5%)
20 pheochromocytoma 31 HP:0002666
21 conductive hearing impairment 55 Occasional (29-5%)
22 episodic abdominal pain 55 Frequent (79-30%)
23 vocal cord paralysis 55 Occasional (29-5%)
24 tachycardia 31 HP:0001649
25 cafe-au-lait spot 31 HP:0000957
26 sinus tachycardia 55 Frequent (79-30%)
27 hemangioma 31 HP:0001028
28 paraganglioma 55 Very frequent (99-80%)
29 congenital cataract 31 HP:0000519
30 glomerulosclerosis 55 Frequent (79-30%)
31 palpitations 55 Frequent (79-30%)
32 cranial nerve compression 55 Occasional (29-5%)
33 renal artery stenosis 31 HP:0001920
34 extraadrenal pheochromocytoma 55 Very frequent (99-80%)
35 adrenal pheochromocytoma 55 Very frequent (99-80%)
36 episodic paroxysmal anxiety 55 Frequent (79-30%)
37 episodic hyperhidrosis 55 Frequent (79-30%)
38 hypertension associated with pheochromocytoma 55 Frequent (79-30%)
39 paraganglioma of head and neck 55 Frequent (79-30%)
40 elevated urinary epinephrine 55 Frequent (79-30%)
41 pulsatile tinnitus 55 Frequent (79-30%)
42 paroxysmal vertigo 55 Frequent (79-30%)
43 elevated urinary dopamine 55 Frequent (79-30%)
44 panic attack 55 Occasional (29-5%)
45 episodic hypertension 31 HP:0000875

UMLS symptoms related to Pheochromocytoma:


tremor, headache, fever, chest pain, abdominal pain

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.55 NF1 RET SDHD VHL MAX
3 Decreased viability GR00221-A-3 9.55 MAX
4 Decreased viability GR00221-A-4 9.55 NF1 RET SDHD
5 Decreased viability GR00231-A 9.55 RET
6 Decreased viability GR00301-A 9.55 RET VHL
7 Decreased viability GR00381-A-1 9.55 SDHD
8 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Pheochromocytoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 NF1 CHGA CHGB NGF KIF1B PNMT
2 cardiovascular system MP:0005385 10.29 NF1 CHGA GDNF NGF KIF1B PNMT
3 mortality/aging MP:0010768 10.24 ADM NF1 CHGA GDNF NGF KIF1B
4 endocrine/exocrine gland MP:0005379 10.17 MEN1 ADM NF1 CHGA CHGB GDNF
5 embryo MP:0005380 10.06 MEN1 ADM NF1 KIF1B MAX RET
6 muscle MP:0005369 9.92 ADM MEN1 NF1 NGF GDNF KIF1B
7 neoplasm MP:0002006 9.8 MEN1 NF1 TH VHL SDHB SDHD
8 no phenotypic analysis MP:0003012 9.7 CHGA CHGB NGF TH RET TMEM127
9 normal MP:0002873 9.61 NF1 NGF PNMT RET TH VHL
10 renal/urinary system MP:0005367 9.17 ADM CHGA NF1 GDNF RET VHL

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 148)
# 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
4 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
5 Adrenergic alpha-Antagonists Phase 4,Phase 3,Phase 2
6 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
7 Antihypertensive Agents Phase 4,Phase 3,Phase 2
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
9 Vasodilator Agents Phase 4,Phase 3,Phase 2
10
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
11
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
12
Ifosfamide Approved Phase 3 3778-73-2 3690
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
15
Doxil Approved June 1999 Phase 3,Phase 2 31703
16 3-Iodobenzylguanidine Phase 3,Phase 2,Phase 1
17 Radiopharmaceuticals Phase 3,Phase 2,Phase 1
18 Hormone Antagonists Phase 2, Phase 3,Phase 1
19 Hormones Phase 2, Phase 3,Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Alkylating Agents Phase 3,Phase 2,Phase 1
22 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
23 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
24 Isophosphamide mustard Phase 3 0
25 Topoisomerase Inhibitors Phase 3,Phase 2
26
Indinavir Approved Phase 2 150378-17-9 5362440
27
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
28
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
29 Racepinephrine Approved Phase 2 329-65-7
30
Carbidopa Approved Phase 2 28860-95-9 38101 34359
31
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
32
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
33
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
34
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
35
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
36
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
37
Iodine Approved, Investigational Phase 1, Phase 2 7553-56-2 807
38
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
39
Tamoxifen Approved Phase 2 10540-29-1 2733526
40
Melphalan Approved Phase 2 148-82-3 460612 4053
41
Pancrelipase Approved, Investigational Phase 2 53608-75-6
42
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
43
Dacarbazine Approved, Investigational Phase 2,Phase 1 4342-03-4 5351166
44
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
45
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 6400441 383414
46
Lenvatinib Approved, Investigational Phase 2 417716-92-8
47
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
48
nivolumab Approved Phase 2 946414-94-4
49
Pembrolizumab Approved Phase 2 1374853-91-4
50
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551

Interventional clinical trials:

(show top 50) (show all 85)

# 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 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
13 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2 Sunitinib
14 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
15 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
16 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
17 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
18 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2 isolated perfusion;melphalan
19 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
20 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
21 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
22 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
23 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
24 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid solution
25 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
26 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)
27 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
28 MIBG Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2 MIBG
29 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2 PEN-221
30 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
31 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
32 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)
33 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
34 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
35 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
36 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
37 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
38 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
39 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
40 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
41 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
42 Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum Completed NCT00005860 Phase 1 floxuridine;leucovorin calcium;oxaliplatin
43 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
44 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
45 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
46 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Unknown status NCT02186678
47 Evaluation of Plasma Catecholamine Concentration During Surgery Unknown status NCT00948181
48 Quantitative Measurement of Myocardial Perfusion by Cardiac CT in Patients Unknown status NCT02361996
49 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
50 Expanded Access Protocol for [123I]mIBG for Patients With Known or Suspected Neuroblastoma Approved for marketing NCT00730444 Iobenguane I 123 Injection

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: pheochromocytoma

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

# Genetic test Affiliating Genes
1 Pheochromocytoma 28 GDNF KIF1B MAX RET SDHB SDHD TMEM127 VHL

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

38
Adrenal Gland, Testes, Thyroid, Heart, Kidney, Liver, Lung

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 1530)
# Title Authors Year
1
An Interesting Presentation of Pheochromocytoma. ( 29422732 )
2018
2
Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )
2018
3
Re: Presentation and Surgery Outcomes in Elderly with Pheochromocytoma: A Comparative Analysis with Young Patients. ( 29357529 )
2018
4
DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas. ( 28924001 )
2018
5
Laparoscopic approach to pheochromocytoma in pregnancy: case report. ( 29412551 )
2018
6
Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )
2018
7
Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )
2018
8
Genomic Landscape of Pheochromocytoma and Paraganglioma. ( 29413423 )
2018
9
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
10
Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )
2018
11
Rodent models of pheochromocytoma, parallels in rodent and human tumorigenesis. ( 29427052 )
2018
12
Adrenal Collision Tumor Composed of Adrenocortical Adenoma and Pheochromocytoma. ( 29363662 )
2018
13
A rare presentation of pheochromocytoma in pregnancy: a case report. ( 29422092 )
2018
14
Detection of brown adipose tissue by<sup>18</sup>F-FDG PET/CT in pheochromocytoma/paraganglioma: A systematic review. ( 29443440 )
2018
15
Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. ( 29409060 )
2018
16
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
17
Neuroprotective Effects of Bioactive Compounds and MAPK Pathway Modulation in "Ischemia"-Stressed PC12 Pheochromocytoma Cells. ( 29419806 )
2018
18
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )
2018
19
Investigation of amyloid formation inhibition of chemically and biogenically from Citrus aurantium L. blossoms and Rose damascena oils of gold nanoparticles: Toxicity evaluation in rat pheochromocytoma PC12 cells. ( 29425864 )
2018
20
Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review. ( 29361475 )
2018
21
A case of pheochromocytoma crisis simulating acute coronary syndrome and multiple organ dysfunction syndrome. ( 29452308 )
2018
22
Clinical Predictors of Malignancy in Patients with Pheochromocytoma and Paraganglioma. ( 28884434 )
2017
23
Undiagnosed Pheochromocytoma Simulating Malignant Hyperthermia. ( 28665830 )
2017
24
ARHI is a novel epigenetic silenced tumor suppressor in sporadic pheochromocytoma. ( 29156798 )
2017
25
Malignant pheochromocytoma in the anterior mediastinum with sternal invasion: a case report. ( 28449504 )
2017
26
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. ( 28374168 )
2017
27
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste. ( 28837713 )
2017
28
MicroRNA 183 family profiles in pheochromocytomas are related to clinical parameters and SDHB expression. ( 28412207 )
2017
29
Plasma Methoxytyramine: Clinical Utility with Metanephrines for Diagnosis of Pheochromocytoma and Paraganglioma. ( 28476870 )
2017
30
Giant pheochromocytoma in type 1 neuro bromatosis patient. ( 28484203 )
2017
31
Protective effects of bellidifolin in hypoxia-induced in pheochromocytoma cells (PC12) and underlying mechanisms. ( 28895799 )
2017
32
Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1. ( 28919049 )
2017
33
New Perspectives on Pheochromocytoma and Paraganglioma: Towards a Molecular Classification. ( 28938417 )
2017
34
Multimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 28902732 )
2017
35
Pheochromocytoma Multisystem Crisis Behaving Like Interstitial Pneumonia: An Autopsy Case. ( 28090043 )
2017
36
New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma. ( 28867159 )
2017
37
Hypertensive crisis in pregnancy due to a metamorphosing pheochromocytoma with postdelivery Cushing's syndrome. ( 28937294 )
2017
38
Anthracyclines suppress pheochromocytoma cell characteristics, including metastasis, through inhibition of the hypoxia signaling pathway. ( 28423608 )
2017
39
Incidental Detection of Synchronous Medullary Thyroid Carcinoma with Bilateral Adrenal Pheochromocytoma on Iodine-123 Metaiodobenzylguanidine Scintigraphy, Leading to Diagnosis of Multiple Endocrine Neoplasia 2A. ( 28553188 )
2017
40
Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma. ( 28458909 )
2017
41
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. ( 28384794 )
2017
42
Pheochromocytoma in a Child without Hypertension: A Contribution to the "Rule of 10s". ( 28469338 )
2017
43
Looking beyond the thyroid: advances in understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms. ( 28874394 )
2017
44
Pheochromocytoma with Synchronous Ipsilateral Adrenal Cortical Adenoma. ( 28762170 )
2017
45
Anaesthetic management for pheochromocytoma resection in a 5-year-old boy with cerebral haemorrhage and intestinal obstruction. ( 29256547 )
2017
46
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste-Reply. ( 28837712 )
2017
47
Surgical Treatment of Malignant Pheochromocytoma and Paraganglioma: Retrospective Case Series. ( 28058556 )
2017
48
Pheochromocytoma of the bladder. ( 28953019 )
2017
49
Pheochromocytoma of Urinary Bladder in a Dialysis PatientPheochromocytoma of Urinary Bladder. ( 28064451 )
2017
50
Development and validation of a liquid chromatography tandem mass spectrometry method for the measurement of urinary catecholamines in diagnosis of pheochromocytoma. ( 28481409 )
2017

Variations for Pheochromocytoma

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

71 (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
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 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 GDNF NM_000514.3(GDNF): c.277C> T (p.Arg93Trp) single nucleotide variant risk factor rs36119840 GRCh37 Chromosome 5, 37816112: 37816112
2 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
3 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
4 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
5 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
6 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
7 SDHB NM_003000.2(SDHB): c.136C> G (p.Arg46Gly) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
8 SDHB NM_003000.2(SDHB): c.302G> A (p.Cys101Tyr) single nucleotide variant Pathogenic rs74315371 GRCh37 Chromosome 1, 17355216: 17355216
9 SDHB NM_003000.2(SDHB): c.299C> T (p.Ser100Phe) single nucleotide variant Pathogenic rs121917755 GRCh37 Chromosome 1, 17355219: 17355219
10 RET NM_020975.4(RET): c.1900T> G (p.Cys634Gly) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
11 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
12 RET NM_020630.4(RET): c.1901G> C (p.Cys634Ser) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
13 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
14 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
15 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
16 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
17 RET NM_020975.4(RET): c.2944C> T (p.Arg982Cys) single nucleotide variant risk factor rs17158558 GRCh37 Chromosome 10, 43620335: 43620335
18 RET NM_020975.4(RET): c.2410G> A (p.Val804Met) single nucleotide variant Pathogenic/Likely pathogenic rs79658334 GRCh37 Chromosome 10, 43614996: 43614996
19 RET NM_020975.5(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
20 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic,risk factor rs387906650 GRCh37 Chromosome 14, 65544703: 65544703
21 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic,risk factor rs387906651 GRCh37 Chromosome 14, 65560500: 65560500
22 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
23 TMEM127 NM_017849.3(TMEM127): c.-18C> T single nucleotide variant Likely pathogenic rs121908813 GRCh37 Chromosome 2, 96931137: 96931137
24 TMEM127 NM_017849.3(TMEM127): c.419G> A (p.Cys140Tyr) single nucleotide variant Likely pathogenic rs121908828 GRCh38 Chromosome 2, 96254106: 96254106
25 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh37 Chromosome 2, 96920712: 96920715
26 TMEM127 NM_017849.3(TMEM127): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121908814 GRCh37 Chromosome 2, 96931117: 96931117
27 TMEM127 NM_017849.3(TMEM127): c.409+1G> T single nucleotide variant Likely pathogenic rs121908825 GRCh37 Chromosome 2, 96920570: 96920570
28 TMEM127 NM_017849.3(TMEM127): c.418T> C (p.Cys140Arg) single nucleotide variant Likely pathogenic rs121908827 GRCh37 Chromosome 2, 96919845: 96919845
29 TMEM127 NM_017849.3(TMEM127): c.447G> A (p.Trp149Ter) single nucleotide variant Likely pathogenic rs121908829 GRCh37 Chromosome 2, 96919816: 96919816
30 TMEM127 NM_017849.3(TMEM127): c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs) duplication Likely pathogenic rs121908831 GRCh37 Chromosome 2, 96919623: 96919636
31 TMEM127 NM_017849.3(TMEM127): c.76C> T (p.Gln26Ter) single nucleotide variant Likely pathogenic rs121908815 GRCh37 Chromosome 2, 96931044: 96931044
32 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
33 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
34 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh38 Chromosome 1, 17022649: 17022649
35 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
36 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh37 Chromosome 1, 17355175: 17355175
37 TMEM127 NM_017849.3(TMEM127): c.410-2A> C single nucleotide variant Likely pathogenic,risk factor rs121908826 GRCh37 Chromosome 2, 96919855: 96919855
38 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121908830 GRCh37 Chromosome 2, 96919788: 96919788
39 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 GRCh37 Chromosome 2, 96920736: 96920736
40 TMEM127 NM_017849.3(TMEM127): c.149_150insA (p.Pro51Alafs) insertion Likely pathogenic,risk factor rs121908817 GRCh37 Chromosome 2, 96930971: 96930971
41 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
42 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
43 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Pathogenic rs104893827 GRCh37 Chromosome 3, 10183719: 10183719
44 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
45 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
46 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
47 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
48 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
49 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
50 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632

Cosmic variations for Pheochromocytoma:

9 (show top 50) (show all 137)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM17666 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.593T>C p.L198P 21
2 COSM14311 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.499C>T p.R167W 21
3 COSM5885100 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.250G>A p.V84M 21
4 COSM329087 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.4558C>T p.Q1520* 21
5 COSM24441 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.3721C>T p.R1241* 21
6 COSM236660 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 20
7 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 20
8 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 20
9 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 20
10 COSM18097 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 20
11 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 20
12 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 20
13 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 20
14 COSM17982 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 20
15 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 20
16 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 20
17 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 20
18 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 20
19 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 20
20 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 20
21 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 20
22 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 20
23 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 20
24 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 20
25 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 20
26 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 20
27 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 20
28 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 20
29 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 20
30 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 20
31 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 20
32 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 20
33 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 20
34 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 20
35 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 20
36 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 20
37 COSM17988 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 17
38 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 17
39 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 17
40 COSM966 RET adrenal gland,extraadrenal,pheochromocytoma,NS c.1900T>C p.C634R 17
41 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17
42 COSM27887 GNAS adrenal gland,extraadrenal,pheochromocytoma,NS c.601C>T p.R201C 17
43 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 17
44 COSM6444480 VHL autonomic ganglia,abdomen,paraganglioma,benign c.191G>C p.R64P 7
45 COSM6444478 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1615G>T p.D539Y 7
46 COSM6188568 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1589C>T p.A530V 7
47 COSM6476264 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1600C>A p.P534T 7
48 COSM6476263 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1599C>G p.I533M 7
49 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 3
50 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 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 terminal bouton GO:0043195 9.33 CALCA SYP TH
2 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
3 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 16)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.85 GDNF MEN1 NF1 RET
2 regulation of receptor activity GO:0010469 9.85 ADM CALCA CHGB GDNF NGF
3 negative regulation of cell proliferation GO:0008285 9.8 ADM MEN1 NF1 TMEM127 VHL
4 electron transport chain GO:0022900 9.71 SDHA SDHB SDHC
5 sympathetic nervous system development GO:0048485 9.56 GDNF NF1
6 positive regulation of adenylate cyclase activity GO:0045762 9.52 CALCA NF1
7 G-protein coupled receptor internalization GO:0002031 9.51 ADM CALCA
8 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.49 NF1 RET
9 enteric nervous system development GO:0048484 9.48 GDNF RET
10 succinate metabolic process GO:0006105 9.43 SDHA SDHB
11 amylin receptor signaling pathway GO:0097647 9.37 ADM CALCA
12 positive regulation of cAMP metabolic process GO:0030816 9.33 ADM CALCA CHGA
13 catecholamine biosynthetic process GO:0042423 9.32 PNMT TH
14 epinephrine biosynthetic process GO:0042418 9.26 PNMT TH
15 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHC SDHD
16 tricarboxylic acid cycle GO:0006099 8.92 SDHA SDHB 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 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
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65 SNOMED-CT via HPO
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