PCC
MCID: PHC003
MIFTS: 70

Pheochromocytoma (PCC)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 57 11 19 75 73 28 12 53 5 41 43 14 38 71
Pheochromocytoma, Susceptibility to 57 5
Chromaffin Paraganglioma of the Adrenal Gland 19
Adrenal Gland Chromaffin Paraganglioma 19
Adrenal Gland Pheochromocytoma 19
Pheochromocytoma, Malignant 71
Adrenal Gland Chromaffinoma 19
Adrenal Gland Paraganglioma 19
Intraadrenal Paraganglioma 19
Chromaffin Cell Neoplasm 71
Medullary Chromaffinoma 73
Medullary Paraganglioma 73
Chromaffin Cell Tumor 73
Pheochromoblastoma 73
Phaeochromocytoma 11
Pheochromocytomas 14
Pcc 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



Summaries for Pheochromocytoma

GARD: 19 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 multiple endocrine neoplasia, type iia and hereditary paraganglioma-pheochromocytoma syndromes, and has symptoms including tremor, fever and abdominal pain. An important gene associated with Pheochromocytoma is TMEM127 (Transmembrane Protein 127), and among its related pathways/superpathways are Neuroscience and glycolysis (BioCyc). The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, heart and thyroid, and related phenotypes are hyperhidrosis and proteinuria

MedlinePlus: 41 Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. Although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. This can lead to high blood pressure and cause symptoms such as : Headaches Sweating Pounding of the heart Being shaky Being extremely pale Sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (MEN). People with MEN often have other cancers and other problems involving hormones. Doctors use lab tests and imaging tests to diagnose it. Surgery is the most common treatment. Other options include radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses drugs or other substances that attack specific cancer cells with less harm to normal cells. NIH: National Cancer Institute

OMIM®: 57 Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002). Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2. Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200) and concluded that it fits. Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma. (171300) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Wikipedia: 75 Pheochromocytoma (PHEO or PCC) is a rare tumor of the adrenal medulla composed of chromaffin cells, also... more...

Related Diseases for Pheochromocytoma

Diseases in the Pheochromocytoma family:

Malignant Pheochromocytoma

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

(show top 50) (show all 1105)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iia 33.6 VHL TMEM127 SDHD SDHC SDHB SDHA
2 hereditary paraganglioma-pheochromocytoma syndromes 33.5 VHL TMEM127 SDHD SDHC SDHB SDHA
3 paraganglioma 33.4 VHL TMEM127 SDHD SDHC SDHB SDHA
4 extra-adrenal pheochromocytoma 33.3 TMEM127 SDHD SDHC SDHB SDHA RET
5 malignant pheochromocytoma 33.3 TMEM127 SDHD SDHC SDHB SDHA RET
6 paragangliomas 4 33.1 SDHD SDHB
7 von hippel-lindau syndrome 33.1 VHL TMEM127 SDHD SDHC SDHB SDHA
8 multiple endocrine neoplasia, type iib 33.0 TMEM127 SDHD SDHB RET NF1 GDNF
9 multiple endocrine neoplasia 33.0 VHL SDHD SDHC SDHB RET NF1
10 sporadic pheochromocytoma/secreting paraganglioma 32.9 VHL SDHD SDHB RET
11 paragangliomas 1 32.9 SDHD SDHC SDHB SDHA
12 nonsyndromic paraganglioma 32.7 SDHB RET CHGA
13 adrenal carcinoma 32.5 SDHD SDHB RET NF1 CHGA
14 neuroendocrine tumor 32.3 SDHD RET NF1 CHGB CHGA CALCA
15 neurofibromatosis 32.3 VHL SDHD SDHC SDHB RET NF1
16 neurofibromatosis, type i 32.2 VHL TMEM127 SDHD SDHC SDHB SDHA
17 thyroid carcinoma, familial medullary 32.1 VHL RET GDNF CHGA CALCA
18 thyroid gland medullary carcinoma 32.0 RET GDNF CHGA CALCA
19 gastrointestinal stromal tumor 31.9 TMEM127 SDHD SDHC SDHB SDHA RET
20 conn's syndrome 31.7 RET CHGA CALCA ADM
21 multiple endocrine neoplasia, type i 31.7 VHL SDHD SDHC SDHB RET NF1
22 hyperparathyroidism 31.6 RET CHGA CALCA
23 adrenal cortical adenoma 31.6 SDHD SDHC CHGA
24 paraganglioma and gastric stromal sarcoma 31.4 TMEM127 SDHD SDHC SDHB SDHA RET
25 primary hyperparathyroidism 31.4 RET CHGB CHGA CALCA
26 bap1 tumor predisposition syndrome 31.4 VHL TMEM127 SDHD SDHC SDHB SDHA
27 inherited cancer-predisposing syndrome 31.4 VHL TMEM127 SDHD SDHC SDHB SDHA
28 carcinoid tumors, intestinal 31.3 CHGB CHGA
29 mitochondrial complex ii deficiency 31.3 SDHD SDHC SDHB SDHA
30 hemangioma 31.3 VHL RET CHGA CALCA
31 parathyroid adenoma 31.2 RET CHGB CHGA CALCA
32 islet cell tumor 31.2 RET CHGA CALCA
33 neural crest tumor 31.2 SDHD SDHC SDHB SDHA
34 neuroma 31.2 RET NGF NF1 GDNF CALCA
35 carcinoid syndrome 31.2 SDHD CHGA CALCA
36 thyroid gland cancer 31.1 TMEM127 SDHD SDHB RET NF1 GDNF
37 adrenal medulla cancer 31.1 TMEM127 SDHD SDHC SDHB SDHA RET
38 mitochondrial complex ii deficiency, nuclear type 1 31.0 SDHD SDHA
39 adrenal cortical carcinoma 31.0 SDHD SDHB RET NF1 H19 CHGA
40 neuroblastoma 30.9 SDHB RET NGF NF1 MEG3 MAX
41 multiple mucosal neuroma 30.9 TMEM127 RET NF1 GDNF CALCA
42 adrenal neuroblastoma 30.8 CHGB CHGA
43 somatostatinoma 30.7 NF1 CHGA CALCA
44 fumarase deficiency 30.7 SDHD SDHB SDHA
45 papillary carcinoma 30.7 RET CHGA CALCA
46 quadriplegia 30.7 SDHD SDHB SDHA
47 hashimoto thyroiditis 30.6 SDHA RET CALCA
48 acoustic neuroma 30.6 SDHD NF1 GDNF
49 diabetic neuropathy 30.5 NGF GDNF CALCA
50 chondroma 30.4 SDHD SDHC SDHB SDHA NF1

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Human phenotypes related to Pheochromocytoma:

30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 30 HP:0000975
2 proteinuria 30 HP:0000093
3 congestive heart failure 30 HP:0001635
4 neoplasm 30 HP:0002664
5 hypercalcemia 30 HP:0003072
6 hemangioma 30 HP:0001028
7 pheochromocytoma 30 HP:0002666
8 cerebral hemorrhage 30 HP:0001342
9 tachycardia 30 HP:0001649
10 cafe-au-lait spot 30 HP:0000957
11 developmental cataract 30 HP:0000519
12 renal artery stenosis 30 HP:0001920
13 hypertensive retinopathy 30 HP:0001095
14 elevated urinary norepinephrine 30 HP:0003345
15 positive regitine blocking test 30 HP:0003574
16 episodic hypertension 30 HP:0000875

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Lab:
proteinuria
hypercalcemia
elevated urinary norepinephrine
positive regitine test

Neuro:
cerebral hemorrhage

Eyes:
hypertensive retinopathy
congenital cataracts
retinal angiomatosis

Skin:
cafe-au-lait spots
sweating
hemangiomata

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

Cardiac:
congestive heart failure
tachycardia

Vascular:
renal artery stenosis

Endocrine:
episodic hypertension

Oncology:
adrenal medullary tumor

Clinical features from OMIM®:

171300 (Updated 08-Dec-2022)

UMLS symptoms related to Pheochromocytoma:


tremor; fever; abdominal pain; chest pain; headache

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 9.66 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.66 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.66 MAX
4 Decreased viability GR00221-A-4 9.66 NF1 RET SDHD
5 Decreased viability GR00249-S 9.66 NF1 SDHD VHL
6 Decreased viability GR00301-A 9.66 RET VHL
7 Decreased viability GR00381-A-1 9.66 SDHD
8 Decreased viability GR00386-A-1 9.66 MAX NF1
9 Decreased viability GR00402-S-2 9.66 RET
10 Increased sensitivity to paclitaxel GR00112-A-0 8.65 VHL

MGI Mouse Phenotypes related to Pheochromocytoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ADM CALCA CHGA CHGB KIF1B NF1
2 muscle MP:0005369 10.02 ADM CHGA GDNF KIF1B MEG3 NF1
3 renal/urinary system MP:0005367 9.97 ADM CALCA CHGA GDNF NF1 RET
4 neoplasm MP:0002006 9.95 CALCA NF1 RET SDHB SDHC SDHD
5 embryo MP:0005380 9.81 ADM CALCA KIF1B MAX MEG3 NF1
6 behavior/neurological MP:0005386 9.73 ADM CALCA GDNF KIF1B NF1 NGF
7 mortality/aging MP:0010768 9.5 ADM CALCA CHGA GDNF KIF1B MAX

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4 59-96-1 4768
3 Antihypertensive Agents Phase 4
4 Adrenergic Antagonists Phase 4
5 Adrenergic alpha-Antagonists Phase 4
6 Adrenergic alpha-1 Receptor Antagonists Phase 4
7 Vasodilator Agents Phase 4
8
Lenograstim Approved, Investigational Phase 3 135968-09-1
9
Ifosfamide Approved Phase 3 3778-73-2 3690
10
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
11
Palifosfamide Investigational Phase 3 31645-39-3 100427
12 Radiopharmaceuticals Phase 3
13 3-Iodobenzylguanidine Phase 3
14 Anti-Bacterial Agents Phase 3
15 Antibiotics, Antitubercular Phase 3
16 Liposomal doxorubicin Phase 3
17
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
18
Magnesium sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9
19
Atenolol Approved Phase 2 29122-68-7 2249
20
Dexmedetomidine Approved, Experimental, Vet_approved Phase 2 86347-14-0, 113775-47-6 68602 5311068
21
Labetalol Approved Phase 2 36894-69-6 3869
22
Prazosin Approved Phase 2 19216-56-9 4893
23
Ramipril Approved Phase 2 87333-19-5 5362129
24
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
25
Candesartan cilexetil Approved Phase 2 145040-37-5
26
Bisoprolol Approved Phase 2 66722-44-9 2405
27
Propranolol Approved, Investigational Phase 2 318-98-9, 525-66-6 62882 4946
28
Metyrosine Approved Phase 2 672-87-7 441350
29
Carbidopa Approved Phase 2 28860-95-9 34359 38101
30
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
31
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
32
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
33
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
34
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
35
Cisplatin Approved Phase 2 15663-27-1 2767 5702198 441203
36
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
37
Tamoxifen Approved Phase 2 10540-29-1, 54965-24-1 2733526
38
Olaparib Approved Phase 2 763113-22-0 23725625
39
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
40
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
41
Nivolumab Approved Phase 1, Phase 2 946414-94-4
42
Lanreotide Approved Phase 2 108736-35-2 71349 6918011
43
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
44
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
45
Ipilimumab Approved Phase 2 477202-00-9
46
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
47
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
48
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
49
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
50
Isotretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4, 4759-48-2 5538 444795 5282379

Interventional clinical trials:

(show top 50) (show all 101)
# Name Status NCT ID Phase Drugs
1 Pheochromocytoma Randomised Study Comparing Adrenoreceptor Inhibiting Agents for Preoperative Treatment Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
2 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
3 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
4 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
5 An Open-Label, Multicentre, Phase 3 Scintigraphy Study Assessing 123I-mIBG Uptake in Subjects Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
6 METASTASECTOMY AND CHEMOTHERAPY FOR LUNG METASTASES FROM SOFT TISSUE SARCOMA: A RANDOMIZED PHASE III STUDY (AN INTERGROUP STUDY WITH THE SCANDINAVIAN SARCOMA GROUP) Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
7 Randomized Controlled Trial of Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
8 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Unknown status NCT00874614 Phase 2
9 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
10 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Completed NCT03008369 Phase 2 Lenvatinib
11 A Phase I Study Evaluating the Maximum Tolerated Dose, Dosimetry, Safety, and Efficacy of Ultratrace Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
12 The Perioperative Use of Dexmedetomidine and Magnesium Sulfate Compared With Traditional Anesthetic Technique for Open Resection of Pheochromocytoma. Completed NCT04320589 Phase 2 Dexmedetomidine;General anesthetic
13 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Completed NCT01967576 Phase 2 Axitinib (AG-013736)
14 (131)I-Metaiodobenzylguanidine Treatment of Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
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 Completed NCT00923481 Phase 2 Fostamatinib disodium
16 A Phase II Study of 131I-labeled Metaiodobenzylguanidine (MIBG) for Treatment of Patients With Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
17 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
18 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Completed NCT01371201 Phase 2 Sunitinib;Placebo
19 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
20 A Phase II Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib S-malate
21 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
22 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
23 A Phase 2 Study of Anlotinib in Patients With Metastatic Pheochromocytoma or Paraganglioma Recruiting NCT04860700 Phase 2 anlotinib hydrochloride
24 A Multicenter Open-label Study to Evaluate Safety and Dosimetry of Lutathera in Adolescent Patients With Somatostatin Receptor Positive Gastroenteropancreatic Neuroendocrine (GEP-NET) Tumors, Pheochromocytoma and Paragangliomas (PPGL) Recruiting NCT04711135 Phase 2 Lutetium [177Lu] oxodotreotide/dotatate
25 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
26 A Phase II, Non-Randomized, Open-Label, Single-center, Physician Sponsored Study to Determine the Safety and Effectiveness of Lu-177 DOTATOC in Adult Subjects With Somatostatin Receptor Expressing Pulmonary, Pheochromocytoma, paragangliomUnknown Primary, and Thymus Neuroendocrine Tumors (PUTNET) or Any Other Non-.GEP-NET. Recruiting NCT04276597 Phase 2 177Lu-DOTATOC
27 A Phase 1/2 Trial of a Novel Therapeutic Vaccine (EO2401) in Combination With Immune Check Point Blockade, for Treatment of Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma, or Malignant Pheochromocytoma/Paraganglioma Recruiting NCT04187404 Phase 1, Phase 2
28 A Prospective Phase II Efficacy and Safety Study of Anlotinib in Metastatic or Locally Advanced Pheochromocytoma/ Paraganglioma : Open-label Single-arm, Exploratory Trial. Recruiting NCT05133349 Phase 2 Anlotinib
29 A Phase 2 Study to Evaluate the Efficacy and Safety of Belzutifan (MK-6482, Formerly PT2977) Monotherapy in Participants With Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), or Von Hippel-Lindau (VHL) Disease-Associated Tumors Recruiting NCT04924075 Phase 2 Belzutifan
30 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
31 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Recruiting NCT03946527 Phase 2 Lanreotide
32 Open Access Protocol of Targeted Radiotherapy With I-metaiodobenzylguanidine (I-MIBG) in Patients With Resistant Neuroblastoma or Malignant Chromaffin Cell Tumors Recruiting NCT00107289 Phase 2
33 Exploratory Basket Trial of Cabozantinib Plus Atezolizumab in Advanced and Progressive Neoplasms of the Endocrine System. CABATEN Study Recruiting NCT04400474 Phase 2 Cabozantinib 40 mg
34 Rapid Analysis and Response Evaluation of Combination Anti-Neoplastic Agents in Rare Tumors (RARE CANCER) Trial: RARE 2 Talazoparib and Temozolomide Recruiting NCT05142241 Phase 2 Talazoparib;Temozolomide
35 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
36 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Active, not recruiting NCT02721732 Phase 2
37 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
38 A Phase I/IIa First-in-Human Study of [212Pb]VMT-α-NET Targeted Alpha-Particle Therapy for Advanced SSTR2 Positive Neuroendocrine Tumors Not yet recruiting NCT05636618 Phase 1, Phase 2 [212Pb]VMT-α-NET,
39 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
40 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Terminated NCT03165721 Phase 2 SGI-110 (guadecitabine)
41 Clinical Trial of Sir-Spheres® in Patients With Symptomatic or Progressive Hepatic Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
42 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Withdrawn NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
43 Phase I Trial of Peptide Receptor Radiotherapy (PRRT) With 177Lu-DOTA-tyr3-Octreotate (177Lu-DOTATATE) in Children and Adolescents With Neuroendocrine Tumor or Pheochromocytoma/Paraganglioma Withdrawn NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
44 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
45 A Phase I Trial of the mTOR Inhibitor RAD001 in Combination With VEGF Receptor Tyrosine Kinase Inhibitor PTK787/ZK 222584 in Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
46 Phase 1 Study Evaluating the Safety, Distribution, Metabolism, and Radiation Dosimetry of ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
47 A Phase I, Open Label, Maximum Tolerated Dose-Finding Study to Evaluate the Safety and Tolerability of 90Y-DOTA-tyr3-Octreotide Administered by Intravenous Infusion to Children With Refractory Somatostatin-Receptor Positive Tumors Completed NCT00049023 Phase 1
48 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);([18F]-6F-DA)
49 A Phase I Study of [111In-DTPA-D-Phe]-Octreotide in Patients With Refractory Malignancies Expressing Somatostatin Receptors Terminated NCT00002947 Phase 1
50 A Phase 1 Study of Veliparib (ABT-888) in Combination With Capecitabine and Temozolomide in Advanced Well-Differentiated Neuroendocrine Tumors Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib

Search NIH Clinical Center for Pheochromocytoma

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


Metyrosine
Phenoxybenzamine
Phenoxybenzamine Hydrochloride
Propranolol
Propranolol Hydrochloride

Cochrane evidence based reviews: pheochromocytoma

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

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

Anatomical Context for Pheochromocytoma

Organs/tissues related to Pheochromocytoma:

MalaCards : Adrenal Gland, Heart, Thyroid, Pituitary, Kidney, Bone, Lung
ODiseA: Blood And Bone Marrow, Kidney

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 20887)
# Title Authors PMID Year
1
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 53 62 57 5
20503330 2010
2
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 53 62 57 5
20154675 2010
3
Evidence of MEN-2 in the original description of classic pheochromocytoma. 53 62 57 5
17898100 2007
4
Germ-line mutations in nonsyndromic pheochromocytoma. 53 62 57 5
12000816 2002
5
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 53 62 57 5
11156372 2000
6
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 53 62 57 5
8592333 1995
7
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 62 57 5
21685915 2011
8
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 62 57 5
18334619 2008
9
Novel pheochromocytoma susceptibility loci identified by integrative genomics. 62 57 5
16266984 2005
10
Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 57 5
9663592 1998
11
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. 53 62 5
19584903 2010
12
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 53 62 5
19802898 2010
13
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 53 62 5
19215943 2009
14
The Warburg effect is genetically determined in inherited pheochromocytomas. 53 62 5
19763184 2009
15
Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. 53 62 5
19261679 2009
16
Penetrance and clinical consequences of a gross SDHB deletion in a large family. 53 62 5
19389109 2009
17
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 53 62 5
19411806 2009
18
Predominant expression of mutated allele of the succunate dehydrogenase D (SDHD) gene in the SDHD-related paragangliomas. 53 62 5
19550080 2009
19
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 53 62 5
18726616 2008
20
Germline SDHB mutations and familial renal cell carcinoma. 53 62 5
18728283 2008
21
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 53 62 5
18551016 2008
22
Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 53 62 5
18382370 2008
23
Cells silenced for SDHB expression display characteristic features of the tumor phenotype. 53 62 5
18519664 2008
24
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 53 62 5
18362451 2008
25
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 53 62 5
18211978 2008
26
Molecular characterisation of a common SDHB deletion in paraganglioma patients. 53 62 5
18057081 2008
27
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. 53 62 5
17652212 2007
28
Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report. 53 62 5
17943698 2007
29
Novel SDHD germ-line mutations in pheochromocytoma patients. 53 62 5
17576205 2007
30
Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas. 53 62 5
17308434 2007
31
Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. 53 62 5
17102086 2006
32
SDH mutations in patients affected by paraganglioma syndromes: a personal experience. 53 62 5
17102085 2006
33
The occurrence of SDHB gene mutations in pheochromocytoma. 53 62 5
17102084 2006
34
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 53 62 5
17102082 2006
35
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 53 62 5
16317055 2006
36
An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years. 53 62 5
16472267 2006
37
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. 53 62 5
16405730 2006
38
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene. 53 62 5
15476441 2004
39
K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma. 53 62 5
15473885 2004
40
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. 53 62 5
15328326 2004
41
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. 53 62 5
14685938 2004
42
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. 53 62 5
14974914 2003
43
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 53 62 5
14500403 2003
44
Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. 53 62 5
12618761 2003
45
The pressure rises: update on the genetics of phaeochromocytoma. 53 62 57
12351569 2002
46
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 53 62 5
11404820 2001
47
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 53 62 5
10522989 1999
48
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 53 62 57
9215674 1997
49
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 53 62 5
9156047 1997
50
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 53 62 5
7563486 1995

Variations for Pheochromocytoma

ClinVar genetic disease variations for Pheochromocytoma:

5 (show top 50) (show all 1802)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM127 NM_017849.4(TMEM127):c.410-2A>C SNV Pathogenic
Risk Factor
107 rs121908826 GRCh37: 2:96919855-96919855
GRCh38: 2:96254117-96254117
2 VHL NM_000551.4(VHL):c.188T>C (p.Leu63Pro) SNV Pathogenic
2227 rs104893827 GRCh37: 3:10183719-10183719
GRCh38: 3:10142035-10142035
3 SDHD NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) SNV Pathogenic
Pathogenic
6916 rs104894310 GRCh37: 11:111957645-111957645
GRCh38: 11:112086921-112086921
4 RET NM_020975.6(RET):c.1901G>C (p.Cys634Ser) SNV Pathogenic
13910 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
5 SDHD NM_003002.3(SDHD):c.-84_*831del DEL Pathogenic
239459 GRCh37: 11:111957548-111966525
GRCh38: 11:112086824-112095801
6 SDHB NM_003000.2(SDHB):c.-151_*159del DEL Pathogenic
239419 GRCh37: 1:17345217-17380665
GRCh38: 1:17018722-17054170
7 SDHB NM_003000.3(SDHB):c.271A>T (p.Arg91Ter) SNV Pathogenic
239427 rs878854575 GRCh37: 1:17359570-17359570
GRCh38: 1:17033075-17033075
8 SDHB NM_003000.3(SDHB):c.126del (p.Phe42fs) DEL Pathogenic
239421 rs878854572 GRCh37: 1:17371330-17371330
GRCh38: 1:17044835-17044835
9 SDHB NM_003000.3(SDHB):c.299C>T (p.Ser100Phe) SNV Pathogenic
Uncertain Significance
12788 rs121917755 GRCh37: 1:17355219-17355219
GRCh38: 1:17028724-17028724
10 SDHB NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) SNV Pathogenic
12786 rs74315371 GRCh37: 1:17355216-17355216
GRCh38: 1:17028721-17028721
11 SDHB NM_003000.3(SDHB):c.602G>A (p.Trp201Ter) SNV Pathogenic
412470 rs1060503759 GRCh37: 1:17350508-17350508
GRCh38: 1:17024013-17024013
12 SDHB NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter) SNV Pathogenic
412476 rs1060503763 GRCh37: 1:17354343-17354343
GRCh38: 1:17027848-17027848
13 SDHB NM_003000.3(SDHB):c.499A>T (p.Lys167Ter) SNV Pathogenic
412456 rs1060503753 GRCh37: 1:17354285-17354285
GRCh38: 1:17027790-17027790
14 SDHB NC_000001.11:g.(?_17044761)_(17044888_?)del DEL Pathogenic
417581 GRCh37: 1:17371256-17371383
GRCh38: 1:17044761-17044888
15 SDHB NM_003000.3(SDHB):c.620_621del (p.Leu207fs) DEL Pathogenic
412454 rs1060503752 GRCh37: 1:17350489-17350490
GRCh38: 1:17023994-17023995
16 SDHB NM_003000.3(SDHB):c.374C>G (p.Ser125Ter) SNV Pathogenic
412455 rs786203506 GRCh37: 1:17355144-17355144
GRCh38: 1:17028649-17028649
17 SDHB NM_003000.3(SDHB):c.697A>T (p.Lys233Ter) SNV Pathogenic
468235 rs1553177285 GRCh37: 1:17349171-17349171
GRCh38: 1:17022676-17022676
18 SDHB NM_003000.3(SDHB):c.331_332del (p.Leu111fs) MICROSAT Pathogenic
412453 rs1060503751 GRCh37: 1:17355186-17355187
GRCh38: 1:17028691-17028692
19 SDHB NC_000001.10:g.(?_17380437)_(17380520_?)del DEL Pathogenic
468232 GRCh37: 1:17380437-17380520
GRCh38:
20 SDHB NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) INSERT Pathogenic
468238 rs1209914140 GRCh37: 1:17349182-17349183
GRCh38: 1:17022687-17022688
21 SDHB NM_003000.3(SDHB):c.190del (p.Asp64fs) DEL Pathogenic
468233 rs1553178729 GRCh37: 1:17371266-17371266
GRCh38: 1:17044771-17044771
22 SDHB NM_003000.3(SDHB):c.505C>T (p.Gln169Ter) SNV Pathogenic
528736 rs1553177676 GRCh37: 1:17354279-17354279
GRCh38: 1:17027784-17027784
23 SDHB NM_003000.3(SDHB):c.608del (p.Gly203fs) DEL Pathogenic
528737 rs1553177436 GRCh37: 1:17350502-17350502
GRCh38: 1:17024007-17024007
24 SDHB NM_003000.3(SDHB):c.491del (p.Gln164fs) DEL Pathogenic
528750 rs1553177678 GRCh37: 1:17354293-17354293
GRCh38: 1:17027798-17027798
25 SDHB NC_000001.11:g.(?_17033054)_(17033151_?)del DEL Pathogenic
528762 GRCh37: 1:17359549-17359646
GRCh38: 1:17033054-17033151
26 SDHD NC_000011.10:g.(?_112094799)_(112094976_?)del DEL Pathogenic
533799 GRCh37: 11:111965523-111965700
GRCh38: 11:112094799-112094976
27 SDHD NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) SNV Pathogenic
142068 rs587782210 GRCh37: 11:111958683-111958683
GRCh38: 11:112087959-112087959
28 SDHB NM_003000.3(SDHB):c.399dup (p.Tyr134fs) DUP Pathogenic
579501 rs1557741425 GRCh37: 1:17355118-17355119
GRCh38: 1:17028623-17028624
29 SDHB NM_003000.3(SDHB):c.112del (p.Arg38fs) DEL Pathogenic
528741 rs398123690 GRCh37: 1:17371344-17371344
GRCh38: 1:17044849-17044849
30 SDHB NM_003000.3(SDHB):c.607_616del (p.Gly203fs) DEL Pathogenic
142653 rs587782617 GRCh37: 1:17350494-17350503
GRCh38: 1:17023999-17024008
31 SDHD NC_000011.10:g.(?_112088857)_(112094980_?)del DEL Pathogenic
583435 GRCh37: 11:111959581-111965704
GRCh38: 11:112088857-112094980
32 SDHB NC_000001.11:g.(?_17033050)_(17033155_?)del DEL Pathogenic
583569 GRCh37: 1:17359545-17359650
GRCh38: 1:17033050-17033155
33 SDHB NC_000001.11:g.(?_17053938)_(17054029_?)del DEL Pathogenic
583582 GRCh37: 1:17380433-17380524
GRCh38: 1:17053938-17054029
34 SDHB NC_000001.11:g.(?_17018875)_(17033151_?)del DEL Pathogenic
583909 GRCh37: 1:17345370-17359646
GRCh38: 1:17018875-17033151
35 overlap with 2 genes NC_000001.11:g.(?_17018881)_(17071491_?)del DEL Pathogenic
584021 GRCh37: 1:17345376-17397986
GRCh38: 1:17018881-17071491
36 SDHD NC_000011.10:g.(?_112086898)_(112094980_?)del DEL Pathogenic
Pathogenic
584168 GRCh37: 11:111957622-111965704
GRCh38: 11:112086898-112094980
37 SDHD NC_000011.10:g.(?_112094795)_(112094980_?)del DEL Pathogenic
584289 GRCh37: 11:111965519-111965704
GRCh38: 11:112094795-112094980
38 SDHB NM_003000.3(SDHB):c.148_151dup (p.Lys51fs) DUP Pathogenic
642012 rs1570958022 GRCh37: 1:17371304-17371305
GRCh38: 1:17044809-17044810
39 SDHB NM_003000.3(SDHB):c.609_622dup (p.Gly208fs) DUP Pathogenic
642173 rs1570945796 GRCh37: 1:17350487-17350488
GRCh38: 1:17023992-17023993
40 SDHB NC_000001.11:g.(?_17018871)_(17018968_?)del DEL Pathogenic
649062 GRCh37: 1:17345366-17345463
GRCh38: 1:17018871-17018968
41 SDHB NC_000001.11:g.(?_17044751)_(17044898_?)del DEL Pathogenic
649629 GRCh37: 1:17371246-17371393
GRCh38: 1:17044751-17044898
42 SDHB NC_000001.11:g.(?_17018871)_(17054029_?)del DEL Pathogenic
646398 GRCh37: 1:17345366-17380524
GRCh38: 1:17018871-17054029
43 SDHB NM_003000.3(SDHB):c.143_144dup (p.Pro49fs) DUP Pathogenic
656223 rs1570958038 GRCh37: 1:17371311-17371312
GRCh38: 1:17044816-17044817
44 SDHB NM_003000.3(SDHB):c.63dup (p.Cys22fs) DUP Pathogenic
658395 rs1570963451 GRCh37: 1:17380451-17380452
GRCh38: 1:17053956-17053957
45 SDHB NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer) DUP Pathogenic
662440 rs1570944850 GRCh37: 1:17349160-17349161
GRCh38: 1:17022665-17022666
46 SDHB NM_003000.3(SDHB):c.653G>A (p.Trp218Ter) SNV Pathogenic
664580 rs1553177290 GRCh37: 1:17349215-17349215
GRCh38: 1:17022720-17022720
47 SDHB NM_003000.3(SDHB):c.70C>T (p.Gln24Ter) SNV Pathogenic
664893 rs1570963430 GRCh37: 1:17380445-17380445
GRCh38: 1:17053950-17053950
48 SDHB NC_000001.11:g.(?_17018881)_(17044898_?)del DEL Pathogenic
831498 GRCh37: 1:17345376-17371393
GRCh38:
49 overlap with 22 genes NC_000011.9:g.(?_111171709)_(111965694_?)del DEL Pathogenic
Pathogenic
831566 GRCh37: 11:111171709-111965694
GRCh38:
50 SDHB NC_000001.11:g.(?_17053938)_(17054019_?)del DEL Pathogenic
831621 GRCh37: 1:17380433-17380514
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

73 (show top 50) (show all 60)
# 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 rs1570958009
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 rs1553619948
46 VHL p.Phe136Cys VAR_005737 rs5030833
47 VHL p.Tyr156Cys VAR_005743 rs397516441
48 VHL p.Arg161Gln VAR_005751 rs730882035
49 VHL p.Arg161Pro VAR_005752
50 VHL p.Arg167Gln VAR_005761 rs5030821

Cosmic variations for Pheochromocytoma:

8 (show top 50) (show all 145)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88301868 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 26
2 COSM90654925 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 26
3 COSM88294143 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 26
4 COSM90652830 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.373G>T p.V125F 3:10149819-10149819 26
5 COSM88293303 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 26
6 COSM88288959 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 26
7 COSM88296074 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 26
8 COSM88292246 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 26
9 COSM90652721 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.368A>G p.Q123R 3:10149814-10149814 26
10 COSM88292324 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 26
11 COSM90657160 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 26
12 COSM88305342 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 26
13 COSM90653943 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>G p.K118E 3:10149798-10149798 26
14 COSM90668341 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.369G>T p.Q123H 3:10149815-10149815 26
15 COSM88292236 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 26
16 COSM90652730 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 26
17 COSM90648957 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.359G>A p.R120Q 3:10149805-10149805 26
18 COSM90664073 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.341-3225T>G p.? 3:10146562-10146562 26
19 COSM90811579 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 26
20 COSM92347003 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.2753T>C p.M918T 10:43121968-43121968 26
21 COSM142343426 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1289+3268T>C p.? 10:43114500-43114500 26
22 COSM142343204 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.*102T>C p.? 10:43121968-43121968 26
23 COSM92347226 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 26
24 COSM90811811 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 26
25 COSM93530486 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 26
26 COSM93656552 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 26
27 COSM93692982 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 26
28 COSM93650970 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 26
29 COSM120509060 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 26
30 COSM93535461 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 26
31 COSM109968573 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 26
32 COSM109960979 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 26
33 COSM93512112 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.G629R 17:31225134-31225134 26
34 COSM93508888 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 26
35 COSM93509879 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.? 17:31227607-31227607 26
36 COSM120509488 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 26
37 COSM93507010 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7237C>T p.Q2413* 17:31349230-31349230 26
38 COSM93662933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 26
39 COSM93654948 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 26
40 COSM93504734 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 26
41 COSM93507162 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 26
42 COSM120515658 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 26
43 COSM93650764 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 26
44 COSM93517207 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7519C>T p.Q2507* 17:31352381-31352381 26
45 COSM109960306 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1724A>T p.Y575F 17:31221932-31221932 26
46 COSM93652933 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 26
47 COSM93668028 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 26
48 COSM93647950 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.? 17:31221932-31221932 26
49 COSM93688082 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 26
50 COSM109961525 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.? 17:31159009-31159009 26

Copy number variations for Pheochromocytoma from CNVD:

6 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13345 1 1 125000000 Copy number Pheochromocytoma
2 16420 1 124300000 128000000 In SDHC Pheochromocytoma
3 21561 1 159550789 159601159 Genomic rearrangement SDHC Pheochromocytoma
4 23647 1 17217811 17253252 Genomic rearrangement SDHB Pheochromocytoma
5 48332 3 10158318 10168746 Deletion VHL Pheochromocytoma
6 49867 11 111462831 111471727 Genomic rearrangement SDHD Pheochromocytoma
7 76422 13 31100000 77800000 Gain Pheochromocytoma
8 106795 17 1 22200000 In NF1 Pheochromocytoma
9 107003 17 11200000 15900000 Deletion Pheochromocytoma
10 107513 17 15900000 22100000 Deletion Pheochromocytoma
11 15475 1 115900000 117600000 Deletion SDHB Pheochromocytoma
12 166348 3 10158318 10168746 Genomic rearrangement VHL Pheochromocytoma
13 112077 17 37844392 37884914 Gain 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 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 9.23 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.76 SDHA SDHB SDHC SDHD
2 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.73 RET NF1
3 peripheral nervous system development GO:0007422 9.73 NGF NF1 GDNF
4 succinate metabolic process GO:0006105 9.62 SDHB SDHA
5 electron transport chain GO:0022900 9.58 SDHC SDHB SDHA
6 tricarboxylic acid cycle GO:0006099 9.56 SDHD SDHC SDHB SDHA
7 amylin receptor signaling pathway GO:0097647 9.54 CALCA ADM
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.23 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.56 SDHD SDHB
2 electron transfer activity GO:0009055 9.56 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase activity GO:0000104 9.46 SDHC SDHA
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.1 SDHD SDHB SDHA

Sources for Pheochromocytoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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