PCC
MCID: PHC003
MIFTS: 69

Pheochromocytoma (PCC)

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

Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 57 12 74 20 73 29 13 54 6 42 44 15 39 71
Pheochromocytoma, Susceptibility to 57 6
Pheochromocytoma, Modifier of 57 6
Chromaffin Paraganglioma of the Adrenal Gland 20
Adrenal Gland Chromaffin Paraganglioma 20
Adrenal Gland Pheochromocytoma 20
Pheochromocytoma, Malignant 71
Adrenal Gland Chromaffinoma 20
Adrenal Gland Paraganglioma 20
Intraadrenal Paraganglioma 20
Chromaffin Cell Neoplasm 71
Medullary Chromaffinoma 73
Medullary Paraganglioma 73
Chromaffin Cell Tumor 73
Pheochromoblastoma 73
Phaeochromocytoma 12
Pheochromocytomas 15
Pcc 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pheochromocytoma

GARD : 20 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 von hippel-lindau syndrome and multiple endocrine neoplasia, type iia, 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 Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. The drugs Doxorubicin and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, thyroid and heart, and related phenotypes are hyperhidrosis and proteinuria

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

OMIM® : 57 Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002). Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2. Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in 180200) and concluded that it fits. Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma. (171300) (Updated 05-Mar-2021)

MedlinePlus : 42 Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. Although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. This can lead to high blood pressure and cause symptoms such as Headaches Sweating Pounding of the heart Being shaky Being extremely pale Sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (MEN). People with MEN often have other cancers and other problems involving hormones. Doctors use lab tests and imaging tests to diagnose it. Surgery is the most common treatment. Other options include radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses drugs or other substances that attack specific cancer cells with less harm to normal cells. NIH: National Cancer Institute

UniProtKB/Swiss-Prot : 73 Pheochromocytoma: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.

Wikipedia : 74 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 830)
# Related Disease Score Top Affiliating Genes
1 von hippel-lindau syndrome 33.6 VHL TMEM127 SDHD SDHC SDHB SDHAF2
2 multiple endocrine neoplasia, type iia 33.6 VHL TMEM127 SDHD SDHC SDHB SDHAF2
3 extra-adrenal pheochromocytoma 33.3 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
4 paraganglioma 33.3 VHL TMEM127 SDHD SDHC SDHB SDHAF2
5 hereditary paraganglioma-pheochromocytoma syndromes 33.0 VHL TMEM127 SDHD SDHC SDHB SDHAF2
6 malignant pheochromocytoma 33.0 SDHB MAX CHGA
7 pheochromocytoma-paraganglioma 33.0 VHL TMEM127 SDHD SDHC SDHB SDHA
8 multiple endocrine neoplasia 32.9 VHL SDHD SDHC SDHB RET GDNF
9 multiple endocrine neoplasia, type iib 32.8 TMEM127 SDHD SDHB SDHAF2 RET GDNF
10 nonsyndromic paraganglioma 32.7 SDHB RET CHGA
11 neuroendocrine tumor 32.6 SDHD SDHB SDHA RET CHGB CHGA
12 adrenal carcinoma 32.5 SDHD SDHB CHGA
13 paragangliomas 4 32.5 SDHB PADI2
14 sporadic pheochromocytoma/secreting paraganglioma 32.4 VHL SDHD SDHB RET
15 neurofibromatosis 32.2 VHL SDHD SDHB RET
16 paragangliomas 1 32.1 SDHD SDHC SDHB SDHA ALG9
17 thyroid carcinoma, familial medullary 32.0 VHL RET GDNF CHGA
18 thyroid gland medullary carcinoma 31.9 RET GDNF CHGA
19 neurofibromatosis, type i 31.8 VHL TMEM127 SDHD SDHC SDHB SDHA
20 neural crest tumor 31.3 SDHD SDHC SDHB SDHAF2 SDHA
21 multiple endocrine neoplasia, type i 31.3 VHL SDHD SDHC SDHB RET CHGA
22 parathyroid adenoma 31.2 RET CHGB CHGA
23 renal cell carcinoma, nonpapillary 31.1 VHL SDHC SDHB RET LOC107303340 H19
24 neuroma 31.1 RET NGF GDNF
25 paraganglioma and gastric stromal sarcoma 30.8 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
26 carcinoid syndrome 30.8 SDHD CHGA
27 gastrointestinal stromal tumor 30.8 SDHD SDHC SDHB SDHA PADI2 CHGA
28 multiple mucosal neuroma 30.8 RET GDNF
29 neuroblastoma 30.7 RET NGF MEG3 KIF1B H19 GDNF
30 thyroid gland cancer 30.7 TMEM127 SDHD SDHB RET GDNF CHGA
31 carcinoid tumors, intestinal 30.7 CHGB CHGA
32 pituitary adenoma, prolactin-secreting 30.7 NGF CHGB CHGA
33 adrenal neuroblastoma 30.6 CHGB CHGA
34 adrenal cortical carcinoma 30.5 H19 CHGA ADM
35 gastric leiomyosarcoma 30.5 SDHD SDHC SDHB SDHAF2 SDHA
36 chondroma 30.5 SDHD SDHC SDHB SDHAF2 SDHA
37 mitochondrial complex ii deficiency, nuclear type 1 30.5 SDHD SDHC SDHB SDHAF2 SDHA
38 foster-kennedy syndrome 30.4 SDHD SDHC SDHAF2 SDHA
39 carney triad 30.4 SDHD SDHC SDHB SDHA
40 leigh syndrome 30.4 SDHD SDHC SDHB SDHAF2 SDHA
41 plethora of newborn 30.3 SDHD SDHB
42 renal cell carcinoma, papillary, 1 30.3 VHL SDHB LOC107303340
43 glucagonoma 30.3 CHGB CHGA
44 glomus tumor 30.3 SDHD SDHB CHGA ALG9
45 retinal hemangioblastoma 30.2 VHL TMEM127
46 diabetic encephalopathy 30.2 NGF GDNF
47 pituitary adenoma 30.1 MEG3 H19 CHGB CHGA
48 kidney cancer 29.8 VHL SDHB MEG3 H19
49 adrenal gland pheochromocytoma 11.8
50 propionic acidemia 11.4

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Human phenotypes related to Pheochromocytoma:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

UMLS symptoms related to Pheochromocytoma:


tremor, fever, abdominal pain, chest pain, headache

MGI Mouse Phenotypes related to Pheochromocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ADM CHGA CHGB KIF1B NGF PADI2
2 mortality/aging MP:0010768 9.83 ADM ALG9 CHGA GDNF KIF1B MAX
3 muscle MP:0005369 9.23 ADM CHGA GDNF KIF1B NGF RET

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Lenograstim Approved, Investigational Phase 3 135968-09-1
3
Ifosfamide Approved Phase 3 3778-73-2 3690
4
Doxazosin Approved Phase 3 74191-85-8 3157
5
Phenoxybenzamine Approved Phase 3 59-96-1 4768
6 Calamus Phase 3
7 Antibiotics, Antitubercular Phase 3
8
Isophosphamide mustard Phase 3 100427
9 Anti-Bacterial Agents Phase 3
10
Liposomal doxorubicin Phase 3 31703
11 Antihypertensive Agents Phase 3
12 Adrenergic alpha-1 Receptor Antagonists Phase 3
13 Adrenergic alpha-Antagonists Phase 3
14 Adrenergic Antagonists Phase 3
15 Adrenergic Agents Phase 3
16 Vasodilator Agents Phase 3
17 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
20
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
21
Carbidopa Approved Phase 2 28860-95-9 34359
22
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
23
Sodium citrate Approved, Investigational Phase 2 68-04-2
24
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
25
Tamoxifen Approved Phase 2 10540-29-1 2733526
26
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9 24083
27
nivolumab Approved Phase 1, Phase 2 946414-94-4
28
Olaparib Approved Phase 2 763113-22-0 23725625
29
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
30
Prazosin Approved Phase 2 19216-56-9 4893
31
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
32
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
33
Ramipril Approved Phase 2 87333-19-5 5362129
34
Atenolol Approved Phase 2 29122-68-7 2249
35
Labetalol Approved Phase 2 36894-69-6 3869
36
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
37
Bisoprolol Approved Phase 2 66722-44-9 2405
38
Propranolol Approved, Investigational Phase 2 525-66-6 4946
39
Pembrolizumab Approved Phase 2 1374853-91-4
40
Ipilimumab Approved Phase 2 477202-00-9
41
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
42
Lenvatinib Approved, Investigational Phase 2 417716-92-8
43
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
44
lanreotide Approved Phase 2 108736-35-2
45
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
46
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
47
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
48
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
49
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
50 Guadecitabine Investigational Phase 2 929901-49-5

Interventional clinical trials:

(show top 50) (show all 90)
# 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 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)
5 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
6 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
7 Randomized Controlled Trial of Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
8 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)
9 (131)I-Metaiodobenzylguanidine Treatment of Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
10 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
11 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
12 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
13 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
14 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
15 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
16 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
17 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
18 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
19 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
20 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
21 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
22 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
23 The Perioperative Use of Dexmedetomidine and Magnesium Sulfate Compared With Traditional Anesthetic Technique for Open Resection of Pheochromocytoma. Recruiting NCT04320589 Phase 2 Dexmedetomidine;General anesthetic
24 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
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 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 Recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
27 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
28 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
29 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
30 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
31 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Active, not recruiting NCT03008369 Phase 2 Lenvatinib
32 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
33 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
34 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) Not yet recruiting NCT04711135 Phase 2 Lutetium [177Lu] oxodotreotide/dotatate
35 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
36 A Phase II Study to Evaluate the Safety and Efficacy of RAD001 Plus Erlotinib in Patients With Well- to Moderately-Differentiated Neuroendocrine Tumors Terminated NCT00843531 Phase 2 RAD001;erlotinib
37 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
38 Clinical Trial of Sir-Spheres® in Patients With Symptomatic or Progressive Hepatic Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
39 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
40 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
41 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
42 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
43 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
44 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);[68Ga]-DOTATATE;([18F]-6F-DA)
45 A Phase I Study of [111In-DTPA-D-Phe]-Octreotide in Patients With Refractory Malignancies Expressing Somatostatin Receptors Terminated NCT00002947 Phase 1
46 A Phase I Trial of Vandetanib Combined With 131I-mIBG Radiotherapy in Patients With Neuroendocrine Tumours, Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
47 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
48 Performance of an Omics-signature in the Diagnosis and Prognosis of Endocrine and Primary Hypertension Unknown status NCT02772315
49 Influence of Surgeon-anesthesiologist Collaboration on Patient Outcomes After Pheochromocytoma Surgery Unknown status NCT03158870
50 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation: Monocentric Prospective Study Unknown status NCT02186678

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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 29 GDNF KIF1B MAX RET SDHB SDHD TMEM127 VHL

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

40
Adrenal Gland, Thyroid, Heart, Brain, Pituitary, Bone, Liver

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 16037)
# Title Authors PMID Year
1
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 54 61 6 57
20154675 2010
2
Evidence of MEN-2 in the original description of classic pheochromocytoma. 57 6 54 61
17898100 2007
3
Germ-line mutations in nonsyndromic pheochromocytoma. 61 54 6 57
12000816 2002
4
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 54 57 6 61
11156372 2000
5
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 57 6 61
21685915 2011
6
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 57 6 61
18334619 2008
7
Novel pheochromocytoma susceptibility loci identified by integrative genomics. 6 57 61
16266984 2005
8
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 54 57 6
9215674 1997
9
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 57 6 54
8592333 1995
10
Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 57 6
9663592 1998
11
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 57 54 61
20503330 2010
12
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 6 61 54
16317055 2006
13
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 6 54 61
11404820 2001
14
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 61 6 54
10522989 1999
15
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 54 61 6
7563486 1995
16
Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation. 57 61
25389632 2015
17
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. 57 61
22962301 2012
18
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. 61 57
23010473 2012
19
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 61 6
21348866 2012
20
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 54 6
18726616 2008
21
Plasma chromogranin A or urine fractionated metanephrines follow-up testing improves the diagnostic accuracy of plasma fractionated metanephrines for pheochromocytoma. 61 57
17940110 2008
22
An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges. 57 61
17102067 2006
23
Characteristic genomic imbalances in pediatric pheochromocytoma. 61 57
16518846 2006
24
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. 6 54
14685938 2004
25
A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. 61 57
12574179 2003
26
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. 6 61
12466368 2002
27
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 61 6
12414898 2002
28
The pressure rises: update on the genetics of phaeochromocytoma. 57 54
12351569 2002
29
Pheochromocytoma--death of an axiom. 61 57
12000821 2002
30
A "pheo" lurks: novel approaches for locating occult pheochromocytoma. 61 57
11502790 2001
31
Case 13-2001: genetic testing in pheochromocytoma. 57 61
11519521 2001
32
Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 61 57
10369850 1999
33
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 6 61
9506724 1998
34
Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. 57 61
9398721 1997
35
Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma. 6 54
9156047 1997
36
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 6 61
8956040 1996
37
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 54 57
8825918 1995
38
Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. 61 57
8105382 1993
39
A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome. 57 61
6306309 1982
40
Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient. 57 61
490809 1979
41
Familial pheochromocytoma: a report of 2 cases in a kindred. 57 61
458955 1979
42
One hundred cases of pheochromocytoma (107 tumors) at the Columbia-Presbyterian Medical Center, 1926-1976: a clinicopathological analysis. 61 57
922654 1977
43
Pheochromocytoma crisis induced by saralasin. Relation of angiotensin analogue to catecholamine release. 57 61
820996 1976
44
Mutation and cancer: neuroblastoma and pheochromocytoma. 61 57
4340974 1972
45
Hypercalcemia and familial pheochromocytoma. Correction after adrenalectomy. 57 61
5015920 1972
46
Further evaluation of the tyramine test for pheochromocytoma. 57 61
5638691 1968
47
[The pheochromocytoma as a dominant hereditary dysgenetic tumor]. 57 61
13886916 1962
48
[The pheochromocytoma of familial character]. 61 57
13716312 1961
49
Pancreatic Gastrinoma, Gastrointestinal Stromal Tumor (GIST), Pheochromocytoma, and Hürthle Cell Neoplasm in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review. 61 42
33452231 2021
50
Extra-adrenal pheochromocytoma with initial symptom of haemoptysis: a case report and review of literature. 61 42
33407379 2021

Variations for Pheochromocytoma

ClinVar genetic disease variations for Pheochromocytoma:

6 (show top 50) (show all 1221)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM127 NM_017849.3(TMEM127):c.410-2A>C SNV Pathogenic 107 rs121908826 2:96919855-96919855 2:96254117-96254117
2 SDHB NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) SNV Pathogenic 12786 rs74315371 1:17355216-17355216 1:17028721-17028721
3 VHL NM_000551.3(VHL):c.188T>C (p.Leu63Pro) SNV Pathogenic 2227 rs104893827 3:10183719-10183719 3:10142035-10142035
4 VHL NM_000551.3(VHL):c.277G>A (p.Gly93Ser) SNV Pathogenic 2237 rs5030808 3:10183808-10183808 3:10142124-10142124
5 SDHB NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) SNV Pathogenic 12788 rs121917755 1:17355219-17355219 1:17028724-17028724
6 VHL NM_000551.3(VHL):c.191G>C (p.Arg64Pro) SNV Pathogenic 2226 rs104893826 3:10183722-10183722 3:10142038-10142038
7 TMEM127 NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) Deletion Pathogenic 397511 rs121908816 2:96931000-96931003 2:96265262-96265265
8 TMEM127 NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) SNV Pathogenic 265271 rs886039439 2:96919799-96919799 2:96254061-96254061
9 KIF1B NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) SNV Pathogenic 4662 rs121908164 1:10425534-10425534 1:10365476-10365476
10 SDHD NM_003002.3(SDHD):c.-84_*831del Deletion Pathogenic 239459 11:111957548-111966525 11:112086824-112095801
11 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 11:111958640-111958640 11:112087916-112087916
12 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 11:111959695-111959695 11:112088971-112088971
13 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) SNV Pathogenic 6915 rs104894309 11:111957664-111957664 11:112086940-112086940
14 SDHD NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) SNV Pathogenic 6916 rs104894310 11:111957645-111957645 11:112086921-112086921
15 SDHB NM_003000.2(SDHB):c.591del (p.Ser198fs) Deletion Pathogenic 412462 rs1060503757 1:17350519-17350519 1:17024024-17024024
16 SDHB NM_003000.2(SDHB):c.725G>A (p.Arg242His) SNV Pathogenic 12781 rs74315368 1:17349143-17349143 1:17022648-17022648
17 SDHB NM_003000.3(SDHB):c.714_715CT[1] (p.Ser239fs) Microsatellite Pathogenic 12782 rs587781266 1:17349149-17349152 1:17022654-17022657
18 SDHB NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) SNV Pathogenic 12783 rs74315369 1:17371377-17371377 1:17044882-17044882
19 SDHB NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) SNV Pathogenic 12785 rs74315370 1:17371320-17371320 1:17044825-17044825
20 SDHB NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) SNV Pathogenic 12778 rs74315366 1:17359573-17359573 1:17033078-17033078
21 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 11:111958592-111958592 11:112087868-112087868
22 SDHD NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) SNV Pathogenic 239470 rs878854594 11:111965575-111965575 11:112094851-112094851
23 SDHB NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) SNV Pathogenic 239443 rs786203251 1:17349144-17349144 1:17022649-17022649
24 SDHB NM_003000.2(SDHB):c.-151_*159del Deletion Pathogenic 239419 1:17345217-17380665 1:17018722-17054170
25 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 11:111958640-111958640 11:112087916-112087916
26 SDHD NM_003002.4(SDHD):c.242del (p.Pro81fs) Deletion Pathogenic 239464 rs878854591 11:111959662-111959662 11:112088938-112088938
27 SDHB NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) SNV Pathogenic 239427 rs878854575 1:17359570-17359570 1:17033075-17033075
28 SDHB NM_003000.2(SDHB):c.72+1G>T SNV Pathogenic 142764 rs587782703 1:17380442-17380442 1:17053947-17053947
29 SDHD NM_003002.4(SDHD):c.10dup (p.Leu4fs) Duplication Pathogenic 239460 rs878854589 11:111957640-111957641 11:112086916-112086917
30 SDHD NM_003002.4(SDHD):c.173del (p.Gly58fs) Deletion Pathogenic 239461 rs878854590 11:111959593-111959593 11:112088869-112088869
31 SDHB NM_003000.2(SDHB):c.126del (p.Phe42fs) Deletion Pathogenic 239421 rs878854572 1:17371330-17371330 1:17044835-17044835
32 SDHD NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) SNV Pathogenic 412498 rs1060503770 11:111965539-111965539 11:112094815-112094815
33 SDHB NM_003000.2(SDHB):c.689G>A (p.Arg230His) SNV Pathogenic 142637 rs587782604 1:17349179-17349179 1:17022684-17022684
34 SDHB NM_003000.2(SDHB):c.374C>G (p.Ser125Ter) SNV Pathogenic 412455 rs786203506 1:17355144-17355144 1:17028649-17028649
35 SDHB NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) SNV Pathogenic 412470 rs1060503759 1:17350508-17350508 1:17024013-17024013
36 SDHB NM_003000.2(SDHB):c.441T>G (p.Tyr147Ter) SNV Pathogenic 412476 rs1060503763 1:17354343-17354343 1:17027848-17027848
37 SDHB NM_003000.2(SDHB):c.724C>T (p.Arg242Cys) SNV Pathogenic 186827 rs786203251 1:17349144-17349144 1:17022649-17022649
38 SDHD NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) SNV Pathogenic 412497 rs1060503769 11:111965529-111965529 11:112094805-112094805
39 SDHB NM_003000.2(SDHB):c.499A>T (p.Lys167Ter) SNV Pathogenic 412456 rs1060503753 1:17354285-17354285 1:17027790-17027790
40 SDHB NM_003000.2(SDHB):c.166_170del (p.Pro56fs) Deletion Pathogenic 185342 rs786202100 1:17371286-17371290 1:17044791-17044795
41 SDHB NC_000001.11:g.(?_17044761)_(17044888_?)del Deletion Pathogenic 417581 1:17371256-17371383 1:17044761-17044888
42 SDHB NM_003000.2(SDHB):c.620_621del (p.Leu207fs) Deletion Pathogenic 412454 rs1060503752 1:17350489-17350490 1:17023994-17023995
43 SDHB NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) SNV Pathogenic 230243 rs876658461 1:17350470-17350470 1:17023975-17023975
44 SDHB NM_003000.2(SDHB):c.591del (p.Ser198fs) Deletion Pathogenic 412462 rs1060503757 1:17350519-17350519 1:17024024-17024024
45 SDHB NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) SNV Pathogenic 184933 rs587782604 1:17349179-17349179 1:17022684-17022684
46 SDHD NM_003002.4(SDHD):c.1A>G (p.Met1Val) SNV Pathogenic 6911 rs104894307 11:111957632-111957632 11:112086908-112086908
47 SDHB NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) SNV Pathogenic 12783 rs74315369 1:17371377-17371377 1:17044882-17044882
48 SDHB NM_003000.2(SDHB):c.141G>A (p.Trp47Ter) SNV Pathogenic 412474 rs1060503762 1:17371315-17371315 1:17044820-17044820
49 SDHB NM_003000.2(SDHB):c.717dup (p.Leu240fs) Duplication Pathogenic 412481 rs1060503764 1:17349150-17349151 1:17022655-17022656
50 SDHB NM_003000.2(SDHB):c.286+2T>A SNV Pathogenic 140773 rs587781270 1:17359553-17359553 1:17033058-17033058

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
27 SDHB p.Leu65His VAR_054379 rs876659329
28 SDHB p.Leu65Pro VAR_054380 rs876659329
29 SDHB p.Ile127Asn VAR_054381
30 SDHB p.Arg230Cys VAR_054383 rs138996609
31 SDHD p.Pro81Leu VAR_010038 rs80338844
32 SDHD p.Asp92Tyr VAR_010039 rs80338845
33 TMEM127 p.Val90Met VAR_063595 rs121908823
34 TMEM127 p.Trp53Ser VAR_072273 rs121908818
35 TMEM127 p.Asp70Asn VAR_072274 rs121908819
36 TMEM127 p.Gly73Arg VAR_072275 rs121908820
37 TMEM127 p.Arg94Trp VAR_072276 rs121908824
38 TMEM127 p.Cys140Arg VAR_072277 rs121908827
39 TMEM127 p.Cys140Tyr VAR_072278 rs121908828
40 VHL p.Ser68Trp VAR_005675
41 VHL p.Ser80Asn VAR_005688 rs5030805
42 VHL p.Gly93Cys VAR_005703 rs5030808
43 VHL p.Gly93Ser VAR_005705 rs5030808
44 VHL p.Tyr98His VAR_005707 rs5030809
45 VHL p.Phe119Leu VAR_005728 rs155361994
46 VHL p.Phe136Cys VAR_005737 rs5030833
47 VHL p.Tyr156Cys VAR_005743 rs397516441
48 VHL p.Arg161Gln VAR_005751 rs730882035
49 VHL p.Arg161Pro VAR_005752
50 VHL p.Arg167Gln VAR_005761 rs5030821

Cosmic variations for Pheochromocytoma:

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

Copy number variations for Pheochromocytoma from CNVD:

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

Expression for Pheochromocytoma

Search GEO for disease gene expression data for Pheochromocytoma.

Pathways for Pheochromocytoma

GO Terms for Pheochromocytoma

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 VHL SDHD SDHC SDHB SDHAF2 SDHA
2 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
3 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 electron transport chain GO:0022900 9.43 SDHC SDHB SDHA
2 regulation of the force of heart contraction GO:0002026 9.4 CHGA ADM
3 respiratory electron transport chain GO:0022904 9.37 SDHB SDHA
4 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
5 enteric nervous system development GO:0048484 9.32 RET GDNF
6 succinate metabolic process GO:0006105 9.16 SDHB SDHA
7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHD SDHC SDHAF2 SDHA

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

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

Sources for Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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