PCC
MCID: PHC003
MIFTS: 70

Pheochromocytoma (PCC)

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

Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 57 12 73 20 72 29 13 54 6 42 44 15 39 70
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 70
Adrenal Gland Chromaffinoma 20
Adrenal Gland Paraganglioma 20
Intraadrenal Paraganglioma 20
Chromaffin Cell Neoplasm 70
Medullary Chromaffinoma 72
Medullary Paraganglioma 72
Chromaffin Cell Tumor 72
Pheochromoblastoma 72
Phaeochromocytoma 12
Pheochromocytomas 15
Pcc 72

Characteristics:

OMIM®:

57 (Updated 20-May-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 hereditary paraganglioma-pheochromocytoma syndromes 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 20-May-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 : 72 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 : 73 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 855)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 33.9 VHL TMEM127 SDHD SDHC SDHB SDHAF2
2 multiple endocrine neoplasia, type iia 33.5 VHL TMEM127 SDHD SDHC SDHB SDHAF2
3 von hippel-lindau syndrome 33.5 VHL TMEM127 SDHD SDHC SDHB SDHAF2
4 extra-adrenal pheochromocytoma 33.3 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
5 paraganglioma 33.3 VHL TMEM127 SDHD SDHC SDHB SDHAF2
6 malignant pheochromocytoma 33.1 VHL 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 NF1
9 multiple endocrine neoplasia, type iib 32.9 TMEM127 SDHD SDHB SDHAF2 RET NF1
10 nonsyndromic paraganglioma 32.7 SDHB RET CHGA
11 paragangliomas 1 32.5 SDHD SDHC SDHB SDHA
12 adrenal carcinoma 32.5 SDHD SDHB CHGA
13 sporadic pheochromocytoma/secreting paraganglioma 32.4 VHL SDHD SDHB RET
14 neurofibromatosis 32.2 VHL SDHD SDHB RET NF1
15 thyroid carcinoma, familial medullary 32.0 VHL RET GDNF CHGA
16 thyroid gland medullary carcinoma 31.9 RET GDNF CHGA
17 neuroendocrine tumor 31.9 SDHD SDHB SDHA RET CHGB CHGA
18 neurofibromatosis, type i 31.7 VHL TMEM127 SDHD SDHC SDHB RET
19 gastrointestinal stromal tumor 31.7 SDHD SDHC SDHB SDHA NF1 CHGA
20 renal cell carcinoma, nonpapillary 31.5 VHL SDHC SDHB RET LOC107303340 H19
21 paraganglioma and gastric stromal sarcoma 31.5 TMEM127 SDHD SDHC SDHB SDHAF2 SDHA
22 neuroblastoma 31.4 SDHB RET NGF NF1 MEG3 KIF1B
23 cowden syndrome 31.3 SDHD SDHC SDHB RET NF1
24 neural crest tumor 31.3 SDHD SDHC SDHB SDHAF2 SDHA
25 multiple endocrine neoplasia, type i 31.2 VHL SDHD SDHC SDHB RET NF1
26 mitochondrial complex ii deficiency, nuclear type 1 31.2 SDHD SDHC SDHB SDHAF2 SDHA
27 parathyroid adenoma 31.2 RET CHGB CHGA
28 neuroma 31.1 RET NGF NF1 GDNF
29 adrenal cortical carcinoma 31.0 H19 CHGA ADM
30 carcinoid syndrome 30.8 SDHD CHGA
31 angiomatosis 30.8 VHL LOC107303340
32 cowden syndrome 1 30.8 SDHD SDHB NF1
33 multiple mucosal neuroma 30.8 RET GDNF
34 pituitary adenoma 30.7 MEG3 H19 CHGB CHGA
35 thyroid gland cancer 30.7 TMEM127 SDHD SDHB RET GDNF CHGA
36 carcinoid tumors, intestinal 30.7 CHGB CHGA
37 pituitary adenoma, prolactin-secreting 30.7 NGF CHGB CHGA
38 adrenal neuroblastoma 30.6 CHGB CHGA
39 chondroma 30.5 SDHD SDHC SDHB SDHAF2 SDHA NF1
40 gastric leiomyosarcoma 30.5 SDHD SDHC SDHB SDHAF2 SDHA
41 kidney cancer 30.5 VHL SDHC SDHB MEG3 H19
42 foster-kennedy syndrome 30.4 SDHD SDHC SDHAF2 SDHA
43 carney triad 30.4 SDHD SDHC SDHB SDHA
44 retinal hemangioblastoma 30.4 VHL TMEM127 LOC107303340
45 leigh syndrome 30.4 SDHD SDHC SDHB SDHAF2 SDHA
46 meningioma, familial 30.3 RET NF1 MEG3 H19
47 plethora of newborn 30.3 SDHD SDHB
48 rhabdomyosarcoma 30.3 SDHC SDHA NF1 H19 CHGA
49 glucagonoma 30.3 CHGB CHGA
50 diabetic encephalopathy 30.2 NGF GDNF

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 20-May-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 20-May-2021)

UMLS symptoms related to Pheochromocytoma:


tremor; fever; abdominal pain; chest pain; headache

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.66 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.66 MAX
4 Decreased viability GR00221-A-4 9.66 NF1 RET SDHD
5 Decreased viability 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 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Pheochromocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ADM CHGA CHGB KIF1B NF1 NGF
2 mortality/aging MP:0010768 10 ADM CHGA GDNF KIF1B MAX NF1
3 endocrine/exocrine gland MP:0005379 9.97 ADM CHGA CHGB GDNF NF1 RET
4 muscle MP:0005369 9.61 ADM CHGA GDNF KIF1B NF1 NGF
5 neoplasm MP:0002006 9.1 NF1 RET SDHB SDHC SDHD VHL

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 157)
# 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 Alkylating Agents Phase 3
7 Calamus Phase 3
8 Anti-Bacterial Agents Phase 3
9 Antibiotics, Antitubercular Phase 3
10
Liposomal doxorubicin Phase 3 31703
11
Isophosphamide mustard Phase 3 100427
12 Antihypertensive Agents Phase 3
13 Adrenergic Antagonists Phase 3
14 Adrenergic Agents Phase 3
15 Vasodilator Agents Phase 3
16 Adrenergic alpha-Antagonists Phase 3
17 Adrenergic alpha-1 Receptor Antagonists Phase 3
18
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
20
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
21
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
22
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
23
Carbidopa Approved Phase 2 28860-95-9 34359
24
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
25
Sodium citrate Approved, Investigational Phase 2 68-04-2
26
Tamoxifen Approved Phase 2 10540-29-1 2733526
27
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9 24083
28
nivolumab Approved Phase 1, Phase 2 946414-94-4
29
Olaparib Approved Phase 2 763113-22-0 23725625
30
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
31
Prazosin Approved Phase 2 19216-56-9 4893
32
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
33
Ramipril Approved Phase 2 87333-19-5 5362129
34
Labetalol Approved Phase 2 36894-69-6 3869
35
Atenolol Approved Phase 2 29122-68-7 2249
36
Bisoprolol Approved Phase 2 66722-44-9 2405
37
Propranolol Approved, Investigational Phase 2 525-66-6 4946
38
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
39
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
40
Ipilimumab Approved Phase 2 477202-00-9
41
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
42
Pembrolizumab Approved Phase 2 1374853-91-4
43
Lenvatinib Approved, Investigational Phase 2 417716-92-8
44
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
45
lanreotide Approved Phase 2 108736-35-2
46
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
47
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
48
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
49
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
50
Lysine Approved, Nutraceutical Phase 2 56-87-1 5962

Interventional clinical trials:

(show top 50) (show all 92)
# 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 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
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 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
9 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
10 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
11 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)
12 (131)I-Metaiodobenzylguanidine Treatment of Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
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 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
15 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)
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 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
23 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
24 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
25 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
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 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
28 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
29 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
30 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
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 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
35 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
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 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
42 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
43 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
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 70 / 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, Kidney, Bone

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 16233)
# Title Authors PMID Year
1
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 61 57 54 6
20503330 2010
2
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 61 54 6 57
20154675 2010
3
Evidence of MEN-2 in the original description of classic pheochromocytoma. 57 6 54 61
17898100 2007
4
Germ-line mutations in nonsyndromic pheochromocytoma. 54 57 6 61
12000816 2002
5
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 54 57 6 61
11156372 2000
6
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. 61 6 57
21685915 2011
7
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 6 57 61
18334619 2008
8
Novel pheochromocytoma susceptibility loci identified by integrative genomics. 57 6 61
16266984 2005
9
Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 6 57 54
9215674 1997
10
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 6 57 54
8592333 1995
11
Germline mutations in the vhl gene in patients presenting with phaeochromocytomas. 6 57
9663592 1998
12
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 6 54 61
19802898 2010
13
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. 61 54 6
19215943 2009
14
Penetrance and clinical consequences of a gross SDHB deletion in a large family. 6 61 54
19389109 2009
15
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 61 6 54
19411806 2009
16
Germline SDHB mutations and familial renal cell carcinoma. 61 54 6
18728283 2008
17
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. 61 6 54
18551016 2008
18
R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis. 61 54 6
18362451 2008
19
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 61 6 54
18211978 2008
20
Molecular characterisation of a common SDHB deletion in paraganglioma patients. 54 61 6
18057081 2008
21
Relapsing pheochromocytoma in a Chinese women caused by a novel mutation in exon 6 of the SDHB gene: a case report. 54 61 6
17943698 2007
22
Novel SDHD germ-line mutations in pheochromocytoma patients. 6 54 61
17576205 2007
23
Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas. 6 61 54
17308434 2007
24
Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. 6 61 54
17102086 2006
25
Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 61 6 54
17102082 2006
26
The occurrence of SDHB gene mutations in pheochromocytoma. 61 54 6
17102084 2006
27
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 6 54 61
16317055 2006
28
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. 54 6 61
16405730 2006
29
A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene. 61 54 6
15476441 2004
30
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. 61 6 54
11404820 2001
31
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. 54 61 6
10522989 1999
32
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 54 6 61
7563486 1995
33
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 61 6
30050099 2019
34
The phenotype of SDHB germline mutation carriers: a nationwide study. 6 61
28490599 2017
35
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. 6 61
28738844 2017
36
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling. 6 61
27604842 2017
37
Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome. 61 6
26960314 2016
38
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 6 61
27539324 2016
39
Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation. 6 61
27549546 2016
40
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 6 61
27279923 2016
41
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 6 61
26269449 2015
42
Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 61 6
26259135 2015
43
Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. 6 61
26267327 2015
44
Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma. 61 6
25873086 2015
45
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 6 61
25720320 2015
46
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 61 6
25695889 2015
47
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 6 61
25494863 2015
48
Mutations seen among patients with pheochromocytoma and paraganglioma at a referral center from India. 6 61
24977658 2015
49
Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation. 61 57
25389632 2015
50
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 6 61
25405498 2015

Variations for Pheochromocytoma

ClinVar genetic disease variations for Pheochromocytoma:

6 (show top 50) (show all 1306)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMEM127 NM_017849.3(TMEM127):c.410-2A>C SNV Pathogenic 107 rs121908826 GRCh37: 2:96919855-96919855
GRCh38: 2:96254117-96254117
2 SDHB NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) SNV Pathogenic 12786 rs74315371 GRCh37: 1:17355216-17355216
GRCh38: 1:17028721-17028721
3 SDHB NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) SNV Pathogenic 12788 rs121917755 GRCh37: 1:17355219-17355219
GRCh38: 1:17028724-17028724
4 KIF1B NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) SNV Pathogenic 4662 rs121908164 GRCh37: 1:10425534-10425534
GRCh38: 1:10365476-10365476
5 SDHD NM_003002.3(SDHD):c.-84_*831del Deletion Pathogenic 239459 GRCh37: 11:111957548-111966525
GRCh38: 11:112086824-112095801
6 SDHD NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) SNV Pathogenic 6916 rs104894310 GRCh37: 11:111957645-111957645
GRCh38: 11:112086921-112086921
7 SDHD NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) SNV Pathogenic 412497 rs1060503769 GRCh37: 11:111965529-111965529
GRCh38: 11:112094805-112094805
8 VHL NM_000551.3(VHL):c.188T>C (p.Leu63Pro) SNV Pathogenic 2227 rs104893827 GRCh37: 3:10183719-10183719
GRCh38: 3:10142035-10142035
9 VHL NM_000551.3(VHL):c.277G>A (p.Gly93Ser) SNV Pathogenic 2237 rs5030808 GRCh37: 3:10183808-10183808
GRCh38: 3:10142124-10142124
10 TMEM127 NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) Deletion Pathogenic 397511 rs121908816 GRCh37: 2:96931000-96931003
GRCh38: 2:96265262-96265265
11 TMEM127 NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) SNV Pathogenic 265271 rs886039439 GRCh37: 2:96919799-96919799
GRCh38: 2:96254061-96254061
12 VHL NM_000551.3(VHL):c.191G>C (p.Arg64Pro) SNV Pathogenic 2226 rs104893826 GRCh37: 3:10183722-10183722
GRCh38: 3:10142038-10142038
13 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
14 SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 GRCh37: 11:111959663-111959663
GRCh38: 11:112088939-112088939
15 SDHD NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) SNV Pathogenic 6897 rs80338845 GRCh37: 11:111959695-111959695
GRCh38: 11:112088971-112088971
16 SDHD NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) SNV Pathogenic 6915 rs104894309 GRCh37: 11:111957664-111957664
GRCh38: 11:112086940-112086940
17 SDHB NM_003000.2(SDHB):c.591del (p.Ser198fs) Deletion Pathogenic 412462 rs1060503757 GRCh37: 1:17350519-17350519
GRCh38: 1:17024024-17024024
18 SDHB NM_003000.2(SDHB):c.725G>A (p.Arg242His) SNV Pathogenic 12781 rs74315368 GRCh37: 1:17349143-17349143
GRCh38: 1:17022648-17022648
19 SDHB NM_003000.3(SDHB):c.714_715CT[1] (p.Ser239fs) Microsatellite Pathogenic 12782 rs587781266 GRCh37: 1:17349149-17349152
GRCh38: 1:17022654-17022657
20 SDHB NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) SNV Pathogenic 12783 rs74315369 GRCh37: 1:17371377-17371377
GRCh38: 1:17044882-17044882
21 SDHB NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) SNV Pathogenic 12785 rs74315370 GRCh37: 1:17371320-17371320
GRCh38: 1:17044825-17044825
22 RET NM_020975.6(RET):c.1900T>G (p.Cys634Gly) SNV Pathogenic 13908 rs75076352 GRCh37: 10:43609948-43609948
GRCh38: 10:43114500-43114500
23 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe) SNV Pathogenic 13911 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
24 SDHB NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) SNV Pathogenic 12778 rs74315366 GRCh37: 1:17359573-17359573
GRCh38: 1:17033078-17033078
25 RET NM_020975.6(RET):c.1901G>C (p.Cys634Ser) SNV Pathogenic 13910 rs75996173 GRCh37: 10:43609949-43609949
GRCh38: 10:43114501-43114501
26 SDHD NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) SNV Pathogenic 6903 rs104894306 GRCh37: 11:111958592-111958592
GRCh38: 11:112087868-112087868
27 SDHD NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) SNV Pathogenic 239470 rs878854594 GRCh37: 11:111965575-111965575
GRCh38: 11:112094851-112094851
28 SDHB NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) SNV Pathogenic 239443 rs786203251 GRCh37: 1:17349144-17349144
GRCh38: 1:17022649-17022649
29 SDHB NM_003000.2(SDHB):c.-151_*159del Deletion Pathogenic 239419 GRCh37: 1:17345217-17380665
GRCh38: 1:17018722-17054170
30 SDHD NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) SNV Pathogenic 6893 rs80338843 GRCh37: 11:111958640-111958640
GRCh38: 11:112087916-112087916
31 SDHD NM_003002.4(SDHD):c.242del (p.Pro81fs) Deletion Pathogenic 239464 rs878854591 GRCh37: 11:111959662-111959662
GRCh38: 11:112088938-112088938
32 SDHB NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) SNV Pathogenic 239427 rs878854575 GRCh37: 1:17359570-17359570
GRCh38: 1:17033075-17033075
33 SDHB NM_003000.2(SDHB):c.72+1G>T SNV Pathogenic 142764 rs587782703 GRCh37: 1:17380442-17380442
GRCh38: 1:17053947-17053947
34 SDHD NM_003002.4(SDHD):c.10dup (p.Leu4fs) Duplication Pathogenic 239460 rs878854589 GRCh37: 11:111957640-111957641
GRCh38: 11:112086916-112086917
35 SDHD NM_003002.4(SDHD):c.173del (p.Gly58fs) Deletion Pathogenic 239461 rs878854590 GRCh37: 11:111959593-111959593
GRCh38: 11:112088869-112088869
36 SDHB NM_003000.2(SDHB):c.126del (p.Phe42fs) Deletion Pathogenic 239421 rs878854572 GRCh37: 1:17371330-17371330
GRCh38: 1:17044835-17044835
37 SDHD NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) SNV Pathogenic 412498 rs1060503770 GRCh37: 11:111965539-111965539
GRCh38: 11:112094815-112094815
38 SDHB NM_003000.2(SDHB):c.374C>G (p.Ser125Ter) SNV Pathogenic 412455 rs786203506 GRCh37: 1:17355144-17355144
GRCh38: 1:17028649-17028649
39 SDHB NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) SNV Pathogenic 412470 rs1060503759 GRCh37: 1:17350508-17350508
GRCh38: 1:17024013-17024013
40 SDHB NM_003000.2(SDHB):c.689G>A (p.Arg230His) SNV Pathogenic 142637 rs587782604 GRCh37: 1:17349179-17349179
GRCh38: 1:17022684-17022684
41 SDHB NM_003000.2(SDHB):c.441T>G (p.Tyr147Ter) SNV Pathogenic 412476 rs1060503763 GRCh37: 1:17354343-17354343
GRCh38: 1:17027848-17027848
42 SDHB NM_003000.2(SDHB):c.724C>T (p.Arg242Cys) SNV Pathogenic 186827 rs786203251 GRCh37: 1:17349144-17349144
GRCh38: 1:17022649-17022649
43 SDHB NM_003000.2(SDHB):c.499A>T (p.Lys167Ter) SNV Pathogenic 412456 rs1060503753 GRCh37: 1:17354285-17354285
GRCh38: 1:17027790-17027790
44 SDHB NM_003000.3(SDHB):c.600G>T SNV Pathogenic 183747 rs397516836 GRCh37: 1:17350510-17350510
GRCh38: 1:17024015-17024015
45 SDHB NM_003000.3(SDHB):c.380T>G SNV Pathogenic 183814 rs786201095 GRCh37: 1:17355138-17355138
GRCh38: 1:17028643-17028643
46 SDHB NM_003000.2(SDHB):c.166_170del (p.Pro56fs) Deletion Pathogenic 185342 rs786202100 GRCh37: 1:17371286-17371290
GRCh38: 1:17044791-17044795
47 SDHB NC_000001.11:g.(?_17044761)_(17044888_?)del Deletion Pathogenic 417581 GRCh37: 1:17371256-17371383
GRCh38: 1:17044761-17044888
48 SDHB NM_003000.2(SDHB):c.620_621del (p.Leu207fs) Deletion Pathogenic 412454 rs1060503752 GRCh37: 1:17350489-17350490
GRCh38: 1:17023994-17023995
49 SDHB NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) SNV Pathogenic 230243 rs876658461 GRCh37: 1:17350470-17350470
GRCh38: 1:17023975-17023975
50 SDHB NM_003000.2(SDHB):c.591del (p.Ser198fs) Deletion Pathogenic 412462 rs1060503757 GRCh37: 1:17350519-17350519
GRCh38: 1:17024024-17024024

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

72 (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 9.8 VHL SDHD SDHC SDHB SDHAF2 SDHA
2 dendrite GO:0030425 9.55 RET NGF NF1 MAX KIF1B
3 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
4 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 negative regulation of cell proliferation GO:0008285 9.72 VHL TMEM127 NGF NF1 ADM
2 electron transport chain GO:0022900 9.54 SDHC SDHB SDHA
3 regulation of the force of heart contraction GO:0002026 9.48 CHGA ADM
4 respiratory electron transport chain GO:0022904 9.46 SDHB SDHA
5 sympathetic nervous system development GO:0048485 9.43 NF1 GDNF
6 enteric nervous system development GO:0048484 9.4 RET GDNF
7 tricarboxylic acid cycle GO:0006099 9.35 SDHD SDHC SDHB SDHAF2 SDHA
8 peripheral nervous system development GO:0007422 9.33 NGF NF1 GDNF
9 succinate metabolic process GO:0006105 9.26 SDHB SDHA
10 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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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