PCC
MCID: PHC003
MIFTS: 71

Pheochromocytoma (PCC) malady

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

Aliases & Classifications for Pheochromocytoma

Aliases & Descriptions for Pheochromocytoma:

Name: Pheochromocytoma 54 50 66 29 13 52 41 42 69
Sporadic Pheochromocytoma/secreting Paraganglioma 50 56
Pheochromocytoma, Modifier of 54
Pheochromocytoma, Malignant 69
Chromaffin Cell Neoplasm 69
Medullary Chromaffinoma 66
Medullary Paraganglioma 66
Chromaffin Cell Tumor 66
Pheochromoblastoma 66
Pcc 66

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 171300
Orphanet 56 ORPHA276621
ICD10 via Orphanet 34 D35.0 C74.1
MeSH 42 D010673

Summaries for Pheochromocytoma

MedlinePlus : 41 pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. this can lead to high blood pressure and cause symptoms such as headaches sweating pounding of the heart being shaky being extremely pale sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (men). people with men often have other cancers and other problems involving hormones. doctors use lab tests and imaging tests to diagnose it. surgery is the most common treatment. other options include radiation therapy, chemotherapy, and targeted therapy. targeted therapy uses substances that attack cancer cells without harming normal cells. nih: national cancer institute

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

NIH Rare Diseases : 50 pheochromocytomas are rare tumors of the adrenal glands, which are located right above the kidneys. although they are usually not cancerous (benign), pheochromocytomas often 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 a feeling of anxiety. rarely, this kind of tumor occurs outside the adrenal gland, usually somewhere in the abdomen, and are called extra-adrenal pheochromocytomas or paragangliomas. pheochromocytomas can occur in certain familial genetic syndromes. last updated: 4/27/2011

OMIM : 54 Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10%... (171300) more...

UniProtKB/Swiss-Prot : 66 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 : 71 A pheochromocytoma (from Greek phaios \"dark\", chroma \"color\", kytos \"cell\", -oma \"tumor\") or... more...

Related Diseases for Pheochromocytoma

Diseases in the Pheochromocytoma family:

Kif1b-Related Pheochromocytoma Max-Related Susceptibility to Pheochromocytoma
Ret-Related Pheochromocytoma Tmem127-Related Susceptibility to Pheochromocytoma
Vhl-Related Pheochromocytoma Sporadic Pheochromocytoma

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

(show top 50) (show all 283)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 30.0 CHGA NF1 SDHA SDHB SDHC SDHD
2 aneurysm 29.9 CALCA CHGA GDNF MEN1 NF1 PNMT
3 cardiac arrest 29.7 RET SDHA SDHB SDHC SDHD TMEM127
4 mitochondrial complex ii deficiency 29.6 CHGA CHGB MEN1 SDHD SYP
5 zollinger-ellison syndrome 29.5 CHGA NF1 RET SDHA SDHB SDHC
6 hereditary paraganglioma-pheochromocytoma syndromes 12.3
7 extra-adrenal pheochromocytoma 11.9
8 adrenal gland pheochromocytoma 11.9
9 sporadic pheochromocytoma 11.8
10 vhl-related pheochromocytoma 11.8
11 pheochromocytoma-islet cell tumor syndrome 11.8
12 pheochromocytoma, childhood 11.7
13 multiple endocrine neoplasia iia 11.7
14 kif1b-related pheochromocytoma 11.7
15 max-related susceptibility to pheochromocytoma 11.7
16 ret-related pheochromocytoma 11.7
17 tmem127-related susceptibility to pheochromocytoma 11.7
18 max-related hereditary paraganglioma-pheochromocytoma syndrome 11.7
19 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 11.7
20 von hippel-lindau syndrome 11.6
21 paragangliomas 1, with or without deafness 11.5
22 multiple endocrine neoplasia iib 11.2
23 adrenal carcinoma 11.2
24 paragangliomas 4 11.1
25 acromegaly 11.1
26 propionicacidemia 11.0
27 duodenal carcinoid syndrome 10.9
28 phaeochromocytoma 10.9
29 paragangliomas 2 10.8
30 paragangliomas 3 10.8
31 nonsyndromic paraganglioma 10.7
32 appendix adenocarcinoma 10.7
33 adrenal gland disease 10.7
34 paraganglioma 10.6
35 paraganglioma and gastric stromal sarcoma 10.4 SDHB SDHC SDHD
36 glioma susceptibility 2 10.4 SDHB SDHC SDHD
37 serous surface papilloma 10.4 SDHB SDHC SDHD
38 peroneal nerve paralysis 10.4 CHGA SYP
39 main bronchus cancer 10.4 CHGA SYP VHL
40 glomangioma 10.4 SDHB SDHD SYP
41 neurofibromatosis-noonan syndrome 10.4 NF1 SDHB SDHC SDHD
42 neuropathy, congenital, with arthrogryposis multiplex 10.4 SDHA SDHB SDHC SDHD
43 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.4 SDHA SDHB SDHC SDHD
44 catastrophic antiphospholipid syndrome 10.4 RET SDHB SDHD TMEM127 VHL
45 glycogen storage disease ic 10.4 SDHA SDHB SDHC SDHD
46 acrocapitofemoral dysplasia 10.4 RET SDHB SDHD TMEM127 VHL
47 bone ameloblastoma 10.4 RET SDHB SDHD TMEM127 VHL
48 meigel disease 10.4 GDNF RET
49 medullomyoblastoma 10.4 SDHA SDHB SYP
50 thymus small cell carcinoma 10.4 CHGA SYP

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Symptoms by clinical synopsis from OMIM:

171300

Clinical features from OMIM:

171300

Human phenotypes related to Pheochromocytoma:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 proteinuria 32 HP:0000093
3 neoplasm 32 HP:0002664
4 congestive heart failure 32 HP:0001635
5 pheochromocytoma 32 HP:0002666
6 hypercalcemia 32 HP:0003072
7 cerebral hemorrhage 32 HP:0001342
8 tachycardia 32 HP:0001649
9 hemangioma 32 HP:0001028
10 congenital cataract 32 HP:0000519
11 cafe-au-lait spot 32 HP:0000957
12 renal artery stenosis 32 HP:0001920
13 episodic hypertension 32 HP:0000875
14 hypertensive retinopathy 32 HP:0001095
15 elevated urinary norepinephrine 32 HP:0003345
16 positive regitine blocking test 32 HP:0003574

UMLS symptoms related to Pheochromocytoma:


abdominal pain, chest pain, fever, headache, tremor

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 SDHD VHL NF1 RET
2 Decreased viability GR00221-A-2 9.55 RET SDHD VHL MAX NF1
3 Decreased viability GR00221-A-3 9.55 MAX
4 Decreased viability GR00221-A-4 9.55 RET SDHD NF1
5 Decreased viability GR00231-A 9.55 RET
6 Decreased viability GR00301-A 9.55 RET VHL
7 Decreased viability GR00381-A-1 9.55 SDHD
8 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Pheochromocytoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 SDHB SDHD TH VHL ADM CHGA
2 homeostasis/metabolism MP:0005376 10.17 ADM CHGA CHGB KIF1B MEN1 NF1
3 mortality/aging MP:0010768 10.13 VHL ADM CHGA GDNF KIF1B MAX
4 endocrine/exocrine gland MP:0005379 10.11 ADM CHGA CHGB GDNF MEN1 NF1
5 muscle MP:0005369 9.76 RET VHL ADM GDNF KIF1B MEN1
6 neoplasm MP:0002006 9.5 MEN1 NF1 RET SDHB SDHD TH
7 normal MP:0002873 9.28 NF1 NGF PNMT RET SDHB SDHD

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 138)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4,Phase 2 59-96-1 4768
3 Adrenergic Agents Phase 4,Phase 2
4 Neurotransmitter Agents Phase 4,Phase 2
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4,Phase 2
7 Adrenergic Antagonists Phase 4,Phase 2
8 Antihypertensive Agents Phase 4,Phase 2
9 Vasodilator Agents Phase 4,Phase 2
10
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
11
Ifosfamide Approved Phase 3 3778-73-2 3690
12
Lenograstim Approved Phase 3 135968-09-1
13
Mechlorethamine Approved Phase 3 51-75-2 4033
14
Somatostatin Approved Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
15
Doxil Approved June 1999 Phase 3,Phase 2 31703
16 3-Iodobenzylguanidine Phase 3,Phase 2,Phase 1
17 Radiopharmaceuticals Phase 3,Phase 2,Phase 1
18 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
19 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
20 Hormones Phase 2, Phase 3,Phase 1
21 Alkylating Agents Phase 3,Phase 2,Phase 1
22 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
23 Isophosphamide mustard Phase 3
24 Topoisomerase Inhibitors Phase 3,Phase 2
25 Hormone Antagonists Phase 2, Phase 3,Phase 1
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
27
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
28
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
29
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
30
Indinavir Approved Phase 2 150378-17-9 5362440
31
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
32
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
33
Carbidopa Approved Phase 2 28860-95-9 34359 38101
34
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
35
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
36
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
37
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
38
Tamoxifen Approved Phase 2 10540-29-1 2733526
39
Melphalan Approved Phase 2 148-82-3 4053 460612
40
Pancrelipase Approved Phase 2 53608-75-6
41
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
42
Dacarbazine Approved, Investigational Phase 2,Phase 1 4342-03-4 5351166
43
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
44
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
45
Lenvatinib Approved Phase 2 417716-92-8
46
nivolumab Approved Phase 2 946414-94-4
47
Pembrolizumab Approved Phase 2 1374853-91-4
48
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
49
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
50
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538

Interventional clinical trials:

(show top 50) (show all 81)
id Name Status NCT ID Phase
1 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
2 Phenoxybenzamine Versus Doxazosin in PCC Patients Recruiting NCT01379898 Phase 4
3 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3
4 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3
5 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3
6 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3
7 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3
8 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3
9 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Unknown status NCT00843531 Phase 2
10 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2
11 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2
12 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2
13 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
14 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2
15 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2
16 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2
17 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2
18 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2
19 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2
20 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2
21 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2
22 Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2
23 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
24 MIBG Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2
25 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2
26 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
27 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
28 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
29 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2
30 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2
31 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Active, not recruiting NCT01237457 Phase 2
32 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Not yet recruiting NCT03165721 Phase 2
33 Phase 2 Study of ONC201 in Neuroendocrine Tumors Not yet recruiting NCT03034200 Phase 2
34 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2
35 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2
36 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2
37 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1
38 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
39 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1
40 Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum Completed NCT00005860 Phase 1
41 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Active, not recruiting NCT00655655 Phase 1
42 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Not yet recruiting NCT02831179 Phase 1
43 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
44 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1
45 Evaluation of Plasma Catecholamine Concentration During Surgery Unknown status NCT00948181
46 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
47 Expanded Access Protocol for [123I]mIBG for Patients With Known or Suspected Neuroblastoma Approved for marketing NCT00730444
48 Specificity of Elevated Plasma EM66 Levels in Pheochromocytoma Completed NCT01022515
49 Diagnosis and Treatment of Pheochromocytoma Completed NCT00001229
50 I-123-MIBG for Imaging of Neuroblastoma and Pheochromocytoma Completed NCT00590096

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: pheochromocytoma

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

id Genetic test Affiliating Genes
1 Pheochromocytoma 29

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

39
Adrenal Gland, Testes, Heart, Thyroid, Kidney, Pituitary, Bone

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 1471)
id Title Authors Year
1
Extra-adrenal pheochromocytoma at the organ of Zuckerkandl: a case report and literature review. ( 28491185 )
2017
2
Luteolin-induced apoptosis through activation of endoplasmic reticulum stress sensors in pheochromocytoma cells. ( 28498401 )
2017
3
Recurrence of non-cardiogenic pulmonary edema and sustained hypotension shock in cystic pheochromocytoma. ( 28471119 )
2017
4
Anthracyclines suppress pheochromocytoma cell characteristics, including metastasis, through inhibition of the hypoxia signaling pathway. ( 28423608 )
2017
5
Pheochromocytoma in a Child without Hypertension: A Contribution to the "Rule of 10s". ( 28469338 )
2017
6
Novel germline variant of TMEM127 gene in a patient with familial pheochromocytoma. ( 28458909 )
2017
7
Pheochromocytoma of the Organ Zuckerkandl. ( 28414676 )
2017
8
Failure of MIBG scan to detect metastases in SDHB-mutated pediatric metastatic pheochromocytoma. ( 28409892 )
2017
9
Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India. ( 28432847 )
2017
10
Giant pheochromocytoma in type 1 neuro bromatosis patient. ( 28484203 )
2017
11
Plasma Methoxytyramine: Clinical Utility with Metanephrines for Diagnosis of Pheochromocytoma and Paraganglioma. ( 28476870 )
2017
12
Development and validation of a liquid chromatography tandem mass spectrometry method for the measurement of urinary catecholamines in diagnosis of pheochromocytoma. ( 28481409 )
2017
13
Recurrent, bilateral, and metastatic pheochromocytoma in a young patient with Beckwith-Wiedemann syndrome: A genetic link? ( 28503241 )
2017
14
Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors. ( 27865588 )
2017
15
Malignant pheochromocytoma in the anterior mediastinum with sternal invasion: a case report. ( 28449504 )
2017
16
NVP-AUY922, a novel HSP90 inhibitor, inhibits the progression of malignant pheochromocytoma in vitro and in vivo. ( 28458565 )
2017
17
Surgical Treatment of Malignant Pheochromocytoma and Paraganglioma: Retrospective Case Series. ( 28058556 )
2017
18
Pheochromocytoma Multisystem Crisis Behaving Like Interstitial Pneumonia: An Autopsy Case. ( 28090043 )
2017
19
Ultrastructure of pheochromocytoma: undescribed morphologic features. ( 28429074 )
2017
20
Absence of BRAF mutation in pheochromocytoma and paraganglioma. ( 28043156 )
2017
21
Pheochromocytoma of Urinary Bladder in a Dialysis PatientPheochromocytoma of Urinary Bladder. ( 28064451 )
2017
22
Single-stage laparoscopic adrenalectomy for pheochromocytoma and enucleation of a pancreatic neuroendocrine tumor in Von Hippel-Lindau disease: A case report. ( 28515932 )
2017
23
The Penetrance of Paraganglioma and Pheochromocytoma in SDHB germline mutation carriers. ( 28503760 )
2017
24
Raynaud's Phenomenon: Revisiting a Rare Sign of Pheochromocytoma and Paraganglioma. ( 28431994 )
2017
25
Cerebral venous thrombosis due to pheochromocytoma in a patient with Von Hippel Lindau mutation. ( 28488641 )
2017
26
Anesthetic Management of Clinically Silent Familial Pheochromocytoma with MEN 2A: A Report of Four Cases. ( 27994341 )
2016
27
Genotype-Phenotype Correlation in Indian Patients with MEN2-Associated Pheochromocytoma and Comparison of Clinico-Pathological Attributes with Apparently Sporadic Adrenal Pheochromocytoma. ( 26438242 )
2016
28
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes. ( 27867439 )
2016
29
Precision medicine in pheochromocytoma and paraganglioma: current and future concepts. ( 27165774 )
2016
30
Extracorporeal Membrane Oxygenation for Treatment of Acute Inverted Takotsubo-Like Cardiomyopathy From Hemorrhagic Pheochromocytoma in Late Pregnancy. ( 27607406 )
2016
31
Adrenal Adenoma and Pheochromocytoma: Comparison of Multidetector CT Venous Enhancement Levels and Washout Characteristics. ( 26978001 )
2016
32
Attention Deficit Hyperactivity Disorder in Pediatric Patients with Pheochromocytoma and Paraganglioma. ( 27171833 )
2016
33
Cystic Pheochromocytoma Presenting as Adrenal Cyst. ( 28050427 )
2016
34
Pheochromocytoma Is Characterized byA Catecholamine-Mediated Myocarditis, Focal and Diffuse Myocardial Fibrosis, andA Myocardial Dysfunction. ( 27199060 )
2016
35
(68)Ga-DOTATATE and (18)F-FDG PET/CT in Paraganglioma and Pheochromocytoma: utility, patterns and heterogeneity. ( 27535829 )
2016
36
Pheochromocytoma in Urologic Practice. ( 28078330 )
2016
37
Cases of remission of psychosis following resection of pheochromocytoma or paraganglioma. ( 27534680 )
2016
38
Inverted Tako-tsubo Induced by Pheochromocytoma. ( 27523607 )
2016
39
Absence of the BRAF V600E mutation in pheochromocytoma. ( 26710756 )
2016
40
Laparoscopic bilateral cortical-sparing adrenalectomy for pheochromocytoma. ( 27177950 )
2016
41
Urinary dopamine in psychotic disorders is similar to that of pheochromocytoma and paraganglioma. ( 27653463 )
2016
42
Traumatic Rupture of Extra-adrenal Pheochromocytoma. ( 27215711 )
2016
43
Composite pheochromocytoma with a malignant peripheral nerve sheath tumor: Case report and review of the literature. ( 27338175 )
2016
44
Response to commentary on: The necessary preoperative dose of alpha-blockers reflects higher tumor activity in pheochromocytoma. ( 27181384 )
2016
45
Silent genetic alterations identified by targeted next-generation sequencing in pheochromocytoma/paraganglioma: A clinicopathological correlations. ( 27986441 )
2016
46
Pheochromocytoma after Cesarean Section. ( 27076898 )
2016
47
Resection of Pheochromocytoma Improves Diabetes Mellitus in the Majority of Patients. ( 27896511 )
2016
48
A rare case of Ganglioneuroblastoma Encapsulated in Pheochromocytoma. ( 27526309 )
2016
49
Expression of Extracellular Signal-regulated Kinase 5 and Ankyrin Repeat Domain 1 in Composite Pheochromocytoma and Ganglioneuroblastoma Detected Incidentally in the Adult Adrenal Gland. ( 27980262 )
2016
50
Stressing the Importance of Cardiac Assessment in Pheochromocytoma. ( 27199061 )
2016

Variations for Pheochromocytoma

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

66 (show top 50) (show all 52)
id Symbol AA change Variation ID SNP ID
1 RET p.Cys634Gly VAR_006323 rs75076352
2 RET p.Cys634Phe VAR_006324 rs75996173
3 RET p.Cys634Tyr VAR_006325 rs75996173
4 RET p.Cys634Arg VAR_006326 rs75076352
5 RET p.Cys634Ser VAR_006327 rs75076352
6 RET p.Cys634Trp VAR_006328 rs77709286
7 RET p.Tyr791Phe VAR_009483 rs77724903
8 SDHB p.Arg242His VAR_017869 rs74315368
9 SDHB p.Leu87Ser VAR_018517 rs727504457
10 SDHB p.Arg46Gly VAR_035064 rs74315370
11 SDHB p.Cys101Tyr VAR_035065 rs74315371
12 SDHB p.Cys192Arg VAR_035066 rs786202732
13 SDHB p.Cys196Tyr VAR_035067
14 SDHB p.Ser100Phe VAR_037620 rs121917755
15 SDHB p.Ala43Pro VAR_054376
16 SDHB p.Arg46Gln VAR_054377 rs772551056
17 SDHB p.Gly53Arg VAR_054378
18 SDHB p.Leu65His VAR_054379
19 SDHB p.Leu65Pro VAR_054380
20 SDHB p.Ile127Asn VAR_054381
21 SDHB p.Arg230Cys VAR_054383 rs138996609
22 SDHD p.Pro81Leu VAR_010038 rs80338844
23 SDHD p.Asp92Tyr VAR_010039 rs80338845
24 TMEM127 p.Val90Met VAR_063595 rs121908823
25 TMEM127 p.Trp53Ser VAR_072273 rs121908818
26 TMEM127 p.Asp70Asn VAR_072274 rs121908819
27 TMEM127 p.Gly73Arg VAR_072275 rs121908820
28 TMEM127 p.Arg94Trp VAR_072276 rs121908824
29 TMEM127 p.Cys140Arg VAR_072277 rs121908827
30 TMEM127 p.Cys140Tyr VAR_072278 rs121908828
31 VHL p.Ser68Trp VAR_005675
32 VHL p.Ser80Asn VAR_005688 rs5030805
33 VHL p.Gly93Cys VAR_005703 rs5030808
34 VHL p.Gly93Ser VAR_005705 rs5030808
35 VHL p.Tyr98His VAR_005707 rs5030809
36 VHL p.Phe119Leu VAR_005728
37 VHL p.Phe136Cys VAR_005737 rs5030833
38 VHL p.Tyr156Cys VAR_005743 rs397516441
39 VHL p.Arg161Gln VAR_005751 rs730882035
40 VHL p.Arg161Pro VAR_005752
41 VHL p.Arg167Gln VAR_005761 rs5030821
42 VHL p.Arg167Trp VAR_005762 rs5030820
43 VHL p.Leu188Val VAR_005777 rs5030824
44 VHL p.Pro25Leu VAR_034562 rs35460768
45 VHL p.Leu63Pro VAR_034987 rs104893827
46 VHL p.Arg64Pro VAR_034988 rs104893826
47 VHL p.Ser65Ala VAR_034989 rs869025616
48 VHL p.Arg107Gly VAR_034991 rs397516440
49 VHL p.Ala122Ile VAR_034993
50 VHL p.Ile147Thr VAR_034996

ClinVar genetic disease variations for Pheochromocytoma:

6 (show top 50) (show all 97)
id Gene Variation Type Significance SNP ID Assembly Location
1 TMEM127 NM_017849.3(TMEM127): c.410-2A> C single nucleotide variant Likely pathogenic,risk factor rs121908826 GRCh37 Chromosome 2, 96919855: 96919855
2 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121908830 GRCh37 Chromosome 2, 96919788: 96919788
3 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 GRCh37 Chromosome 2, 96920736: 96920736
4 TMEM127 NM_017849.3(TMEM127): c.149dupA (p.Pro51Alafs) duplication Likely pathogenic,risk factor rs121908817 GRCh37 Chromosome 2, 96930971: 96930971
5 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic/Likely pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
6 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
7 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Pathogenic rs104893827 GRCh37 Chromosome 3, 10183719: 10183719
8 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
9 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
10 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
11 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
12 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
13 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
14 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
15 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh37 Chromosome 11, 111957664: 111957664
16 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh37 Chromosome 11, 111957645: 111957645
17 GDNF NM_000514.3(GDNF): c.277C> T (p.Arg93Trp) single nucleotide variant risk factor rs36119840 GRCh37 Chromosome 5, 37816112: 37816112
18 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
19 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
20 SDHB SDHB, 1-BP DEL, 725C deletion Pathogenic
21 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
22 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
23 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
24 SDHB NM_003000.2(SDHB): c.136C> G (p.Arg46Gly) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
25 SDHB NM_003000.2(SDHB): c.302G> A (p.Cys101Tyr) single nucleotide variant Pathogenic rs74315371 GRCh37 Chromosome 1, 17355216: 17355216
26 SDHB NM_003000.2(SDHB): c.299C> T (p.Ser100Phe) single nucleotide variant Pathogenic rs121917755 GRCh37 Chromosome 1, 17355219: 17355219
27 RET NM_020975.4(RET): c.1900T> G (p.Cys634Gly) single nucleotide variant Pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
28 RET NM_020975.4(RET): c.1901G> A (p.Cys634Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
29 RET NM_020630.4(RET): c.1901G> C (p.Cys634Ser) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
30 RET NM_020630.4(RET): c.1901G> T (p.Cys634Phe) single nucleotide variant Pathogenic rs75996173 GRCh37 Chromosome 10, 43609949: 43609949
31 RET NM_020975.4(RET): c.1900T> C (p.Cys634Arg) single nucleotide variant Pathogenic/Likely pathogenic rs75076352 GRCh37 Chromosome 10, 43609948: 43609948
32 RET NM_020630.4(RET): c.1902C> G (p.Cys634Trp) single nucleotide variant Pathogenic/Likely pathogenic rs77709286 GRCh37 Chromosome 10, 43609950: 43609950
33 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
34 RET NM_020975.4(RET): c.*1969T> C single nucleotide variant protective rs3026785 GRCh37 Chromosome 10, 43625686: 43625686
35 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
36 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic,risk factor rs387906650 GRCh37 Chromosome 14, 65544703: 65544703
37 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
38 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
39 TMEM127 NM_017849.3(TMEM127): c.-18C> T single nucleotide variant Likely pathogenic rs121908813 GRCh37 Chromosome 2, 96931137: 96931137
40 TMEM127 NM_017849.3(TMEM127): c.158G> C (p.Trp53Ser) single nucleotide variant Likely pathogenic rs121908818 GRCh37 Chromosome 2, 96930962: 96930962
41 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh37 Chromosome 2, 96920712: 96920715
42 TMEM127 NM_017849.3(TMEM127): c.3G> T (p.Met1Ile) single nucleotide variant Likely pathogenic rs121908814 GRCh37 Chromosome 2, 96931117: 96931117
43 TMEM127 NM_017849.3(TMEM127): c.409+1G> T single nucleotide variant Likely pathogenic rs121908825 GRCh37 Chromosome 2, 96920570: 96920570
44 TMEM127 NM_017849.3(TMEM127): c.418T> C (p.Cys140Arg) single nucleotide variant Likely pathogenic rs121908827 GRCh37 Chromosome 2, 96919845: 96919845
45 TMEM127 NM_017849.3(TMEM127): c.419G> A (p.Cys140Tyr) single nucleotide variant Likely pathogenic rs121908828 GRCh37 Chromosome 2, 96919844: 96919844
46 TMEM127 NM_017849.3(TMEM127): c.447G> A (p.Trp149Ter) single nucleotide variant Likely pathogenic rs121908829 GRCh37 Chromosome 2, 96919816: 96919816
47 TMEM127 NM_017849.3(TMEM127): c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs) duplication Likely pathogenic rs121908831 GRCh37 Chromosome 2, 96919623: 96919636
48 TMEM127 NM_017849.3(TMEM127): c.76C> T (p.Gln26Ter) single nucleotide variant Likely pathogenic rs121908815 GRCh37 Chromosome 2, 96931044: 96931044
49 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
50 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179

Cosmic variations for Pheochromocytoma:

9 (show top 50) (show all 86)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 19
2 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 19
3 COSM14311 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.499C>T p.R167W 19
4 COSM17666 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.593T>C p.L198P 19
5 COSM24441 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.3721C>T p.R1241* 19
6 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 19
7 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 19
8 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 19
9 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 19
10 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 19
11 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 19
12 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 19
13 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 19
14 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 19
15 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 19
16 COSM329087 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.4558C>T p.Q1520* 19
17 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 19
18 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 19
19 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 19
20 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 19
21 COSM27887 GNAS adrenal gland,extraadrenal,pheochromocytoma,NS c.601C>T p.R201C 15
22 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 3
23 COSM965 RET thyroid,NS,carcinoma,medullary carcinoma c.2753T>C p.M918T 3
24 COSM29806 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>G p.C630G 3
25 COSM29805 RET thyroid,NS,carcinoma,medullary carcinoma c.1859G>C p.C620S 3
26 COSM966 RET thyroid,NS,carcinoma,medullary carcinoma c.1900T>C p.C634R 3
27 COSM29803 RET thyroid,NS,carcinoma,medullary carcinoma c.1852T>C p.C618R 3
28 COSM3437784 RET thyroid,NS,carcinoma,medullary carcinoma c.2206G>A p.G736R 3
29 COSM974 RET thyroid,NS,carcinoma,medullary carcinoma c.1901G>A p.C634Y 3
30 COSM133167 RET thyroid,NS,carcinoma,medullary carcinoma c.2647G>T p.A883S 3
31 COSM975 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>G p.C634W 3
32 COSM4170226 RET thyroid,NS,carcinoma,medullary carcinoma c.1946C>T p.S649L 3
33 COSM21338 RET thyroid,NS,carcinoma,medullary carcinoma c.2304G>C p.E768D 3
34 COSM963 RET thyroid,NS,carcinoma,medullary carcinoma c.2701G>A p.E901K 3
35 COSM249792 RET thyroid,NS,carcinoma,medullary carcinoma c.2041C>T p.Q681* 3
36 COSM5598719 RET thyroid,NS,carcinoma,medullary carcinoma c.2137G>A p.E713K 3
37 COSM960 RET thyroid,NS,carcinoma,medullary carcinoma c.2650G>A p.E884K 3
38 COSM959 RET thyroid,NS,carcinoma,medullary carcinoma c.2627C>T p.A876V 3
39 COSM961 RET thyroid,NS,carcinoma,medullary carcinoma c.2723G>A p.R908K 3
40 COSM20889 RET thyroid,NS,carcinoma,medullary carcinoma c.2761G>A p.E921K 3
41 COSM964 RET thyroid,NS,carcinoma,medullary carcinoma c.1888T>C p.C630R 3
42 COSM29804 RET thyroid,NS,carcinoma,medullary carcinoma c.1858T>C p.C620R 3
43 COSM971 RET thyroid,NS,carcinoma,medullary carcinoma c.2296C>T p.P766S 3
44 COSM249789 RET thyroid,NS,carcinoma,medullary carcinoma c.2117T>C p.V706A 3
45 COSM980 RET thyroid,NS,carcinoma,medullary carcinoma c.1853G>A p.C618Y 3
46 COSM958 RET thyroid,NS,carcinoma,medullary carcinoma c.2242G>T p.G748C 3
47 COSM918118 RET thyroid,NS,carcinoma,medullary carcinoma c.2038G>A p.A680T 3
48 COSM249791 RET thyroid,NS,carcinoma,medullary carcinoma c.1843G>A p.E615K 3
49 COSM20888 RET thyroid,NS,carcinoma,medullary carcinoma c.2732G>A p.G911D 3
50 COSM29807 RET thyroid,NS,carcinoma,medullary carcinoma c.1902C>T p.C634C 3

Copy number variations for Pheochromocytoma from CNVD:

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

Expression for Pheochromocytoma

Search GEO for disease gene expression data for Pheochromocytoma.

Pathways for Pheochromocytoma

GO Terms for Pheochromocytoma

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

id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.56 CALCA NF1 RET TH
2 terminal bouton GO:0043195 9.33 CALCA SYP TH
3 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.8 GDNF MEN1 NF1 RET
2 negative regulation of cell proliferation GO:0008285 9.72 ADM MEN1 NF1 TMEM127 VHL
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.52 NF1 SYP
4 sympathetic nervous system development GO:0048485 9.51 GDNF NF1
5 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.48 NF1 RET
6 positive regulation of adenylate cyclase activity GO:0045762 9.46 CALCA NF1
7 G-protein coupled receptor internalization GO:0002031 9.43 ADM CALCA
8 enteric nervous system development GO:0048484 9.4 GDNF RET
9 succinate metabolic process GO:0006105 9.37 SDHA SDHB
10 catecholamine biosynthetic process GO:0042423 9.26 PNMT TH
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.16 SDHA SDHD
12 epinephrine biosynthetic process GO:0042418 8.96 PNMT TH
13 tricarboxylic acid cycle GO:0006099 8.92 SDHA SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 ADM CALCA CHGB
2 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
3 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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