MCID: PHC003
MIFTS: 73

Pheochromocytoma

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

Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 57 76 53 75 29 13 55 6 43 44 40 73
Sporadic Pheochromocytoma/secreting Paraganglioma 53 59
Pheochromocytoma, Susceptibility to 57 6
Pheochromocytoma, Modifier of 57 6
Pheochromocytoma, Malignant 73
Chromaffin Cell Neoplasm 73
Medullary Chromaffinoma 75
Medullary Paraganglioma 75
Chromaffin Cell Tumor 75
Pheochromoblastoma 75
Pcc 75

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Pheochromocytoma

NIH Rare Diseases : 53 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 sporadic pheochromocytoma/secreting paraganglioma, is related to extra-adrenal pheochromocytoma and hereditary paraganglioma-pheochromocytoma syndromes, and has symptoms including abdominal pain, chest pain and fever. An important gene associated with Pheochromocytoma is MAX (MYC Associated Factor X), and among its related pathways/superpathways are Neuroscience and Carbon metabolism. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, testes and thyroid, and related phenotypes are extraadrenal pheochromocytoma and adrenal pheochromocytoma

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)

UniProtKB/Swiss-Prot : 75 Pheochromocytoma: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.

MedlinePlus : 43 Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. Although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. This can lead to high blood pressure and cause symptoms such as Headaches Sweating Pounding of the heart Being shaky Being extremely pale Sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (MEN). People with MEN often have other cancers and other problems involving hormones. Doctors use lab tests and imaging tests to diagnose it. Surgery is the most common treatment. Other options include radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute

Wikipedia : 76 Pheochromocytoma (PCC) is a neuroendocrine tumor of the medulla of the adrenal glands (originating in... more...

Related Diseases for Pheochromocytoma

Diseases in the Pheochromocytoma family:

Sporadic Pheochromocytoma

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

(show top 50) (show all 275)
# Related Disease Score Top Affiliating Genes
1 extra-adrenal pheochromocytoma 34.6 PNMT SDHAF2 SDHB SDHC SDHD
2 hereditary paraganglioma-pheochromocytoma syndromes 34.6 KIF1B MAX RET SDHA SDHAF2 SDHB
3 sporadic pheochromocytoma 34.2 MAX NF1 RET SDHB SDHC SDHD
4 paragangliomas 1 34.0 SDHB SDHC SDHD
5 multiple endocrine neoplasia, type iia 33.9 GDNF MEN1 NF1 RET SDHB SDHD
6 multiple endocrine neoplasia, type iib 33.1 GDNF MEN1 RET
7 von hippel-lindau syndrome 33.0 CHGA CHGB MEN1 NF1 PNMT RET
8 neuroendocrine tumor 32.9 CHGA CHGB MEN1 SDHD
9 phaeochromocytoma 32.3 CHGA NF1 NGF RET SDHAF2 SDHB
10 paraganglioma 31.7 CHGA MAX NF1 RET SDHA SDHAF2
11 neurofibromatosis, type iv, of riccardi 31.4 NF1 RET SDHB SDHC SDHD VHL
12 thyroid carcinoma, familial medullary 31.3 CHGA CHGB GDNF MEN1 RET
13 neuroma 31.1 GDNF NF1 NGF RET
14 hyperparathyroidism 31.1 CHGA MEN1 RET
15 multiple endocrine neoplasia 31.1 CHGA GDNF MEN1 NF1 PNMT RET
16 primary hyperparathyroidism 31.0 CHGA MEN1 RET
17 parathyroid adenoma 30.8 CHGA MEN1 RET
18 carney triad 30.8 SDHA SDHB SDHC SDHD
19 mitochondrial complex ii deficiency 30.7 SDHA SDHAF2 SDHB SDHC SDHD
20 adrenal medulla cancer 30.5 PNMT RET SDHAF2 SDHB SDHC SDHD
21 gastrointestinal stromal tumor 30.5 CHGA MEN1 NF1 SDHA SDHB SDHC
22 glucagonoma 30.5 CHGA CHGB
23 multiple endocrine neoplasia, type i 30.4 CHGA MEN1 RET SDHB SDHD
24 parkinson disease, late-onset 28.7 GDNF H19 NGF TH
25 pheochromocytoma--islet cell tumor syndrome 12.1
26 adrenal gland pheochromocytoma 12.1
27 pheochromocytoma, childhood 12.0
28 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.0
29 adrenal carcinoma 11.5
30 paragangliomas 4 11.3
31 nonsyndromic paraganglioma 11.2
32 acromegaly 11.2
33 chondroma 11.1 SDHB SDHC SDHD
34 paraganglioma and gastric stromal sarcoma 11.1 SDHB SDHC SDHD
35 hypoganglionosis 11.1 GDNF RET TH
36 lymphatic system disease 11.1 SDHB SDHC SDHD
37 medullary sponge kidney 11.1 GDNF RET
38 goldberg-shprintzen syndrome 11.0 GDNF NGF RET
39 neural crest tumor 11.0 SDHA SDHAF2 SDHB SDHC SDHD
40 epithelioid malignant peripheral nerve sheath tumor 11.0 CHGA NF1
41 cowden disease 11.0 CHGA RET SDHB SDHC SDHD
42 central hypoventilation syndrome, congenital 11.0 GDNF RET TH
43 peripheral nervous system neoplasm 11.0 NF1 NGF TH
44 pancreatic serous cystadenoma 10.9 CHGA VHL
45 persistent generalized lymphadenopathy 10.9 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
46 lymph node disease 10.9 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
47 paragangliomas 2 10.8
48 paragangliomas 3 10.8
49 appendix adenocarcinoma 10.8
50 adrenal gland disease 10.8

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma

Symptoms & Phenotypes for Pheochromocytoma

Symptoms via clinical synopsis from OMIM:

57
Lab:
proteinuria
hypercalcemia
elevated urinary norepinephrine
positive regitine test

Neuro:
cerebral hemorrhage

Eyes:
hypertensive retinopathy
congenital cataracts
retinal angiomatosis

Oncology:
adrenal medullary tumor

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

Cardiac:
congestive heart failure
tachycardia

Vascular:
renal artery stenosis

Skin:
cafe-au-lait spots
sweating
hemangiomata

Endocrine:
episodic hypertension


Clinical features from OMIM:

171300

Human phenotypes related to Pheochromocytoma:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 extraadrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006737
2 adrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006748
3 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
4 glomerulosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0000096
5 episodic paroxysmal anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000740
6 episodic hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001069
7 hypertensive retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001095
8 cerebral hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001342
9 dysphonia 59 32 frequent (33%) Frequent (79-30%) HP:0001618
10 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
11 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
12 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018
13 recurrent paroxysmal headache 59 32 frequent (33%) Frequent (79-30%) HP:0002331
14 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574
15 paraganglioma of head and neck 59 32 frequent (33%) Frequent (79-30%) HP:0002864
16 hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0003072
17 elevated urinary norepinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003345
18 positive regitine blocking test 59 32 frequent (33%) Frequent (79-30%) HP:0003574
19 elevated urinary epinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003639
20 pulsatile tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0008629
21 paroxysmal vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0010532
22 sinus tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0011703
23 elevated urinary dopamine 59 32 frequent (33%) Frequent (79-30%) HP:0011979
24 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
25 flushing 59 32 frequent (33%) Frequent (79-30%) HP:0031284
26 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
27 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
28 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
29 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980
30 cranial nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0001293
31 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
32 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
33 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
34 panic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0025269
35 paraganglioma 59 Very frequent (99-80%)
36 hypertension associated with pheochromocytoma 59 Frequent (79-30%)
37 congenital cataract 32 HP:0000519
38 episodic hypertension 32 HP:0000875
39 cafe-au-lait spot 32 HP:0000957
40 hyperhidrosis 32 HP:0000975
41 hemangioma 32 HP:0001028
42 tachycardia 32 HP:0001649
43 renal artery stenosis 32 HP:0001920
44 neoplasm 32 HP:0002664
45 pheochromocytoma 32 HP:0002666

UMLS symptoms related to Pheochromocytoma:


abdominal pain, chest pain, fever, headache, tremor

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 GR00231-A 9.66 RET
6 Decreased viability GR00301-A 9.66 RET VHL
7 Decreased viability GR00381-A-1 9.66 SDHD
8 Decreased viability GR00402-S-2 9.66 MAX NF1 RET SDHD VHL
9 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Pheochromocytoma:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 MEN1 CHGA NF1 GDNF KIF1B NGF
2 homeostasis/metabolism MP:0005376 10.31 MEN1 CHGA NF1 CHGB KIF1B NGF
3 mortality/aging MP:0010768 10.24 MEN1 CHGA NF1 GDNF KIF1B ADM
4 endocrine/exocrine gland MP:0005379 10.22 MEN1 CHGA CHGB NF1 GDNF ADM
5 growth/size/body region MP:0005378 10.2 MAX MEN1 CHGA GDNF NF1 KIF1B
6 hematopoietic system MP:0005397 10.13 ADM GDNF NF1 KIF1B SDHC SDHD
7 embryo MP:0005380 10.1 MAX ADM MEN1 NF1 KIF1B SDHD
8 muscle MP:0005369 9.92 MEN1 NF1 GDNF KIF1B ADM RET
9 neoplasm MP:0002006 9.8 MEN1 NF1 SDHD RET TH SDHB
10 no phenotypic analysis MP:0003012 9.7 CHGA CHGB RET TH TMEM127 SDHB
11 normal MP:0002873 9.56 NF1 PNMT SDHD RET TH SDHB
12 renal/urinary system MP:0005367 9.17 ADM CHGA NF1 GDNF RET SDHB

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 149)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 4,Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 4,Phase 3,Phase 2 59-96-1 4768
3 Adrenergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
4 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
5 Adrenergic alpha-Antagonists Phase 4,Phase 3,Phase 2
6 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
7 Antihypertensive Agents Phase 4,Phase 3,Phase 2
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Vasodilator Agents Phase 4,Phase 3,Phase 2
10
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 1 38916-34-6, 51110-01-1 53481605
11
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
12
Ifosfamide Approved Phase 3 3778-73-2 3690
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
15
Doxil Approved June 1999 Phase 3,Phase 2 31703
16 3-Iodobenzylguanidine Phase 3,Phase 2,Phase 1,Not Applicable
17 Radiopharmaceuticals Phase 3,Phase 2,Phase 1,Not Applicable
18 Hormone Antagonists Phase 2, Phase 3,Phase 1
19 Hormones Phase 2, Phase 3,Phase 1
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
21 Alkylating Agents Phase 3,Phase 2,Phase 1
22 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
23 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
24 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
25
Isophosphamide mustard Phase 3 0
26 Topoisomerase Inhibitors Phase 3,Phase 2
27
Indinavir Approved Phase 2 150378-17-9 5362440
28
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
29
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
30
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
31
Carbidopa Approved Phase 2 28860-95-9 34359 38101
32
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
34
Iodine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 7553-56-2 807
35
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
36
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
37
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
38
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
39
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
40
Tamoxifen Approved Phase 2 10540-29-1 2733526
41
Melphalan Approved Phase 2 148-82-3 4053 460612
42
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
43
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
44
Dacarbazine Approved, Investigational Phase 2,Phase 1 4342-03-4 5351166
45
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
46
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
47
Lenvatinib Approved, Investigational Phase 2 417716-92-8
48
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
49
nivolumab Approved Phase 2 946414-94-4
50
Pembrolizumab Approved Phase 2 1374853-91-4

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Phenoxybenzamine Versus Doxazosin in PCC Patients Completed NCT01379898 Phase 4 Phenoxybenzamine;Doxazosin
2 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
3 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
4 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
5 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
6 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
7 Safety and Efficacy Study of In-111 Pentetreotide to Treat Neuroendocrine Tumors Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
8 Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
9 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
10 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
11 131MIBG to Treat Malignant Pheochromocytoma Completed NCT00028106 Phase 2 [131]I-MIBG;6-[18F]Fluorodopamine;[123]I-MIBG
12 Phase 1 Study of Iobenguane (MIBG) I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
13 Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Completed NCT00843037 Phase 2 Sunitinib
14 A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
15 RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid Completed NCT01152827 Phase 2 RAD001
16 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2 Fostamatinib disodium
17 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
18 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2 isolated perfusion;melphalan
19 Capecitabine and Temozolomide for Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
20 RAD001 and Erlotinib in Patients With Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
21 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
22 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
23 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
24 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
25 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid solution
26 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
27 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
28 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
29 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
30 MIBG Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2 MIBG
31 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
32 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2 Axitinib (AG-013736)
33 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
34 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
35 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
36 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
37 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
38 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
39 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
40 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
41 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
42 Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum Completed NCT00005860 Phase 1 floxuridine;leucovorin calcium;oxaliplatin
43 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
44 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
45 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
46 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Unknown status NCT02186678 Not Applicable
47 Evaluation of Plasma Catecholamine Concentration During Surgery Unknown status NCT00948181
48 Quantitative Measurement of Myocardial Perfusion by Cardiac CT in Patients Unknown status NCT02361996
49 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
50 Expanded Access Protocol for [123I]mIBG for Patients With Known or Suspected Neuroblastoma Approved for marketing NCT00730444 Iobenguane I 123 Injection

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Adrenal Gland, Testes, Thyroid, Heart, Kidney, Liver, Endothelial

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 1971)
# Title Authors Year
1
A case of pheochromocytoma crisis simulating acute coronary syndrome and multiple organ dysfunction syndrome. ( 29452308 )
2018
2
Anti-Tumorigenic and Anti-Metastatic Activity of the Sponge-Derived Marine Drugs Aeroplysinin-1 and Isofistularin-3 against Pheochromocytoma In Vitro. ( 29783778 )
2018
3
Extra-adrenal Pheochromocytoma Associated With Segmental Renal Artery Compression and Pseudostenosis. ( 29800631 )
2018
4
Rodent models of pheochromocytoma, parallels in rodent and human tumorigenesis. ( 29427052 )
2018
5
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature. ( 29942926 )
2018
6
Pathogenicity and Penetrance of Germline <i>SDHA</i> Variants in Pheochromocytoma and Paraganglioma (PPGL). ( 29978154 )
2018
7
Neuroprotective Effects of Bioactive Compounds and MAPK Pathway Modulation in &amp;quot;Ischemia&amp;quot;-Stressed PC12 Pheochromocytoma Cells. ( 29419806 )
2018
8
A rare presentation of pheochromocytoma in pregnancy: a case report. ( 29422092 )
2018
9
An unusual case of ectopic corticotrophin-releasing hormone syndrome caused by an adrenal noncatecholamine-secreting pheochromocytoma: a case report. ( 29921267 )
2018
10
Failure of Classical I^-Blocker Carvedilol to Deactivate Brown Adipose Tissue in a Patient With Pheochromocytoma. ( 29916915 )
2018
11
Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )
2018
12
Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )
2018
13
Pheochromocytoma in Denmark during 1977-2016: validating diagnosis codes and creating a national cohort using patterns of health registrations. ( 29942158 )
2018
14
Takotsubo syndrome induced by malignant pheochromocytoma in a patient with type 2 papillary renal cell carcinoma - a case report. ( 29785166 )
2018
15
A case of pheochromocytoma with negative MIBG scintigraphy, PET-CT and genetic tests (VHL included) and a rare case of post-operative erectile dysfunction. ( 29860716 )
2018
16
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
17
A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 29929757 )
2018
18
An Interesting Presentation of Pheochromocytoma. ( 29422732 )
2018
19
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma. ( 29794110 )
2018
20
A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma. ( 29850289 )
2018
21
Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )
2018
22
Successful management of a third-trimester pregnancy complicated by pheochromocytoma: case report. ( 29890868 )
2018
23
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )
2018
24
Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )
2018
25
Higher sympathetic activity as a risk factor for skeletal deterioration in pheochromocytoma. ( 29969750 )
2018
26
Laparoscopic approach to pheochromocytoma in pregnancy: case report. ( 29412551 )
2018
27
Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma. ( 29779206 )
2018
28
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
29
Two-stage resection of a bilateral pheochromocytoma and pancreatic neuroendocrine tumor in a patient with von Hippel-Lindau disease: A case report. ( 29501019 )
2018
30
Genomic Landscape of Pheochromocytoma and Paraganglioma. ( 29413423 )
2018
31
Re: Presentation and Surgery Outcomes in Elderly with Pheochromocytoma: A Comparative Analysis with Young Patients. ( 29357529 )
2018
32
Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. ( 29409060 )
2018
33
Hemodynamic instability during surgery for pheochromocytoma: comparing the transperitoneal and retroperitoneal approach in a multicenter analysis of 341 patients. ( 29122324 )
2018
34
Adrenal Collision Tumor Composed of Adrenocortical Adenoma and Pheochromocytoma. ( 29363662 )
2018
35
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
2018
36
DIAGNOSIS of ENDOCRINE DISEASE: SDHx mutations: beyond pheochromocytomas and paragangliomas. ( 28924001 )
2018
37
Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas. ( 28938490 )
2018
38
Pheochromocytoma crisis presenting with hypotension, hemoptysis, and abnormal liver function: A case report. ( 29923996 )
2018
39
Detection of brown adipose tissue by<sup>18</sup>F-FDG PET/CT in pheochromocytoma/paraganglioma: A systematic review. ( 29443440 )
2018
40
Investigation of amyloid formation inhibition of chemically and biogenically from Citrus aurantium L. blossoms and Rose damascena oils of gold nanoparticles: Toxicity evaluation in rat pheochromocytoma PC12 cells. ( 29425864 )
2018
41
Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review. ( 29747617 )
2018
42
Pheochromocytoma, &amp;quot;the Great Masquerader,&amp;quot; Presenting as Severe Acute Decompensated Heart Failure in a Young Patient. ( 29854474 )
2018
43
A Novel SDHB IVS2-2A&amp;gt;C Mutation Is Responsible for Hereditary Pheochromocytoma/Paraganglioma Syndrome. ( 29925701 )
2018
44
Re-operative Surgery for Pheochromocytoma-Paraganglioma: Analysis of 13 Cases from a Single Institution. ( 29915477 )
2018
45
High specificity of spot urinary free metanephrines in diagnosis and prognosis of pheochromocytomas and paragangliomas by HPLC with electrochemical detection. ( 29273559 )
2018
46
Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: A nationwide study and systematic review. ( 29361475 )
2018
47
DNA methylation analysis in malignant pheochromocytoma and paraganglioma. ( 29067245 )
2017
48
Hypertensive crisis in pregnancy due to a metamorphosing pheochromocytoma with postdelivery Cushing's syndrome. ( 28937294 )
2017
49
Metformin Suppresses Proliferation and Viability of Rat Pheochromocytoma Cells. ( 28675758 )
2017
50
Can cerebellin and renalase measurements contribute to the elimination of false positive results in pheochromocytoma and paraganglioma diagnoses? ( 28915965 )
2017

Variations for Pheochromocytoma

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

75 (show top 50) (show all 61)
# Symbol AA change Variation ID SNP ID
1 MAX p.Val9Leu VAR_079347 rs201743423
2 MAX p.Arg25Trp VAR_079349
3 MAX p.Arg35Cys VAR_079351
4 MAX p.Arg60Trp VAR_079353
5 MAX p.Ile71Ser VAR_079354
6 MAX p.Met74Val VAR_079355
7 MAX p.Arg90Pro VAR_079358
8 MAX p.Leu94Pro VAR_079359
9 MAX p.Leu102Pro VAR_079360
10 RET p.Cys634Gly VAR_006323 rs75076352
11 RET p.Cys634Phe VAR_006324 rs75996173
12 RET p.Cys634Tyr VAR_006325 rs75996173
13 RET p.Cys634Arg VAR_006326 rs75076352
14 RET p.Cys634Ser VAR_006327 rs75076352
15 RET p.Cys634Trp VAR_006328 rs77709286
16 RET p.Tyr791Phe VAR_009483 rs77724903
17 SDHB p.Arg242His VAR_017869 rs74315368
18 SDHB p.Leu87Ser VAR_018517 rs727504457
19 SDHB p.Arg46Gly VAR_035064 rs74315370
20 SDHB p.Cys101Tyr VAR_035065 rs74315371
21 SDHB p.Cys192Arg VAR_035066 rs786202732
22 SDHB p.Cys196Tyr VAR_035067 rs876658367
23 SDHB p.Ser100Phe VAR_037620 rs121917755
24 SDHB p.Ala43Pro VAR_054376
25 SDHB p.Arg46Gln VAR_054377 rs772551056
26 SDHB p.Gly53Arg VAR_054378
27 SDHB p.Leu65His VAR_054379 rs876659329
28 SDHB p.Leu65Pro VAR_054380
29 SDHB p.Ile127Asn VAR_054381
30 SDHB p.Arg230Cys VAR_054383 rs138996609
31 SDHD p.Pro81Leu VAR_010038 rs80338844
32 SDHD p.Asp92Tyr VAR_010039 rs80338845
33 TMEM127 p.Val90Met VAR_063595 rs121908823
34 TMEM127 p.Trp53Ser VAR_072273 rs121908818
35 TMEM127 p.Asp70Asn VAR_072274 rs121908819
36 TMEM127 p.Gly73Arg VAR_072275 rs121908820
37 TMEM127 p.Arg94Trp VAR_072276 rs121908824
38 TMEM127 p.Cys140Arg VAR_072277 rs121908827
39 TMEM127 p.Cys140Tyr VAR_072278 rs121908828
40 VHL p.Ser68Trp VAR_005675
41 VHL p.Ser80Asn VAR_005688 rs5030805
42 VHL p.Gly93Cys VAR_005703 rs5030808
43 VHL p.Gly93Ser VAR_005705 rs5030808
44 VHL p.Tyr98His VAR_005707 rs5030809
45 VHL p.Phe119Leu VAR_005728
46 VHL p.Phe136Cys VAR_005737 rs5030833
47 VHL p.Tyr156Cys VAR_005743 rs397516441
48 VHL p.Arg161Gln VAR_005751 rs730882035
49 VHL p.Arg161Pro VAR_005752
50 VHL p.Arg167Gln VAR_005761 rs5030821

ClinVar genetic disease variations for Pheochromocytoma:

6
(show top 50) (show all 1663)
# 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.410-2A> C single nucleotide variant Likely pathogenic,risk factor rs121908826 GRCh38 Chromosome 2, 96254117: 96254117
3 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic rs121908830 GRCh37 Chromosome 2, 96919788: 96919788
4 TMEM127 NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic rs121908830 GRCh38 Chromosome 2, 96254050: 96254050
5 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 GRCh37 Chromosome 2, 96920736: 96920736
6 TMEM127 NM_017849.3(TMEM127): c.245-1G> T single nucleotide variant Likely pathogenic,risk factor rs121908821 GRCh38 Chromosome 2, 96254998: 96254998
7 TMEM127 NM_017849.3(TMEM127): c.149_150insA (p.Pro51Alafs) insertion Likely pathogenic,risk factor rs121908817 GRCh37 Chromosome 2, 96930971: 96930971
8 TMEM127 NM_017849.3(TMEM127): c.149_150insA (p.Pro51Alafs) insertion Likely pathogenic,risk factor rs121908817 GRCh38 Chromosome 2, 96265233: 96265233
9 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh37 Chromosome 3, 10191506: 10191506
10 VHL NM_000551.3(VHL): c.499C> T (p.Arg167Trp) single nucleotide variant Pathogenic rs5030820 GRCh38 Chromosome 3, 10149822: 10149822
11 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
12 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic rs104893826 GRCh38 Chromosome 3, 10142038: 10142038
13 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
14 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh38 Chromosome 3, 10142124: 10142124
15 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
16 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh38 Chromosome 1, 10365476: 10365476
17 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
18 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
19 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
20 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
21 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
22 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
23 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
24 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
25 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
26 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
27 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
28 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
29 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
30 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh38 Chromosome 11, 112086908: 112086908
31 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
32 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh38 Chromosome 11, 112087933: 112087933
33 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh37 Chromosome 11, 111957664: 111957664
34 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh38 Chromosome 11, 112086940: 112086940
35 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh37 Chromosome 11, 111957645: 111957645
36 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh38 Chromosome 11, 112086921: 112086921
37 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
38 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
39 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
40 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh38 Chromosome 1, 17033078: 17033078
41 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
42 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh38 Chromosome 1, 17024025: 17024025
43 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
44 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh38 Chromosome 1, 17022648: 17022648
45 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
46 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh37 Chromosome 1, 17349149: 17349152
47 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
48 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh38 Chromosome 1, 17044882: 17044882
49 SDHB NM_003000.2(SDHB): c.136C> G (p.Arg46Gly) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
50 SDHB NM_003000.2(SDHB): c.136C> G (p.Arg46Gly) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825

Cosmic variations for Pheochromocytoma:

9
(show top 50) (show all 151)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM17666 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.593T>C p.L198P 3:10149916-10149916 21
2 COSM14311 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.499C>T p.R167W 3:10149822-10149822 21
3 COSM5885100 VHL adrenal gland,adrenal gland,pheochromocytoma,malignant c.250G>A p.V84M 3:10142097-10142097 21
4 COSM329087 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.4558C>T p.Q1520* 17:31260496-31260496 21
5 COSM24441 NF1 adrenal gland,adrenal gland,pheochromocytoma,malignant c.3721C>T p.R1241* 17:31235623-31235623 21
6 COSM14283 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.491A>G p.Q164R 3:10149814-10149814 20
7 COSM17662 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.492G>T p.Q164H 3:10149815-10149815 20
8 COSM18097 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.482G>A p.R161Q 3:10149805-10149805 20
9 COSM14321 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.227T>A p.F76Y 3:10142074-10142074 20
10 COSM6444479 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.260T>C p.V87A 3:10142107-10142107 20
11 COSM144975 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.475A>G p.K159E 3:10149798-10149798 20
12 COSM100047 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.389T>G p.V130G 3:10146562-10146562 20
13 COSM17982 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.496G>T p.V166F 3:10149819-10149819 20
14 COSM236660 VHL adrenal gland,adrenal gland,pheochromocytoma,benign c.250G>C p.V84L 3:10142097-10142097 20
15 COSM966 RET adrenal gland,adrenal gland,pheochromocytoma,benign c.1900T>C p.C634R 10:43114500-43114500 20
16 COSM220089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1885G>A p.Q616fs*4 17:31225134-31225134 20
17 COSM329092 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1721+3A>T p.A548fs*13 17:31221932-31221932 20
18 COSM30670 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7646C>G p.S2549* 17:31356490-31356490 20
19 COSM329090 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.226G>T p.E76* 17:31159031-31159031 20
20 COSM5885098 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.5665G>T p.E1889* 17:31330351-31330351 20
21 COSM329093 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1722-1G>A p.? 17:31223443-31223443 20
22 COSM329089 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1466A>G p.Y489C 17:31214524-31214524 20
23 COSM327926 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.3158C>A p.S1053* 17:31230886-31230886 20
24 COSM327927 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7582C>T p.Q2528* 17:31352381-31352381 20
25 COSM33676 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.6855C>A p.Y2285* 17:31338739-31338739 20
26 COSM1710108 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.7300C>T p.Q2434* 17:31349230-31349230 20
27 COSM330588 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.2409+1G>A p.A776_Q803del 17:31227607-31227607 20
28 COSM330587 NF1 adrenal gland,adrenal gland,pheochromocytoma,benign c.205-1G>C p.R69fs*7 17:31159009-31159009 20
29 COSM5946188 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.352A>T p.M118L 7:116699436-116699436 20
30 COSM707 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.3029C>T p.T1010I 7:116771936-116771936 20
31 COSM5967149 MET adrenal gland,adrenal gland,pheochromocytoma,benign c.607T>A p.S203T 7:116699691-116699691 20
32 COSM1732355 H3F3A adrenal gland,adrenal gland,pheochromocytoma,benign c.103G>T p.G35W 1:226064454-226064454 20
33 COSM19176 FGFR1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1638C>A p.N546K 8:38417331-38417331 20
34 COSM6188660 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1592C>T p.P531L 2:46380264-46380264 20
35 COSM6196778 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1104G>A p.M368I 2:46376608-46376608 20
36 COSM6196613 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1589C>A p.A530E 2:46380261-46380261 20
37 COSM6188649 EPAS1 adrenal gland,adrenal gland,pheochromocytoma,benign c.1595A>G p.Y532C 2:46380267-46380267 20
38 COSM17988 VHL adrenal gland,NS,pheochromocytoma,benign c.341-1G>T p.? 3:10146513-10146513 17
39 COSM144972 VHL adrenal gland,NS,pheochromocytoma,benign c.245G>T p.R82L 3:10142092-10142092 17
40 COSM144971 VHL adrenal gland,NS,pheochromocytoma,benign c.244C>G p.R82G 3:10142091-10142091 17
41 COSM3402726 NF1 adrenal gland,NS,pheochromocytoma,benign c.1307C>A p.S436* 17:31206286-31206286 17
42 COSM27887 GNAS adrenal gland,extraadrenal,pheochromocytoma,NS c.601C>T p.R201C 20:58909365-58909365 17
43 COSM6476262 EPAS1 adrenal gland,NS,pheochromocytoma,benign c.1601C>T p.P534L 2:46380273-46380273 17
44 COSM6444480 VHL autonomic ganglia,abdomen,paraganglioma,benign c.191G>C p.R64P 3:10142038-10142038 7
45 COSM6188568 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1589C>T p.A530V 2:46380261-46380261 7
46 COSM6444478 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1615G>T p.D539Y 2:46380287-46380287 7
47 COSM6476264 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1600C>A p.P534T 2:46380272-46380272 7
48 COSM6476263 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1599C>G p.I533M 2:46380271-46380271 7
49 COSM14320 VHL thyroid,NS,carcinoma,medullary carcinoma c.233A>T p.N78I 3:10142080-10142080 3
50 COSM10654 TP53 thyroid,NS,carcinoma,medullary carcinoma c.637C>T p.R213* 17:7674894-7674894 3

Copy number variations for Pheochromocytoma from CNVD:

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

Expression for Pheochromocytoma

Search GEO for disease gene expression data for Pheochromocytoma.

Pathways for Pheochromocytoma

GO Terms for Pheochromocytoma

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.92 KIF1B SDHA SDHAF2 SDHB SDHC SDHD
2 axon GO:0030424 9.65 KIF1B NF1 NGF RET TH
3 dendrite GO:0030425 9.43 KIF1B MAX NF1 NGF RET TH
4 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.81 GDNF MEN1 NF1 RET
2 electron transport chain GO:0022900 9.67 SDHA SDHB SDHC
3 negative regulation of cell proliferation GO:0008285 9.63 ADM MEN1 NF1 NGF TMEM127 VHL
4 respiratory electron transport chain GO:0022904 9.56 SDHA SDHB
5 cellular response to peptide hormone stimulus GO:0071375 9.55 MAX MEN1
6 regulation of the force of heart contraction GO:0002026 9.54 ADM CHGA
7 sympathetic nervous system development GO:0048485 9.52 GDNF NF1
8 peripheral nervous system development GO:0007422 9.5 GDNF NF1 NGF
9 positive regulation of cAMP metabolic process GO:0030816 9.48 ADM CHGA
10 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.46 NF1 RET
11 enteric nervous system development GO:0048484 9.43 GDNF RET
12 succinate metabolic process GO:0006105 9.4 SDHA SDHB
13 catecholamine biosynthetic process GO:0042423 9.37 PNMT TH
14 tricarboxylic acid cycle GO:0006099 9.35 SDHA SDHAF2 SDHB SDHC SDHD
15 epinephrine biosynthetic process GO:0042418 9.26 PNMT TH
16 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.92 SDHA SDHAF2 SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 ubiquinone binding GO:0048039 9.26 SDHB SDHD
3 succinate dehydrogenase activity GO:0000104 9.13 SDHA SDHC SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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