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PCC
MCID: PHC003
MIFTS: 72

Pheochromocytoma (PCC)

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pheochromocytoma

About this section

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma 57 12 76 53 75 29 13 55 6 43 44 15 40 73
Pheochromocytoma, Susceptibility to 57 6
Pheochromocytoma, Modifier of 57 6
an Endocrine Organ Benign Neoplasm That Arises Within the Adrenal Medulla, Releasing Epinephrines and Norepinephrines Hormones That Cause Either Episodic or Persistent High Blood Pressure. 12
Chromaffin Paraganglioma of the Adrenal Gland 53
Adrenal Gland Chromaffin Paraganglioma 53
Adrenal Gland Pheochromocytoma 53
Adrenal Gland Chromaffinoma 53
Adrenal Gland Paraganglioma 53
Pheochromocytoma, Malignant 73
Intraadrenal Paraganglioma 53
Chromaffin Cell Neoplasm 73
Medullary Chromaffinoma 75
Medullary Paraganglioma 75
Chromaffin Cell Tumor 75
Pheochromoblastoma 75
Phaeochromocytoma 12
Pcc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
pheochromocytoma:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Endocrine diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Pheochromocytoma

About this section
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 pheochromocytoma, susceptibility to, is related to hereditary paraganglioma-pheochromocytoma syndromes and extra-adrenal pheochromocytoma, and has symptoms including tremor, fever and abdominal pain. 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 hyperhidrosis and proteinuria

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)

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

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.

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

Sources

Related Diseases for Pheochromocytoma

About this section

Diseases in the Pheochromocytoma family:

Malignant Pheochromocytoma Sporadic Pheochromocytoma

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

(show top 50) (show all 380)
# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 34.4 VHL TMEM127 SDHD SDHC SDHB SDHAF2
2 extra-adrenal pheochromocytoma 34.0 SDHAF2 SDHB SDHC SDHD
3 malignant pheochromocytoma 33.9 CALCA CHGA SDHB
4 sporadic pheochromocytoma 33.7 VHL SDHD SDHC SDHB RET NF1
5 multiple endocrine neoplasia, type iia 33.5 SDHD SDHB RET NF1 MEN1 GDNF
6 von hippel-lindau syndrome 33.2 VHL SDHD SDHC SDHB RET NF1
7 paragangliomas 1 33.1 SDHD SDHC SDHB RET CHGA
8 multiple endocrine neoplasia, type iib 33.0 CALCA GDNF MEN1 RET
9 paraganglioma 32.8 VHL TMEM127 SDHD SDHC SDHB SDHAF2
10 neuroendocrine tumor 32.5 CALCA CHGA CHGB MEN1
11 multiple endocrine neoplasia 31.2 VHL SDHC SDHB RET NF1 MEN1
12 thyroid carcinoma, familial medullary 30.9 RET MEN1 GDNF CHGB CHGA CALCA
13 hyperparathyroidism 30.8 CALCA CHGA MEN1 RET
14 neurofibromatosis, type iv, of riccardi 30.7 SDHD SDHC SDHB RET NF1 VHL
15 primary hyperparathyroidism 30.6 CALCA CHGA MEN1 RET
16 islet cell tumor 30.4 CALCA CHGA MEN1
17 parathyroid adenoma 30.4 CALCA CHGA MEN1 RET
18 neuroma 30.3 CALCA GDNF NGF RET
19 carcinoid syndrome 30.3 CALCA CHGA MEN1
20 thyroid cancer 30.2 CALCA CHGA GDNF H19 RET
21 multiple endocrine neoplasia, type i 30.2 CHGA MEN1 RET SDHB SDHD
22 hemangioma 30.2 VHL RET CHGA
23 lung oat cell carcinoma 30.1 CALCA CHGA
24 gastrointestinal stromal tumor 30.1 CHGA MEN1 NF1 SDHA SDHB SDHC
25 carney triad 30.0 SDHA SDHB SDHC SDHD
26 mitochondrial complex ii deficiency 30.0 SDHC SDHD SDHB SDHAF2 SDHA
27 adrenal medulla cancer 30.0 SDHD SDHC SDHB SDHAF2 RET CHGA
28 constipation 30.0 CALCA GDNF RET
29 adrenocortical carcinoma, hereditary 29.9 H19 CHGA ADM
30 glucagonoma 29.9 CHGB CHGA
31 adrenal gland pheochromocytoma 12.3
32 pheochromocytoma--islet cell tumor syndrome 12.2
33 pheochromocytoma, childhood 12.2
34 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 12.1
35 sporadic pheochromocytoma/secreting paraganglioma 12.0
36 paragangliomas 4 11.8
37 adrenal carcinoma 11.6
38 propionic acidemia 11.3
39 nonsyndromic paraganglioma 11.3
40 acromegaly 11.3
41 cataract 4, multiple types 11.3
42 microcephaly 1, primary, autosomal recessive 11.2
43 cataract congenital dominant non nuclear 11.0
44 appendix adenocarcinoma 11.0
45 adrenal gland disease 11.0
46 paragangliomas 2 11.0
47 paragangliomas 3 11.0
48 adenoma 10.5
49 chondroma 10.4 SDHB SDHC SDHD
50 paraganglioma and gastric stromal sarcoma 10.4 SDHB SDHC SDHD

Graphical network of the top 20 diseases related to Pheochromocytoma:



Diseases related to Pheochromocytoma
Sources

Symptoms & Phenotypes for Pheochromocytoma

About this section

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:

32 (show all 16)
# 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 cafe-au-lait spot 32 HP:0000957
10 hemangioma 32 HP:0001028
11 congenital cataract 32 HP:0000519
12 renal artery stenosis 32 HP:0001920
13 hypertensive retinopathy 32 HP:0001095
14 elevated urinary norepinephrine 32 HP:0003345
15 positive regitine blocking test 32 HP:0003574
16 episodic hypertension 32 HP:0000875

UMLS symptoms related to Pheochromocytoma:


tremor, fever, abdominal pain, chest pain, headache

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.66 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.66 MAX
4 Decreased viability GR00221-A-4 9.66 NF1 RET SDHD
5 Decreased viability 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
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.2 ADM CHGA GDNF KIF1B MEN1 NF1
2 homeostasis/metabolism MP:0005376 10.17 ADM CHGA CHGB KIF1B MEN1 NF1
3 endocrine/exocrine gland MP:0005379 10.1 ADM CHGA CHGB GDNF MEN1 NF1
4 mortality/aging MP:0010768 10.1 ADM CHGA GDNF KIF1B MAX MEN1
5 hematopoietic system MP:0005397 10.07 ADM GDNF KIF1B NF1 RET SDHB
6 embryo MP:0005380 10.03 ADM KIF1B MAX MEN1 NF1 RET
7 muscle MP:0005369 9.81 ADM CHGA GDNF KIF1B MEN1 NF1
8 neoplasm MP:0002006 9.43 MEN1 NF1 RET SDHB SDHD VHL
9 renal/urinary system MP:0005367 9.17 ADM CHGA GDNF NF1 RET SDHB
Sources

Drugs & Therapeutics for Pheochromocytoma

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

(show top 50) (show all 159)
# 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 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
5 Vasodilator Agents Phase 4,Phase 3,Phase 2
6 Adrenergic alpha-1 Receptor Antagonists Phase 4,Phase 3
7 Adrenergic alpha-Antagonists Phase 4,Phase 3,Phase 2
8 Antihypertensive Agents Phase 4,Phase 3,Phase 2
9 Adrenergic Antagonists Phase 4,Phase 3,Phase 2
10
Somatostatin Approved, Investigational Phase 2, Phase 3,Phase 1 51110-01-1, 38916-34-6 53481605
11
Lenograstim Approved, Investigational Phase 3 135968-09-1
12
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
13
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
14
Ifosfamide Approved Phase 3 3778-73-2 3690
15
Doxil Approved June 1999 Phase 3,Phase 2 31703
16 Radiopharmaceuticals Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 3-Iodobenzylguanidine Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Hormones Phase 2, Phase 3,Phase 1
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
20 Hormone Antagonists Phase 2, Phase 3,Phase 1
21
Isophosphamide mustard Phase 3 0
22 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
23 Topoisomerase Inhibitors Phase 3,Phase 2
24 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
25 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
26 Alkylating Agents Phase 3,Phase 2,Phase 1
27
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
28
Indinavir Approved Phase 2 150378-17-9 5362440
29
Racepinephrine Approved Phase 2,Not Applicable 329-65-7 838
30
Epinephrine Approved, Vet_approved Phase 2,Not Applicable 51-43-4 5816
31
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
32
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
33
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
34
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
35
Carbidopa Approved Phase 2 28860-95-9 34359 38101
36
Iodine Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 7553-56-2 807
37
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
38
Everolimus Approved Phase 2,Phase 1 159351-69-6 6442177
39
Sirolimus Approved, Investigational Phase 2,Phase 1 53123-88-9 46835353 6436030 5284616
40
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
41
Tamoxifen Approved Phase 2 10540-29-1 2733526
42
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
43
Pancrelipase Approved, Investigational Phase 2,Not Applicable 53608-75-6
44
Melphalan Approved Phase 2 148-82-3 4053 460612
45
Capecitabine Approved, Investigational Phase 2,Phase 1 154361-50-9 60953
46
Dacarbazine Approved, Investigational Phase 2,Phase 1 4342-03-4 5351166
47
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
48
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 383414 6400441
49
Lenvatinib Approved, Investigational Phase 2 417716-92-8
50
Azacitidine Approved, Investigational Phase 2 320-67-2 9444

Interventional clinical trials:

(show top 50) (show all 90)
# 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 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
22 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
23 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
24 Lenvatinib in Treating Patients With Metastatic or Advanced Pheochromocytoma or Paraganglioma That Cannot Be Removed by Surgery Recruiting NCT03008369 Phase 2 Lenvatinib
25 Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib
26 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;Amino Acid solution
27 Iodine I 131 Metaiodobenzylguanidine in Treating Patients With Recurrent, Progressive, or Refractory Neuroblastoma or Malignant Pheochromocytoma or Paraganglioma Recruiting NCT00107289 Phase 2
28 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)
29 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
30 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
31 MIBG Therapy for Patients With MIBG Avid Tumors Recruiting NCT02378428 Phase 2 MIBG
32 Pembrolizumab in Treating Patients With Rare Tumors That Cannot Be Removed by Surgery or Are Metastatic Recruiting NCT02721732 Phase 2
33 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)
34 A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
35 Dovitinib in Neuroendocrine Tumors Active, not recruiting NCT01635907 Phase 2 Dovitinib
36 Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
37 Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors Terminated NCT00466856 Phase 2 octreotide acetate
38 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
39 ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
40 Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors Completed NCT00049023 Phase 1
41 Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
42 Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors Completed NCT00655655 Phase 1 everolimus;vatalanib
43 Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum Completed NCT00005860 Phase 1 floxuridine;leucovorin calcium;oxaliplatin
44 Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer Terminated NCT00002947 Phase 1
45 Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
46 Veliparib, Capecitabine, and Temozolomide in Patients With Advanced, Metastatic, and Recurrent Neuroendocrine Tumor Withdrawn NCT02831179 Phase 1 Capecitabine;Temozolomide;Veliparib
47 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation Unknown status NCT02186678 Not Applicable
48 Evaluation of Plasma Catecholamine Concentration During Surgery Unknown status NCT00948181
49 Towards an Easy-to-use Adrenal Cancer/Tumor Identity Card Unknown status NCT02672020 Not Applicable
50 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335

Search NIH Clinical Center for Pheochromocytoma

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


Cochrane evidence based reviews: pheochromocytoma

Sources

Genetic Tests for Pheochromocytoma

About this section

Genetic tests related to Pheochromocytoma:

# Genetic test Affiliating Genes
1 Pheochromocytoma 29 GDNF KIF1B MAX RET SDHB SDHD TMEM127 VHL
Sources

Anatomical Context for Pheochromocytoma

About this section

MalaCards organs/tissues related to Pheochromocytoma:

41
Adrenal Gland, Testes, Thyroid, Heart, Kidney, Bone, Lung
Sources

Publications for Pheochromocytoma

About this section

Articles related to Pheochromocytoma:

(show top 50) (show all 2667)
# Title Authors Year
1
Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. ( 30113649 )
2019
2
Oncometabolite induced primary cilia loss in pheochromocytoma. ( 30345732 )
2019
3
A case of pheochromocytoma crisis simulating acute coronary syndrome and multiple organ dysfunction syndrome. ( 29452308 )
2018
4
Anti-Tumorigenic and Anti-Metastatic Activity of the Sponge-Derived Marine Drugs Aeroplysinin-1 and Isofistularin-3 against Pheochromocytoma In Vitro. ( 29783778 )
2018
5
Extra-adrenal Pheochromocytoma Associated With Segmental Renal Artery Compression and Pseudostenosis. ( 29800631 )
2018
6
Rodent models of pheochromocytoma, parallels in rodent and human tumorigenesis. ( 29427052 )
2018
7
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature. ( 29942926 )
2018
8
Pathogenicity and Penetrance of Germline <i>SDHA</i> Variants in Pheochromocytoma and Paraganglioma (PPGL). ( 29978154 )
2018
9
Neuroprotective Effects of Bioactive Compounds and MAPK Pathway Modulation in &amp;quot;Ischemia&amp;quot;-Stressed PC12 Pheochromocytoma Cells. ( 29419806 )
2018
10
A rare presentation of pheochromocytoma in pregnancy: a case report. ( 29422092 )
2018
11
An unusual case of ectopic corticotrophin-releasing hormone syndrome caused by an adrenal noncatecholamine-secreting pheochromocytoma: a case report. ( 29921267 )
2018
12
Failure of Classical I^-Blocker Carvedilol to Deactivate Brown Adipose Tissue in a Patient With Pheochromocytoma. ( 29916915 )
2018
13
Molecular imaging and theranostic approaches in pheochromocytoma and paraganglioma. ( 29450723 )
2018
14
Application of Three-Dimensional Visualization Technology in Laparoscopic Surgery for Pheochromocytoma/Paraganglioma: A Single-Center Experience. ( 29406808 )
2018
15
Pheochromocytoma in Denmark during 1977-2016: validating diagnosis codes and creating a national cohort using patterns of health registrations. ( 29942158 )
2018
16
Takotsubo syndrome induced by malignant pheochromocytoma in a patient with type 2 papillary renal cell carcinoma - a case report. ( 29785166 )
2018
17
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
18
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
19
A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 29929757 )
2018
20
An Interesting Presentation of Pheochromocytoma. ( 29422732 )
2018
21
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma. ( 29794110 )
2018
22
A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma. ( 29850289 )
2018
23
Metabolic implications of hypoxia and pseudohypoxia in pheochromocytoma and paraganglioma. ( 29450727 )
2018
24
Successful management of a third-trimester pregnancy complicated by pheochromocytoma: case report. ( 29890868 )
2018
25
Pheochromocytoma and paraganglioma: genotype versus anatomic location as determinants of tumor phenotype. ( 29362886 )
2018
26
Predicting Genotype with Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma. ( 29391129 )
2018
27
Higher sympathetic activity as a risk factor for skeletal deterioration in pheochromocytoma. ( 29969750 )
2018
28
Laparoscopic approach to pheochromocytoma in pregnancy: case report. ( 29412551 )
2018
29
Old, New, and Emerging Immunohistochemical Markers in Pheochromocytoma and Paraganglioma. ( 29779206 )
2018
30
Recontacting Patients with Updated Genetic Testing Recommendations for Medullary Thyroid Carcinoma and Pheochromocytoma or Paraganglioma. ( 29427212 )
2018
31
Two-stage resection of a bilateral pheochromocytoma and pancreatic neuroendocrine tumor in a patient with von Hippel-Lindau disease: A case report. ( 29501019 )
2018
32
Genomic Landscape of Pheochromocytoma and Paraganglioma. ( 29413423 )
2018
33
Re: Presentation and Surgery Outcomes in Elderly with Pheochromocytoma: A Comparative Analysis with Young Patients. ( 29357529 )
2018
34
Pheochromocytoma/Paraganglioma: A Poster Child for Cancer Metabolism. ( 29409060 )
2018
35
Hemodynamic instability during surgery for pheochromocytoma: comparing the transperitoneal and retroperitoneal approach in a multicenter analysis of 341 patients. ( 29122324 )
2018
36
Adrenal Collision Tumor Composed of Adrenocortical Adenoma and Pheochromocytoma. ( 29363662 )
2018
37
Pheochromocytoma and Paraganglioma in Neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. ( 29977594 )
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
Radiomics improves efficiency for differentiating subclinical pheochromocytoma from lipid-poor adenoma: a predictive, preventive and personalized medical approach in adrenal incidentalomas. ( 30538793 )
2018
45
Pheochromocytoma - An incidental finding in a child with acute appendicitis. ( 30504959 )
2018
46
Adrenergic cardiomyopathy and cardiogenic shock as initial presentation of pheochromocytoma. A case report and review of the literature. ( 30007262 )
2018
47
Extracorporeal membrane oxygenation in pheochromocytoma-induced cardiogenic shock. ( 28823181 )
2018
48
A Rare Case Report of Extra-adrenal Pheochromocytoma with Normal Blood Pressure: Is that Possible? ( 30357026 )
2018
49
Differences in the actions of adrenaline and noradrenaline with regard to glucose intolerance in patients with pheochromocytoma. ( 30542047 )
2018
50
Multifocal pheochromocytoma-paraganglioma in a 29-year-old woman with cyanotic congenital heart disease. ( 30340856 )
2018
Sources

Variations for Pheochromocytoma

About this section

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 1959)
# 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.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh37 Chromosome 3, 10191569: 10191569
12 VHL NM_000551.3(VHL): c.562C> G (p.Leu188Val) single nucleotide variant Conflicting interpretations of pathogenicity rs5030824 GRCh38 Chromosome 3, 10149885: 10149885
13 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh37 Chromosome 3, 10183722: 10183722
14 VHL NM_000551.3(VHL): c.191G> C (p.Arg64Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104893826 GRCh38 Chromosome 3, 10142038: 10142038
15 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh37 Chromosome 3, 10183719: 10183719
16 VHL NM_000551.3(VHL): c.188T> C (p.Leu63Pro) single nucleotide variant Uncertain significance rs104893827 GRCh38 Chromosome 3, 10142035: 10142035
17 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh37 Chromosome 3, 10183808: 10183808
18 VHL NM_000551.3(VHL): c.277G> A (p.Gly93Ser) single nucleotide variant Pathogenic rs5030808 GRCh38 Chromosome 3, 10142124: 10142124
19 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
20 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh38 Chromosome 1, 10365476: 10365476
21 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
22 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
23 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh37 Chromosome 11, 111957665: 111957665
24 SDHD NM_003002.3(SDHD): c.34G> A (p.Gly12Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34677591 GRCh38 Chromosome 11, 112086941: 112086941
25 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
26 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
27 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
28 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
29 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
30 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Likely pathogenic rs104894302 GRCh38 Chromosome 11, 112089002: 112089002
31 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
32 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831
33 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
34 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh38 Chromosome 11, 112087868: 112087868
35 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh37 Chromosome 11, 111959612: 111959613
36 SDHD NM_003002.3(SDHD): c.191_192delTC (p.Leu64Profs) deletion Pathogenic rs387906358 GRCh38 Chromosome 11, 112088888: 112088889
37 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh37 Chromosome 11, 111958677: 111958677
38 SDHD NM_003002.3(SDHD): c.149A> G (p.His50Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs11214077 GRCh38 Chromosome 11, 112087953: 112087953
39 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
40 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh38 Chromosome 11, 112086908: 112086908
41 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
42 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh38 Chromosome 11, 112087933: 112087933
43 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh37 Chromosome 11, 111957664: 111957664
44 SDHD NM_003002.3(SDHD): c.33C> A (p.Cys11Ter) single nucleotide variant Pathogenic rs104894309 GRCh38 Chromosome 11, 112086940: 112086940
45 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh37 Chromosome 11, 111957645: 111957645
46 SDHD NM_003002.3(SDHD): c.14G> A (p.Trp5Ter) single nucleotide variant Pathogenic rs104894310 GRCh38 Chromosome 11, 112086921: 112086921
47 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
48 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
49 SDHD NM_003002.3(SDHD): c.433C> A (p.His145Asn) single nucleotide variant Uncertain significance rs121908984 GRCh37 Chromosome 11, 111965647: 111965647
50 SDHD NM_003002.3(SDHD): c.433C> A (p.His145Asn) single nucleotide variant Uncertain significance rs121908984 GRCh38 Chromosome 11, 112094923: 112094923

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

Expression for Pheochromocytoma

About this section
Search GEO for disease gene expression data for Pheochromocytoma.
Sources

Pathways for Pheochromocytoma

About this section

Pathways related to Pheochromocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.09 CALCA NF1 NGF RET
2
Carbon metabolism 37
Show member pathways
 11.78 SDHA SDHB SDHC SDHD
3
Pyruvate metabolism and Citric Acid (TCA) cycle 66
Show member pathways
 11.37 SDHA SDHB SDHC SDHD
4
Citrate cycle (TCA cycle) 37
Show member pathways
 10.94 SDHA SDHB SDHC SDHD
Sources

GO Terms for Pheochromocytoma

About this section

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.87 KIF1B SDHA SDHAF2 SDHB SDHC SDHD
2 dendrite GO:0030425 9.65 KIF1B MAX NF1 NGF RET
3 axon GO:0030424 9.55 CALCA KIF1B NF1 NGF RET
4 respiratory chain complex II GO:0045273 8.96 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 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.77 ADM CALCA CHGB GDNF NGF
2 MAPK cascade GO:0000165 9.71 GDNF MEN1 NF1 RET
3 electron transport chain GO:0022900 9.69 SDHA SDHB SDHC
4 negative regulation of cell proliferation GO:0008285 9.63 ADM MEN1 NF1 NGF TMEM127 VHL
5 cellular response to peptide hormone stimulus GO:0071375 9.57 MAX MEN1
6 regulation of the force of heart contraction GO:0002026 9.56 ADM CHGA
7 response to pain GO:0048265 9.55 CALCA RET
8 respiratory electron transport chain GO:0022904 9.54 SDHA SDHB
9 sympathetic nervous system development GO:0048485 9.52 GDNF NF1
10 enteric nervous system development GO:0048484 9.49 GDNF RET
11 G protein-coupled receptor internalization GO:0002031 9.48 ADM CALCA
12 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.46 NF1 RET
13 succinate metabolic process GO:0006105 9.43 SDHA SDHB
14 peripheral nervous system development GO:0007422 9.43 GDNF NF1 NGF
15 tricarboxylic acid cycle GO:0006099 9.35 SDHA SDHAF2 SDHB SDHC SDHD
16 amylin receptor signaling pathway GO:0097647 9.32 ADM CALCA
17 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 hormone activity GO:0005179 9.5 ADM CALCA CHGB
2 electron transfer activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
3 succinate dehydrogenase activity GO:0000104 9.26 SDHA SDHD
4 ubiquinone binding GO:0048039 9.13 SDHB SDHC SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD
Sources

Sources for Pheochromocytoma

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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