Pheochromocytoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PCC MCID: PHC003 MIFTS: 72	Pheochromocytoma (PCC) Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Name: Pheochromocytoma ⁵⁸ ¹² ⁷⁷ ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁵⁶ ⁶ ⁴⁴ ⁴⁵ ¹⁵ ⁴¹ ⁷⁴

Pheochromocytoma, Susceptibility to ⁵⁸ ⁶

Pheochromocytoma, Modifier of ⁵⁸ ⁶

Chromaffin Paraganglioma of the Adrenal Gland ⁵⁴

Adrenal Gland Chromaffin Paraganglioma ⁵⁴

Adrenal Gland Pheochromocytoma ⁵⁴

Adrenal Gland Chromaffinoma ⁵⁴

Adrenal Gland Paraganglioma ⁵⁴

Pheochromocytoma, Malignant ⁷⁴

Intraadrenal Paraganglioma ⁵⁴

Chromaffin Cell Neoplasm ⁷⁴

Medullary Chromaffinoma ⁷⁶

Medullary Paraganglioma ⁷⁶

Chromaffin Cell Tumor ⁷⁶

Pheochromoblastoma ⁷⁶

Phaeochromocytoma ¹²

Pcc ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

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)

External Ids:

Disease Ontology ¹² DOID:0050771

OMIM ⁵⁸ 171300

MeSH ⁴⁵ D010673

MedGen ⁴³ C0031511 C3149711

UMLS ⁷⁴ C0031511 C0334419 C1302282

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Summaries for Pheochromocytoma

NIH Rare Diseases : ⁵⁴ 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, thyroid and testes, and related phenotypes are hyperhidrosis and proteinuria

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

OMIM : ⁵⁸ 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 : ⁴⁴ 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 : ⁷⁶ 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 : ⁷⁷ Pheochromocytomas (PH or PCC) are tumors arising from chromaffin cells of the adrenal medulla that... more...

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Related Diseases for Pheochromocytoma

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 471)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary paraganglioma-pheochromocytoma syndromes	34.7	KIF1B MAX RET SDHA SDHAF2 SDHB
2	extra-adrenal pheochromocytoma	34.6	SDHAF2 SDHB SDHC SDHD
3	malignant pheochromocytoma	34.3	CALCA CHGA SDHB
4	sporadic pheochromocytoma	34.1	MAX NF1 RET SDHB SDHC SDHD
5	multiple endocrine neoplasia, type iia	33.9	CALCA GDNF MEN1 NF1 RET SDHB
6	paragangliomas 1	33.7	CHGA RET SDHB SDHC SDHD
7	von hippel-lindau syndrome	33.5	CHGA CHGB MEN1 NF1 RET SDHB
8	multiple endocrine neoplasia, type iib	33.4	CALCA GDNF MEN1 RET
9	paraganglioma	33.1	CHGA MAX NF1 RET SDHA SDHAF2
10	neuroendocrine tumor	32.8	CALCA CHGA CHGB MEN1
11	multiple endocrine neoplasia	31.5	CALCA CHGA GDNF MEN1 NF1 RET
12	neurofibromatosis, type iv, of riccardi	31.5	NF1 RET SDHB SDHC SDHD VHL
13	thyroid carcinoma, familial medullary	31.4	CALCA CHGA CHGB GDNF MEN1 RET
14	hyperparathyroidism	31.1	CALCA CHGA MEN1 RET
15	primary hyperparathyroidism	31.0	CALCA CHGA MEN1 RET
16	neuroma	31.0	CALCA GDNF NGF RET
17	thyroid cancer	30.9	CALCA CHGA GDNF H19 RET
18	parathyroid adenoma	30.8	CALCA CHGA MEN1 RET
19	carcinoid syndrome	30.7	CALCA CHGA MEN1
20	islet cell tumor	30.7	CALCA CHGA MEN1
21	gastrointestinal stromal tumor	30.6	CHGA MEN1 NF1 SDHA SDHB SDHC
22	hemangioma	30.6	CHGA RET VHL
23	mitochondrial complex ii deficiency	30.5	SDHA SDHAF2 SDHB SDHC SDHD
24	constipation	30.5	CALCA GDNF RET
25	multiple endocrine neoplasia, type i	30.5	CHGA MEN1 RET SDHB SDHD
26	lung oat cell carcinoma	30.4	CALCA CHGA
27	paraganglioma and gastric stromal sarcoma	30.4	SDHB SDHC SDHD
28	carney triad	30.3	SDHA SDHB SDHC SDHD
29	adrenal medulla cancer	30.3	CHGA RET SDHAF2 SDHB SDHC SDHD
30	carcinoid tumors, intestinal	30.2	CHGA CHGB MEN1 SDHD
31	endocrine gland cancer	30.2	CALCA CHGA MEN1 RET
32	adrenocortical carcinoma, hereditary	30.0	ADM CHGA H19
33	glucagonoma	30.0	CHGA CHGB
34	adrenal gland pheochromocytoma	12.6
35	malignant pediatric adrenal gland pheochromocytoma	12.3
36	pheochromocytoma--islet cell tumor syndrome	12.3
37	pheochromocytoma, childhood	12.2
38	neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome	12.1
39	sporadic pheochromocytoma/secreting paraganglioma	12.0
40	paragangliomas 4	11.8
41	adrenal carcinoma	11.6
42	propionic acidemia	11.4
43	acromegaly	11.4
44	nonsyndromic paraganglioma	11.4
45	paragangliomas 2	11.3
46	paragangliomas 3	11.3
47	cataract 4, multiple types	11.3
48	microcephaly 1, primary, autosomal recessive	11.2
49	cataract congenital dominant non nuclear	11.1
50	appendix adenocarcinoma	11.0

Graphical network of the top 20 diseases related to Pheochromocytoma:

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Symptoms & Phenotypes for Pheochromocytoma

Human phenotypes related to Pheochromocytoma:

³³ (show all 16)

#	Description	HPO Source Accession
1	hyperhidrosis ³³	HP:0000975
2	proteinuria ³³	HP:0000093
3	neoplasm ³³	HP:0002664
4	congestive heart failure ³³	HP:0001635
5	pheochromocytoma ³³	HP:0002666
6	hypercalcemia ³³	HP:0003072
7	cerebral hemorrhage ³³	HP:0001342
8	tachycardia ³³	HP:0001649
9	cafe-au-lait spot ³³	HP:0000957
10	hemangioma ³³	HP:0001028
11	renal artery stenosis ³³	HP:0001920
12	hypertensive retinopathy ³³	HP:0001095
13	elevated urinary norepinephrine ³³	HP:0003345
14	positive regitine blocking test ³³	HP:0003574
15	episodic hypertension ³³	HP:0000875
16	developmental cataract ³³	HP:0000519

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

UMLS symptoms related to Pheochromocytoma:

tremor, fever, abdominal pain, headache, chest pain

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

²⁷

#	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:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.17	ADM CHGA CHGB KIF1B MEN1 NF1
2	cardiovascular system	MP:0005385	10.16	ADM CHGA GDNF 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	embryo	MP:0005380	10.03	ADM KIF1B MAX MEN1 NF1 RET
6	hematopoietic system	MP:0005397	10.02	ADM GDNF NF1 RET SDHB SDHC
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

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

(show top 50) (show all 167)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Doxazosin

Approved

Phase 4,Phase 3

74191-85-8

3157

Phenoxybenzamine

Approved

Phase 4,Phase 3,Phase 2

59-96-1

4768

Adrenergic Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Adrenergic alpha-1 Receptor Antagonists

Phase 4,Phase 3

Antihypertensive Agents

Phase 4,Phase 3,Phase 2

Adrenergic alpha-Antagonists

Phase 4,Phase 3,Phase 2

Vasodilator Agents

Phase 4,Phase 3,Phase 2

Adrenergic Antagonists

Phase 4,Phase 3,Phase 2

Somatostatin

Approved, Investigational

Phase 2, Phase 3,Phase 1

38916-34-6, 51110-01-1

53481605

Lenograstim

Approved, Investigational

Phase 3

135968-09-1

Mechlorethamine

Approved, Investigational

Phase 3

51-75-2

4033

Ifosfamide

Approved

Phase 3

3778-73-2

3690

Doxorubicin

Approved, Investigational

Phase 3,Phase 2

23214-92-8

31703

Doxil

Approved June 1999

Phase 3,Phase 2

31703

3-Iodobenzylguanidine

Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Radiopharmaceuticals

Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Antineoplastic Agents, Alkylating

Phase 3,Phase 2,Phase 1

Antibiotics, Antitubercular

Phase 3,Phase 2,Phase 1

Alkylating Agents

Phase 3,Phase 2,Phase 1

Anti-Bacterial Agents

Phase 3,Phase 2,Phase 1

Isophosphamide mustard

Phase 3

Topoisomerase Inhibitors

Phase 3,Phase 2

Indinavir

Approved

Phase 2

150378-17-9

5362440

Ritonavir

Approved, Investigational

Phase 2

155213-67-5

392622

Parathyroid hormone

Approved, Investigational

Phase 2

9002-64-6

Epinephrine

Approved, Vet_approved

Phase 2,Not Applicable

51-43-4

5816

Racepinephrine

Approved

Phase 2,Not Applicable

329-65-7

838

Carbidopa

Approved

Phase 2

28860-95-9

34359

Methylprednisolone hemisuccinate

Approved

Phase 2

2921-57-5

Prednisolone phosphate

Approved, Vet_approved

Phase 2

302-25-0

Prednisolone

Approved, Vet_approved

Phase 2

50-24-8

5755

Methylprednisolone

Approved, Vet_approved

Phase 2

83-43-2

6741

Iodine

Approved, Investigational

Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1

7553-56-2

807

Sirolimus

Approved, Investigational

Phase 2,Phase 1

53123-88-9

46835353 5284616 6436030

Everolimus

Approved

Phase 2,Phase 1

159351-69-6

70789204 6442177

Miconazole

Approved, Investigational, Vet_approved

Phase 2,Phase 1

22916-47-8

4189

Sodium Citrate

Approved, Investigational

Phase 2

68-04-2

Cisplatin

Approved

Phase 2

15663-27-1

2767 441203 84093

Tamoxifen

Approved

Phase 2

10540-29-1

2733526

Pancrelipase

Approved, Investigational

Phase 2,Not Applicable

53608-75-6

Melphalan

Approved

Phase 2

148-82-3

460612 4053

Capecitabine

Approved, Investigational

Phase 2,Phase 1

154361-50-9

60953

Temozolomide

Approved, Investigational

Phase 2,Phase 1

85622-93-1

5394

Octreotide

Approved, Investigational

Phase 1, Phase 2,Phase 2

83150-76-9

6400441 383414

Axitinib

Approved, Investigational

Phase 2

319460-85-0

6450551

Sunitinib

Approved, Investigational

Phase 2

557795-19-4, 341031-54-7

5329102

Lenvatinib

Approved, Investigational

Phase 2

417716-92-8

Azacitidine

Approved, Investigational

Phase 2

320-67-2

9444

Ipilimumab

Approved

Phase 2

477202-00-9

Interventional clinical trials:

(show top 50) (show all 94)

#	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	A Phase II Study of 131I- Metaiodobenzylguanidine (MIBG) for Treatment of Metastatic or Unresectable Pheochromocytoma and Related Tumors	Completed	NCT01413503	Phase 2
14	RAD001 in Pheochromocytoma or Nonfunctioning Carcinoid	Completed	NCT01152827	Phase 2	RAD001
15	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
16	Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors	Completed	NCT00002608	Phase 2	cisplatin;doxorubicin hydrochloride;tamoxifen citrate
17	Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer	Completed	NCT00096083	Phase 2	isolated perfusion;melphalan
18	Capecitabine and Temozolomide for Neuroendocrine Cancers	Completed	NCT00869050	Phase 2	Capecitabine;Temozolomide
19	RAD001 and Erlotinib in Patients With Neuroendocrine Tumors	Completed	NCT00843531	Phase 2	RAD001;erlotinib
20	Phase II Study of Vandetanib in Individuals With Kidney Cancer	Completed	NCT00566995	Phase 2	ZACTIMA (Vandetanib) (ZD6474)
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	Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Pheochromocytoma/Paraganglioma	Recruiting	NCT03839498	Phase 2	Axitinib
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;F-18-FDG;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	Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma	Active, not recruiting	NCT00843037	Phase 2	Sunitinib
34	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)
35	A Study Evaluating Ultratrace Iobenguane I131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma	Active, not recruiting	NCT00874614	Phase 2
36	Dovitinib in Neuroendocrine Tumors	Active, not recruiting	NCT01635907	Phase 2	Dovitinib
37	Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors	Active, not recruiting	NCT01967537	Phase 2	68Gallium DOTATATE
38	LAnreotide in Metastatic Pheochromocytoma / PARAganglioma (LAMPARA)	Not yet recruiting	NCT03946527	Phase 2	Lanreotide
39	Dosimetry Guided PRRT With 177Lu-DOTATATE in Children	Not yet recruiting	NCT03923257	Phase 1, Phase 2	177Lu-DOTA-tyr3-OCTREOTATE
40	Pazopanib Hydrochloride in Treating Patients With Advanced or Progressive Malignant Pheochromocytoma or Paraganglioma	Terminated	NCT01340794	Phase 2	Pazopanib Hydrochloride
41	Internal Radiation Therapy in Treating Patients With Liver Metastases From Neuroendocrine Tumors	Terminated	NCT00466856	Phase 2	octreotide acetate
42	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery	Withdrawn	NCT00770705	Phase 2	Phenoxybenzamine
43	ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma, Paraganglioma, or Metastatic Carcinoid	Completed	NCT00339131	Phase 1	Ultratrace iobenguane I 131
44	Radiolabeled Octreotide in Treating Children With Advanced or Refractory Solid Tumors	Completed	NCT00049023	Phase 1
45	Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid Tumors	Completed	NCT01155258	Phase 1	temsirolimus;vinorelbine ditartrate
46	Everolimus and Vatalanib in Treating Patients With Advanced Solid Tumors	Completed	NCT00655655	Phase 1	everolimus;vatalanib
47	Oxaliplatin With Or Without Floxuridine and Leucovorin in Treating Patients With Metastatic Cancer of the Peritoneum	Completed	NCT00005860	Phase 1	floxuridine;leucovorin calcium;oxaliplatin
48	Diagnosis of Pheochromocytoma	Recruiting	NCT00004847	Phase 1	Fluorodopamine;F-18 Fluorodopa
49	Indium In 111 Pentetreotide in Treating Patients With Refractory Cancer	Terminated	NCT00002947	Phase 1
50	Phase I Trial of Vandetanib Combined With 131I-mIBG to Treat Patients With Advanced Phaeochromocytoma and Paraganglioma	Withdrawn	NCT01941849	Phase 1	Vandetanib

Search NIH Clinical Center for Pheochromocytoma

Inferred drug relations via UMLS ⁷⁴ / NDF-RT ⁵² :

metyrosine

phenoxybenzamine

phenoxybenzamine hydrochloride

propranolol

propranolol hydrochloride

Cochrane evidence based reviews: pheochromocytoma

Sources

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

#	Genetic test	Affiliating Genes
1	Pheochromocytoma ³⁰	GDNF KIF1B MAX RET SDHB SDHD TMEM127 VHL

Sources

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

⁴²

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

Sources

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

(show top 50) (show all 3889)

#	Title	Authors	Year
1	Commentary on an Acute Care Surgery Challenge: Abdominal Aortic Aneurysm and Pheochromocytoma. ( 30629010 )	Sise MJ	2019
2	Pheochromocytoma-related cardiomyopathy presenting as broken heart syndrome: Case report and literature review. ( 30641325 )	Diaz B...Hai S	2019
3	Renal infarction associated with extra-adrenal pheochromocytoma. ( 30851287 )	Yang C...Chen X	2019
4	Occult extra-adrenal pheochromocytoma in the urinary bladder. ( 30852507 )	Chan VSH...Lam WWM	2019
5	Thunderclap Headache and Cerebral Vasoconstriction Secondary to Pheochromocytoma. ( 30801609 )	English SW...Nasr DM	2019
6	Impact of Extrinsic and Intrinsic Hypoxia on Catecholamine Biosynthesis in Absence or Presence of Hif2α in Pheochromocytoma Cells. ( 31035382 )	Bechmann N...Eisenhofer G	2019
7	Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study. ( 30715419 )	Hescot S...European Network for the Study of Adrenal Tumors (ENS@T)	2019
8	Expression of PDK1 in malignant pheochromocytoma as a new promising potential therapeutic target. ( 30759304 )	Zhang X...Yu Z	2019
9	Prognostic Factors of Malignant Pheochromocytoma and Paraganglioma: A Combined SEER and TCGA Databases Review. ( 30919391 )	Mei L...Boikos S	2019
10	Correction: Prognostic Factors of Malignant Pheochromocytoma and Paraganglioma: A Combined SEER and TCGA Databases Review. ( 30986868 )	Mei L...Boikos S	2019
11	Anti-tumor effects and potential therapeutic response biomarkers in α-emitting meta-211At-astato-benzylguanidine therapy for malignant pheochromocytoma explored by RNA-sequencing. ( 31037122 )	Ohshima Y...Arakawa K	2019
12	Preclinical Evaluation of the Acute Radiotoxicity of the α-Emitting Molecular-Targeted Therapeutic Agent 211At-MABG for the Treatment of Malignant Pheochromocytoma in Normal Mice. ( 31078058 )	Sudo H...Higashi T	2019
13	Incidence and predictive factors of hypoglycemia after pheochromocytoma resection. ( 30467902 )	Araki S...Fujii Y	2019
14	Pheochromocytoma presenting with severe hyperglycemia and metabolic acidosis following intra-articular glucocorticoid administration: a case report. ( 30609924 )	Tomoyasu M...Hirano T	2019
15	Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. ( 30113649 )	Makri A...Lodish M	2019
16	Impact of 123 I-MIBG scintigraphy on clinical decision making in pheochromocytoma and paraganglioma. ( 30822354 )	Rao D...Timmers HJLM	2019
17	Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma. ( 30854332 )	Jha A...Pacak K	2019
18	Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. ( 30877234 )	Ben Aim L...Burnichon N	2019
19	Metastatic pheochromocytoma and paraganglioma: recent advances in prognosis and management. ( 30893083 )	Hamidi O	2019
20	Genotype-phenotype correlations in pheochromocytoma and paraganglioma. ( 30893643 )	Crona J...Pacak K	2019
21	FGF21 Levels in Pheochromocytoma/Functional Paraganglioma. ( 30959789 )	Kl?mov? J...Petr?k O	2019
22	The role of 68Ga-DOTA-Octreotate (GaTate) PET/CT in follow-up of SDH-associated pheochromocytoma and paraganglioma (PPGL). ( 30977831 )	Kong G...Hicks RJ	2019
23	A Previously Unrecognized Monocytic Component of Pheochromocytoma and Paraganglioma. ( 31001800 )	Farhat NA...Tischler AS	2019
24	Blood Pressure Profile, Catecholamine Phenotype and Target Organ Damage in Pheochromocytoma/Paraganglioma. ( 31009053 )	Petr?k O...Zelinka T	2019
25	Chromogranin A in the Laboratory Diagnosis of Pheochromocytoma and Paraganglioma. ( 31027285 )	B?lek R...Zelinka T	2019
26	Analysis of Short-term Blood Pressure Variability in Pheochromocytoma/Paraganglioma Patients. ( 31083609 )	Bisogni V...Letizia C	2019
27	SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center. ( 31104306 )	Donato S...Leite V	2019
28	A phase 2 trial of sunitinib in patients with progressive paraganglioma or pheochromocytoma: the SNIPP trial. ( 31105270 )	O'Kane GM...Knox JJ	2019
29	A phase I clinical trial for [131I]meta-iodobenzylguanidine therapy in patients with refractory pheochromocytoma and paraganglioma. ( 31110198 )	Wakabayashi H...Kinuya S	2019
30	Performance of 68Ga-DOTA-Conjugated Somatostatin Receptor-Targeting Peptide PET in Detection of Pheochromocytoma and Paraganglioma: A Systematic Review and Metaanalysis. ( 30030341 )	Han S...Lee JJ	2019
31	Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. ( 30050099 )	Richter S...Klink B	2019
32	Current status of functional imaging in neuroblastoma, pheochromocytoma, and paraganglioma disease. ( 30182289 )	Kroiss AS	2019
33	Efficacy and Safety of High-Specific-Activity 131I-MIBG Therapy in Patients with Advanced Pheochromocytoma or Paraganglioma. ( 30291194 )	Pryma DA...Jimenez C	2019
34	Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma. ( 30301828 )	Job S...Gimenez-Roqueplo AP	2019
35	Retroperitoneal paraganglioma: a chameleon masquerading as an adrenal pheochromocytoma. ( 30371110 )	Parmar K...Kumar S	2019
36	Regarding: A clinical prediction model to estimate the metastatic potential of pheochromocytoma/paraganglioma: ASES score. ( 30409407 )	Mattoo S...Chand G	2019
37	Molecular Profiling of Pheochromocytoma and Abdominal Paraganglioma Stratified by the PASS Algorithm Reveals Chromogranin B as Associated With Histologic Prediction of Malignant Behavior. ( 30451732 )	Stenman A...Juhlin CC	2019
38	Pheochromocytoma and paraganglioma-an update on diagnosis, evaluation, and management. ( 30603807 )	Jain A...Kapur G	2019
39	68Ga-DOTATOC PET/CT in the localization of metastatic extra-adrenal paraganglioma and pheochromocytoma compared with 18F-DOPA PET/CT. ( 30630744 )	Kroiss AS...Virgolini IJ	2019
40	Reply to letter to editor regarding: "A clinical prediction model to estimate the metastatic potential of Pheochromocytoma/paraganglioma: ASES score". ( 30686514 )	Cho YY...Lee SH	2019
41	Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma. ( 30698717 )	Buffet A...French Group of Endocrine Tumors (GTE) and COMETE Network	2019
42	Efficacy and Safety of Ablative Therapy in the Treatment of Patients with Metastatic Pheochromocytoma and Paraganglioma. ( 30736463 )	Kohlenberg J...Young W	2019
43	Clinical profiles of patients with surgically resected pheochromocytoma and paraganglioma. ( 30808127 )	Lee SH...Seong IW	2019
44	DOGMA IS MADE TO BE BROKEN. WHY ARE WE POSTPONING CURATIVE SURGERY TO ADMINISTER INEFFECTIVE ALPHA ADRENORECEPTOR BLOCKADE IN MOST PATIENTS UNDERGOING PHEOCHROMOCYTOMA REMOVAL? ( 30817194 )	Lentschener C...Gaujoux S	2019
45	A NECESSITY, NOT A SECOND THOUGHT: PRE-OPERATIVE ALPHA-ADRENOCEPTOR BLOCKADE IN PHEOCHROMOCYTOMA PATIENTS. ( 30817195 )	Santos JRU...Pacak K	2019
46	Severe hemodynamic instability during elective surgery for a patient with a giant pheochromocytoma: A case report. ( 30831508 )	Hu JY...Lau WY	2019
47	The Investigation into the Toxic Potential of Iron Oxide Nanoparticles Utilizing Rat Pheochromocytoma and Human Neural Stem Cells. ( 30889833 )	Ma W...Suh WH	2019
48	Bidirectional ventricular tachycardia in ACTH-producing pheochromocytoma. ( 30897623 )	Quina-Rodrigues C...Matta-Coelho C	2019
49	Pheochromocytoma triggers takotsubo syndrome. ( 30903176 )	Ghadri JR...Templin C	2019
50	Pheochromocytoma: 20 years of improving surgical care. ( 30922520 )	Worrest TC...Sheppard BC	2019

Sources

Genes for Pheochromocytoma

Genes related to Pheochromocytoma (8 elite genes):

(show top 50) (show all 70)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MAX	MYC Associated Factor X	Protein Coding	1431.68	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ Risk factor ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	21685915 20301715 24893135 (more) 24493721 24319509 7791753
2	TMEM127	Transmembrane Protein 127	Protein Coding	1421.74	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ Risk factor ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	16266984 20154675 20301715 (more) 24893135 24493721 24319509
3	RET	Ret Proto-Oncogene	Protein Coding	1383.2	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Risk factor ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	3078962 7907913 8099202 (more) 12000816 20301715 24893135 24493721 24319509 7915165 9506724 16118333 15870131 7914213 7824936 7849700 8757765 10522989 12466368 2904651 17898100 2660074 7906417 7906866 7977365 8782503 7845675 7536460 9620546 9111993 8912182 14739491 10953992 9761126 19551609 10998441 8561803 8732460 14557473 10522989 7852530 8810737 8835594 7608256 17102110 17102081 16388093 7627271 16767674 7616358 11103773 10049754 8825918 8695346 15233556 7889627 17466010 16787982 10728700 15837122 11134110 9167962 18063059 17102076 11308996 8592333 1701232 15883705 15875728 12139916 12000816 11821960 12584999 9215674 7943181 8964826 9478934 11404820 15292360 16098460 16525712 15988378 15168351 12686527 11818530 11016655 9703361 9018112 8768845 14500403 10926325 10487688 10426588 10640177 9000574 8734283 18726616 17970769 8556059 18317952 18436022 17898100 15355445 11740055 11182843 10878547 9179691 16728571 16098468 15827098 10915008 10526879 10691056 9284737 8755580 8550789 8570194 20514823 7563486 19763184 19215943 18551016 17102082 15592804 15832076 17102091 16707008 15452453 12928344
4	SDHB	Succinate Dehydrogenase Complex Iron Sulfur Subunit B	Protein Coding	1370.08	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11404820 20301715 24893135 (more) 24493721 24319509 12000816 14685938 12213855 21173220 17308434 19576851 12618761 19215943 15505628 16317055 17102093 11404820 14500403 14974914 17102089 19802898 17102081 18382370 14674304 15473885 16405730 18551016 17102086 20071235 12351569 16954163 20236688 16288654 12364472 12000816 18419787 16728571 17298303 17102076 19522823 12928344 15788647 19849834 15988378 18310297 19389109 17159241 16735973 16249420 15371856 19550080 20398431 19399650 19546167 19522821 14557473 12381538 18510707 18519664 17514588 17373214 17102110 14708972 12467161 19208735 19261679 18728283 17652212 17525480 17102085 17102077 16735498 20205103 19184535 19573790 19233206 18362451 17943698 17102079 16103922 15883710 15883705 14974911 17102069 16357557 16098468 15476441 14685938 20514823 19763184 19145771 17636259 17102084 17102078 16699302 15987702 15832076 15064708 12362046 20503330 20498024 19949549 18057081 17634472 18978332 16472267 15328326 20379037
5	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	1365.21	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9663592 20301715 24893135 (more) 24493721 24319509 12000816 12673678 19215943 15883705 17102081 9156047 8730290 17680521 14674304 12500216 19649731 11331612 19228690 16869749 11257110 18039096 17102089 14974911 12510195 17102093 16787982 7563486 19399650 16954163 11850829 12584999 16098460 8768845 10514498 7660122 16357557 16098468 14726398 14557473 10915008 7670659 17102110 16483185 20514823 20236688 18297059 17525480 16735498 16506218 11526493 11308996 20205103 16103922 12618761 12000816 18001193 16452212 16673284 19763184 19223516 18551016 15832076 15662588 14500403 15452453 12928344 20454689 11818530 14767570 15988378 16472267 17255293 18584357
6	SDHD	Succinate Dehydrogenase Complex Subunit D	Protein Coding	1359.22	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20301715 24893135 24493721 (more) 24319509 12000816 20065170 20816580 23788249 25394175 25356965 27854360 10657297 11156372 11343322 11391796 11897817 12811540 21348866 15774781 11397905 17308434 19215943 11156372 11323050 16317055 14674304 19576851 19318336 17102081 15788647 17102086 17576205 19546167 20071235 12928344 12618761 12007193 12000816 16728571 17102093 16787982 12467161 17526943 14500403 19802898 14974914 17102076 16249420 12351569 19399650 11404820 15883706 15328326 16472267 18362451 17102089 17102079 16288654 15883710 15883705 14974911 12883710 12381538 20236688 19584903 19261994 18350500 17102077 16735498 15365827 11308996 20205103 19233206 18211978 19411806 18510707 18519664 17298303 17102110 16405730 20514823 19956719 19368708 14557473 18551016 17636259 16954163 15832076 15064708 19522823 16735973 16741618 19522821 15473885 20379037 19072999 16098460 16001332 15746863
7	GDNF	Glial Cell Derived Neurotrophic Factor	Protein Coding	694.71	Molecular basis known ⁵⁸ Genetic Tests ³⁰ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	9215674 9000574 12139916 (more) 15572029 19551609
8	KIF1B	Kinesin Family Member 1B	Protein Coding	668.3	Molecular basis known ⁵⁸ Genetic Tests ³⁰ Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	18334619 18726616 20301715 (more) 24893135 24493721 24319509
9	H19	H19 Imprinted Maternally Expressed Transcript	RNA Gene	154.02	Experimental evidence: Mutation ⁴⁰ Novoseek inferred ⁵⁶	21937622 7531713 15788647 (more) 9177379
10	MEG3	Maternally Expressed 3	RNA Gene	150	Experimental evidence: Regulation ⁴⁰	15798773
11	SDHC	Succinate Dehydrogenase Complex Subunit C	Protein Coding	47.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Variants (show sections)	16249420 16405730 19576851 (more) 17102086 18212813 19546167 17102093 17102081 14974914 20071235 11404820 16735973 15064708 17636259 19233206 17102089 14674304 19368708 15883704 12381538 19411806 18519664 12467161 20236688 17102077 16735498 16322339 19522823 16001332 19522821 15473885 17557926 16098460
12	ADM	Adrenomedullin	Protein Coding	43.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Expressions (show sections)	15850005 9487993 17102095 (more) 9043763 7794284 11440275 7745031 16178438 8048921 8387282 9880077 9793067 7688224 7648399 12757657 7999032 8817157 8931633 9281444 9625320 9768331 9832468 10334959 10429523 10714887 11754955 11921351 12897063 15047974 15609075 16769769 19428768 7830499 7968246 7960020 20515777 16583314 15050005 11747138 11743958 11149123 7713143 7854153 7690563 17584073 17100569 16616959 16112409 15711093 11921358 16709226 16153719 16221100 15459126 15206165 12228854 11321465 10822233 10795919 7962564 8131850 10575297 17952853 16787197 15192039 11921362 11754956 11459117 11431158 11318031 10899511 9927317 9165056 8951571 7925955 10352550 9854455 9551407 9353797 9054852 9051359 8817009 8699935 11754965 10068849 9480840 9008630 8977434 8994515 8619827 8613221 11032871 10708720 9822453 9788655 9768783 9124405 9052844 9038592
13	SDHA	Succinate Dehydrogenase Complex Flavoprotein Subunit A	Protein Coding	42.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Variants (show sections)	16288654
14	CHGB	Chromogranin B	Protein Coding	38.61	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Expressions (show sections)	1882087 15601318 9037129 (more) 1437706 17639059 18046660 18448176 1288369
15	NGF	Nerve Growth Factor	Protein Coding	36.93	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	20155803 16296925 1702431 (more) 11288140 12518248 2160599 1849459 8288573 8158122 8087425 7657647 8928618 8780012 9236224 9379491 9362238 9395290 9722618 9729268 11150318 12747676 16168523 2186928 16539686 16869749 17551831 2142163 1964179 1400471 8386338 7508936 7853161 1362425 19275890 18781386 16192303 15522750 10803465 9850936 9690739 8106419 8347595 8429920 1319464 1309569 17942717 15333418 14997018 11741513 1386920 1714494 2114014 17117469 16248892 12542335 11266466 9524088 9495549 2167354 2157719 17455298 15737742 12221279 11463361 7865886 2071585 12629168 12578120 10727719 9765511 8951668 7530294 10788420 10686343 10355295 10187854 9278531 9051786 8826527 7559442 9482241 9084409 7493405 7782316 8217523 1400478 1716348 1828150 7937773 7964281 7816640 9030249 9561567 10777212 10878809 11150315 16817227 17624931 18367547
16	SDHAF2	Succinate Dehydrogenase Complex Assembly Factor 2	Protein Coding	35.71	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
17	CHGA	Chromogranin A	Protein Coding	35.32	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	15850005 1988765 16918946 (more) 11116123 7586587 2189303 18046660 11237384 18271679 11438617 16033058 9228469 8175970 17043632 12584991 17538521 8354485 19370504 1437706 9037129 11762357 2316306 11259096 10235638 8611427 16188147 12746566 7723281 14616890 9658190 12530264 16421420 12584998 12446227 11436202 8996358 8394383 1508327 19017755 17468193 16543673 15601318 9253344 2222401 12771991 10197763 18448176 10974931 1986917 2040871 2188235 9693933
18	NF1	Neurofibromin 1	Protein Coding	33.42	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11396074 17647146 11904334 (more) 7542904 16394087 16027147 11404820 20154675 19215943 20514823 16787982 10915008 17525480 16735498 11308996 17102089 16098468 17102110 16861979 19763184 18726616 7519874 11129996 16098460
19	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	33.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11259096 10522989 1338081 (more) 7801842 1351314 7723281 15047974 7747607 7623612 2296192 1348292 11318031 19958926 1836071 9167955 18624279 7823766 7968246 15233556 17100569 7904611 7913021 9353797 10926325
20	MEN1	Menin 1	Protein Coding	32.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11058804 12668176 11786689 (more) 17893233 16735498
21	PNMT	Phenylethanolamine N-Methyltransferase	Protein Coding	32.33	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12746566 16047163 12651811 (more) 7967610 17102092 11344198 10604389 12573802 1353277 9578504 18317952 15168351 8885177 12508089 15968085 9461120
22	TH	Tyrosine Hydroxylase	Protein Coding	32.29	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	1678741 1353277 12651811 (more) 7602797 12573802 8590595 11344198 8913331 10393831 7523477 1967817 1359535 19558449 9843160 8621733 12788858 7931246 8101444 1360541 1832672 1976198 9461120 1969915 12675925 9753620 9578504 8666991 12508089 9228469 8144856 1975832 11912140 10514498 7908942 12746566 16047163
23	SYP	Synaptophysin	Protein Coding	21.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12584991 8358154 7723281 (more) 10974931 9692851 10818529 8405477 8380434 11967710 20154585 12530264 10657486
24	SST	Somatostatin	Protein Coding	20.68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9002775 1969422 7723281 (more) 17102116 1348292 8935599 10022452 19351607 7758234 11191675 9516858 12390337 19140390 1349024 17414885 12920656 15666847
25	NTRK1	Neurotrophic Receptor Tyrosine Kinase 1	Protein Coding	20.41	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	10217562 9425001 7508936 (more) 11027214 10187854 10617108 8156997 10679771 9461120 9681467 7582119
26	SCG2	Secretogranin II	Protein Coding	19.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17102121 8354485 10634410 (more) 7641727 18448176 8756552 15601318
27	DBH	Dopamine Beta-Hydroxylase	Protein Coding	19.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12651811 1353277 9578504 (more) 7602797 9639579 8144856 7525897 1686923 12508089 1508327 1693949 1344926 20504629
28	ENO2	Enolase 2	Protein Coding	19.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	2208039 12584991 8358154 (more) 7801842 8323631 10974931 10657486
29	NPY	Neuropeptide Y	Protein Coding	19.68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	7593641 10526260 17470513 (more) 7955545 8480474 2384052 15193976 10672908 11375294 2040871 2233767 2208039 7758234 1327637 12372699 7989494 1475406 10901366 18046660 9214397 9797201 7867591 15623622 1348292 9409033
30	SLC6A2	Solute Carrier Family 6 Member 2	Protein Coding	19.27	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17102094 16047163 19088695 (more) 12574193 17102108 9495547 10461891
31	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	19.04	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16954163 12368197
32	VIP	Vasoactive Intestinal Peptide	Protein Coding	18.97	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8354485 18663320 1300605 (more) 1348292 10657486 10784133 7905785 12573802 11303778 11795252
33	FH	Fumarate Hydratase	Protein Coding	18.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	15586379 15987702 14708972
34	CALCRL	Calcitonin Receptor Like Receptor	Protein Coding	18.53	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17102095 16178438
35	NGFR	Nerve Growth Factor Receptor	Protein Coding	18.33	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9681467 7763473 14673001 (more) 1964090
36	POMC	Proopiomelanocortin	Protein Coding	18.27	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	7921204 8921826 1283118 (more) 16202863 1424185 11134141 12768546 2174647 19351607
37	RAMP2	Receptor Activity Modifying Protein 2	Protein Coding	18.19	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17102095
38	EGF	Epidermal Growth Factor	Protein Coding	18.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	7937773 11150315 8288573 (more) 8087425 7657647 9379491 1384043 9625357 11288140 10749669 7686484 9044427 9712826 7689150 12774307 9425001 9866830 10470855 2312105
39	ADCYAP1	Adenylate Cyclase Activating Polypeptide 1	Protein Coding	17.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	2175177 7759058 12438166 (more) 10567198 18541665 18048093
40	CRH	Corticotropin Releasing Hormone	Protein Coding	16.81	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17039427 9003004 7921204 (more) 18480660 15251695 1283118 16855132 1348292 1969422 9449645 12768546 16523405 17194738 19351607 17102093
41	DDC	Dopa Decarboxylase	Protein Coding	16.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	1353277 7602797 9578504 (more) 8510497 1737055
42	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	16.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	2405002 2119851 15785859 (more) 18830027 2114014 10555165 8404639 9178036 16165275
43	VGF	VGF Nerve Growth Factor Inducible	Protein Coding	16.29	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9478934 1469059 9084409
44	CASP3	Caspase 3	Protein Coding	16.27	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	11880503
45	EGR1	Early Growth Response 1	Protein Coding	16.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	10604389 17102092
46	UTS2R	Urotensin 2 Receptor	Protein Coding	16.04	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16178439 17102097 17686550
47	PTPRF	Protein Tyrosine Phosphatase Receptor Type F	Protein Coding	15.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8253779 1486801 11121408 (more) 12045857 10657947
48	SSTR1	Somatostatin Receptor 1	Protein Coding	15.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	8132773
49	PENK	Proenkephalin	Protein Coding	15.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	7819329 8206338
50	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	15.8	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	9126327 11150315 7971989

Sources

Variations for Pheochromocytoma

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

⁷⁶ (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	rs876659329
29	SDHB	p.Ile127Asn	VAR_054381
30	SDHB	p.Arg230Cys	VAR_054383	rs138996609
31	SDHD	p.Pro81Leu	VAR_010038	rs80338844
32	SDHD	p.Asp92Tyr	VAR_010039	rs80338845
33	TMEM127	p.Val90Met	VAR_063595	rs121908823
34	TMEM127	p.Trp53Ser	VAR_072273	rs121908818
35	TMEM127	p.Asp70Asn	VAR_072274	rs121908819
36	TMEM127	p.Gly73Arg	VAR_072275	rs121908820
37	TMEM127	p.Arg94Trp	VAR_072276	rs121908824
38	TMEM127	p.Cys140Arg	VAR_072277	rs121908827
39	TMEM127	p.Cys140Tyr	VAR_072278	rs121908828
40	VHL	p.Ser68Trp	VAR_005675
41	VHL	p.Ser80Asn	VAR_005688	rs5030805
42	VHL	p.Gly93Cys	VAR_005703	rs5030808
43	VHL	p.Gly93Ser	VAR_005705	rs5030808
44	VHL	p.Tyr98His	VAR_005707	rs5030809
45	VHL	p.Phe119Leu	VAR_005728
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 2007)

#	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_003002.4(SDHD): c.129G> A (p.Trp43Ter)	single nucleotide variant	Pathogenic	rs104894308	GRCh37	Chromosome 11, 111958657: 111958657
42	SDHD	NM_003002.4(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 148)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location
1	COSM14283	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.491A>G	p.Q164R	3:10149814-10149814
2	COSM17662	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.492G>T	p.Q164H	3:10149815-10149815
3	COSM14320	VHL	thyroid,NS,carcinoma,medullary carcinoma	c.233A>T	p.N78I	3:10142080-10142080
4	COSM18097	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.482G>A	p.R161Q	3:10149805-10149805
5	COSM144972	VHL	adrenal gland,NS,pheochromocytoma,benign	c.245G>T	p.R82L	3:10142092-10142092
6	COSM14321	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.227T>A	p.F76Y	3:10142074-10142074
7	COSM144971	VHL	adrenal gland,NS,pheochromocytoma,benign	c.244C>G	p.R82G	3:10142091-10142091
8	COSM6444479	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.260T>C	p.V87A	3:10142107-10142107
9	COSM144975	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.475A>G	p.K159E	3:10149798-10149798
10	COSM100047	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.389T>G	p.V130G	3:10146562-10146562
11	COSM14311	VHL	adrenal gland,NS,pheochromocytoma,benign	c.499C>T	p.R167W	3:10149822-10149822
12	COSM17982	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.496G>T	p.V166F	3:10149819-10149819
13	COSM236660	VHL	adrenal gland,adrenal gland,pheochromocytoma,benign	c.250G>C	p.V84L	3:10142097-10142097
14	COSM17988	VHL	adrenal gland,NS,pheochromocytoma,benign	c.341-1G>T	p.?	3:10146513-10146513
15	COSM6444480	VHL	autonomic ganglia,abdomen,paraganglioma,benign	c.191G>C	p.R64P	3:10142038-10142038
16	COSM10654	TP53	thyroid,NS,carcinoma,medullary carcinoma	c.637C>T	p.R213*	17:7674894-7674894
17	COSM6956576	SMARCA4	thyroid,NS,carcinoma,medullary carcinoma	c.2120T>C	p.I707T	19:11008020-11008020
18	COSM29805	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1859G>C	p.C620S	10:43113655-43113655
19	COSM965	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2753T>C	p.M918T	10:43121968-43121968
20	COSM5945763	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1983C>T	p.H661H	10:43114583-43114583
21	COSM966	RET	adrenal gland,adrenal gland,pheochromocytoma,benign	c.1900T>C	p.C634R	10:43114500-43114500
22	COSM974	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1901G>A	p.C634Y	10:43114501-43114501
23	COSM3437784	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2206G>A	p.G736R	10:43116653-43116653
24	COSM5945762	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2249C>G	p.A750G	10:43116696-43116696
25	COSM249791	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1843G>A	p.E615K	10:43113639-43113639
26	COSM964	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1888T>C	p.C630R	10:43114488-43114488
27	COSM918118	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2038G>A	p.A680T	10:43114638-43114638
28	COSM29803	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1852T>C	p.C618R	10:43113648-43113648
29	COSM133167	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2647G>T	p.A883S	10:43120120-43120120
30	COSM959	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2627C>T	p.A876V	10:43120100-43120100
31	COSM29807	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1902C>T	p.C634C	10:43114502-43114502
32	COSM249789	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2117T>C	p.V706A	10:43114717-43114717
33	COSM249790	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2680G>A	p.G894S	10:43120153-43120153
34	COSM1237918	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1900T>A	p.C634S	10:43114500-43114500
35	COSM6005497	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1924G>A	p.V642I	10:43114524-43114524
36	COSM249792	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2041C>T	p.Q681*	10:43114641-43114641
37	COSM960	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2650G>A	p.E884K	10:43120123-43120123
38	COSM5945770	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2733T>G	p.G911G	10:43121948-43121948
39	COSM963	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2701G>A	p.E901K	10:43120174-43120174
40	COSM5945755	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2771T>C	p.F924S	10:43121986-43121986
41	COSM21338	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2304G>C	p.E768D	10:43118392-43118392
42	COSM5598719	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2137G>A	p.E713K	10:43116584-43116584
43	COSM975	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1902C>G	p.C634W	10:43114502-43114502
44	COSM5945761	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2256C>T	p.Y752Y	10:43116703-43116703
45	COSM29804	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1858T>C	p.C620R	10:43113654-43113654
46	COSM961	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2723G>A	p.R908K	10:43120196-43120196
47	COSM978	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1892A>G	p.D631G	10:43114492-43114492
48	COSM4170226	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1946C>T	p.S649L	10:43114546-43114546
49	COSM971	RET	thyroid,NS,carcinoma,medullary carcinoma	c.2296C>T	p.P766S	10:43118384-43118384
50	COSM29806	RET	thyroid,NS,carcinoma,medullary carcinoma	c.1888T>G	p.C630G	10:43114488-43114488

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

Search GEO for disease gene expression data for Pheochromocytoma.

Sources

Pathways for Pheochromocytoma

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 ³⁸ Show member pathways 2-Oxocarboxylic acid metabolism ³⁸ Biosynthesis of amino acids ³⁸ formaldehyde oxidation ¹	11.78	SDHA SDHB SDHC SDHD
3	Pyruvate metabolism and Citric Acid (TCA) cycle ⁶⁷ Show member pathways Citric acid cycle (TCA cycle) ⁶⁷ Interconversion of 2-oxoglutarate and 2-hydroxyglutarate ⁶⁷ NAD phosphorylation and dephosphorylation ¹ Pyruvate metabolism ⁶⁷ Regulation of pyruvate dehydrogenase (PDH) complex ⁶⁷ TCA Cycle ¹	11.37	SDHA SDHB SDHC SDHD
4	Citrate cycle (TCA cycle) ³⁸ Show member pathways pyruvate decarboxylation to acetyl CoA ¹ superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle ¹ TCA cycle ¹ TCA Cycle and Deficiency of Pyruvate Dehydrogenase complex (PDHc) ¹	10.94	SDHA SDHB SDHC SDHD

Sources

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	9.87	KIF1B SDHA SDHAF2 SDHB SDHC SDHD
2	dendrite	GO:0030425	9.65	KIF1B MAX NF1 NGF RET
3	axon	GO:0030424	9.46	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	respiratory electron transport chain	GO:0022904	9.54	SDHA SDHB
8	sympathetic nervous system development	GO:0048485	9.52	GDNF NF1
9	enteric nervous system development	GO:0048484	9.49	GDNF RET
10	G protein-coupled receptor internalization	GO:0002031	9.48	ADM CALCA
11	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	GO:2001241	9.46	NF1 RET
12	succinate metabolic process	GO:0006105	9.43	SDHA SDHB
13	peripheral nervous system development	GO:0007422	9.43	GDNF NF1 NGF
14	tricarboxylic acid cycle	GO:0006099	9.35	SDHA SDHAF2 SDHB SDHC SDHD
15	amylin receptor signaling pathway	GO:0097647	9.32	ADM CALCA
16	response to pain	GO:0048265	9.25	RET
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	8.96	SDHB SDHD
5	succinate dehydrogenase (ubiquinone) activity	GO:0008177	8.92	SDHA SDHB SDHC SDHD

Sources

Sources for Pheochromocytoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Pheochromocytoma (PCC)

Aliases & Classifications for Pheochromocytoma

MalaCards integrated aliases for Pheochromocytoma:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pheochromocytoma

Related Diseases for Pheochromocytoma

Diseases in the Pheochromocytoma family:

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

Graphical network of the top 20 diseases related to Pheochromocytoma:

Symptoms & Phenotypes for Pheochromocytoma

Human phenotypes related to Pheochromocytoma:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Pheochromocytoma:

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

MGI Mouse Phenotypes related to Pheochromocytoma:

Drugs & Therapeutics for Pheochromocytoma

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

Interventional clinical trials:

Inferred drug relations via UMLS 74 / NDF-RT 52 :

Cochrane evidence based reviews: pheochromocytoma

Genetic Tests for Pheochromocytoma

Genetic tests related to Pheochromocytoma:

Anatomical Context for Pheochromocytoma

MalaCards organs/tissues related to Pheochromocytoma:

Publications for Pheochromocytoma

Articles related to Pheochromocytoma:

Genes for Pheochromocytoma

Genes related to Pheochromocytoma (8 elite genes):

Variations for Pheochromocytoma

UniProtKB/Swiss-Prot genetic disease variations for Pheochromocytoma:

ClinVar genetic disease variations for Pheochromocytoma:

Cosmic variations for Pheochromocytoma:

Copy number variations for Pheochromocytoma from CNVD:

Expression for Pheochromocytoma

Pathways for Pheochromocytoma

Pathways related to Pheochromocytoma according to GeneCards Suite gene sharing:

GO Terms for Pheochromocytoma

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

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

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

Sources for Pheochromocytoma

Inferred drug relations via UMLS ⁷⁴ / NDF-RT ⁵² :