MCID: PHC013
MIFTS: 49

Phaeochromocytoma malady

Summaries for Phaeochromocytoma

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 A pheochromocytoma (from Greek phaios \"dark\", chroma \"color\", kytos \"cell\", -oma \"tumor\") or... more...

MalaCards: Phaeochromocytoma is related to paraganglioma and hypertension. An important gene associated with Phaeochromocytoma is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are Glycolysis and gluconeogenesis (short map) and Citric acid cycle (TCA cycle). The compounds UBIQUINONE-1 and 2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, testes and thyroid, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Description from OMIM:46 171300

Aliases & Classifications for Phaeochromocytoma

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8Disease Ontology, 10DISEASES, 46OMIM
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Aliases & Descriptions:

phaeochromocytoma 8 10


External Ids:

Disease Ontology8 DOID:0050771
OMIM46 171300

Related Diseases for Phaeochromocytoma

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17GeneCards, 18GeneDecks
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Diseases related to Phaeochromocytoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma31.0VHL, SCG2, CHGA, CHGB, RET, PNMT
2hypertension30.7NPPC, PNMT
3neuroblastoma30.5SLC6A2
4neurofibromatosis30.4SDHB, SDHD
5von hippel-lindau disease30.3RET, PNMT, SDHD, VHL, SDHB, SDHC
6thyroid medullary carcinoma30.3CHGB, RET, VHL, CHGA
7ganglioneuroma30.3SCG2, CHGA, RET
8pheochromocytoma29.8VHL, RET, SDHB, SDHD
9hepatocellular carcinoma29.8HIC1
10insulinoma29.8CHGA, SCG2
11melanoma29.7TNFRSF10C
12thyroiditis10.3
13cushing's syndrome10.2
14malignant hypertension10.1
15myocardial infarction10.1
16renal cell carcinoma10.1
17cerebritis10.0
18familial medullary thyroid carcinoma10.0
19neuronitis10.0
20acute myocardial infarction10.0
21ganglioneuroblastoma10.0
22hereditary paraganglioma-pheochromocytoma syndromes10.0SDHC, SDHB, SDHAF2, SDHD
23paraganglioma and gastric stromal sarcoma10.0SDHD, SDHB, SDHC
24glomus tumor10.0VHL, SDHD, SDHB
25carotid body tumor10.0SDHC, SDHD, SDHB
26paragangliomas 110.0CHGA, RET, SDHB
27familial colorectal cancer10.0SDHB, SDHD, RET, VHL
28multiple endocrine neoplasia type 2a10.0SDHD, RET, VHL, SDHB, SDHC
29carney triad10.0SDHC, SDHD, SDHB
30adrenal adenoma10.0SDHC, SDHD, VHL, CHGA, SDHB
31pituitary tumors10.0CHGB, CHGA
32wermer syndrome10.0VHL, SDHD, SDHB, SDHC, CHGA, RET
33hyperparathyroidism10.0CHGA, SDHD, RET, SDHC, SDHB
34hemangioma10.0SDHC, SDHB, SDHAF2, SDHD, RET, VHL
35chondroma10.0SDHB, SDHC, SDHD
36prostate cancer10.0CHGA, SDHC, SCG2, TNFRSF10C
37adenoma10.0TNFRSF10C, RET, CHGB, CHGA, SCG2, VHL
38neuroendocrine tumor10.0CHGB, CHGA, RET, SLC6A2, SCG2, SDHD
39multiple endocrine neoplasia10.0RET, CHGB, CHGA, VHL, PNMT, SDHD
40breast cancer10.0SNAI1, SDHC, SDHB, HIC1, TNFRSF10C, VHL
41alzheimer's disease10.0SCG2, CHGB, SLC6A2, PNMT
42carcinoid syndrome10.0CHGB, SCG2, RET, SDHD, SLC18A1, CHGA
43stomach cancer10.0SNAI1, SDHB, VHL
44parathyroid adenoma10.0CHGA, CHGB, RET
45pituitary adenoma10.0CHGA, RET, SCG2, CHGB
46kidney cancer10.0SDHB, NPPC, RET, VHL, SDHC
47thyroid cancer10.0CHGA, RET
48adenocarcinoma10.0SCG2, CHGB, HIC1, CHGA, VHL, NPPC
49endocrine gland cancer10.0CHGA, RET
50colon cancer10.0TNFRSF10C

Graphical network of the top 20 diseases related to Phaeochromocytoma:



Diseases related to phaeochromocytoma

Clinical Features for Phaeochromocytoma

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46OMIM
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Clinical features from OMIM:

171300

Drugs & Therapeutics for Phaeochromocytoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Phaeochromocytoma

Drug clinical trials:

Search ClinicalTrials for Phaeochromocytoma

Search NIH Clinical Center for Phaeochromocytoma

Search CenterWatch for Phaeochromocytoma

Genetic Tests for Phaeochromocytoma

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Anatomical Context for Phaeochromocytoma

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32MalaCards
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MalaCards organs/tissues related to Phaeochromocytoma:

32
Adrenal gland, Testes, Thyroid, Heart, Pituitary, Adrenal cortex, Cortex, Retina, Breast, Adipocyte, Spinal cord, Skin, Dorsal root ganglion

Animal Models for Phaeochromocytoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Phaeochromocytoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4HIC1, EGLN3, EGLN2, NPPC
2MP:000537910.2VHL, NPPC, EGLN3, CHGA, CHGB, RET
3MP:000538510.2VHL, SNAI1, EGLN2, EGLN3, CHGA, RET
4MP:000538210.1VHL, NPPC, SNAI1, EGLN2, EGLN3, HIC1
5MP:000537610.1VHL, NPPC, EGLN2, EGLN3, CHGA, CHGB
6MP:000287310.1SNAI1, HIC1, RET, PNMT, SLC18A1, SDHD
7MP:00036319.8NPPC, SNAI1, EGLN3, CHGB, HIC1, RET
8MP:00053809.8VHL, SNAI1, EGLN2, EGLN3, HIC1, RET

Publications for Phaeochromocytoma

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50PubMed
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Articles related to Phaeochromocytoma:

(show top 50)    (show all 535)
idTitleAuthorsYear
1
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. (23551045)
2013
2
The role of urinary fractionated metanephrines in the diagnosis of phaeochromocytoma. (23563375)
2013
3
FDG PET in the evaluation of phaeochromocytoma: a correlative study with MIBG scintigraphy and Ki-67 proliferative index. (24035263)
2013
4
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. (23072324)
2013
5
Combined blockade of signalling pathways shows marked anti-tumour potential in phaeochromocytoma cell lines. (22715163)
2012
6
Scalp metastasis in a patient with phaeochromocytoma. (22298218)
2011
7
An elusive phaeochromocytoma. (21449869)
2011
8
When is a phaeo not a phaeo? Depression in an adolescent leading to a phaeochromocytoma-like biochemical profile. (21521331)
2011
9
Perioperative risk factors, morbidity, and outcome of 145 patients during phaeochromocytoma resection. (21954738)
2011
10
Phaeochromocytoma in the Hong Kong Chinese population. (20683066)
2010
11
Dosimetry for 131I-MIBG therapies in metastatic neuroblastoma, phaeochromocytoma and paraganglioma. (20179922)
2010
12
Cardiovascular flashlight. Phaeochromocytoma: delayed diagnosis with severe consequences. (20202972)
2010
13
Primary bladder phaeochromocytoma diagnosed by a vet. (20180653)
2010
14
Plasma free metanephrines are superior to urine and plasma catecholamines and urine catecholamine metabolites for the investigation of phaeochromocytoma. (19152190)
2009
15
Preclinical cardiac involvement in phaeochromocytoma: a study with integrated backscatter. (18031325)
2008
16
Additive effect of propofol for attenuation of hypertension in a patient with undiagnosed phaeochromocytoma. (18226278)
2008
17
Bilateral adrenal masses: phaeochromocytoma or melanoma? (16508056)
2006
18
Expression of the noradrenaline transporter and phenylethanolamine N-methyltransferase in normal human adrenal gland and phaeochromocytoma. (16047163)
2005
19
Consider von Hippel-Lindau syndrome in young patients presenting with retinal angioma and phaeochromocytoma. (16176477)
2005
20
More on phaeochromocytoma. (15951593)
2005
21
Diagnostic challenges associated with a complex case of cystic phaeochromocytoma presenting with malignant hypertension, microangiopathic haemolysis and acute renal failure. (15769821)
2005
22
Effects of perioperative alpha1 block on haemodynamic control during laparoscopic surgery for phaeochromocytoma. (14766711)
2004
23
Laparoscopic adrenalectomy for phaeochromocytoma: with caution. (15191473)
2004
24
Retrospective analysis of abnormal 24-h urinary free catecholamine concentration in screening for phaeochromocytoma. (12803844)
2003
25
Adrenal cortical phaeochromocytoma: a case report of a rare entity. (12746763)
2003
26
Treatment of metastatic carcinoid tumours, phaeochromocytoma, paraganglioma and medullary carcinoma of the thyroid with (131)I-meta-iodobenzylguanidine [(131)I-mIBG]. (11453952)
2001
27
Metastases of predominantly dopamine-secreting phaeochromocytoma that did not accumulate meta-iodobenzylguanidine: imaging with whole body positron emission tomography using 18F-labelled deoxyglucose. (11848244)
2001
28
Interleukin-6 (IL-6) producing phaeochromocytoma: direct IL-6 suppression by non-steroidal anti-inflammatory drugs. (11298095)
2001
29
Ion selectivities of the Ca(2+) sensors for exocytosis in rat phaeochromocytoma cells. (11410622)
2001
30
Phaeochromocytoma in two coatimundi (Nasua nasua). (11467608)
2001
31
Adrenal-sparing surgery for phaeochromocytoma. (10617359)
1999
32
Neurotrophins and neurotrophin receptors in some neural crest-derived tumours (ganglioneuroma, phaeochromocytoma and paraganglioma). (10217562)
1999
33
Cyclic AMP agonists increase levels of insulin-like growth factor (IGF) binding protein-6 in PC12 rat phaeochromocytoma cells. (10984315)
1998
34
Phaeochromocytoma and hypotension. (9612468)
1998
35
Extra-adrenal functional paraganglioma (phaeochromocytoma) associated with renal-artery stenosis in a pregnant woman. (9829502)
1998
36
Involvement of the inferior vena cava by adrenal phaeochromocytoma--MRI findings. (9166057)
1997
37
Retroperitoneal bronchogenic cyst masquerading clinically and radiologically as a phaeochromocytoma. (9247635)
1997
38
Ruptured phaeochromocytoma--a rare differential diagnosis of acute abdomen. (8783928)
1996
39
Selective venous catheterization and plasma catecholamine analysis in the diagnosis of phaeochromocytoma. (8676321)
1996
40
Coexistence of bilateral adrenal phaeochromocytoma and idiopathic hyperaldosteronism. (8762738)
1996
41
Postural palpitations--a curious presentation of intrathoracic phaeochromocytoma. (7502292)
1995
42
Synergistic differentiation by chronic exposure to cyclic AMP and nerve growth factor renders rat phaeochromocytoma PC12 cells totally dependent upon trophic support for survival. (7757262)
1995
43
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. (8825918)
1995
44
Assessment of adrenal surgery on creatinine clearance in patients with phaeochromocytoma. (7591566)
1995
45
Phaeochromocytoma--a laboratory experience. (7607841)
1995
46
Immunoreactivity to chromogranin and to vasoactive intestinal peptide in a canine phaeochromocytoma. (7836575)
1994
47
Phaeochromocytoma: diagnosis and management. (8016002)
1994
48
Treatment of malignant phaeochromocytoma, paraganglioma and carcinoid tumours with 131I-metaiodobenzylguanidine. (8233228)
1993
49
Multiple endocrine neoplasia presenting as phaeochromocytoma during pregnancy. (7905285)
1993
50
The incidence rate of phaeochromocytoma and Conn's syndrome in Denmark, 1977-1981. (3236322)
1988

Genetic Variations for Phaeochromocytoma

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Expression for genes affiliated with Phaeochromocytoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Phaeochromocytoma

Search GEO for disease gene expression data for Phaeochromocytoma.

Pathways for genes affiliated with Phaeochromocytoma

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG
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Pathways related to Phaeochromocytoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4SDHD, SDHB, SDHC
2
Hide members
10.4SDHB, SDHC, SDHD
310.4SDHC, SDHB, SDHD
4
Hide members
10.4SDHC, SDHB, SDHD
510.3EGLN3, VHL, EGLN2
610.3VHL, EGLN3, EGLN2
7
Hide members
10.3VHL, EGLN3, EGLN2
810.2EGLN3, EGLN2, RET, VHL
9
Hide members
10.2MT-CO2, SDHC, SDHB, SDHD, SLC18A1
10
Hide members
10.2EGLN3, EGLN2, SNAI1, VHL

Compounds for genes affiliated with Phaeochromocytoma

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11DrugBank, 44Novoseek, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Phaeochromocytoma according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1UBIQUINONE-11110.8SDHC, SDHB, SDHD
22-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.7SDHC, SDHB, SDHD
3fumarate44 1111.7SDHC, SDHB, SDHD, VHL
4succinic acid28 11 2412.7SDHD, SDHB, SDHC
5mibg4410.7CHGA, SLC6A2, SDHD, SDHB
6secretoneurin4410.7SCG2, CHGA, CHGB
7iron-sulfur4410.7SDHD, SDHB, SDHC
8ubiquinone4410.7SDHC, SDHB, SDHD
9normetanephrine44 2411.7PNMT, CHGA
10MMDA1110.7SLC18A1, SLC6A2
11alpha-ketoglutarate4410.7VHL, EGLN2, EGLN3, SDHB
12succinate4410.7VHL, RET, SDHD, SDHB, SDHC
13amine4410.6CHGA, PNMT, SLC6A2, SLC18A1
14nicotine44 49 28 1113.6VHL, CHGA, PNMT, SLC6A2
155-hydroxytryptamine4410.6SLC6A2, PNMT, CHGA, SCG2
16histidine4410.6VHL, CHGA, PNMT, SDHB
17Ephedra1110.6SLC6A2, SLC18A1
18iron44 2411.6VHL, EGLN2, SDHD, SDHB, SDHC
19epinephrine44 11 2412.6CHGA, PNMT, SLC6A2, SDHB
20sibutramine44 1111.6SLC6A2, PNMT
21catecholamine4410.6SDHB, CHGA, CHGB, RET, PNMT, SLC6A2
22histamine44 28 2412.6NPPC, SCG2, CHGA, PNMT, SLC6A2
23peptidylglycine4410.6CHGB, CHGA
24acetylcholine44 49 28 11 2414.5NPPC, SCG2, CHGA, PNMT, SLC6A2, SLC18A1
25dopamine44 28 11 2413.5SCG2, CHGA, CHGB, PNMT, SLC6A2, SLC18A1
26norepinephrine44 11 2412.5NPPC, SCG2, CHGA, CHGB, PNMT, SLC6A2
27mhpg4410.5SLC6A2, CHGA
28oxygen44 2411.5VHL, EGLN2, EGLN3, MT-CO2, CHGA, SDHD
29vegf4410.5VHL, SCG2, EGLN2, EGLN3, CHGA, RET
30reserpine44 28 1112.4SLC18A1, SLC6A2
31atp44 2811.4NPPC, SCG2, MT-CO2, CHGA, RET, SDHB
32forskolin44 49 1112.4NPPC
33glucose4410.4VHL, NPPC, SCG2, CHGA, SLC6A2, SDHB
34cysteine4410.4NPPC, SCG2, CHGA, RET, SLC6A2, SDHB
35tyrosine4410.3VHL, NPPC, SCG2, CHGA, CHGB, RET
36oligonucleotide4410.3VHL, CHGA, CHGB, RET, SLC6A2
37dexamethasone44 49 28 1113.2NPPC, SCG2, CHGB, PNMT
38homovanillic acid44 2411.1SLC6A2, CHGA
39calcium44 49 11 2413.1VHL, NPPC, SCG2, CHGA, CHGB, RET

GO Terms for genes affiliated with Phaeochromocytoma

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16Gene Ontology
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Cellular components related to Phaeochromocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:03014110.3CHGB, CHGA, SCG2
2mitochondrial respiratory chain complex IIGO:00574910.1SDHC, SDHB, SDHD

Biological processes related to Phaeochromocytoma according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1tricarboxylic acid cycleGO:00609910.6SDHD, SDHB, SDHC
2monoamine transportGO:01584410.5SLC18A1, SLC6A2
3regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.5EGLN3, EGLN2, VHL
4peptidyl-proline hydroxylation to 4-hydroxy-L-prolineGO:01840110.5EGLN3, EGLN2
5cellular response to hypoxiaGO:07145610.4VHL, EGLN2, EGLN3
6respiratory electron transport chainGO:02290410.4SDHC, SDHB, SDHD
7aerobic respirationGO:00906010.4SDHC, SDHB
8regulation of neuron apoptotic processGO:04352310.4EGLN3, EGLN2
9response to painGO:04826510.3RET, SLC6A2
10cellular metabolic processGO:04423710.1SDHC, SDHB, SDHD

Molecular functions related to Phaeochromocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptidyl-proline 4-dioxygenase activityGO:03154510.4EGLN3, EGLN2
2L-ascorbic acid bindingGO:03141810.4EGLN3, EGLN2
3ubiquinone bindingGO:04803910.3SDHB, SDHD
4monoamine transmembrane transporter activityGO:00850410.1SLC18A1, SLC6A2

Products for genes affiliated with Phaeochromocytoma

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Sources for Phaeochromocytoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet