MCID: PHC013
MIFTS: 48

Phaeochromocytoma malady

Summaries for Phaeochromocytoma

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 A pheochromocytoma (from Greek phaios \"dark\", chroma \"color\", kytos \"cell\", -oma \"tumor\") or... more...

MalaCards: Phaeochromocytoma is related to paraganglioma and multiple endocrine neoplasia. 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 whole blood, brain and cortex, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Description from OMIM:47 171300

Aliases & Classifications for Phaeochromocytoma

Sources:
8Disease Ontology, 10DISEASES, 47OMIM
See all sources

Aliases & Descriptions:

phaeochromocytoma 8 10


External Ids:

Disease Ontology8 DOID:0050771
OMIM47 171300

Related Diseases for Phaeochromocytoma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma31.0SDHD, PNMT, RET, CHGB, CHGA, SCG2
2multiple endocrine neoplasia30.6SDHC, SDHB, SDHD, PNMT, RET, CHGB
3neurofibromatosis30.4SDHB, SDHD
4thyroid medullary carcinoma30.4RET, CHGB, CHGA, VHL
5ganglioneuroma30.3SCG2, CHGA, RET
6pheochromocytoma29.8VHL, RET, SDHD, SDHB
7carney triad29.8SDHD, SDHB, SDHC
8insulinoma29.8CHGA, SCG2
9cushing's syndrome10.2
10n syndrome10.2
11headache10.1
12neuroblastoma 110.1
13septic shock10.1
14familial medullary thyroid carcinoma10.0
15acute myocardial infarction10.0
16thunderclap headache10.0
17hypoxia10.0
18neuroblastoma 610.0
19neuroblastoma10.0SLC6A2
20hypertension10.0NPPC, PNMT
21hereditary paraganglioma-pheochromocytoma syndromes10.0SDHD, SDHAF2, SDHB, SDHC
22paraganglioma and gastric stromal sarcoma10.0SDHD, SDHB, SDHC
23glomus tumor10.0VHL, SDHD, SDHB
24carotid body tumor10.0SDHC, SDHB, SDHD
25paragangliomas 110.0CHGA, RET, SDHB
26hepatocellular carcinoma10.0HIC1
27familial colorectal cancer10.0SDHB, SDHD, RET, VHL
28multiple endocrine neoplasia type 2a10.0VHL, RET, SDHD, SDHB, SDHC
29adrenal adenoma10.0SDHC, SDHB, SDHD, CHGA, VHL
30pituitary tumors10.0CHGB, CHGA
31von hippel-lindau disease10.0VHL, RET, PNMT, SDHD, SDHB, SDHC
32wermer syndrome10.0VHL, CHGA, RET, SDHD, SDHB, SDHC
33hyperparathyroidism10.0CHGA, RET, SDHD, SDHB, SDHC
34hemangioma10.0VHL, RET, SDHD, SDHAF2, SDHB, SDHC
35chondroma10.0SDHD, SDHB, SDHC
36prostate cancer10.0TNFRSF10C, SCG2, CHGA, SDHC
37adenoma10.0VHL, TNFRSF10C, SCG2, CHGA, CHGB, RET
38neuroendocrine tumor10.0SCG2, CHGA, CHGB, RET, SLC6A2, SDHD
39breast cancer10.0VHL, TNFRSF10C, SNAI1, HIC1, SDHB, SDHC
40alzheimer's disease10.0SLC6A2, PNMT, CHGB, SCG2
41carcinoid syndrome10.0SCG2, CHGA, CHGB, RET, PNMT, SLC18A1
42stomach cancer10.0VHL, SNAI1, SDHB
43parathyroid adenoma10.0CHGA, CHGB, RET
44pituitary adenoma10.0RET, CHGB, CHGA, SCG2
45kidney cancer10.0VHL, NPPC, RET, SDHB, SDHC
46thyroid cancer10.0RET, CHGA
47adenocarcinoma10.0VHL, NPPC, SCG2, CHGA, CHGB, HIC1
48endocrine gland cancer10.0RET, CHGA
49colon cancer10.0TNFRSF10C
50melanoma10.0TNFRSF10C

Graphical network of the top 20 diseases related to Phaeochromocytoma:



Diseases related to phaeochromocytoma

Clinical Features for Phaeochromocytoma

Sources:
47OMIM
See all sources

Clinical features from OMIM:

171300

Drugs & Therapeutics for Phaeochromocytoma

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Phaeochromocytoma

Sources:
33MalaCards
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MalaCards organs/tissues related to Phaeochromocytoma:

33
Whole blood, Brain, Cortex, Retina, Spinal cord, Heart, Adipocyte, Thyroid, Adrenal gland, Breast, Skin, T cells, B cells, Dorsal root ganglion, Adrenal cortex, Pituitary

Animal Models for Phaeochromocytoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Phaeochromocytoma

Sources:
51PubMed
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Articles related to Phaeochromocytoma:

(show top 50)    (show all 535)
idTitleAuthorsYear
1
Plasma-free vs deconjugated metanephrines for diagnosis of phaeochromocytoma. (23461656)
2013
2
Systematic review of phaeochromocytoma in pregnancy. (23180595)
2013
3
Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma. (22544391)
2012
4
Prospective evaluation of a8Pa8,Ga-DOTA-NOC PET-CT in phaeochromocytoma and paraganglioma: preliminary results from a single centre study. (21971823)
2012
5
A comparison of the performance of a8Pa8,Ga-DOTATATE PET/CT and A^A^A^I-MIBG SPECT in the diagnosis and follow-up of phaeochromocytoma and paraganglioma. (22526961)
2012
6
Metachronous malignant composite phaeochromocytoma and pancreatic mucinous cystadenoma in a patient with neurofibromatosis type 1. (21233684)
2011
7
Metachronous occurrence of multifocal phaeochromocytoma. (21128018)
2011
8
An unusual presentation of phaeochromocytoma (case presentation). (21985776)
2011
9
Hypoglycaemia, phaeochromocytoma and features of acromegaly: a unifying diagnosis? (21075788)
2011
10
Urinary catecholamine and metadrenaline to creatinine ratios in dogs with a phaeochromocytoma. (20139380)
2010
11
Phaeochromocytoma-associated critical peripheral ischaemia. (20446956)
2010
12
Outcomes of minimally invasive surgery for phaeochromocytoma. (19566519)
2009
13
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes. (19522823)
2009
14
Cyclooxygenase-2 expression correlates with phaeochromocytoma malignancy: evidence for a Bcl-2-dependent mechanism. (17916073)
2007
15
Magnesium sulphate for phaeochromocytoma crisis. (17919224)
2007
16
Acute intermittent porphyria and phaeochromocytoma: shared features. (17660335)
2007
17
Chromogranin a expression in phaeochromocytomas associated with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (18046660)
2007
18
Hypertensive primary intraventricular hemorrhage due to a phaeochromocytoma. (16813639)
2006
19
Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma. (16916404)
2006
20
Cushing syndrome due to an adrenal phaeochromocytoma. (17180812)
2006
21
Undiagnosed phaeochromocytoma mimicking severe preeclampsia in a pregnant woman at term. (16798453)
2006
22
Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas. (15788647)
2005
23
Sporadic phaeochromocytoma in childhood: clinical and molecular variability. (16042317)
2005
24
Left atrial phaeochromocytoma. (15486108)
2004
25
Composite phaeochromocytoma with intratumoural metastatic squamous cell carcinoma. (14506975)
2003
26
Use of a 'hospital-at-home' service for patient optimization before resection of phaeochromocytoma. (12594154)
2003
27
Do catecholamines influence the level of plasma leptin in patients with phaeochromocytoma? (12371054)
2002
28
Management of malignant phaeochromocytoma. (12109835)
2002
29
Fatal form of phaeochromocytoma presenting as acute pyelonephritis. (11473562)
2001
30
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours. (11709729)
2001
31
Cushing's syndrome due to phaeochromocytoma secreting the precursors of adrenocorticotropin. (11134141)
2000
32
A case report of the use of magnesium sulphate during anaesthesia in a patient who had adrenalectomy for phaeochromocytoma. (11056784)
2000
33
Tumour size: the only predictive factor for 131I MIBG uptake in phaeochromocytoma and paraganglioma. (10353549)
1999
34
Composite phaeochromocytoma-ganglioneuroblastoma in a patient with multiple endocrine neoplasia type IIA. (9568520)
1998
35
Haemodynamic heterogeneity and treatment with the calcium channel blocker nicardipine during phaeochromocytoma surgery. (9809099)
1998
36
Chromogranin A and chromogranin B are sensitive circulating markers for phaeochromocytoma. (9037129)
1997
37
Phaeochromocytoma with central nervous system manifestations. (9409033)
1997
38
Phaeochromocytoma in pregnancy. (9006837)
1996
39
Anaesthetic management of a patient with von Hippel-Lindau disease: a combination of bilateral phaeochromocytoma and spinal cord haemangioblastoma. (8829941)
1996
40
Tolerance of laparoscopy for resection of phaeochromocytoma. (9014638)
1996
41
Potentiation by cadmium ion of ATP-evoked dopamine release in rat phaeochromocytoma cells. (8851516)
1996
42
Phaeochromocytoma diagnosis. (8579297)
1995
43
Phaeochromocytoma presenting acutely as severe cardiac failure. (7921568)
1994
44
Phaeochromocytoma in pregnancy. (8053642)
1994
45
Biochemical detection of phaeochromocytoma: should we still be measuring urinary HMMA? (8408698)
1993
46
Phaeochromocytoma. (8289975)
1993
47
Chromogranin A, secretogranin II and vasoactive intestinal peptide in phaeochromocytomas and ganglioneuromas. (8354485)
1993
48
Neuropeptide Y as a plasma marker for phaeochromocytoma, ganglioneuroblastoma and neuroblastoma. (1327637)
1992
49
Unexplained hypertension during induction of a patient with phaeochromocytoma. (1363492)
1992
50
Association of a phaeochromocytoma and cerebral gliosarcoma with neurofibromatosis. (4289271)
1967

Genetic Variations for Phaeochromocytoma

Expression for genes affiliated with Phaeochromocytoma

Sources:
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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG
See all sources

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

Sources:
11DrugBank, 45Novoseek, 29IUPHAR, 24HMDB, 50PharmGKB
See all sources

Compounds related to Phaeochromocytoma according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1UBIQUINONE-11110.8SDHD, SDHB, SDHC
22-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol1110.7SDHC, SDHD, SDHB
3fumarate45 1111.7SDHD, SDHB, SDHC, VHL
4iron-sulfur4510.7SDHC, SDHB, SDHD
5mibg4510.7SDHB, SDHD, SLC6A2, CHGA
6secretoneurin4510.7SCG2, CHGA, CHGB
7succinic acid29 11 2412.7SDHC, SDHB, SDHD
8ubiquinone4510.7SDHD, SDHB, SDHC
9normetanephrine45 2411.7CHGA, PNMT
10MMDA1110.7SLC18A1, SLC6A2
11alpha-ketoglutarate4510.7VHL, SDHB, EGLN3, EGLN2
12succinate4510.7RET, VHL, SDHD, SDHC, SDHB
13amine4510.6CHGA, SLC18A1, PNMT, SLC6A2
14nicotine45 50 29 1113.6PNMT, VHL, CHGA, SLC6A2
155-hydroxytryptamine4510.6PNMT, SCG2, CHGA, SLC6A2
16histidine4510.6VHL, CHGA, PNMT, SDHB
17Ephedra1110.6SLC6A2, SLC18A1
18iron45 2411.6VHL, SDHD, SDHB, SDHC, EGLN2
19epinephrine45 11 2412.6CHGA, PNMT, SLC6A2, SDHB
20sibutramine45 1111.6SLC6A2, PNMT
21catecholamine4510.6RET, PNMT, CHGA, SLC6A2, SDHB, SDHD
22histamine45 29 2412.6SCG2, SLC6A2, PNMT, CHGA, NPPC
23peptidylglycine4510.6CHGB, CHGA
24acetylcholine45 50 29 11 2414.5SCG2, SLC6A2, CHGA, NPPC, PNMT, SLC18A1
25dopamine45 29 11 2413.5PNMT, SCG2, SLC6A2, SLC18A1, SDHB, CHGA
26norepinephrine45 11 2412.5SDHB, SCG2, NPPC, SLC6A2, PNMT, CHGB
27mhpg4510.5SLC6A2, CHGA
28oxygen45 2411.5SDHB, SDHD, CHGA, MT-CO2, EGLN3, EGLN2
29vegf4510.5SDHC, SDHB, EGLN3, CHGA, VHL, SCG2
30reserpine45 29 1112.4SLC18A1, SLC6A2
31atp45 2911.4RET, CHGA, MT-CO2, SCG2, NPPC, SDHB
32forskolin45 50 1112.4NPPC
33glucose4510.4CHGA, SCG2, NPPC, VHL, SDHB, SLC6A2
34cysteine4510.4NPPC, SDHB, SLC6A2, RET, CHGA, SCG2
35tyrosine4510.3SCG2, NPPC, SDHB, SLC18A1, PNMT, RET
36oligonucleotide4510.3RET, CHGB, SLC6A2, VHL, CHGA
37dexamethasone45 50 29 1113.2PNMT, CHGB, SCG2, NPPC
38homovanillic acid45 2411.1SLC6A2, CHGA
39calcium45 50 11 2413.1SLC6A2, RET, CHGB, CHGA, SCG2, NPPC

GO Terms for genes affiliated with Phaeochromocytoma

Sources:
16Gene Ontology
See all sources

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:00609910.6SDHC, SDHD, SDHB
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:07145610.4EGLN3, EGLN2, VHL
6respiratory electron transport chainGO:02290410.4SDHD, SDHC, SDHB
7aerobic respirationGO:00906010.4SDHB, SDHC
8regulation of neuron apoptotic processGO:04352310.4EGLN2, EGLN3
9response to painGO:04826510.3SLC6A2, RET
10cellular metabolic processGO:04423710.1SDHD, SDHB, SDHC

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Phaeochromocytoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet