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, Adipocyte, Spinal cord, Breast, Skin, Retina, Dorsal root ganglion, Adrenal cortex, Cortex

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
Newer therapies in the operative management of phaeochromocytoma. (24083193)
2013
2
Bilateral Laparoscopic adrenalectomy due to a phaeochromocytoma in Von Hippel-Lindau Syndrome: a technique with 4 trocars. (22591617)
2012
3
Phaeochromocytoma -- a classic (but easily forgotten) cause of anxiety. (21687915)
2011
4
Investigating the function of an aldosterone response pathway in primary human adrenocortical cells obtained from Conn's and phaeochromocytoma patients. (21300056)
2011
5
Vasopressin for the treatment of catecholamine-resistant hypotension during a phaeochromocytoma resection in a 6-year-old child. (20498605)
2010
6
Composite adrenal phaeochromocytoma-ganglioneuroma causing watery diarrhoea, hypokalaemia and achlorhydria syndrome. (20216072)
2010
7
Novel and evolving therapies in the treatment of malignant phaeochromocytoma: experience with the mTOR inhibitor everolimus (RAD001). (19424940)
2009
8
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. (19576851)
2009
9
Phaeochromocytoma in a developing country. (19624649)
2009
10
Composite phaeochromocytoma with malignant peripheral nerve sheath tumour and rhabdomyosarcomatous differentiation in a patient without von Recklinghausen disease. (19561238)
2009
11
131I-MIBG therapy in metastatic phaeochromocytoma and paraganglioma. (18071700)
2008
12
Adrenergic blockade with phenoxybenzamine and propranolol in a cohort of 60 patients undergoing surgery for phaeochromocytoma. (18447966)
2008
13
Adrenal phaeochromocytoma: correlation of MRI appearances with histology and function. (18641999)
2008
14
Phaeochromocytoma combined with subclinical Cushing's syndrome and pituitary microadenoma. (18544281)
2008
15
D2-40 is a sensitive and specific marker in differentiating primary adrenal cortical tumours from both metastatic clear cell renal cell carcinoma and phaeochromocytoma. (17660332)
2008
16
Renal cell carcinoma in a von Hippel-Lindau syndrome: when should phaeochromocytoma be anticipated? (17657389)
2007
17
The effects of a mutant p53 protein on the proliferation and differentiation of PC12 rat phaeochromocytoma cells. (16817227)
2006
18
Preoperative pharmacological management of phaeochromocytoma. (16990692)
2006
19
Potential pitfalls in the diagnosis of phaeochromocytoma. (16138810)
2005
20
Phaeochromocytoma of the urinary bladder. (15968447)
2005
21
Diabetes mellitus as the only manifestation of occult phaeochromocytoma prior to acute haemorrhage in pregnancy. (15730379)
2005
22
Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. (16189177)
2005
23
Pitfalls in the diagnosis of phaeochromocytoma. (15016696)
2004
24
Emergency resection of an extra-adrenal phaeochromocytoma: wrong or right? A case report and a review of literature. (14628962)
2003
25
Phaeochromocytoma-- an unusual cause of fitting in pregnancy. (12751515)
2003
26
Malignant phaeochromocytoma metastasising to the breast. (12760464)
2003
27
Phaeochromocytoma unmasked by drug therapy. (14619898)
2003
28
An undiagnosed phaeochromocytoma of the urinary bladder. (12413271)
2002
29
Phaeochromocytoma and acute myocardial infarction. (11939446)
2002
30
Phaeochromocytoma in children. (12459603)
2002
31
Phaeochromocytoma by way of case reports. (12389065)
2002
32
SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation. (12362046)
2002
33
A case of giant malignant phaeochromocytoma. (11025856)
2000
34
Prolonged hypoglycaemia following surgical removal of phaeochromocytoma. (10622782)
2000
35
Adrenal-sparing surgery for phaeochromocytoma. (10027369)
1999
36
Cerebral aneurysm surgery in a patient with phaeochromocytoma. (9650000)
1998
37
Mitotane (o,p'-DDD) resistance in a dog with pituitary-dependent hyperadrenocorticism and phaeochromocytoma. (9578778)
1998
38
Prognostic value of RET proto-oncogene point mutations in malignant and benign, sporadic phaeochromocytomas. (9761126)
1998
39
An overview of anaesthetic issues in phaeochromocytoma. (10101561)
1998
40
Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas. (9000574)
1997
41
Expression and prognostic value of c-erbB-2 oncogene product in human phaeochromocytomas. (9279565)
1997
42
Multicentric giant cell tumour and phaeochromocytoma. (8826754)
1996
43
Influence of alpha-adrenergic blockade on ventricular arrhythmias, QTc interval and heart rate variability in phaeochromocytoma. (8583473)
1995
44
Phosphotyrosine residues in the nerve-growth-factor receptor (Trk-A). Their role in the activation of inositolphospholipid metabolism and protein kinase cascades in phaeochromocytoma (PC12) cells. (8529673)
1995
45
Phaeochromocytoma associated with myasthenia gravis precipitated by propranolol treatment. (7487700)
1995
46
Phaeochromocytoma. (7607843)
1995
47
Calcium channel blockade and uncontrolled blood pressure during phaeochromocytoma surgery. (7743576)
1995
48
Phaeochromocytoma and familial tumour syndromes. (7913426)
1994
49
Laboratory diagnosis of phaeochromocytoma: which analytes should we measure? (8466142)
1993
50
Malignant phaeochromocytoma and hypercalcaemia. (8446562)
1993

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
10.4SDHC, SDHB, SDHD
2
Hide members
10.4SDHC, SDHB, SDHD
310.4SDHC, SDHB, SDHD
4
Hide members
10.4SDHC, SDHB, SDHD
510.3VHL, EGLN2, EGLN3
610.3EGLN3, EGLN2, VHL
7
Hide members
10.3VHL, EGLN2, EGLN3
810.2RET, EGLN3, EGLN2, VHL
9
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10.2MT-CO2, SLC18A1, SDHD, SDHB, SDHC
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