MCID: SPR094
MIFTS: 37

Sporadic Pheochromocytoma

Categories: Endocrine diseases, Rare diseases, Genetic diseases, Cancer diseases

Aliases & Classifications for Sporadic Pheochromocytoma

MalaCards integrated aliases for Sporadic Pheochromocytoma:

Name: Sporadic Pheochromocytoma 59

Characteristics:

Orphanet epidemiological data:

59
sporadic pheochromocytoma
Inheritance: Not applicable;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA276624
ICD10 via Orphanet 34 C74.1 D35.0

Summaries for Sporadic Pheochromocytoma

MalaCards based summary : Sporadic Pheochromocytoma is related to pheochromocytoma and multiple endocrine neoplasia. An important gene associated with Sporadic Pheochromocytoma is EPAS1 (Endothelial PAS Domain Protein 1), and among its related pathways/superpathways are Pathways in cancer and Carbon metabolism. The drugs Norepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, testes and thyroid, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Sporadic Pheochromocytoma

Diseases in the Pheochromocytoma family:

Sporadic Pheochromocytoma

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 29.5 EPAS1 MAX NF1 RET SDHB SDHC
2 multiple endocrine neoplasia 28.8 NF1 RET SDHB SDHC VHL
3 von hippel-lindau syndrome 28.5 NF1 RET SDHB SDHC SDHD VHL
4 paraganglioma 28.2 MAX NF1 RET SDHB SDHC SDHD
5 benign struma ovarii 10.5 HRAS RET
6 malignant struma ovarii 10.4 HRAS RET
7 glomus tumor 10.4 SDHB SDHD
8 erythrocytosis, familial, 2 10.4 EPAS1 VHL
9 primary polycythemia 10.4 EPAS1 VHL
10 myelodysplastic myeloproliferative cancer 10.3 HRAS NF1
11 adenosquamous cell lung carcinoma 10.3 HRAS RET
12 vulvar melanoma 10.2 HRAS NF1
13 neural crest tumor 10.2 SDHB SDHC SDHD
14 paragangliomas 1 10.2 SDHB SDHC SDHD
15 extra-adrenal pheochromocytoma 10.2 SDHB SDHC SDHD
16 multiple endocrine neoplasia, type i 10.2 RET SDHB SDHD
17 chondroma 10.2 SDHB SDHC SDHD
18 paraganglioma and gastric stromal sarcoma 10.2 SDHB SDHC SDHD
19 carney triad 10.2 SDHB SDHC SDHD
20 leopard syndrome 10.2 HRAS NF1
21 lymph node disease 10.2 SDHB SDHC SDHD
22 mitochondrial complex ii deficiency 10.2 SDHB SDHC SDHD
23 lymphatic system disease 10.1 SDHB SDHC SDHD
24 pulmonic stenosis 10.1 HRAS NF1
25 renal oncocytoma 10.0 MAX SDHB
26 retinal hemangioblastoma 10.0 EPAS1 VHL
27 adrenal medulla cancer 9.9 RET SDHB SDHC SDHD
28 cowden disease 9.9 RET SDHB SDHC SDHD
29 multiple endocrine neoplasia, type iia 9.9 NF1 RET SDHB SDHD
30 gastrointestinal stromal tumor 9.7 NF1 SDHB SDHC SDHD
31 persistent generalized lymphadenopathy 9.7 EPAS1 SDHB SDHC SDHD
32 thyroid carcinoma, familial medullary 9.7
33 aging 9.7
34 thyroiditis 9.7
35 hypoxia 9.7
36 endocrine gland cancer 9.4 HRAS RET SDHB SDHC SDHD
37 bone structure disease 9.4 NF1 SOX9
38 phaeochromocytoma 9.2 NF1 RET SDHB SDHC SDHD VHL
39 hereditary paraganglioma-pheochromocytoma syndromes 9.0 MAX RET SDHB SDHC SDHD VHL
40 neurofibromatosis, type iv, of riccardi 8.7 HRAS NF1 RET SDHB SDHC SDHD

Graphical network of the top 20 diseases related to Sporadic Pheochromocytoma:



Diseases related to Sporadic Pheochromocytoma

Symptoms & Phenotypes for Sporadic Pheochromocytoma

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.03 HRAS
2 Decreased viability GR00221-A-1 10.03 NF1 RET SDHD VHL HRAS
3 Decreased viability GR00221-A-2 10.03 NF1 MAX RET SDHD VHL HRAS
4 Decreased viability GR00221-A-3 10.03 HRAS MAX
5 Decreased viability GR00221-A-4 10.03 NF1 RET SDHD
6 Decreased viability GR00231-A 10.03 RET
7 Decreased viability GR00301-A 10.03 RET VHL
8 Decreased viability GR00381-A-1 10.03 SDHD
9 Decreased viability GR00402-S-2 10.03 MAX NF1 RET SDHD VHL HRAS
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Sporadic Pheochromocytoma:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 EPAS1 HRAS NF1 RET SDHB SDHD
2 growth/size/body region MP:0005378 10.01 EPAS1 HRAS MAX NF1 RET SDHD
3 embryo MP:0005380 10 EPAS1 MAX NF1 RET SDHD SOX9
4 mortality/aging MP:0010768 10 NF1 RET SDHB SDHC SDHD SOX9
5 endocrine/exocrine gland MP:0005379 9.98 HRAS NF1 RET SDHB SDHD SOX9
6 hematopoietic system MP:0005397 9.97 RET SDHB SDHC SDHD SOX9 VHL
7 homeostasis/metabolism MP:0005376 9.97 EPAS1 HRAS NF1 RET SDHB SDHC
8 digestive/alimentary MP:0005381 9.95 HRAS MAP1LC3B NF1 RET SOX9 VHL
9 neoplasm MP:0002006 9.63 HRAS NF1 RET SDHB SDHD VHL
10 normal MP:0002873 9.5 HRAS NF1 RET SDHB SDHD SOX9
11 renal/urinary system MP:0005367 9.1 HRAS NF1 RET SDHB SOX9 VHL

Drugs & Therapeutics for Sporadic Pheochromocytoma

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved 51-41-2 439260
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Racepinephrine Approved 329-65-7 838
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis of Pheochromocytoma Recruiting NCT00004847

Search NIH Clinical Center for Sporadic Pheochromocytoma

Genetic Tests for Sporadic Pheochromocytoma

Anatomical Context for Sporadic Pheochromocytoma

MalaCards organs/tissues related to Sporadic Pheochromocytoma:

41
Adrenal Gland, Testes, Thyroid

Publications for Sporadic Pheochromocytoma

Articles related to Sporadic Pheochromocytoma:

(show all 47)
# Title Authors Year
1
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma. ( 28229225 )
2017
2
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. ( 28738844 )
2017
3
ARHI is a novel epigenetic silenced tumor suppressor in sporadic pheochromocytoma. ( 29156798 )
2017
4
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NIH STUDY. ( 26523625 )
2015
5
Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. ( 26267327 )
2015
6
VHL Gene Mutation Analysis of a Chinese Family with Non- Syndromic Pheochromocytomas and Patients with Apparently Sporadic Pheochromocytoma. ( 25773797 )
2015
7
A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma. ( 26497911 )
2015
8
H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series. ( 24684458 )
2014
9
A patient with an apparently sporadic pheochromocytoma with a rearranged during transfection codon 635 variant: a mild form of multiple endocrine neoplasia type 2? ( 24449676 )
2014
10
Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: a systematic review. ( 24954084 )
2014
11
Natural progression of a sporadic pheochromocytoma over 15A years. ( 25257240 )
2014
12
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. ( 23418310 )
2013
13
Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea. ( 24134185 )
2013
14
Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma identified by exome sequencing. ( 23640968 )
2013
15
A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma. ( 22946750 )
2013
16
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. ( 23010473 )
2012
17
Growth speed of sporadic pheochromocytoma. ( 22243126 )
2012
18
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. ( 22962301 )
2012
19
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. ( 22452945 )
2012
20
Surgical analysis of pediatric and adolescent sporadic pheochromocytoma: single center experience. ( 21516474 )
2011
21
Alterations of respiratory chain complexes in sporadic pheochromocytoma. ( 21196298 )
2011
22
Germinal mutations of RET, SDHB, SDHD, and VHL genes in patients with apparently sporadic pheochromocytomas and paragangliomas. ( 20205103 )
2010
23
Mutations of the metabolic genes IDH1, IDH2, and SDHAF2 are not major determinants of the pseudohypoxic phenotype of sporadic pheochromocytomas and paragangliomas. ( 20130071 )
2010
24
[Genetic detection and analysis of the VHL gene in patients with sporadic pheochromocytoma]. ( 19799085 )
2009
25
Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? ( 19029228 )
2009
26
Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. ( 19343621 )
2009
27
Prospective randomized comparison of laparoscopic versus open adrenalectomy for sporadic pheochromocytoma. ( 18398641 )
2008
28
Natural history of a sporadic pheochromocytoma. ( 18463050 )
2008
29
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. ( 18584357 )
2008
30
Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? ( 16735498 )
2006
31
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. ( 16161042 )
2006
32
Childhood sporadic pheochromocytoma: clinical profile and outcome in 19 patients. ( 16789642 )
2006
33
Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. ( 17102080 )
2006
34
Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. ( 15613462 )
2004
35
The gene expression profiling of sporadic pheochromocytoma and novel full-length cDNAs cloning. ( 14713272 )
2003
36
Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. ( 14557473 )
2003
37
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. ( 12364472 )
2002
38
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas. ( 11134110 )
2000
39
Mechanism of Ret activation by a mutation at aspartic acid 631 identified in sporadic pheochromocytoma. ( 10049754 )
1999
40
Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas. ( 9167962 )
1997
41
Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. ( 9398721 )
1997
42
The RET proto-oncogene in sporadic pheochromocytomas. ( 8835594 )
1996
43
Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. ( 8768845 )
1996
44
RET mutation screening in sporadic pheochromocytoma. ( 8550789 )
1996
45
The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects. ( 7608256 )
1995
46
Mutations in the RET protooncogene in sporadic pheochromocytomas. ( 7852530 )
1995
47
Loss of heterozygosity on chromosomes 1p and 11p in sporadic pheochromocytoma. ( 2915373 )
1989

Variations for Sporadic Pheochromocytoma

Expression for Sporadic Pheochromocytoma

Search GEO for disease gene expression data for Sporadic Pheochromocytoma.

Pathways for Sporadic Pheochromocytoma

Pathways related to Sporadic Pheochromocytoma according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1 12.07 EPAS1 HRAS MAX RET VHL
2
Show member pathways
11.99 SDHB SDHC SDHD
3
Show member pathways
11.7 SDHB SDHC SDHD
4
Show member pathways
11.61 EPAS1 HRAS NF1
5
Show member pathways
11.45 SDHB SDHC SDHD
6
Show member pathways
11.3 EPAS1 HRAS VHL
7 11.09 HRAS RET
8 11.09 HRAS RET
9 11.01 EPAS1 VHL
10 10.99 HRAS MAX
11 10.95 HRAS NF1
12 10.6 EPAS1 VHL
13 10.48 HRAS NF1 RET

GO Terms for Sporadic Pheochromocytoma

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

# Name GO ID Score Top Affiliating Genes
1 respiratory chain complex II GO:0045273 8.96 SDHB SDHC
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.8 SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.67 HRAS NF1 SOX9 VHL
2 aerobic respiration GO:0009060 9.43 SDHB SDHC
3 retina development in camera-type eye GO:0060041 9.43 MAX RET SOX9
4 regulation of long-term neuronal synaptic plasticity GO:0048169 9.4 HRAS NF1
5 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.32 NF1 RET
6 negative regulation of gene expression GO:0010629 9.26 HRAS MAX SOX9 VHL
7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.16 SDHC SDHD
8 tricarboxylic acid cycle GO:0006099 8.8 SDHB SDHC SDHD

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.43 SDHB SDHC SDHD
2 ubiquinone binding GO:0048039 9.16 SDHB SDHD
3 succinate dehydrogenase activity GO:0000104 8.96 SDHC SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.8 SDHB SDHC SDHD

Sources for Sporadic Pheochromocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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