MCID: SPR094
MIFTS: 36

Sporadic Pheochromocytoma

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare 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 paraganglioma. 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. 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:

Malignant Pheochromocytoma Sporadic Pheochromocytoma

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 pheochromocytoma 30.1 EPAS1 MAX NF1 RET SDHB SDHC
2 paraganglioma 29.8 MAX NF1 RET SDHB SDHC SDHD
3 multiple endocrine neoplasia 29.5 NF1 RET SDHB SDHC VHL
4 von hippel-lindau syndrome 29.4 NF1 RET SDHB SDHC SDHD VHL
5 sporadic pheochromocytoma/secreting paraganglioma 12.3
6 benign struma ovarii 10.1 HRAS RET
7 glomus tumor 10.1 SDHB SDHD
8 malignant struma ovarii 10.1 HRAS RET
9 erythrocytosis, familial, 2 10.1 EPAS1 VHL
10 multiple endocrine neoplasia, type i 10.1 RET SDHB SDHD
11 myelodysplastic myeloproliferative cancer 10.1 HRAS NF1
12 neural crest tumor 10.1 SDHB SDHC SDHD
13 extra-adrenal pheochromocytoma 10.1 SDHB SDHC SDHD
14 chondroma 10.1 SDHB SDHC SDHD
15 paraganglioma and gastric stromal sarcoma 10.1 SDHB SDHC SDHD
16 carney triad 10.1 SDHB SDHC SDHD
17 vulvar melanoma 10.1 HRAS NF1
18 lymph node disease 10.1 SDHB SDHC SDHD
19 mitochondrial complex ii deficiency 10.1 SDHB SDHC SDHD
20 lymphatic system disease 10.1 SDHB SDHC SDHD
21 adenosquamous lung carcinoma 10.1 HRAS RET
22 leopard syndrome 10.0 HRAS NF1
23 renal cell carcinoma, papillary, 1 10.0 HRAS SDHB VHL
24 retinal hemangioblastoma 10.0 EPAS1 VHL
25 paragangliomas 1 10.0 RET SDHB SDHC SDHD
26 adrenal medulla cancer 10.0 RET SDHB SDHC SDHD
27 endocrine organ benign neoplasm 10.0 RET SDHB SDHC SDHD
28 cowden disease 10.0 RET SDHB SDHC SDHD
29 multiple endocrine neoplasia, type iia 10.0 NF1 RET SDHB SDHD
30 autosomal genetic disease 10.0 NF1 RET SDHB SDHD
31 persistent generalized lymphadenopathy 9.9 EPAS1 SDHB SDHC SDHD
32 plethora of newborn 9.9 EPAS1 SDHB SDHC SDHD
33 gastrointestinal stromal tumor 9.9 NF1 SDHB SDHC SDHD
34 pulmonic stenosis 9.9 HRAS NF1
35 thyroid carcinoma, familial medullary 9.8
36 adrenal gland pheochromocytoma 9.8
37 nonsyndromic paraganglioma 9.8
38 hereditary paraganglioma-pheochromocytoma syndromes 9.7 MAX RET SDHB SDHC SDHD VHL
39 neurofibromatosis, type iv, of riccardi 9.6 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 HRAS NF1 RET SDHD VHL
3 Decreased viability GR00221-A-2 10.03 HRAS NF1 RET SDHD VHL MAX
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 HRAS NF1 RET SDHD VHL MAX
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 NF1 VHL

MGI Mouse Phenotypes related to Sporadic Pheochromocytoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 EPAS1 HRAS NF1 RET SDHB SDHD
2 mortality/aging MP:0010768 10 EPAS1 HRAS MAP1LC3B MAX NF1 RET
3 embryo MP:0005380 9.98 EPAS1 MAX NF1 RET SDHD SOX9
4 hematopoietic system MP:0005397 9.97 EPAS1 NF1 RET SDHB SDHC SDHD
5 homeostasis/metabolism MP:0005376 9.97 EPAS1 HRAS NF1 RET SDHB SDHC
6 endocrine/exocrine gland MP:0005379 9.95 HRAS NF1 RET SDHB SDHD SOX9
7 digestive/alimentary MP:0005381 9.93 HRAS MAP1LC3B NF1 RET SOX9 VHL
8 neoplasm MP:0002006 9.63 HRAS NF1 RET SDHB SDHD VHL
9 normal MP:0002873 9.5 HRAS NF1 RET SDHB SDHD SOX9
10 renal/urinary system MP:0005367 9.1 HRAS NF1 RET SDHB SOX9 VHL

Drugs & Therapeutics for Sporadic Pheochromocytoma

Search Clinical Trials , 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, Lung, Bone, Lymph Node

Publications for Sporadic Pheochromocytoma

Articles related to Sporadic Pheochromocytoma:

(show all 38)
# Title Authors Year
1
Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma. ( 30211214 )
2018
2
Implications of SDHB genetic testing in patients with sporadic pheochromocytoma. ( 28229225 )
2017
3
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma. ( 28738844 )
2017
4
ARHI is a novel epigenetic silenced tumor suppressor in sporadic pheochromocytoma. ( 29156798 )
2017
5
CHARACTERISTICS AND OUTCOMES OF METASTATIC SDHB AND SPORADIC PHEOCHROMOCYTOMA/PARAGANGLIOMA: AN NIH STUDY. ( 26523625 )
2015
6
Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. ( 26267327 )
2015
7
VHL Gene Mutation Analysis of a Chinese Family with Non- Syndromic Pheochromocytomas and Patients with Apparently Sporadic Pheochromocytoma. ( 25773797 )
2015
8
A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma. ( 26497911 )
2015
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
Growth speed of sporadic pheochromocytoma. ( 22243126 )
2012
17
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma. ( 22962301 )
2012
18
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. ( 22452945 )
2012
19
Surgical analysis of pediatric and adolescent sporadic pheochromocytoma: single center experience. ( 21516474 )
2011
20
Alterations of respiratory chain complexes in sporadic pheochromocytoma. ( 21196298 )
2011
21
[Genetic detection and analysis of the VHL gene in patients with sporadic pheochromocytoma]. ( 19799085 )
2009
22
Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? ( 19029228 )
2009
23
Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. ( 19343621 )
2009
24
Prospective randomized comparison of laparoscopic versus open adrenalectomy for sporadic pheochromocytoma. ( 18398641 )
2008
25
Natural history of a sporadic pheochromocytoma. ( 18463050 )
2008
26
A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. ( 18584357 )
2008
27
Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. ( 16161042 )
2006
28
Childhood sporadic pheochromocytoma: clinical profile and outcome in 19 patients. ( 16789642 )
2006
29
The gene expression profiling of sporadic pheochromocytoma and novel full-length cDNAs cloning. ( 14713272 )
2003
30
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
31
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. ( 12364472 )
2002
32
Mechanism of Ret activation by a mutation at aspartic acid 631 identified in sporadic pheochromocytoma. ( 10049754 )
1999
33
Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. ( 10458336 )
1999
34
Loss of heterozygosity on the short arm of chromosomes 1 and 3 in sporadic pheochromocytoma and extra-adrenal paraganglioma. ( 9104939 )
1997
35
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
36
RET mutation screening in sporadic pheochromocytoma. ( 8550789 )
1996
37
Loss of heterozygosity on chromosomes 1p and 11p in sporadic pheochromocytoma. ( 2915373 )
1989
38
Differences between sporadic pheochromocytoma and pheochromocytoma in multiple endocrime neoplasia, type 2. ( 6103678 )
1980

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 14)
# Super pathways Score Top Affiliating Genes
1 12.07 EPAS1 HRAS MAX RET VHL
2
Show member pathways
12 SDHB SDHC SDHD
3
Show member pathways
11.7 SDHB SDHC SDHD
4
Show member pathways
11.66 EPAS1 HRAS NF1
5
Show member pathways
11.45 SDHB SDHC SDHD
6
Show member pathways
11.3 EPAS1 HRAS VHL
7 11.1 HRAS RET
8 11.09 HRAS RET
9 11.01 EPAS1 VHL
10 10.99 HRAS MAX
11 10.95 HRAS NF1
12 10.55 EPAS1 VHL
13 10.48 HRAS NF1 RET
14 10 HRAS 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.73 HRAS NF1 SOX9 VHL
2 MAPK cascade GO:0000165 9.69 HRAS NF1 RET
3 response to oxidative stress GO:0006979 9.58 EPAS1 SDHAF3 SDHC
4 negative regulation of gene expression GO:0010629 9.56 HRAS MAX SOX9 VHL
5 regulation of cell adhesion GO:0030155 9.52 RET SOX9
6 aerobic respiration GO:0009060 9.49 SDHB SDHC
7 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.48 EPAS1 VHL
8 regulation of long-term neuronal synaptic plasticity GO:0048169 9.46 HRAS NF1
9 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.37 NF1 RET
10 retina development in camera-type eye GO:0060041 9.33 MAX RET SOX9
11 succinate metabolic process GO:0006105 9.32 SDHAF3 SDHB
12 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.96 SDHC SDHD
13 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 9.33 SDHB SDHC SDHD
2 ubiquinone binding GO:0048039 9.13 SDHB SDHC SDHD
3 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
Content
Loading form....