MCID: HRD031
MIFTS: 37

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Genetic category

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.

MalaCards: Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to pheochromocytoma and paraganglioma. An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein), and among its related pathways are G-protein signaling H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. The compounds thenoyltrifluoroacetone and mibg have been mentioned in the context of this disorder. Affiliated tissues include kidney and adrenal gland, and related mouse phenotype mortality/aging.

GeneReviews summary for paragangliomas

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

hereditary paraganglioma-pheochromocytoma syndromes 19 21
hereditary pheochromocytoma-paraganglioma 43 20 22 21
hereditary paraganglioma-pheochromocytoma 43 21
paragangliomas 2 21 61
paragangliomas 3 21 61
paragangliomas 4 21 61
hereditary paraganglioma-pheochromocytoma syndrome 61
familial paraganglioma-pheochromocytoma syndromes 21
sdhx-related paraganglioma-pheochromocytoma 43
familial pheochromocytoma-paraganglioma 43
paragangliomas 1 21


Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma30.6SDHB, SDHD, RET, VHL
2paraganglioma30.6SDHA, SDHC, SDHB, SDHAF2, SDHD, TMEM127
3paragangliomas 130.3SDHB, RET
4carotid body tumor29.9SDHD, SDHB, SDHC
5paragangliomas 210.4
6paragangliomas 310.4
7sdhd-related hereditary paraganglioma-pheochromocytoma syndrome10.4
8sdhb-related hereditary paraganglioma-pheochromocytoma syndrome10.4
9max-related hereditary paraganglioma-pheochromocytoma syndrome10.4
10sdha-related hereditary paraganglioma-pheochromocytoma syndrome10.4
11paragangliomas 410.4
12paragangliomas 510.2
13paragangliomas 1, with or without deafness10.1
14glomus jugulare tumors10.0
15nonsyndromic paraganglioma10.0
16seminal vesicle tumor10.0SDHA
17glomus tympanicum tumor10.0
18sporadic secreting paraganglioma10.0
19thyroid cancer10.0RET
20parkinson's disease10.0GDNF
21central hypoventilation syndrome10.0GDNF
22alzheimer's disease10.0GDNF
23neurofibromatosis10.0SDHB, SDHD
24leigh disease10.0SDHA, SDHB
25ganglioneuroma10.0RET
26carney triad10.0SDHC, SDHB, SDHD
27hemangioblastoma10.0VHL
28chondroma10.0SDHC, SDHB, SDHD
29paraganglioma and gastric stromal sarcoma10.0SDHC, SDHB, SDHD
30leiomyomatosis10.0VHL, SDHB
31familial medullary thyroid carcinoma10.0RET, GDNF
32gastrointestinal stromal tumor10.0SDHA, SDHC, SDHB
33neuroma10.0RET, GDNF
34intestinal obstruction10.0GDNF, RET
35glomus tumor10.0VHL, SDHD, SDHB
36acoustic neuroma10.0GDNF, VHL
37hirschsprung's disease10.0GDNF, RET
38renal dysplasia10.0RET, GDNF
39autoimmune thyroiditis10.0SDHA, RET
40polycystic kidney disease10.0GDNF, VHL
41neuroendocrine tumor10.0GDNF, RET, SDHD
42renal agenesis10.0GDNF, RET
43breast cancer10.0VHL, SDHB, SDHC
44phaeochromocytoma10.0RET, SDHD, SDHB, SDHC
45kidney rhabdoid cancer10.0SDHB, VHL
46hyperparathyroidism10.0SDHC, SDHB, SDHD, RET
47adrenal adenoma10.0VHL, SDHD, SDHB, SDHC
48thyroid medullary carcinoma10.0VHL, GDNF, RET
49familial colorectal cancer10.0SDHB, SDHD, RET, VHL
50adenoma10.0RET, GDNF, VHL

Graphical network of the top 20 diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:



Diseases related to hereditary paraganglioma-pheochromocytoma syndromes

Clinical Features for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Drug clinical trials:

Search ClinicalTrials for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search CenterWatch for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Genetic test Affiliating Genes
1 Hereditary Paraganglioma-pheochromocytoma Syndromes20 22 SDHD
2 Hereditary Paraganglioma-pheochromocytoma Multi-gene Panels20
3 Hereditary Paragangliomas And Pheochromocytomas22

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

33
Kidney, Adrenal gland

Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.9SDHC, SDHD, KIF1B, RET, GDNF, MAX

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
51PubMed
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Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

idTitleAuthorsYear
1
18F-DOPA PET/CT in the evaluation of hereditary SDH-deficiency paraganglioma-pheochromocytoma syndromes. (23856824)
2014
2
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. (24375508)
2013
3
An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. (22328163)
2012
4
Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? (16735498)
2006
5
Hereditary Paraganglioma-Pheochromocytoma Syndromes (20301715)
1993

Genetic Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Expression for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search GEO for disease gene expression data for Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Pathways for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG
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Pathways related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
G-protein signaling H-RAS regulation pathway
Hide members
9.4RET, GDNF
29.4RET, GDNF
3
Hide members
9.1SDHC, SDHB, SDHD, SDHA
49.1SDHB, SDHC, SDHA, SDHD
5
Hide members
9.1SDHD, SDHB, SDHC, SDHA
6
Hide members
9.1SDHA, SDHD, SDHB, SDHC
7
Hide members
9.1SDHA, SDHD, SDHB, SDHC

Compounds for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB
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Compounds related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone45 1110.9SDHA, SDHB
2mibg459.6SDHB, SDHD
3UBIQUINONE-1119.4SDHD, SDHB, SDHC, SDHA
42-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol119.4SDHA, SDHC, SDHB, SDHD
5succinic acid29 11 2411.3SDHD, SDHB, SDHC, SDHA
6sunitinib45 50 1111.3RET, VHL
7iron-sulfur459.3SDHD, SDHB, SDHC, SDHA
8ubiquinone459.3SDHD, SDHB, SDHC, SDHA
9fumarate45 1110.1VHL, SDHD, SDHB, SDHC
10catecholamine459.0GDNF, RET, SDHD, SDHB
11succinate458.3SDHA, SDHC, SDHB, SDHD, RET, VHL
12iron45 249.1VHL, GDNF, SDHD, SDHB, SDHC, SDHA
13oxygen45 249.0VHL, GDNF, SDHD, SDHB, SDHC, SDHA
14vegf458.0VHL, GDNF, RET, SDHB, SDHC

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

Sources:
16Gene Ontology
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Cellular components related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.1SDHC, SDHB, SDHD, SDHA
2mitochondrial respiratory chain complex IIGO:0057499.0SDHD, SDHB, SDHC, SDHA
3mitochondrionGO:0057397.0SDHA, VHL, KIF1B, SDHD, SDHAF2, SDHB

Biological processes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:0061059.9SDHA, SDHB
2neural crest cell migrationGO:0017559.4RET, GDNF
3aerobic respirationGO:0090609.4SDHB, SDHC
4enteric nervous system developmentGO:0484849.3GDNF, RET
5tricarboxylic acid cycleGO:0060999.3SDHA, SDHC, SDHB, SDHD
6respiratory electron transport chainGO:0229049.2SDHD, SDHB, SDHC, SDHA
7cellular metabolic processGO:0442379.2SDHD, SDHB, SDHC, SDHA

Molecular functions related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:0081779.8SDHA, SDHB
2ubiquinone bindingGO:0480399.6SDHB, SDHD
3electron carrier activityGO:0090559.4SDHC, SDHB, SDHD

Products for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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