MCID: HRD031
MIFTS: 39

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Genetic diseases category

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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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

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Sources:
19GeneReviews, 21Genetics Home Reference, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary paraganglioma-pheochromocytoma syndromes 19 21
hereditary pheochromocytoma-paraganglioma 42 20 22 21
hereditary paraganglioma-pheochromocytoma 42 21
paragangliomas 3 21 60
paragangliomas 4 21 60
paragangliomas 2 21 60
hereditary paraganglioma-pheochromocytoma syndrome 60
familial paraganglioma-pheochromocytoma syndromes 21
sdhx-related paraganglioma-pheochromocytoma 42
familial pheochromocytoma-paraganglioma 42
paragangliomas 1 21


Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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17GeneCards, 18GeneDecks
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Diseases in the Hereditary Paraganglioma-Pheochromocytoma Syndromes family:

Sdhd-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
Max-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma30.6SDHB, SDHD, RET, VHL
2paraganglioma30.5SDHA, SDHC, SDHB, SDHAF2, SDHD, TMEM127
3paragangliomas 130.3SDHB, RET
4glomus tumor29.9VHL, SDHD, SDHB
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 410.3
12paragangliomas 510.2
13paragangliomas 1, with or without deafness10.1
14seminal vesicle tumor10.0SDHA
15thyroid cancer10.0RET
16parkinson's disease10.0GDNF
17central hypoventilation syndrome10.0GDNF
18alzheimer's disease10.0GDNF
19neurofibromatosis10.0SDHB, SDHD
20leigh disease10.0SDHA, SDHB
21ganglioneuroma10.0RET
22carney triad10.0SDHC, SDHB, SDHD
23hemangioblastoma10.0VHL
24chondroma10.0SDHC, SDHB, SDHD
25paraganglioma and gastric stromal sarcoma10.0SDHC, SDHB, SDHD
26carotid body tumor10.0SDHD, SDHB, SDHC
27leiomyomatosis10.0VHL, SDHB
28familial medullary thyroid carcinoma10.0RET, GDNF
29gastrointestinal stromal tumor10.0SDHA, SDHC, SDHB
30neuroma10.0RET, GDNF
31intestinal obstruction10.0GDNF, RET
32acoustic neuroma10.0GDNF, VHL
33hirschsprung's disease10.0GDNF, RET
34renal dysplasia10.0RET, GDNF
35autoimmune thyroiditis10.0SDHA, RET
36polycystic kidney disease10.0GDNF, VHL
37neuroendocrine tumor10.0GDNF, RET, SDHD
38renal agenesis10.0GDNF, RET
39breast cancer10.0VHL, SDHB, SDHC
40phaeochromocytoma10.0RET, SDHD, SDHB, SDHC
41kidney rhabdoid cancer10.0SDHB, VHL
42hyperparathyroidism10.0SDHC, SDHB, SDHD, RET
43adrenal adenoma10.0VHL, SDHD, SDHB, SDHC
44thyroid medullary carcinoma10.0VHL, GDNF, RET
45familial colorectal cancer10.0SDHB, SDHD, RET, VHL
46adenoma10.0RET, GDNF, VHL
47non-secreting paraganglioma10.0
48kidney cancer10.0VHL, RET, SDHB, SDHC
49wermer syndrome10.0VHL, RET, SDHD, SDHB, SDHC
50glomus tympanicum tumor10.0

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

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Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Sources:
5CenterWatch, 41NIH 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

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32MalaCards
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MalaCards organs/tissues related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

32
Kidney, Adrenal gland

Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.9SDHC, SDHD, KIF1B, RET, GDNF, MAX

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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50PubMed
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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
Hereditary Paraganglioma-Pheochromocytoma Syndromes (20301715)
1993

Genetic Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Expression for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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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

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12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 29KEGG
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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

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1110.9SDHA, SDHB
2mibg449.6SDHB, SDHD
3UBIQUINONE-1119.4SDHD, SDHB, SDHC, SDHA
42-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol119.4SDHA, SDHC, SDHB, SDHD
5succinic acid28 11 2411.3SDHD, SDHB, SDHC, SDHA
6sunitinib44 49 1111.3RET, VHL
7iron-sulfur449.3SDHD, SDHB, SDHC, SDHA
8ubiquinone449.3SDHD, SDHB, SDHC, SDHA
9fumarate44 1110.1VHL, SDHD, SDHB, SDHC
10catecholamine449.0GDNF, RET, SDHD, SDHB
11succinate448.3SDHA, SDHC, SDHB, SDHD, RET, VHL
12iron44 249.1VHL, GDNF, SDHD, SDHB, SDHC, SDHA
13oxygen44 249.0VHL, GDNF, SDHD, SDHB, SDHC, SDHA
14vegf448.0VHL, GDNF, RET, SDHB, SDHC

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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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

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Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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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