MCID: HRD031
MIFTS: 43

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories
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Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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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 based summary: Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to paragangliomas 1 and paraganglioma. An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is SDHAF2 (succinate dehydrogenase complex assembly factor 2), and among its related pathways are G protein signaling H RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. The compounds mibg and thenoyltrifluoroacetone have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreas and adrenal gland, and related mouse phenotype mortality/aging.

GeneReviews summary for paragangliomas

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Hereditary Paraganglioma-Pheochromocytoma Syndromes, Aliases & Descriptions:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 19 21
Hereditary Pheochromocytoma-Paraganglioma 42 20 22 21
Hereditary Paraganglioma-Pheochromocytoma 42 21
Paragangliomas 4 21 62
Paragangliomas 1 21 62
Paragangliomas 2 21 62
Paragangliomas 3 21 62
 
Bilateral Pheochromocytoma and Islet Cell Adenoma of the Pancreas 62
Hereditary Paraganglioma-Pheochromocytoma Syndrome 62
Familial Paraganglioma-Pheochromocytoma Syndromes 21
Sdhx-Related Paraganglioma-Pheochromocytoma 42
Familial Pheochromocytoma-Paraganglioma 42
Familial Nonchromaffin Paragangliomas 19
Familial Glomus Tumors 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Diseases in the Hereditary Paraganglioma-Pheochromocytoma Syndromes family:

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 all 44)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 131.0RET, SDHB
2paraganglioma30.8VHL, SDHB, SDHD
3pheochromocytoma30.5RET, SDHB, VHL, SDHD
4carotid body tumor30.3SDHB, SDHD, SDHC
5paragangliomas 210.5
6paragangliomas 310.5
7paragangliomas 410.5
8max-related hereditary paraganglioma-pheochromocytoma syndrome10.5
9sdha-related hereditary paraganglioma-pheochromocytoma syndrome10.5
10paragangliomas 510.4SDHA
11central hypoventilation syndrome10.4GDNF
12neurofibromatosis10.3SDHB, SDHD
13neuroma10.2GDNF, RET
14familial medullary thyroid carcinoma10.2GDNF, RET
15renal clear cell carcinoma10.2VHL
16renal dysplasia10.2GDNF, RET
17paragangliomas 1, with or without deafness10.2
18carney triad10.2SDHD, SDHC, SDHB
19chondroma10.2SDHB, SDHD, SDHC
20leigh disease10.2SDHA, SDHB
21paraganglioma and gastric stromal sarcoma10.2SDHB, SDHD, SDHC
22leiomyomatosis10.2SDHB, VHL
23intestinal obstruction10.2GDNF, RET
24acoustic neuroma10.1GDNF, VHL
25renal agenesis10.1RET, GDNF
26hirschsprung's disease10.1GDNF, RET
27hyperthyroidism10.1SDHB, SDHA
28polycystic kidney disease10.1GDNF, VHL
29gastrointestinal stromal tumor10.1SDHA, SDHB, SDHC
30neuroendocrine tumor10.1GDNF, SDHD, RET
31glomus jugulare tumors10.0
32autoimmune thyroiditis10.0RET, SDHA
33phaeochromocytoma10.0SDHD, SDHB, SDHC, RET
34hyperparathyroidism9.9RET, SDHC, SDHD, SDHB
35thyroid medullary carcinoma9.9VHL, GDNF, RET
36kidney rhabdoid cancer9.9SDHB, VHL
37adrenal cortical adenoma9.9VHL, SDHC, SDHD, SDHB
38familial colorectal cancer9.8VHL, SDHB, RET, SDHD
39kidney cancer9.8SDHB, SDHC, VHL, RET
40wermer syndrome9.7SDHD, SDHB, RET, SDHC, VHL
41hemangioma9.6SDHD, VHL, SDHB, SDHC, RET, SDHAF2
42von hippel-lindau disease9.6SDHC, TMEM127, RET, VHL, SDHB, SDHD
43multiple endocrine neoplasia type 2a9.5GDNF, RET, SDHC, SDHD, VHL, SDHB
44multiple endocrine neoplasia9.5SDHC, SDHD, SDHB, GDNF, VHL, RET

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



Diseases related to hereditary paraganglioma-pheochromocytoma syndromes

Symptoms for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Drug clinical trials:

Search ClinicalTrials for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

32
Kidney, Pancreas, Adrenal gland

Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.0KIF1B, MAX, VHL, RET, SDHC, SDHD

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

idTitleAuthorsYear
1
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. (24375508)
2013
2
Hereditary Paraganglioma-Pheochromocytoma Syndromes (20301715)
1993

Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Clinvar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

6 (show all 31)
id Gene Name Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
2SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)single nucleotide variantLikely pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
3SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
4SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
5SDHBNM_003000.2(SDHB): c.395A> C (p.His132Pro)single nucleotide variantPathogenicrs74315372GRCh37Chr 1, 17355123: 17355123
6SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
7SDHDNM_003002.3(SDHD): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
8SDHBNM_003000.2(SDHB): c.423+1G> Asingle nucleotide variantPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
9SDHAF2NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg)single nucleotide variantPathogenicrs113560320GRCh37Chr 11, 61205292: 61205292
10SDHCNM_003001.3(SDHC): c.43C> T (p.Arg15Ter)single nucleotide variantPathogenicrs201286421GRCh37Chr 1, 161293426: 161293426
11SDHDNM_003002.3(SDHD): c.106C> T (p.Gln36Ter)single nucleotide variantPathogenicrs104894303GRCh37Chr 11, 111958634: 111958634
12SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
13SDHDNM_003002.3(SDHD): c.52+2T> Gsingle nucleotide variantPathogenicGRCh38Chr 11, 112086961: 112086961
14SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
15SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
16SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
17SDHDNM_003002.3(SDHD): c.305A> T (p.His102Leu)single nucleotide variantPathogenicrs104894302GRCh37Chr 11, 111959726: 111959726
18SDHDNM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs)insertionPathogenicGRCh38Chr 11, 112094827: 112094828
19SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)single nucleotide variantPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
20SDHDNM_003002.3(SDHD): c.95C> A (p.Ser32Ter)single nucleotide variantPathogenicrs104894305GRCh37Chr 11, 111958623: 111958623
21SDHDNM_003002.3(SDHD): c.443delG (p.Gly148Alafs)deletionPathogenicGRCh38Chr 11, 112094933: 112094933
22SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
23SDHDNM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del)deletionPathogenicrs121908983GRCh37Chr 11, 111959698: 111959700
24SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
25SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630
26SDHDNM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs)deletionPathogenicrs397514034GRCh37Chr 11, 111958622: 111958623
27SDHDNM_003002.3(SDHD): c.463delA (p.Met155Cysfs)deletionPathogenicGRCh38Chr 11, 112094953: 112094953
28SDHDNM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs)deletionPathogenicGRCh38Chr 11, 112094827: 112094830
29SDHDNM_003002.3(SDHD): c.129G> A (p.Trp43Ter)single nucleotide variantPathogenicrs104894308GRCh37Chr 11, 111958657: 111958657
30SDHCNM_003001.3(SDHC): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicGRCh37Chr 1, 161284198: 161284198
31SDHCNM_003001.3(SDHC): c.405+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 1, 161326631: 161326631

Expression for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5GDNF, RET
29.5RET, GDNF
3
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.0SDHA, SDHC, SDHD, SDHB
4
Show member pathways
9.0SDHD, SDHC, SDHA, SDHB
5
Show member pathways
Alzheimers Disease37
9.0SDHB, SDHD, SDHC, SDHA
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.0SDHB, SDHD, SDHC, SDHA
78.9VHL, MAX, RET

Compounds for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 28IUPHAR
See all sources

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1mibg4410.0SDHD, SDHB
2thenoyltrifluoroacetone44 1110.8SDHA, SDHB
3Ubiquinol 8249.8SDHB, SDHA
4sunitinib44 50 1111.4VHL, RET
5Fumaric acid249.3SDHB, SDHD, SDHC, SDHA
6succinic acid28 24 1111.3SDHB, SDHD, SDHC, SDHA
7iron-sulfur449.3SDHB, SDHD, SDHC, SDHA
8ubiquinone449.3SDHB, SDHD, SDHC, SDHA
9Sulfide249.3SDHB, SDHD, SDHC, SDHA
10QH2249.3SDHA, SDHC, SDHD, SDHB
11Ubiquinone Q2249.3SDHB, SDHD, SDHC, SDHA
12Ubiquinone Q1249.3SDHA, SDHC, SDHD, SDHB
13alpha-ketoglutarate449.2VHL, SDHB
14sorafenib44 50 1111.2VHL, RET
15fumarate44 1110.2SDHB, SDHD, SDHC, VHL
16dopamine44 28 24 1112.2RET, SDHB, GDNF
17FAD249.2SDHA, SDHC, SDHD, SDHB
18catecholamine449.2GDNF, SDHB, SDHD, RET
19ly294002448.9GDNF, RET, VHL
20vegf448.5GDNF, SDHB, SDHC, RET, VHL
21iron44 249.3GDNF, SDHB, SDHD, SDHC, SDHA, VHL
22succinate448.2VHL, RET, SDHA, SDHC, SDHD, SDHB
23oxygen44 249.2GDNF, SDHB, SDHD, SDHC, SDHA, VHL

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Cellular components related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.0SDHC, SDHD, SDHB, SDHA
2mitochondrial respiratory chain complex IIGO:0057498.9SDHB, SDHD, SDHC, SDHA
3mitochondrionGO:0057397.0KIF1B, SDHB, SDHD, SDHAF2, SDHC, SDHA

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1aerobic respirationGO:0090609.7SDHB, SDHC
2succinate metabolic processGO:0061059.7SDHA, SDHB
3enteric nervous system developmentGO:0484849.5RET, GDNF
4retina development in camera-type eyeGO:0600419.5MAX, RET
5neural crest cell migrationGO:0017559.2RET, GDNF
6tricarboxylic acid cycleGO:0060999.2SDHA, SDHC, SDHD, SDHB
7respiratory electron transport chainGO:0229049.1SDHB, SDHD, SDHC, SDHA
8cellular metabolic processGO:0442379.1SDHB, SDHD, SDHC, SDHA

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

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:0480399.6SDHB, SDHD
2succinate dehydrogenase (ubiquinone) activityGO:0081779.5SDHA, SDHB
3electron carrier activityGO:0090559.5SDHC, SDHD, SDHB
4succinate dehydrogenase activityGO:0001049.3SDHA, SDHC, SDHD

Products for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet