MCID: HRD031
MIFTS: 39

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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20GeneReviews, 34MalaCards
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MalaCards: Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to paragangliomas 1 and pheochromocytoma. 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 mibg and thenoyltrifluoroacetone have been mentioned in the context of this disorder. Related mouse phenotype mortality/aging.

GeneReviews summary for paragangliomas

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Sources:
20GeneReviews, 22Genetics Home Reference, 44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary paraganglioma-pheochromocytoma syndromes 20 22
hereditary pheochromocytoma-paraganglioma 44 21 23 22
hereditary paraganglioma-pheochromocytoma 44 22
paragangliomas 2 22 63
paragangliomas 3 22 63
paragangliomas 4 22 63
hereditary paraganglioma-pheochromocytoma syndrome 63
familial paraganglioma-pheochromocytoma syndromes 22
sdhx-related paraganglioma-pheochromocytoma 44
familial pheochromocytoma-paraganglioma 44
paragangliomas 1 22


Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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18GeneCards, 19GeneDecks
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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 49)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 130.7SDHB, RET
2pheochromocytoma30.6VHL, RET, SDHD, SDHB
3paragangliomas 530.5SDHA
4paraganglioma30.4SDHB, SDHD, SDHAF2, SDHC, SDHA, TMEM127
5carotid body tumor30.0SDHB, SDHD, SDHC
6paragangliomas 210.5
7paragangliomas 310.5
8paragangliomas 410.5
9max-related hereditary paraganglioma-pheochromocytoma syndrome10.5
10sdha-related hereditary paraganglioma-pheochromocytoma syndrome10.5
11paragangliomas 1, with or without deafness10.2
12central hypoventilation syndrome10.1GDNF
13neuroma10.1GDNF, RET
14neurofibromatosis10.1SDHD, SDHB
15familial medullary thyroid carcinoma10.1GDNF, RET
16renal dysplasia10.0RET, GDNF
17renal clear cell carcinoma10.0VHL
18intestinal obstruction10.0RET, GDNF
19renal agenesis10.0RET, GDNF
20acoustic neuroma10.0VHL, GDNF
21leigh disease10.0SDHA, SDHB
22hirschsprung's disease10.0GDNF, RET
23leiomyomatosis10.0SDHB, VHL
24polycystic kidney disease10.0VHL, GDNF
25hyperthyroidism10.0SDHA, SDHB
26neuroendocrine tumor10.0RET, SDHD, GDNF
27carney triad10.0SDHC, SDHD, SDHB
28chondroma10.0SDHB, SDHD, SDHC
29paraganglioma and gastric stromal sarcoma10.0SDHB, SDHD, SDHC
30glomus jugulare tumors10.0
31non-secreting paraganglioma10.0
32glomus tympanicum tumor10.0
33nonsyndromic paraganglioma10.0
34sporadic secreting paraganglioma10.0
35glomus tumor10.0VHL, SDHD, SDHB
36autoimmune thyroiditis10.0SDHA, RET
37gastrointestinal stromal tumor10.0SDHB, SDHC, SDHA
38thyroid medullary carcinoma10.0VHL, RET, GDNF
39kidney rhabdoid cancer10.0VHL, SDHB
40phaeochromocytoma10.0SDHB, SDHD, SDHC, RET
41hyperparathyroidism10.0SDHB, SDHD, SDHC, RET
42familial colorectal cancer9.9VHL, RET, SDHD, SDHB
43adrenal adenoma9.9SDHB, SDHD, SDHC, VHL
44kidney cancer9.9SDHB, SDHC, RET, VHL
45wermer syndrome9.9SDHB, SDHD, SDHC, RET, VHL
46von hippel-lindau disease9.9SDHB, SDHD, SDHC, TMEM127, RET, VHL
47hemangioma9.9SDHB, SDHD, SDHAF2, SDHC, RET, VHL
48multiple endocrine neoplasia type 2a9.9VHL, RET, SDHC, GDNF, SDHB, SDHD
49multiple endocrine neoplasia9.9GDNF, SDHB, SDHD, SDHC, RET, VHL

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Genetic test Affiliating Genes
1 Hereditary Paraganglioma-Pheochromocytoma Syndromes21 23 SDHD
2 Hereditary Paraganglioma-Pheochromocytoma Multi-Gene Panels21
3 Hereditary Paragangliomas and Pheochromocytomas23

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.0KIF1B, MAX, VHL, RET, SDHC, SDHD

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

1 (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 pathogenic, 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.487T> C (p.Ser163Pro)single nucleotide variantBenign, Likely benign, Pathogenicrs33927012GRCh37Chr 1, 17354297: 17354297
7SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
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 variantBenign, Pathogenicrs34677591GRCh37Chr 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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Sources:
2BioGPS, 16Gene 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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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 52PharmGKB
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Pathways related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GDNF, RET
29.6RET, GDNF
39.0MAX, VHL, RET
4
Show member pathways
8.8SDHA, SDHC, SDHD, SDHB
5
Show member pathways
TCA cycle39
pyruvate decarboxylation to acetyl CoA39
NAD phosphorylation and dephosphorylation39
TCA Cycle39
conversion of glucose to acetyl CoA and entry into the TCA cycle39
8.8SDHA, SDHC, SDHD, SDHB
6
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.8SDHB, SDHD, SDHC, SDHA
7
Show member pathways
Alzheimers Disease39
8.8SDHB, SDHD, SDHC, SDHA

Compounds for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Sources:
46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR
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Compounds related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1mibg469.9SDHD, SDHB
2thenoyltrifluoroacetone46 1210.8SDHA, SDHB
3Ubiquinol 8259.8SDHB, SDHA
4sunitinib46 52 1211.4VHL, RET
5sorafenib46 52 1211.2VHL, RET
6Fumaric acid259.2SDHB, SDHD, SDHC, SDHA
7dopamine46 30 25 1212.2RET, SDHB, GDNF
8succinic acid30 25 1211.1SDHB, SDHD, SDHC, SDHA
9iron-sulfur469.1SDHB, SDHD, SDHC, SDHA
10ubiquinone469.1SDHB, SDHD, SDHC, SDHA
11catecholamine469.1GDNF, SDHB, SDHD, RET
12Sulfide259.1SDHB, SDHD, SDHC, SDHA
13alpha-ketoglutarate469.1VHL, SDHB
14QH2259.1SDHA, SDHC, SDHD, SDHB
15Ubiquinone Q2259.1SDHB, SDHD, SDHC, SDHA
16Ubiquinone Q1259.1SDHA, SDHC, SDHD, SDHB
17FAD259.0SDHA, SDHC, SDHD, SDHB
18ly294002469.0GDNF, RET, VHL
19fumarate46 129.9SDHB, SDHD, SDHC, VHL
20vegf468.2GDNF, SDHB, SDHC, RET, VHL
21iron46 259.1GDNF, SDHB, SDHD, SDHC, SDHA, VHL
22oxygen46 259.1GDNF, SDHB, SDHD, SDHC, SDHA, VHL
23succinate468.0VHL, RET, SDHA, SDHC, SDHD, SDHB

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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17Gene Ontology
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Cellular components related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.8SDHA, SDHC, SDHD, SDHB
2mitochondrial respiratory chain complex IIGO:0057498.7SDHA, SDHC, SDHD, SDHB
3mitochondrionGO:0057396.8SDHB, SDHD, SDHAF2, SDHC, SDHA, VHL

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:0061059.7SDHA, SDHB
2enteric nervous system developmentGO:0484849.6RET, GDNF
3retina development in camera-type eyeGO:0600419.6MAX, RET
4aerobic respirationGO:0090609.4SDHB, SDHC
5neural crest cell migrationGO:0017559.3RET, GDNF
6tricarboxylic acid cycleGO:0060999.0SDHA, SDHC, SDHD, SDHB
7respiratory electron transport chainGO:0229049.0SDHB, SDHD, SDHC, SDHA
8cellular metabolic processGO:0442378.9SDHB, SDHD, SDHC, SDHA

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:0081779.5SDHA, SDHB
2ubiquinone bindingGO:0480399.4SDHB, SDHD
3succinate dehydrogenase activityGO:0001049.3SDHA, SDHC, SDHD
4electron carrier activityGO:0090559.2SDHC, SDHD, SDHB

Products for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet