MCID: HRD031
MIFTS: 39

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Genetic diseases, Rare diseases, Endocrine diseases categories
Download this MalaCard

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
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 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

About this section
Sources:
19GeneReviews, 21Genetics Home Reference, 43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

hereditary paraganglioma-pheochromocytoma syndromes 19 21
hereditary pheochromocytoma-paraganglioma 43 20 22 21
hereditary paraganglioma-pheochromocytoma 43 21
paragangliomas 2 21 62
paragangliomas 3 21 62
paragangliomas 4 21 62
hereditary paraganglioma-pheochromocytoma syndrome 62
familial paraganglioma-pheochromocytoma syndromes 21
sdhx-related paraganglioma-pheochromocytoma 43
familial pheochromocytoma-paraganglioma 43
paragangliomas 1 21


Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.0KIF1B, MAX, VHL, RET, SDHC, SDHD

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 51PharmGKB
See all sources

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 cycle38
pyruvate decarboxylation to acetyl CoA38
NAD phosphorylation and dephosphorylation38
TCA Cycle38
conversion of glucose to acetyl CoA and entry into the TCA cycle38
8.8SDHA, SDHC, SDHD, SDHB
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.8SDHB, SDHD, SDHC, SDHA
7
Show member pathways
Alzheimers Disease38
8.8SDHB, SDHD, SDHC, SDHA

Compounds for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Sources:
45Novoseek, 11DrugBank, 24HMDB, 51PharmGKB, 29IUPHAR
See all sources

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1mibg459.9SDHD, SDHB
2thenoyltrifluoroacetone45 1110.8SDHA, SDHB
3Ubiquinol 8249.8SDHB, SDHA
4sunitinib45 51 1111.4VHL, RET
5sorafenib45 51 1111.2VHL, RET
6Fumaric acid249.2SDHB, SDHD, SDHC, SDHA
7dopamine45 29 24 1112.2RET, SDHB, GDNF
8succinic acid29 24 1111.1SDHB, SDHD, SDHC, SDHA
9iron-sulfur459.1SDHB, SDHD, SDHC, SDHA
10ubiquinone459.1SDHB, SDHD, SDHC, SDHA
11catecholamine459.1GDNF, SDHB, SDHD, RET
12Sulfide249.1SDHB, SDHD, SDHC, SDHA
13alpha-ketoglutarate459.1VHL, SDHB
14QH2249.1SDHA, SDHC, SDHD, SDHB
15Ubiquinone Q2249.1SDHB, SDHD, SDHC, SDHA
16Ubiquinone Q1249.1SDHA, SDHC, SDHD, SDHB
17FAD249.0SDHA, SDHC, SDHD, SDHB
18ly294002459.0GDNF, RET, VHL
19fumarate45 119.9SDHB, SDHD, SDHC, VHL
20vegf458.2GDNF, SDHB, SDHC, RET, VHL
21iron45 249.1GDNF, SDHB, SDHD, SDHC, SDHA, VHL
22oxygen45 249.1GDNF, SDHB, SDHD, SDHC, SDHA, VHL
23succinate458.0VHL, RET, SDHA, SDHC, SDHD, SDHB

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet