Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Cancer diseases categories

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Aliases & Descriptions for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 19 21
Hereditary Pheochromocytoma-Paraganglioma 42 20 21 48 22
Sdhx-Related Paraganglioma-Pheochromocytoma 42 48
Hereditary Paraganglioma-Pheochromocytoma 42 21
Familial Pheochromocytoma-Paraganglioma 42 48
Paragangliomas 3 21 61
Paragangliomas 2 21 61
Paragangliomas 4 21 61
Familial Paraganglioma-Pheochromocytoma Syndromes 21
Familial Nonchromaffin Paragangliomas 19
Familial Glomus Tumors 19
Paragangliomas 1 21
Paraganglioma 61


Characteristics (Orphanet epidemiological data):

hereditary pheochromocytoma-paraganglioma:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult

External Ids:

Orphanet48 29072
ICD10 via Orphanet26 C74.1, C75.5, D35.0 D35.6, more

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 paraganglioma and paragangliomas 1, with or without deafness. An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is SDHAF2 (succinate dehydrogenase complex assembly factor 2), and among its related pathways are Renal cell carcinoma and G protein signaling H RAS regulation pathway. The compounds thenoyltrifluoroacetone and mibg have been mentioned in the context of this disorder. Affiliated tissues include kidney and adrenal gland, and related mouse phenotypes are cellular and mortality/aging.

GeneReviews summary for paragangliomas

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 Suite gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma31.0SDHB, RET
2paragangliomas 1, with or without deafness31.0SDHB, SDHD, SDHC
3pheochromocytoma30.5VHL, RET, SDHD, SDHB
4max-related hereditary paraganglioma-pheochromocytoma syndrome10.6
5sdha-related hereditary paraganglioma-pheochromocytoma syndrome10.6
6paragangliomas 510.5SDHA
7paragangliomas 410.5
8paragangliomas 310.5
9paragangliomas 210.5
10central hypoventilation syndrome, congenital10.4GDNF
11fumarate hydratase deficiency10.4FH
13neurofibromatosis, type 210.3SDHD, SDHB
14leigh syndrome10.3SDHB, SDHA
15leiomyomatosis and renal cell cancer10.2SDHB, FH
16carney triad10.2SDHC, SDHD, SDHB
17chondroma10.2SDHC, SDHD, SDHB
18paraganglioma and gastric stromal sarcoma10.2SDHB, SDHD, SDHC
19hyperthyroidism10.2SDHA, SDHB
20gastrointestinal stromal tumor10.2SDHA, SDHC, SDHB
21acoustic neuroma10.2VHL, GDNF
22renal clear cell carcinoma10.2FH, VHL
23neuroma10.2RET, GDNF
24medullary thyroid carcinoma, familial10.1GDNF, RET
25glomus tumor10.1SDHB, SDHD, VHL
26cystic kidney10.1VHL, FH
27renal dysplasia10.1RET, GDNF
28polycystic kidney disease10.1GDNF, VHL
29intestinal obstruction10.1GDNF, RET
30renal hypodysplasia/aplasia 110.1GDNF, RET
31leiomyomatosis10.0SDHB, FH, VHL
32hirschsprung disease 110.0RET, GDNF
33oxyphilic adenoma10.0FH, VHL
34hashimoto thyroiditis10.0RET, SDHA
35neuroendocrine tumor10.0GDNF, SDHD, RET
36kidney cancer10.0VHL, FH, SDHB
37adrenal cortical adenoma10.0SDHB, SDHD, SDHC, VHL
38phaeochromocytoma9.9RET, SDHC, SDHD, SDHB
39hyperparathyroidism9.9SDHB, SDHD, SDHC, RET
40renal cell carcinoma9.9VHL, FH
41multiple endocrine neoplasia 19.7SDHB, SDHD, SDHC, RET, VHL
42neurofibromatosis9.7SDHB, SDHD, SDHC, RET, VHL
43von hippel-lindau syndrome9.6SDHB, SDHD, SDHC, TMEM127, RET, VHL
44hemangioma9.6SDHB, SDHD, SDHAF2, SDHC, RET, VHL
45multiple endocrine neoplasia9.5GDNF, SDHB, SDHD, SDHC, RET, VHL
46multiple endocrine neoplasia iia9.5VHL, RET, SDHC, GDNF, SDHB, SDHD

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:

Kidney, 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:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.4MAX, VHL, FH, RET, SDHD, GDNF
2MP:00107686.3KIF1B, GDNF, SDHD, SDHC, RET, FH

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. (24375508)
Hereditary Paraganglioma-Pheochromocytoma Syndromes (20301715)

Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Clinvar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

5 (show all 74)
id Gene Variation Type Significance SNP ID Assembly Location
1TMEM127NM_017849.3(TMEM127): c.410-2A> Csingle nucleotide variantLikely pathogenic, risk factorrs121908826GRCh37Chr 2, 96919855: 96919855
2TMEM127NM_017849.3(TMEM127): c.475C> T (p.Gln159Ter)single nucleotide variantLikely pathogenic, risk factorrs121908830GRCh37Chr 2, 96919788: 96919788
3TMEM127NM_017849.3(TMEM127): c.245-1G> Tsingle nucleotide variantLikely pathogenic, risk factorrs121908821GRCh37Chr 2, 96920736: 96920736
4TMEM127NM_017849.3(TMEM127): c.149dupA (p.Pro51Alafs)duplicationLikely pathogenic, risk factorrs121908817GRCh37Chr 2, 96930970: 96930971
5TMEM127NM_017849.3(TMEM127): c.-18C> Tsingle nucleotide variantLikely pathogenicrs121908813GRCh37Chr 2, 96931137: 96931137
6TMEM127NM_017849.3(TMEM127): c.116_119delTGTC (p.Ile41Argfs)deletionLikely pathogenicrs121908816GRCh37Chr 2, 96931001: 96931004
7TMEM127NM_017849.3(TMEM127): c.158G> C (p.Trp53Ser)single nucleotide variantLikely pathogenicrs121908818GRCh37Chr 2, 96930962: 96930962
8TMEM127NM_017849.3(TMEM127): c.208G> A (p.Asp70Asn)single nucleotide variantLikely pathogenicrs121908819GRCh37Chr 2, 96930912: 96930912
9TMEM127NM_017849.3(TMEM127): c.217G> C (p.Gly73Arg)single nucleotide variantLikely pathogenicrs121908820GRCh37Chr 2, 96930903: 96930903
10TMEM127NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs)deletionLikely pathogenicrs121908822GRCh37Chr 2, 96920712: 96920715
11TMEM127NM_017849.3(TMEM127): c.280C> T (p.Arg94Trp)single nucleotide variantLikely pathogenicrs121908824GRCh37Chr 2, 96920700: 96920700
12TMEM127NM_017849.3(TMEM127): c.3G> T (p.Met1Ile)single nucleotide variantLikely pathogenicrs121908814GRCh37Chr 2, 96931117: 96931117
13TMEM127NM_017849.3(TMEM127): c.409+1G> Tsingle nucleotide variantLikely pathogenicrs121908825GRCh37Chr 2, 96920570: 96920570
14TMEM127NM_017849.3(TMEM127): c.418T> C (p.Cys140Arg)single nucleotide variantLikely pathogenicrs121908827GRCh37Chr 2, 96919845: 96919845
15TMEM127NM_017849.3(TMEM127): c.419G> A (p.Cys140Tyr)single nucleotide variantLikely pathogenicrs121908828GRCh37Chr 2, 96919844: 96919844
16TMEM127NM_017849.3(TMEM127): c.447G> A (p.Trp149Ter)single nucleotide variantLikely pathogenicrs121908829GRCh37Chr 2, 96919816: 96919816
17TMEM127NM_017849.3(TMEM127): c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs)duplicationLikely pathogenicrs121908831GRCh37Chr 2, 96919623: 96919636
18TMEM127NM_017849.3(TMEM127): c.76C> T (p.Gln26Ter)single nucleotide variantLikely pathogenicrs121908815GRCh37Chr 2, 96931044: 96931044
19SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
20SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)single nucleotide variantLikely pathogenic, Pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
21SDHBSDHB, 1-BP DEL, 725CdeletionPathogenic
22SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
23SDHBSDHB, 4-BP DEL, 847NTdeletionPathogenic
24SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
25SDHBSDHB, 1.0-KB DEL, EX1deletionPathogenic
26SDHBNM_003000.2(SDHB): c.136C> G (p.Arg46Gly)single nucleotide variantPathogenicrs74315370GRCh37Chr 1, 17371320: 17371320
27SDHBNM_003000.2(SDHB): c.302G> A (p.Cys101Tyr)single nucleotide variantPathogenicrs74315371GRCh37Chr 1, 17355216: 17355216
28SDHBNM_003000.2(SDHB): c.395A> C (p.His132Pro)single nucleotide variantPathogenicrs74315372GRCh37Chr 1, 17355123: 17355123
29SDHBNM_003000.2(SDHB): c.299C> T (p.Ser100Phe)single nucleotide variantPathogenicrs121917755GRCh37Chr 1, 17355219: 17355219
30TMEM127NM_017849.3(TMEM127): c.268G> A (p.Val90Met)single nucleotide variantLikely pathogenicrs121908823GRCh37Chr 2, 96920712: 96920712
31RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
32RETNM_020975.4(RET): c.1900T> G (p.Cys634Gly)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
33RETNM_020975.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
34RETNM_020975.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
35RETNM_020975.4(RET): c.1900T> C (p.Cys634Arg)single nucleotide variantPathogenicrs75076352GRCh37Chr 10, 43609948: 43609948
36RETNM_020975.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
37RETNM_020975.4(RET): c.2753T> C (p.Met918Thr)single nucleotide variantPathogenicrs74799832GRCh37Chr 10, 43617416: 43617416
38SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
39SDHBSDHB, 15.69-KB DEL, EX1deletionPathogenic
40SDHBSDHB, 20.3-KB DEL, EX1deletionPathogenic
41SDHDNM_003002.3(SDHD): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
42VHLNM_000551.3(VHL): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs104893827GRCh37Chr 3, 10183719: 10183719
43VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
44SDHBNM_003000.2(SDHB): c.423+1G> Asingle nucleotide variantPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
45SDHANM_004168.3(SDHA): c.1765C> T (p.Arg589Trp)single nucleotide variantPathogenicrs387906780GRCh37Chr 5, 251554: 251554
46SDHBNM_003000.2(SDHB): c.32G> A (p.Arg11His)single nucleotide variantLikely pathogenicrs111430410GRCh37Chr 1, 17380483: 17380483
47SDHBNM_003000.2(SDHB): c.423+20T> Asingle nucleotide variantLikely pathogenicrs190139590GRCh37Chr 1, 17355075: 17355075
48SDHAF2NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg)single nucleotide variantPathogenicrs113560320GRCh37Chr 11, 61205292: 61205292
49SDHCNM_003001.3(SDHC): c.43C> T (p.Arg15Ter)single nucleotide variantPathogenicrs201286421GRCh37Chr 1, 161293426: 161293426
50SDHDNM_003002.3(SDHD): c.106C> T (p.Gln36Ter)single nucleotide variantPathogenicrs104894303GRCh37Chr 11, 111958634: 111958634
51SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
52SDHDNM_003002.3(SDHD): c.52+2T> Gsingle nucleotide variantPathogenicGRCh38Chr 11, 112086961: 112086961
53SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
54SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
55SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
56SDHDNM_003002.3(SDHD): c.305A> T (p.His102Leu)single nucleotide variantPathogenicrs104894302GRCh37Chr 11, 111959726: 111959726
57SDHDNM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs)insertionPathogenicGRCh38Chr 11, 112094827: 112094828
58SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)single nucleotide variantPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
59SDHDNM_003002.3(SDHD): c.95C> A (p.Ser32Ter)single nucleotide variantPathogenicrs104894305GRCh37Chr 11, 111958623: 111958623
60SDHDNM_003002.3(SDHD): c.443delG (p.Gly148Alafs)deletionPathogenicGRCh38Chr 11, 112094933: 112094933
61SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
62SDHDNM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del)deletionPathogenicrs121908983GRCh37Chr 11, 111959698: 111959700
63SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
64SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630
65SDHDNM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs)deletionPathogenicrs397514034GRCh37Chr 11, 111958622: 111958623
66SDHDNM_003002.3(SDHD): c.463delA (p.Met155Cysfs)deletionPathogenicGRCh38Chr 11, 112094953: 112094953
67SDHDNM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs)deletionPathogenicGRCh38Chr 11, 112094827: 112094830
68SDHDNM_003002.3(SDHD): c.129G> A (p.Trp43Ter)single nucleotide variantPathogenicrs104894308GRCh37Chr 11, 111958657: 111958657
69SDHDSDHD, 96-KB DELdeletionPathogenic
70SDHDNM_003002.3(SDHD): c.33C> A (p.Cys11Ter)single nucleotide variantPathogenicrs104894309GRCh37Chr 11, 111957664: 111957664
71SDHDNM_003002.3(SDHD): c.14G> A (p.Trp5Ter)single nucleotide variantPathogenicrs104894310GRCh37Chr 11, 111957645: 111957645
72SDHCNM_003001.3(SDHC): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicGRCh37Chr 1, 161284198: 161284198
73SDHCNM_003001.3(SDHC): c.405+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 1, 161326631: 161326631
74SDHCSDHC, 8,372-BP DELdeletionPathogenic

Cosmic variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
1486HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
2499HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
3496HRASadrenal gland,adrenal gland,pheochromocytoma,benign3
4329089NF1adrenal gland,adrenal gland,pheochromocytoma,benign3
5965RETadrenal gland,adrenal gland,pheochromocytoma,benign3
617662VHLadrenal gland,adrenal gland,pheochromocytoma,benign3

Expression for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5VHL, FH
Show member pathways
Alzheimers Disease36
Show member pathways
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
Show member pathways
Show member pathways
TCA cycle36
pyruvate decarboxylation to acetyl CoA36
NAD phosphorylation and dephosphorylation36
TCA Cycle36
conversion of glucose to acetyl CoA and entry into the TCA cycle36

Compounds for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

Compounds related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(show all 31)
idCompoundScoreTop Affiliating Genes
1thenoyltrifluoroacetone44 1111.1SDHA, SDHB
2mibg4410.1SDHD, SDHB
3Ubiquinol 82410.1SDHA, SDHB
4sunitinib44 50 1111.9VHL, RET
5isocitrate449.7FH, SDHB
6succinic acid28 24 1111.6SDHC, SDHD, SDHA, SDHB
7iron-sulfur449.6SDHA, SDHC, SDHD, SDHB
8ubiquinone449.6SDHD, SDHB, SDHA, SDHC
9sorafenib44 50 1111.6VHL, RET
10Sulfide249.6SDHD, SDHB, SDHA, SDHC
12Ubiquinone Q2249.6SDHA, SDHC, SDHD, SDHB
13Ubiquinone Q1249.6SDHD, SDHC, SDHA, SDHB
15malate449.5SDHB, FH
16nad+449.5SDHB, SDHA, FH
17alpha-ketoglutarate449.5FH, VHL, SDHB
18nadh44 24 1111.4SDHA, SDHB, FH
19Fumaric acid249.0FH, SDHB, SDHD, SDHC, SDHA
20catecholamine449.0GDNF, SDHD, RET, SDHB
21ly294002448.9GDNF, VHL, RET
22fumarate44 119.9SDHC, FH, VHL, SDHD, SDHB
23superoxide44 249.6GDNF, SDHB, SDHC, FH
24aspartate448.6SDHB, GDNF, RET, FH
25vegf448.5VHL, SDHC, SDHB, RET, GDNF
26iron44 249.4VHL, SDHD, SDHC, SDHA, GDNF, SDHB
27atp44 289.3GDNF, RET, FH, SDHB
28succinate448.2VHL, FH, RET, SDHA, SDHC, SDHD
29tyrosine448.0FH, SDHB, GDNF, VHL, RET
30glucose448.0GDNF, VHL, SDHB, FH
31oxygen44 248.8VHL, FH, SDHD, SDHC, SDHA, GDNF

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.2SDHA, SDHC, SDHD, SDHB
2mitochondrial respiratory chain complex IIGO:00057499.1SDHA, SDHC, SDHD, SDHB
3mitochondrionGO:00057397.1SDHB, SDHD, SDHAF2, SDHC, SDHA, FH

Biological processes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.0SDHB, SDHA
2aerobic respirationGO:00090609.8SDHC, SDHB
3retina development in camera-type eyeGO:00600419.5MAX, RET
4respiratory electron transport chainGO:00229049.4SDHA, SDHC, SDHD, SDHB
5enteric nervous system developmentGO:00484849.3RET, GDNF
6neural crest cell migrationGO:00017558.9RET, GDNF
7tricarboxylic acid cycleGO:00060998.8FH, SDHA, SDHC, SDHD, SDHB
8cellular metabolic processGO:00442378.8SDHB, SDHD, SDHC, SDHA, FH
9small molecule metabolic processGO:00442818.5SDHB, SDHD, SDHC, SDHA, FH

Molecular functions related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:00081779.8SDHA, SDHB
2ubiquinone bindingGO:00480399.6SDHB, SDHD
3succinate dehydrogenase activityGO:00001049.5SDHA, SDHC, SDHD
4electron carrier activityGO:00090559.5SDHC, SDHD, SDHB

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet