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 21 23
Hereditary Pheochromocytoma-Paraganglioma 45 22 23 51 24
Hereditary Paraganglioma-Pheochromocytoma 45 23
Familial Pheochromocytoma-Paraganglioma 45 51
Familial Nonchromaffin Paragangliomas 21 22
Familial Glomus Tumors 21 22
Paragangliomas 4 23 65
Paragangliomas 2 23 65
Paragangliomas 3 23 65
Familial Paraganglioma-Pheochromocytoma Syndromes 23
Sdhx-Related Paraganglioma-Pheochromocytoma 45
Paragangliomas 1 23
Paraganglioma 65


Characteristics (Orphanet epidemiological data):

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

External Ids:

Orphanet51 29072
ICD10 via Orphanet28 C74.1, C75.5, D35.0 D35.6, more

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Genetics Home Reference:23 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 4 and paragangliomas 1, with or without deafness. 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 Signaling events regulated by Ret tyrosine kinase and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include adrenal gland and kidney, and related mouse phenotype 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 top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 431.0SDHA, SDHB
2paragangliomas 1, with or without deafness30.9SDHB, SDHC, SDHD
3pheochromocytoma28.6FH, GDNF, KIF1B, MAX, RET, SDHA
4max-related hereditary paraganglioma-pheochromocytoma syndrome10.6
5sdha-related hereditary paraganglioma-pheochromocytoma syndrome10.6
6paragangliomas 310.5
7paragangliomas 210.5
9cowden syndrome 210.2SDHA, SDHB
10cardiomyopathy, dilated, 1gg10.2SDHA, SDHB
11heart conduction disease10.2SDHB, SDHC
12paragangliomas 510.2SDHA, SDHB
13glossitis10.2SDHB, SDHD
14seminoma10.2SDHA, SDHB
15chondromalacia10.1SDHB, SDHC, SDHD
16multiple endocrine neoplasia 110.1RET, SDHB, SDHD
17neurofibromatosis, familial spinal10.1SDHB, SDHC, SDHD
18rothmund-thomson syndrome type 210.1SDHA, SDHB, SDHD
19leiomyomatosis and renal cell cancer10.1FH, SDHB
20g6pc3 deficiency10.1FH, VHL
21prostatic urethra urothelial carcinoma10.1FH, RET
22deep leiomyoma10.0RET, SDHB, SDHC, SDHD
23leiomyosarcoma10.0FH, SDHB
24hypogonadism cardiomyopathy10.0GDNF, RET
25paraganglioma and gastric stromal sarcoma10.0SDHA, SDHB, SDHC, SDHD
26carnitine palmitoyltransferase i deficiency , muscle10.0SDHA, SDHB, SDHC, SDHD
27mitochondrial complex ii deficiency10.0SDHA, SDHB, SDHC, SDHD
28cell type cancer10.0FH, RET, VHL
29multiple endocrine neoplasia iib10.0GDNF, RET
30gastrointestinal system disease10.0SDHA, SDHB, SDHC, SDHD
31gastrointestinal stromal tumor10.0SDHA, SDHB, SDHC, SDHD
32ornithosis10.0GDNF, RET
33central hypoventilation syndrome, congenital9.9GDNF, RET
34familial streblodactyly9.9FH, SDHB, SDHC, SDHD
35cervical neuroblastoma9.9RET, SDHAF2, SDHB, SDHC, SDHD
36neuromuscular disease9.9GDNF, RET
37kidney disease9.9FH, SDHB, VHL
38von hippel-lindau syndrome9.9RET, SDHB, SDHC, SDHD, VHL
39neuroaxonal dystrophy renal tubular acidosis9.9SDHA, SDHAF2, SDHB, SDHC, SDHD
40ovarian endometrioid cystadenofibroma9.9RET, SDHB, SDHC, SDHD, VHL
41renal cell carcinoma9.9FH, SDHB, SDHD, VHL
42pylorus cancer9.9GDNF, RET
43lymphadenitis9.8SDHAF2, SDHB, SDHC, SDHD, TMEM127
44intestinal perforation9.8GDNF, RET
45verruciform xanthoma of skin9.8RET, SDHA, SDHAF2, SDHB, SDHC, SDHD
46synostosis - microcephaly - scoliosis9.7MAX, RET, SDHB, SDHC, SDHD, VHL
47lung abscess9.7SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
48myopathy with deficiency of iron-sulfur cluster assembly enzyme9.7GDNF, RET, SDHB, SDHC, VHL
49anus leiomyoma9.6KIF1B, RET, SDHB, SDHD, TMEM127, VHL
50cataract hutterite type9.6KIF1B, RET, SDHB, SDHD, TMEM127, 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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Interventional clinical trials:

Search ClinicalTrials, 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 Syndromes22 24 SDHD
2 Hereditary Paragangliomas and Pheochromocytomas24

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

Adrenal gland, Kidney

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:00107687.1FH, GDNF, KIF1B, MAX, RET, SDHC

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 67)
id Gene Variation Type Significance SNP ID Assembly Location
1TMEM127NM_017849.3(TMEM127): c.-18C> Tsingle nucleotide variantLikely pathogenicrs121908813GRCh37Chr 2, 96931137: 96931137
2TMEM127NM_017849.3(TMEM127): c.116_119delTGTC (p.Ile41Argfs)deletionLikely pathogenicrs121908816GRCh37Chr 2, 96931001: 96931004
3TMEM127NM_017849.3(TMEM127): c.158G> C (p.Trp53Ser)single nucleotide variantLikely pathogenicrs121908818GRCh37Chr 2, 96930962: 96930962
4TMEM127NM_017849.3(TMEM127): c.208G> A (p.Asp70Asn)single nucleotide variantLikely pathogenicrs121908819GRCh37Chr 2, 96930912: 96930912
5TMEM127NM_017849.3(TMEM127): c.217G> C (p.Gly73Arg)single nucleotide variantLikely pathogenicrs121908820GRCh37Chr 2, 96930903: 96930903
6TMEM127NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs)deletionLikely pathogenicrs121908822GRCh37Chr 2, 96920712: 96920715
7TMEM127NM_017849.3(TMEM127): c.280C> T (p.Arg94Trp)single nucleotide variantLikely pathogenicrs121908824GRCh37Chr 2, 96920700: 96920700
8TMEM127NM_017849.3(TMEM127): c.3G> T (p.Met1Ile)single nucleotide variantLikely pathogenicrs121908814GRCh37Chr 2, 96931117: 96931117
9TMEM127NM_017849.3(TMEM127): c.409+1G> Tsingle nucleotide variantLikely pathogenicrs121908825GRCh37Chr 2, 96920570: 96920570
10TMEM127NM_017849.3(TMEM127): c.418T> C (p.Cys140Arg)single nucleotide variantLikely pathogenicrs121908827GRCh37Chr 2, 96919845: 96919845
11TMEM127NM_017849.3(TMEM127): c.419G> A (p.Cys140Tyr)single nucleotide variantLikely pathogenicrs121908828GRCh37Chr 2, 96919844: 96919844
12TMEM127NM_017849.3(TMEM127): c.447G> A (p.Trp149Ter)single nucleotide variantLikely pathogenicrs121908829GRCh37Chr 2, 96919816: 96919816
13TMEM127NM_017849.3(TMEM127): c.627_640dupGCTGCTCTCAGAGA (p.Met214Serfs)duplicationLikely pathogenicrs121908831GRCh37Chr 2, 96919623: 96919636
14TMEM127NM_017849.3(TMEM127): c.76C> T (p.Gln26Ter)single nucleotide variantLikely pathogenicrs121908815GRCh37Chr 2, 96931044: 96931044
15SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
16SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)single nucleotide variantLikely pathogenic, Pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
17SDHBSDHB, 1-BP DEL, 725CdeletionPathogenic
18SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
19SDHBSDHB, 4-BP DEL, 847NTdeletionPathogenic
20SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
21SDHBSDHB, 1.0-KB DEL, EX1deletionPathogenic
22SDHBNM_003000.2(SDHB): c.136C> G (p.Arg46Gly)single nucleotide variantPathogenicrs74315370GRCh37Chr 1, 17371320: 17371320
23SDHBNM_003000.2(SDHB): c.302G> A (p.Cys101Tyr)single nucleotide variantPathogenicrs74315371GRCh37Chr 1, 17355216: 17355216
24SDHBNM_003000.2(SDHB): c.395A> C (p.His132Pro)single nucleotide variantPathogenicrs74315372GRCh37Chr 1, 17355123: 17355123
25SDHBNM_003000.2(SDHB): c.299C> T (p.Ser100Phe)single nucleotide variantPathogenicrs121917755GRCh37Chr 1, 17355219: 17355219
26RETNM_020630.4(RET): c.1901G> C (p.Cys634Ser)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
27RETNM_020630.4(RET): c.1901G> T (p.Cys634Phe)single nucleotide variantPathogenicrs75996173GRCh37Chr 10, 43609949: 43609949
28RETNM_020630.4(RET): c.1902C> G (p.Cys634Trp)single nucleotide variantPathogenicrs77709286GRCh37Chr 10, 43609950: 43609950
29SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
30SDHBSDHB, 15.69-KB DEL, EX1deletionPathogenic
31SDHBSDHB, 20.3-KB DEL, EX1deletionPathogenic
32SDHBNM_003000.2(SDHB): c.343C> T (p.Arg115Ter)single nucleotide variantPathogenicrs751000085GRCh37Chr 1, 17355175: 17355175
33SDHASDHA, ARG585TRPundetermined variantPathogenic
34SDHANM_004168.2(SDHA): c.223C> T (p.Arg75Ter)single nucleotide variantPathogenicrs781764920GRCh37Chr 5, 224547: 224547
35SDHDNM_003002.3(SDHD): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
36VHLNM_000551.3(VHL): c.188T> C (p.Leu63Pro)single nucleotide variantPathogenicrs104893827GRCh37Chr 3, 10183719: 10183719
37VHLNM_000551.3(VHL): c.277G> A (p.Gly93Ser)single nucleotide variantPathogenicrs5030808GRCh37Chr 3, 10183808: 10183808
38SDHBNM_003000.2(SDHB): c.423+1G> Asingle nucleotide variantPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
39SDHANM_004168.3(SDHA): c.1765C> T (p.Arg589Trp)single nucleotide variantPathogenicrs387906780GRCh37Chr 5, 251554: 251554
40SDHAF2NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg)single nucleotide variantPathogenicrs113560320GRCh37Chr 11, 61205292: 61205292
41SDHCNM_003001.3(SDHC): c.43C> T (p.Arg15Ter)single nucleotide variantPathogenicrs201286421GRCh37Chr 1, 161293426: 161293426
42SDHBNM_003000.2(SDHB): c.287-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516833GRCh37Chr 1, 17355232: 17355232
43SDHDNM_003002.3(SDHD): c.106C> T (p.Gln36Ter)single nucleotide variantPathogenicrs104894303GRCh37Chr 11, 111958634: 111958634
44SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
45SDHDNM_003002.3(SDHD): c.52+2T> Gsingle nucleotide variantPathogenicrs587776644GRCh38Chr 11, 112086961: 112086961
46SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
47SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
48SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
49SDHDNM_003002.3(SDHD): c.305A> T (p.His102Leu)single nucleotide variantPathogenicrs104894302GRCh37Chr 11, 111959726: 111959726
50SDHDNM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs)insertionPathogenicrs587776645GRCh38Chr 11, 112094827: 112094828
51SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)single nucleotide variantPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
52SDHDNM_003002.3(SDHD): c.95C> A (p.Ser32Ter)single nucleotide variantPathogenicrs104894305GRCh37Chr 11, 111958623: 111958623
53SDHDNM_003002.3(SDHD): c.443delG (p.Gly148Alafs)deletionPathogenicrs587776646GRCh38Chr 11, 112094933: 112094933
54SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
55SDHDNM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del)deletionPathogenicrs121908983GRCh37Chr 11, 111959698: 111959700
56SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
57SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630
58SDHDNM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs)deletionPathogenicrs397514034GRCh37Chr 11, 111958622: 111958623
59SDHDNM_003002.3(SDHD): c.463delA (p.Met155Cysfs)deletionPathogenicrs587776647GRCh38Chr 11, 112094953: 112094953
60SDHDNM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs)deletionPathogenicrs587776648GRCh38Chr 11, 112094827: 112094830
61SDHDNM_003002.3(SDHD): c.129G> A (p.Trp43Ter)single nucleotide variantPathogenicrs104894308GRCh37Chr 11, 111958657: 111958657
62SDHDSDHD, 96-KB DELdeletionPathogenic
63SDHDNM_003002.3(SDHD): c.33C> A (p.Cys11Ter)single nucleotide variantPathogenicrs104894309GRCh37Chr 11, 111957664: 111957664
64SDHDNM_003002.3(SDHD): c.14G> A (p.Trp5Ter)single nucleotide variantPathogenicrs104894310GRCh37Chr 11, 111957645: 111957645
65SDHCNM_003001.3(SDHC): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs587776652GRCh37Chr 1, 161284198: 161284198
66SDHCNM_003001.3(SDHC): c.405+1G> Tsingle nucleotide variantPathogenicrs587776653GRCh37Chr 1, 161326631: 161326631
67SDHCSDHC, 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
517662VHLadrenal gland,adrenal gland,pheochromocytoma,benign3
6965RETadrenal 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
p38 MAPK Signaling Pathway (WikiPathways)
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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
1respiratory chain complex IIGO:004527310.5SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.9SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057439.3SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057397.1FH, KIF1B, SDHA, SDHAF2, SDHB, SDHC

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, succinate to ubiquinoneGO:000612110.5SDHAF2, SDHC
2succinate metabolic processGO:000610510.3SDHA, SDHB
3aerobic respirationGO:000906010.0SDHB, SDHC
4enteric nervous system developmentGO:004848410.0GDNF, RET
5neural crest cell migrationGO:00017559.9GDNF, RET
6ureteric bud developmentGO:00016579.6GDNF, RET
7positive regulation of cell differentiationGO:00455979.4GDNF, VHL
8tricarboxylic acid cycleGO:00060999.1FH, SDHA, SDHB, SDHC, SDHD
9respiratory electron transport chainGO:00229049.0SDHA, SDHB, SDHC, SDHD
10cellular metabolic processGO:00442378.7FH, SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:004803910.2SDHB, SDHD
2oxidoreductase activity, acting on the CH-CH group of donorsGO:001662710.1SDHA, SDHC
3succinate dehydrogenase activityGO:00001049.9SDHA, SDHC, SDHD
4succinate dehydrogenase (ubiquinone) activityGO:00081779.9SDHA, SDHB, SDHC
5electron carrier activityGO:00090559.6SDHB, SDHC, SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet