MCID: HRD031
MIFTS: 39

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Aliases & Descriptions for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 23 24 25
Hereditary Pheochromocytoma-Paraganglioma 47 25 53 26
Hereditary Paraganglioma-Pheochromocytoma 47 25
Familial Pheochromocytoma-Paraganglioma 47 53
Familial Nonchromaffin Paragangliomas 23 24
Familial Glomus Tumors 23 24
Paragangliomas 2 25 67
Paragangliomas 4 25 67
 
Paragangliomas 3 25 67
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Sdhx-Related Paraganglioma-Pheochromocytoma 47
Familial Paraganglioma Syndrome 25
Paragangliomas 1 25
Paraganglioma 67
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

53
hereditary pheochromocytoma-paraganglioma:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult

GeneReviews:

23
Penetrance: age-related penetrance. pathogenic variants in the genes encoding the subunits of sdh appear to have a high but age-related penetrance (table 3). data, however, are limited [neumann et al 2004, benn et al 2006, jafri et al 2013]...


Classifications:



External Ids:

Orphanet53 ORPHA29072
ICD10 via Orphanet30 C74.1, C75.5, D35.0 D35.6, more

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Genetics Home Reference:25 Hereditary paraganglioma-pheochromocytoma is an inherited 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 pheochromocytoma, and has symptoms including aphonia, aphonia and aphonia. An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways are G-protein signaling_H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. Affiliated tissues include adrenal gland and kidney, and related mouse phenotype mortality/aging.

GeneReviews for NBK1548

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 432.6SDHA, SDHB
2pheochromocytoma25.5FH, GDNF, KIF1B, MAX, RET, SDHA
3max-related hereditary paraganglioma-pheochromocytoma syndrome12.1
4sdha-related hereditary paraganglioma-pheochromocytoma syndrome12.1
5paragangliomas 311.3
6paragangliomas 211.3
7paragangliomas 1, with or without deafness11.3
8pancreatitis, pediatric10.5SDHC, SDHD
9cowden syndrome 210.5SDHA, SDHB
10paragangliomas 510.5SDHA, SDHB
11albinism, oculocutaneous, type iv10.4SDHA, SDHB
12salpingo-oophoritis10.4SDHA, SDHD
13large cell medulloblastoma10.4SDHA, SDHB
14thyroid crisis10.3SDHA, SDHD
15immunodeficiency, common variable, 510.3RET, SDHB, SDHD
16carcinoid tumors, intestinal10.3SDHB, SDHC, SDHD
17neurofibromatosis-noonan syndrome10.3SDHB, SDHC, SDHD
18lipoma of the rectum10.3SDHB, SDHC, SDHD
19prostatic urethral cancer10.3FH, RET
20gars-associated axonal neuropathy10.2FH, VHL
21pediatric infratentorial ependymoma10.1SDHB, SDHD
22calabro syndrome10.1GDNF, RET
23hypogonadism cardiomyopathy10.0GDNF, RET
24renal tubular transport disease10.0TMEM127, VHL
25central hypoventilation syndrome, congenital10.0GDNF, RET
26paraganglioma and gastric stromal sarcoma10.0SDHA, SDHB, SDHC, SDHD
27multiple endocrine neoplasia iib10.0GDNF, RET
28mercaptolactate-cysteine disulfiduria10.0SDHA, SDHB, SDHC, SDHD
29endocrine gland cancer10.0SDHA, SDHB, SDHC, SDHD
30perineocele10.0GDNF, RET
31gastrointestinal stromal tumor10.0SDHA, SDHB, SDHC, SDHD
32nonsyndromic congenital nail disorder 29.9GDNF, RET
33pulmonary coin lesion9.9GDNF, RET
34shprintzen-goldberg syndrome9.9GDNF, RET
35cystadenoma9.9FH, SDHB, VHL
36torticollis, familial9.9FH, SDHB, SDHC, SDHD
37hirschsprung disease 19.9GDNF, RET
38hiatus hernia9.8GDNF, RET
39gnathomiasis9.8GDNF, RET
40seminal vesicle cystadenoma9.7RET, SDHAF2, SDHB, SDHC, SDHD
41uterine corpus endometrial carcinoma9.7RET, SDHAF2, SDHB, SDHC, SDHD
42richter's syndrome9.7RET, SDHAF2, SDHB, SDHC, SDHD
43nonsyndromic holoprosencephaly9.7GDNF, RET, VHL
44von hippel-lindau syndrome9.7RET, SDHB, SDHC, SDHD, VHL
45neuroendocrine carcinoma of the cervix9.6SDHA, SDHAF2, SDHB, SDHC, SDHD
46glycogen storage disease ib9.6SDHA, SDHAF2, SDHB, SDHC, SDHD
47renal cell carcinoma9.6FH, SDHB, SDHD, VHL
48postgastrectomy syndrome9.5GDNF, RET
49steroid-induced glaucoma9.3SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
50sporadic secreting paraganglioma9.2MAX, RET, SDHB, SDHC, SDHD, 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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UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

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 Syndromes26 24 SDHD

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107685.9FH, GDNF, KIF1B, MAX, RET, SDHA

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:

5 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)SNVPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
2SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)SNVLikely pathogenic, Pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
3SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)SNVPathogenicrs74315368GRCh37Chr 1, 17349143: 17349143
4SDHBNM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs)deletionPathogenicrs587781266GRCh38Chr 1, 17022654: 17022657
5SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)SNVPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
6SDHBNM_003000.2(SDHB): c.136C> T (p.Arg46Ter)SNVPathogenicrs74315370GRCh38Chr 1, 17044825: 17044825
7SDHBNM_003000.2(SDHB): c.72+1G> TSNVPathogenicrs587782703GRCh38Chr 1, 17053947: 17053947
8SDHCNM_003001.3(SDHC): c.397C> T (p.Arg133Ter)SNVPathogenicrs764575966GRCh37Chr 1, 161326622: 161326622
9SDHBNM_003000.2(SDHB): c.137G> A (p.Arg46Gln)SNVPathogenicrs772551056GRCh37Chr 1, 17371319: 17371319
10SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)SNVLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
11SDHBNM_003000.2(SDHB): c.343C> T (p.Arg115Ter)SNVPathogenicrs751000085GRCh37Chr 1, 17355175: 17355175
12SDHDNM_003002.3(SDHD): c.284T> C (p.Leu95Pro)SNVPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
13SDHBNM_003000.2(SDHB): c.-151-?_*159+?deldeletionPathogenicChr na, -1: -1
14SDHBNM_003000.2(SDHB): c.126delT (p.Phe42Leufs)deletionPathogenicrs878854572GRCh38Chr 1, 17044835: 17044835
15SDHBNM_003000.2(SDHB): c.271A> T (p.Arg91Ter)SNVPathogenicrs878854575GRCh38Chr 1, 17033075: 17033075
16SDHCNM_003001.3(SDHC): c.406-?_*2318+?deldeletionPathogenicChr na, -1: -1
17SDHDNM_003002.3(SDHD): c.-84-?_*831+?deldeletionPathogenicChr na, -1: -1
18SDHDNM_003002.3(SDHD): c.10dupC (p.Leu4Profs)duplicationPathogenicrs878854589GRCh37Chr 11, 111957641: 111957641
19SDHDNM_003002.3(SDHD): c.173delG (p.Gly58Alafs)deletionPathogenicrs878854590GRCh37Chr 11, 111959594: 111959594
20SDHDNM_003002.3(SDHD): c.242delC (p.Pro81Argfs)deletionPathogenicrs878854591GRCh38Chr 11, 112088939: 112088939
21TMEM127NM_017849.3(TMEM127): c.-131-?_*3600+?deldeletionPathogenicChr na, -1: -1
22SDHBNM_003000.2(SDHB): c.423+1G> ASNVPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
23SDHCNM_003001.3(SDHC): c.43C> T (p.Arg15Ter)SNVPathogenicrs201286421GRCh37Chr 1, 161293426: 161293426
24SDHBNM_003000.2(SDHB): c.287-1G> CSNVLikely pathogenic, Pathogenicrs397516833GRCh37Chr 1, 17355232: 17355232
25SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)SNVPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
26SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)SNVPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
27SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)SNVPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
28SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)SNVPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
29SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)SNVPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
30SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)SNVPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
31SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)SNVPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630

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 pathwaysScoreTop Affiliating Genes
19.3GDNF, RET
29.3GDNF, RET
3
Show member pathways
8.8FH, SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.8FH, SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.8FH, SDHA, SDHB, SDHC, SDHD
6
Show member pathways
8.8FH, SDHA, SDHB, SDHC, SDHD
78.5FH, MAX, RET, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1respiratory chain complex IIGO:004527310.6SDHB, SDHC
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:000574910.0SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057439.3SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057397.2FH, KIF1B, SDHA, SDHAF2, SDHB, SDHC

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.4SDHA, SDHB
2mitochondrial electron transport, succinate to ubiquinoneGO:000612110.3SDHAF2, SDHC
3aerobic respirationGO:000906010.1SDHB, SDHC
4respiratory electron transport chainGO:002290410.0SDHA, SDHB
5enteric nervous system developmentGO:00484849.8GDNF, RET
6positive regulation of cell differentiationGO:00455979.7GDNF, VHL
7neural crest cell migrationGO:00017559.6GDNF, RET
8ureteric bud developmentGO:00016579.3GDNF, RET
9tricarboxylic acid cycleGO:00060998.8FH, SDHA, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.2SDHA, SDHB
2ubiquinone bindingGO:004803910.0SDHB, SDHD
3succinate dehydrogenase activityGO:00001049.9SDHA, SDHC, SDHD
4electron carrier activityGO:00090559.6SDHB, SDHC, SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet