FPGL
MCID: HRD031
MIFTS: 40

Hereditary Paraganglioma-Pheochromocytoma Syndromes (FPGL) 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 48 25 54 27
Hereditary Paraganglioma-Pheochromocytoma 48 25
Familial Pheochromocytoma-Paraganglioma 48 54
Familial Nonchromaffin Paragangliomas 23 24
Familial Glomus Tumors 23 24
Paragangliomas 2 25 68
Paragangliomas 4 25 68
 
Paragangliomas 3 25 68
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Sdhx-Related Paraganglioma-Pheochromocytoma 48
Familial Paraganglioma Syndrome 25
Paragangliomas 1 25
Paraganglioma 68
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

54
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:

Orphanet54 ORPHA29072
ICD10 via Orphanet31 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 pheochromocytoma and max-related hereditary paraganglioma-pheochromocytoma syndrome, 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 phenotypes are Decreased viability and 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma28.1FH, GDNF, KIF1B, MAX, RET, SDHA
2max-related hereditary paraganglioma-pheochromocytoma syndrome12.1
3sdha-related hereditary paraganglioma-pheochromocytoma syndrome12.1
4paragangliomas 411.3
5paragangliomas 311.3
6paragangliomas 211.3
7paragangliomas 1, with or without deafness11.3
8acromegaly11.2
9acute salpingitis10.2SDHA, SDHD
10medullomyoblastoma10.1SDHA, SDHB
11prolapse of female genital organ10.1SDHA, SDHD
12pelger-huet anomaly10.1FH, SDHB
13paraganglioma10.1
14meigel disease10.1GDNF, RET
15leukemia, acute promyelocytic, somatic10.1RET, SDHB, SDHD
16paraganglioma and gastric stromal sarcoma10.1SDHB, SDHC, SDHD
17glioma susceptibility 210.1SDHB, SDHC, SDHD
18hypoparathyroidism-intellectual disability-dysmorphism syndrome10.1GDNF, RET
19serous surface papilloma10.1SDHB, SDHC, SDHD
20neurofibromatosis-noonan syndrome10.1SDHB, SDHC, SDHD
21gtp cyclohydrolase 1-deficient dopa-responsive dystonia10.0FH, VHL
22rectum kaposi's sarcoma10.0FH, RET
23hirschsprung disease 110.0GDNF, RET
24glomangioma10.0SDHB, SDHD
25amaurosis congenita, cone-rod type, with congenital hypertrichosis10.0SDHA, SDHB, SDHC, SDHD
26childhood teratocarcinoma of the testis10.0RET, SDHB, SDHC, SDHD
27gastrointestinal stromal tumor9.9SDHA, SDHB, SDHC, SDHD
28benign shuddering attacks9.9RET, SDHB, SDHC, SDHD
29seborrheic dermatitis9.9RET, SDHB, SDHD, VHL
30central hypoventilation syndrome, congenital9.9GDNF, RET, SDHB, SDHD
31ovarian brenner tumor9.9FH, SDHB, VHL
32neuropathy, congenital, with arthrogryposis multiplex9.8SDHA, SDHAF2, SDHB, SDHC, SDHD
33glycogen storage disease ic9.8SDHA, SDHAF2, SDHB, SDHC, SDHD
34intravenous leiomyomatosis9.8RET, SDHAF2, SDHB, SDHC, SDHD
35catastrophic antiphospholipid syndrome9.8RET, SDHB, SDHD, TMEM127, VHL
36endocervical adenocarcinoma9.8RET, SDHAF2, SDHB, SDHC, SDHD
37acrocapitofemoral dysplasia9.8RET, SDHB, SDHD, TMEM127, VHL
38bone ameloblastoma9.8RET, SDHB, SDHD, TMEM127, VHL
39erythrocytosis, familial, 29.8RET, SDHB, SDHC, SDHD, VHL
40non-syndromic male infertility due to sperm motility disorder9.7MAX, RET, SDHB, SDHC, SDHD, VHL
41carotenemia9.7SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127
42aneurysm9.6GDNF, RET, SDHB, SDHC, VHL
43cardiac arrest9.5RET, SDHA, SDHAF2, SDHB, SDHC, SDHD
44cowden syndrome 39.5FH, RET, SDHA, SDHB, SDHC, SDHD
45non-syndromic x-linked intellectual disability9.5RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127
46zollinger-ellison syndrome9.1FH, RET, SDHA, SDHAF2, SDHB, SDHC
47isolated methylmalonic acidemia8.5FH, GDNF, KIF1B, MAX, RET, SDHA

Graphical network of the top 20 diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:



Diseases related to hereditary paraganglioma-pheochromocytoma syndromes

Symptoms & Phenotypes for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-19.6MAX, RET, SDHD, VHL

MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.0FH, GDNF, KIF1B, MAX, RET, SDHA

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268

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 Syndromes27 24 SDHD

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

36
Adrenal gland, Kidney

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 17)
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)SNVPathogenic/ Likely pathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
3TMEM127NM_ 017849.3(TMEM127): c.308delG (p.Gly103Alafs)deletionLikely pathogenicrs727503490GRCh37Chr 2, 96920672: 96920672
4SDHBNM_ 003000.2(SDHB): c.260T> C (p.Leu87Ser)SNVLikely pathogenicrs727504457GRCh37Chr 1, 17359581: 17359581
5SDHDNM_ 003002.3(SDHD): c.*(?_ 286)_ *(387_ ?)deldeletionLikely pathogenicGRCh37Chr 11, 111965980: 111966081
6SDHDNM_ 003002.3(SDHD): c.284T> C (p.Leu95Pro)SNVPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
7TMEM127NM_ 017849.3(TMEM127): c.-131-?_ *3600deldeletionPathogenicGRCh37Chr 2, 96915946: 96931250
8MAXNM_ 002382.4(MAX): c.211_ 221delATCCAGTATAT (p.Ile71Alafs)deletionPathogenicrs1060500101GRCh38Chr 14, 65077987: 65077997
9MAXNC_ 000014.9: g.(?_ 65101546)_ (65102544_ ?)deldeletionPathogenicGRCh37Chr 14, 65568264: 65569262
10SDHBNM_ 003000.2(SDHB): c.287-1G> CSNVPathogenic/ Likely pathogenicrs397516833GRCh37Chr 1, 17355232: 17355232
11SDHBNM_ 003000.2(SDHB): c.600G> A (p.Trp200Ter)SNVLikely pathogenicrs397516836GRCh37Chr 1, 17350510: 17350510
12SDHDNM_ 003002.3(SDHD): c.112C> T (p.Arg38Ter)SNVPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
13SDHDNM_ 003002.3(SDHD): c.242C> T (p.Pro81Leu)SNVPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
14SDHDNM_ 003002.3(SDHD): c.274G> T (p.Asp92Tyr)SNVPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
15SDHDNM_ 003002.3(SDHD): c.341A> G (p.Tyr114Cys)SNVPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
16SDHDNM_ 003002.3(SDHD): c.3G> C (p.Met1Ile)SNVPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
17SDHDNM_ 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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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:00057439.9SDHA, SDHB, SDHC, SDHD
2mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)GO:00057499.9SDHA, SDHB, SDHC, SDHD
3respiratory chain complex IIGO:00452739.8SDHB, SDHC
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
1aerobic respirationGO:000906010.4SDHB, SDHC
2respiratory electron transport chainGO:002290410.3SDHA, SDHB
3succinate metabolic processGO:000610510.3SDHA, SDHB
4mitochondrial electron transport, succinate to ubiquinoneGO:000612110.0SDHA, SDHAF2, SDHD
5positive regulation of cell differentiationGO:00455979.7GDNF, VHL
6enteric nervous system developmentGO:00484849.6GDNF, RET
7neural crest cell migrationGO:00017559.6GDNF, RET
8ureteric bud developmentGO:00016579.0GDNF, RET
9tricarboxylic acid cycleGO:00060998.7FH, SDHA, SDHAF2, SDHB, SDHC, SDHD

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the CH-CH group of donorsGO:001662710.0SDHA, SDHC
2ubiquinone bindingGO:00480399.9SDHB, SDHD
3succinate dehydrogenase (ubiquinone) activityGO:00081779.8SDHA, SDHB, SDHD
4succinate dehydrogenase activityGO:00001049.6SDHA, SDHC, SDHD
5electron carrier activityGO:00090559.6SDHA, SDHB, SDHC, SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet