FPGL
MCID: HRD031
MIFTS: 40

Hereditary Paraganglioma-Pheochromocytoma Syndromes (FPGL) malady

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

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Aliases & Descriptions for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 23 24 25
Hereditary Pheochromocytoma-Paraganglioma 50 25 56 29
Hereditary Paraganglioma-Pheochromocytoma 50 25
Familial Pheochromocytoma-Paraganglioma 50 56
Familial Nonchromaffin Paragangliomas 23 24
Familial Glomus Tumors 23 24
Paragangliomas 4 25 69
Paragangliomas 3 25 69
Paragangliomas 2 25 69
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Sdhx-Related Paraganglioma-Pheochromocytoma 50
Familial Paraganglioma Syndrome 25
Paragangliomas 1 25
Paraganglioma 69
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

56
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:

Orphanet 56 ORPHA29072
ICD10 via Orphanet 34 C74.1 C75.5 D35.0 more

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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 An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Pathways in cancer and Carbon metabolism. Affiliated tissues include kidney and adrenal gland, and related phenotypes are Decreased viability and mortality/aging

GeneReviews: NBK1548

Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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)
id Related Disease Score Top Affiliating Genes
1 pheochromocytoma 28.1 FH GDNF KIF1B MAX RET SDHA
2 max-related hereditary paraganglioma-pheochromocytoma syndrome 12.1
3 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 12.1
4 paragangliomas 4 11.3
5 paragangliomas 3 11.3
6 paragangliomas 2 11.3
7 paragangliomas 1, with or without deafness 11.3
8 acromegaly 11.2
9 acute salpingitis 10.2 SDHA SDHD
10 medullomyoblastoma 10.1 SDHA SDHB
11 prolapse of female genital organ 10.1 SDHA SDHD
12 pelger-huet anomaly 10.1 FH SDHB
13 paraganglioma 10.1
14 meigel disease 10.1 GDNF RET
15 leukemia, acute promyelocytic, somatic 10.1 RET SDHB SDHD
16 paraganglioma and gastric stromal sarcoma 10.1 SDHB SDHC SDHD
17 glioma susceptibility 2 10.1 SDHB SDHC SDHD
18 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.1 GDNF RET
19 serous surface papilloma 10.1 SDHB SDHC SDHD
20 neurofibromatosis-noonan syndrome 10.1 SDHB SDHC SDHD
21 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.0 FH VHL
22 rectum kaposi's sarcoma 10.0 FH RET
23 hirschsprung disease 1 10.0 GDNF RET
24 glomangioma 10.0 SDHB SDHD
25 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.0 SDHA SDHB SDHC SDHD
26 childhood teratocarcinoma of the testis 10.0 RET SDHB SDHC SDHD
27 gastrointestinal stromal tumor 9.9 SDHA SDHB SDHC SDHD
28 benign shuddering attacks 9.9 RET SDHB SDHC SDHD
29 seborrheic dermatitis 9.9 RET SDHB SDHD VHL
30 central hypoventilation syndrome, congenital 9.9 GDNF RET SDHB SDHD
31 ovarian brenner tumor 9.9 FH SDHB VHL
32 neuropathy, congenital, with arthrogryposis multiplex 9.8 SDHA SDHAF2 SDHB SDHC SDHD
33 glycogen storage disease ic 9.8 SDHA SDHAF2 SDHB SDHC SDHD
34 intravenous leiomyomatosis 9.8 RET SDHAF2 SDHB SDHC SDHD
35 catastrophic antiphospholipid syndrome 9.8 RET SDHB SDHD TMEM127 VHL
36 endocervical adenocarcinoma 9.8 RET SDHAF2 SDHB SDHC SDHD
37 acrocapitofemoral dysplasia 9.8 RET SDHB SDHD TMEM127 VHL
38 bone ameloblastoma 9.8 RET SDHB SDHD TMEM127 VHL
39 erythrocytosis, familial, 2 9.8 RET SDHB SDHC SDHD VHL
40 non-syndromic male infertility due to sperm motility disorder 9.7 MAX RET SDHB SDHC SDHD VHL
41 carotenemia 9.7 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
42 aneurysm 9.6 GDNF RET SDHB SDHC VHL
43 cardiac arrest 9.5 RET SDHA SDHAF2 SDHB SDHC SDHD
44 cowden syndrome 3 9.5 FH RET SDHA SDHB SDHC SDHD
45 non-syndromic x-linked intellectual disability 9.5 RET SDHAF2 SDHB SDHC SDHD TMEM127
46 zollinger-ellison syndrome 9.1 FH RET SDHA SDHAF2 SDHB SDHC
47 isolated methylmalonic acidemia 8.5 FH 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

UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.47 SDHD VHL RET
2 Decreased viability GR00221-A-2 9.47 SDHD VHL MAX RET
3 Decreased viability GR00221-A-3 9.47 MAX
4 Decreased viability GR00221-A-4 9.47 SDHD RET
5 Decreased viability GR00231-A 9.47 RET
6 Decreased viability GR00301-A 9.47 VHL RET
7 Decreased viability GR00381-A-1 9.47 SDHD

MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 SDHC SDHD VHL FH GDNF KIF1B

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Interventional clinical trials:


id Name Status NCT ID Phase
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Genetic test Affiliating Genes
1 Hereditary Paraganglioma-Pheochromocytoma Syndromes 29 24 SDHD

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

39
Kidney, Adrenal Gland

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Title Authors Year
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

ClinVar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

6 (show top 50) (show all 80)
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh37 Chromosome 11, 61205292: 61205292
2 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh37 Chromosome 11, 111958634: 111958634
3 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
4 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh38 Chromosome 11, 112086961: 112086961
5 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh37 Chromosome 11, 111965657: 111965657
6 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
7 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
8 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
9 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh38 Chromosome 11, 112094827: 112094828
10 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
11 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
12 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
13 SDHD NM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del) deletion Pathogenic rs121908983 GRCh37 Chromosome 11, 111959698: 111959700
14 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634
15 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh37 Chromosome 11, 111965630: 111965630
16 SDHD NM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs) deletion Pathogenic rs397514034 GRCh37 Chromosome 11, 111958622: 111958623
17 SDHD NM_003002.3(SDHD): c.463delA (p.Met155Cysfs) deletion Pathogenic rs587776647 GRCh38 Chromosome 11, 112094953: 112094953
18 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
19 SDHD NM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh38 Chromosome 11, 112094827: 112094830
20 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
21 SDHD SDHD, 96-KB DEL deletion Pathogenic
22 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 GRCh37 Chromosome 1, 161284198: 161284198
23 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
24 SDHC SDHC, 8,372-BP DEL deletion Pathogenic
25 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
26 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
27 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
28 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
29 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
30 SDHB SDHB, 1.0-KB DEL, EX1 deletion Pathogenic
31 SDHB NM_003000.2(SDHB): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs74315372 GRCh37 Chromosome 1, 17355123: 17355123
32 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
33 SDHB SDHB, 15.69-KB DEL, EX1 deletion Pathogenic
34 SDHB SDHB, 20.3-KB DEL, EX1 deletion Pathogenic
35 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh37 Chromosome 11, 111959705: 111959705
36 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
37 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
38 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
39 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Likely pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
40 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
41 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
42 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh37 Chromosome 1, 17371320: 17371320
43 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
44 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Likely pathogenic rs727504457 GRCh37 Chromosome 1, 17359581: 17359581
45 TMEM127 NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs) deletion Likely pathogenic rs727503490 GRCh37 Chromosome 2, 96920672: 96920672
46 SDHD NM_003002.3(SDHD): c.*(?_286)_*(387_?)del deletion Likely pathogenic GRCh37 Chromosome 11, 111965980: 111966081
47 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
48 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh37 Chromosome 1, 17349144: 17349144
49 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
50 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138

Expression for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search GEO for disease gene expression data for Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Pathways for Hereditary Paraganglioma-Pheochromocytoma Syndromes

GO Terms for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.56 SDHA SDHB SDHC SDHD
2 mitochondrion GO:0005739 9.56 FH KIF1B SDHA SDHAF2 SDHB SDHC
3 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell differentiation GO:0045597 9.46 GDNF VHL
2 ureteric bud development GO:0001657 9.43 GDNF RET
3 aerobic respiration GO:0009060 9.4 SDHB SDHC
4 neural crest cell migration GO:0001755 9.37 GDNF RET
5 respiratory electron transport chain GO:0022904 9.32 SDHA SDHB
6 enteric nervous system development GO:0048484 9.26 GDNF RET
7 succinate metabolic process GO:0006105 9.16 SDHA SDHB
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHAF2 SDHD
9 tricarboxylic acid cycle GO:0006099 9.1 FH SDHA SDHAF2 SDHB SDHC SDHD

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
3 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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42 MeSH
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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