MCID: HRD031
MIFTS: 39

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

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

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Aliases & Descriptions for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 21 22 23
Hereditary Pheochromocytoma-Paraganglioma 45 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:

51
hereditary pheochromocytoma-paraganglioma:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult

Classifications:



External Ids:

Orphanet51 29072
ICD10 via Orphanet28 C74.1, C75.5, D35.0 D35.6, more
UMLS65 C1866552, C1854336, C1861848

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 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 p38 MAPK Signaling Pathway (WikiPathways) and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include kidney, adrenal gland and prostate, and related mouse phenotype mortality/aging.

GeneReviews summary 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 432.9SDHA, SDHB
2pheochromocytoma25.1FH, GDNF, KIF1B, MAX, RET, SDHA
3max-related hereditary paraganglioma-pheochromocytoma syndrome12.3
4sdha-related hereditary paraganglioma-pheochromocytoma syndrome12.3
5paragangliomas 311.4
6paragangliomas 211.4
7paragangliomas 1, with or without deafness11.4
8epidermal appendage tumor10.6SDHB, SDHD
9cowden syndrome 210.5SDHA, SDHB
10paragangliomas 510.5SDHA, SDHB
11albinism, oculocutaneous, type iv10.5SDHA, SDHB
12acute salpingo-oophoritis10.5SDHA, SDHD
13male reproductive organ cancer10.5SDHA, SDHB
14senile entropion10.4SDHA, SDHD
15immunodeficiency, common variable, 510.4RET, SDHB, SDHD
16leiomyomatosis and renal cell cancer10.4FH, SDHB
17adenomyoma10.3SDHB, SDHC, SDHD
18neurofibromatosis, familial spinal10.3SDHB, SDHC, SDHD
19prostatic urethra urothelial carcinoma10.3FH, RET
20peptic ulcer disease10.3SDHB, SDHD
21paraganglioma10.2
22alcoholic cardiomyopathy10.2SDHA, SDHD
23gallbladder leiomyoma10.1FH, SDHB
24carcinoid tumors, intestinal10.1RET, SDHB, SDHC, SDHD
25central hypoventilation syndrome, congenital10.1GDNF, RET
26cerebellar liponeurocytoma10.1RET, SDHB, SDHC, SDHD
27steroid inherited metabolic disorder10.1RET, SDHB, SDHC, SDHD
28g6pc3 deficiency10.1FH, VHL
29decubitus ulcer10.1RET, SDHB, SDHC, SDHD
30pyloric stenosis10.0GDNF, RET
31parametritis10.0GDNF, RET
32paraganglioma and gastric stromal sarcoma10.0SDHA, SDHB, SDHC, SDHD
33carnitine palmitoyltransferase i deficiency , muscle10.0SDHA, SDHB, SDHC, SDHD
34glycogen storage disease ib10.0SDHA, SDHB, SDHC, SDHD
35focal epithelial hyperplasia10.0GDNF, RET
36gastrointestinal stromal tumor10.0SDHA, SDHB, SDHC, SDHD
37shprintzen-goldberg syndrome9.9GDNF, RET
38hirschsprung disease 19.9GDNF, RET
39anal spasm9.9GDNF, RET
40familial stomach cancer9.9FH, SDHB, SDHC, SDHD
41mononeuritis of upper limb and mononeuritis multiplex9.8RET, SDHAF2, SDHB, SDHC, SDHD
42retroperitoneal neuroblastoma9.8RET, SDHAF2, SDHB, SDHC, SDHD
43papillary serous adenocarcinoma9.7FH, SDHB, VHL
44neuroaxonal dystrophy renal tubular acidosis9.7SDHA, SDHAF2, SDHB, SDHC, SDHD
45preretinal fibrosis9.7GDNF, RET
46multiple endocrine neoplasia iib9.6GDNF, RET, SDHB, SDHD
47renal cell carcinoma9.5FH, SDHB, SDHD, VHL
48cataract hutterite type9.5KIF1B, RET, SDHB, SDHD, TMEM127
49gallbladder adenoma9.5KIF1B, RET, SDHB, SDHD, TMEM127
50cataract 4, multiple types9.5KIF1B, RET, SDHB, SDHD, TMEM127

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 Syndromes22 SDHD

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

33
Kidney, Adrenal gland, Prostate

Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.1FH, 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 21)
id Gene Variation Type Significance SNP ID Assembly Location
1SDHBNM_003000.2(SDHB): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs74315366GRCh37Chr 1, 17359573: 17359573
2SDHBNM_003000.2(SDHB): c.590C> G (p.Pro197Arg)single nucleotide variantPathogenicrs74315367GRCh37Chr 1, 17350520: 17350520
3SDHBNM_003000.2(SDHB): c.725G> A (p.Arg242His)single nucleotide variantPathogenicrs74315368GRCh37Chr 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)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
6TMEM127NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs)deletionLikely pathogenicrs727503490GRCh37Chr 2, 96920672: 96920672
7SDHBNM_003000.2(SDHB): c.260T> C (p.Leu87Ser)single nucleotide variantLikely pathogenicrs727504457GRCh37Chr 1, 17359581: 17359581
8SDHDNM_003002.3(SDHD): c.*(?_286)_*(387_?)deldeletionLikely pathogenicGRCh37Chr 11, 111965980: 111966081
9SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
10SDHBNM_003000.2(SDHB): c.343C> T (p.Arg115Ter)single nucleotide variantPathogenicrs751000085GRCh37Chr 1, 17355175: 17355175
11SDHDNM_003002.3(SDHD): c.284T> C (p.Leu95Pro)single nucleotide variantPathogenicrs80338846GRCh37Chr 11, 111959705: 111959705
12SDHBNM_003000.2(SDHB): c.287-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516833GRCh37Chr 1, 17355232: 17355232
13SDHBNM_003000.2(SDHB): c.600G> A (p.Trp200Ter)single nucleotide variantLikely pathogenicrs397516836GRCh37Chr 1, 17350510: 17350510
14SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
15SDHDNM_003002.3(SDHD): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs34677591GRCh37Chr 11, 111957665: 111957665
16SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
17SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
18SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)single nucleotide variantPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
19SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
20SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
21SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630

Cosmic variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

7 (show all 14)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM18097VHLautonomic ganglia,head neck,paraganglioma,benign28
2COSM499HRASadrenal gland,adrenal gland,pheochromocytoma,benign23
3COSM17662VHLadrenal gland,adrenal gland,pheochromocytoma,benign23
4COSM30670NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
5COSM220089NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
6COSM327927NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
7COSM329089NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
8COSM329093NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
9COSM330587NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
10COSM330588NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
11COSM965RETadrenal gland,adrenal gland,pheochromocytoma,benign23
12COSM327926NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
13COSM329090NF1adrenal gland,adrenal gland,pheochromocytoma,benign23
14COSM329092NF1adrenal gland,adrenal gland,pheochromocytoma,benign23

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
1
Show member pathways
9.6GDNF, MAX
29.5GDNF, RET
39.5GDNF, RET
4
Show member pathways
9.3SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.7FH, SDHA, SDHB, SDHC, SDHD
6
Show member pathways
8.7FH, SDHA, SDHB, SDHC, SDHD
7
Show member pathways
8.7FH, SDHA, SDHB, SDHC, SDHD
8
Show member pathways
8.7FH, SDHA, SDHB, SDHC, SDHD
98.3FH, MAX, RET, VHL

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

idNameGO IDScoreTop Affiliating Genes
1succinate metabolic processGO:000610510.1SDHA, SDHB
2retina development in camera-type eyeGO:00600419.7MAX, RET

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

idNameGO IDScoreTop Affiliating Genes
1succinate dehydrogenase (ubiquinone) activityGO:000817710.1SDHA, SDHB
2electron carrier activityGO:00090559.9SDHB, SDHD
3oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.5SDHA, SDHC

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet