MCID: HRD031
MIFTS: 41

Hereditary Paraganglioma-Pheochromocytoma Syndromes malady

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

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

Aliases & Descriptions for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 22 23 24
Hereditary Pheochromocytoma-Paraganglioma 46 24 52 25
Hereditary Paraganglioma-Pheochromocytoma 46 24
Familial Pheochromocytoma-Paraganglioma 46 52
Familial Nonchromaffin Paragangliomas 22 23
Familial Glomus Tumors 22 23
Paragangliomas 2 24 66
 
Paragangliomas 3 24 66
Paragangliomas 4 24 66
Familial Paraganglioma-Pheochromocytoma Syndromes 24
Sdhx-Related Paraganglioma-Pheochromocytoma 46
Paragangliomas 1 24
Paraganglioma 66

Characteristics:

Orphanet epidemiological data:

52
hereditary pheochromocytoma-paraganglioma:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult

Classifications:



External Ids:

Orphanet52 ORPHA29072
ICD10 via Orphanet29 C74.1, C75.5, D35.0 D35.6, more

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
Genetics Home Reference:24 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 paraganglioma, 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 summary for NBK1548

Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

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 57)
idRelated DiseaseScoreTop Affiliating Genes
1paragangliomas 432.9SDHA, SDHB
2paraganglioma27.7KIF1B, RET, SDHAF2, SDHB, SDHC, SDHD
3pheochromocytoma25.1FH, GDNF, KIF1B, MAX, RET, SDHA
4max-related hereditary paraganglioma-pheochromocytoma syndrome12.3
5sdha-related hereditary paraganglioma-pheochromocytoma syndrome12.3
6paragangliomas 311.4
7paragangliomas 211.4
8paragangliomas 1, with or without deafness11.4
9cowden syndrome 210.5SDHA, SDHB
10paragangliomas 510.5SDHA, SDHB
11albinism, oculocutaneous, type iv10.5SDHA, SDHB
12salpingo-oophoritis10.5SDHA, SDHD
13large cell medulloblastoma10.5SDHA, SDHB
14pancreatitis, pediatric10.5SDHC, SDHD
15thyroid crisis10.4SDHA, SDHD
16immunodeficiency, common variable, 510.4RET, SDHB, SDHD
17prostatic urethral cancer10.3FH, RET
18carcinoid tumors, intestinal10.2SDHB, SDHC, SDHD
19neurofibromatosis-noonan syndrome10.2SDHB, SDHC, SDHD
20lipoma of the rectum10.2SDHB, SDHC, SDHD
21pediatric infratentorial ependymoma10.2SDHB, SDHD
22calabro syndrome10.1GDNF, RET
23hypogonadism cardiomyopathy10.1GDNF, RET
24central hypoventilation syndrome, congenital10.0GDNF, RET
25gars-associated axonal neuropathy10.0FH, VHL
26multiple endocrine neoplasia iib10.0GDNF, RET
27perineocele10.0GDNF, RET
28nonsyndromic congenital nail disorder 29.9GDNF, RET
29pulmonary coin lesion9.9GDNF, RET
30renal tubular transport disease9.9TMEM127, VHL
31shprintzen-goldberg syndrome9.9GDNF, RET
32paraganglioma and gastric stromal sarcoma9.9SDHA, SDHB, SDHC, SDHD
33mercaptolactate-cysteine disulfiduria9.9SDHA, SDHB, SDHC, SDHD
34hirschsprung disease 19.9GDNF, RET
35endocrine gland cancer9.9SDHA, SDHB, SDHC, SDHD
36gastrointestinal stromal tumor9.9SDHA, SDHB, SDHC, SDHD
37hiatus hernia9.8GDNF, RET
38gnathomiasis9.8GDNF, RET
39cystadenoma9.7FH, SDHB, VHL
40torticollis, familial9.7FH, SDHB, SDHC, SDHD
41seminal vesicle cystadenoma9.6RET, SDHAF2, SDHB, SDHC, SDHD
42uterine corpus endometrial carcinoma9.6RET, SDHAF2, SDHB, SDHC, SDHD
43richter's syndrome9.6RET, SDHAF2, SDHB, SDHC, SDHD
44neuroendocrine carcinoma of the cervix9.6SDHA, SDHAF2, SDHB, SDHC, SDHD
45glycogen storage disease ib9.5SDHA, SDHAF2, SDHB, SDHC, SDHD
46nonsyndromic holoprosencephaly9.5GDNF, RET, VHL
47postgastrectomy syndrome9.5GDNF, RET
48renal cell carcinoma9.4FH, SDHB, SDHD, VHL
49von hippel-lindau syndrome9.3RET, SDHB, SDHC, SDHD, VHL
50steroid-induced glaucoma9.2SDHA, SDHAF2, SDHB, SDHC, 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

About this section

UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Genetic test Affiliating Genes
1 Hereditary Paraganglioma-Pheochromocytoma Syndromes25 23 SDHD

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

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

34
Adrenal gland, Kidney

Animal Models for Hereditary Paraganglioma-Pheochromocytoma Syndromes or affiliated genes

About this section

MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107685.9FH, GDNF, KIF1B, MAX, RET, SDHA

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

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

About this section

Clinvar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

5 (show all 30)
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 variantLikely pathogenic, Pathogenicrs74315367GRCh37Chr 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
6SDHBNM_003000.2(SDHB): c.136C> T (p.Arg46Ter)single nucleotide variantPathogenicrs74315370GRCh38Chr 1, 17044825: 17044825
7SDHBNM_003000.2(SDHB): c.72+1G> Tsingle nucleotide variantPathogenicrs587782703GRCh38Chr 1, 17053947: 17053947
8SDHBNM_003000.2(SDHB): c.137G> A (p.Arg46Gln)single nucleotide variantPathogenicrs772551056GRCh37Chr 1, 17371319: 17371319
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.640C> T (p.Gln214Ter)single nucleotide variantPathogenicrs876658461GRCh37Chr 1, 17350470: 17350470
13SDHBNM_003000.2(SDHB): c.-151-?_*159+?deldeletionPathogenic
14SDHBNM_003000.2(SDHB): c.126delT (p.Phe42Leufs)deletionPathogenicrs878854572GRCh38Chr 1, 17044835: 17044835
15SDHBNM_003000.2(SDHB): c.271A> T (p.Arg91Ter)single nucleotide variantPathogenicrs878854575GRCh37Chr 1, 17359570: 17359570
16SDHDNM_003002.3(SDHD): c.-84-?_*831+?deldeletionPathogenic
17SDHDNM_003002.3(SDHD): c.10dupC (p.Leu4Profs)duplicationPathogenicrs878854589GRCh37Chr 11, 111957641: 111957641
18SDHDNM_003002.3(SDHD): c.173delG (p.Gly58Alafs)deletionPathogenicrs878854590GRCh38Chr 11, 112088870: 112088870
19SDHDNM_003002.3(SDHD): c.242delC (p.Pro81Argfs)deletionPathogenicrs878854591GRCh38Chr 11, 112088939: 112088939
20TMEM127NM_017849.3(TMEM127): c.-131-?_*3600+?deldeletionPathogenic
21SDHBNM_003000.2(SDHB): c.423+1G> Asingle nucleotide variantPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094
22SDHBNM_003000.2(SDHB): c.287-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516833GRCh37Chr 1, 17355232: 17355232
23SDHDNM_003002.3(SDHD): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs80338843GRCh37Chr 11, 111958640: 111958640
24SDHDNM_003002.3(SDHD): c.242C> T (p.Pro81Leu)single nucleotide variantPathogenicrs80338844GRCh37Chr 11, 111959663: 111959663
25SDHDNM_003002.3(SDHD): c.274G> T (p.Asp92Tyr)single nucleotide variantPathogenicrs80338845GRCh37Chr 11, 111959695: 111959695
26SDHDNM_003002.3(SDHD): c.341A> G (p.Tyr114Cys)single nucleotide variantPathogenicrs104894304GRCh37Chr 11, 111965555: 111965555
27SDHDNM_003002.3(SDHD): c.64C> T (p.Arg22Ter)single nucleotide variantPathogenicrs104894306GRCh37Chr 11, 111958592: 111958592
28SDHDNM_003002.3(SDHD): c.3G> C (p.Met1Ile)single nucleotide variantPathogenicrs80338842GRCh37Chr 11, 111957634: 111957634
29SDHDNM_003002.3(SDHD): c.416T> C (p.Leu139Pro)single nucleotide variantPathogenicrs80338847GRCh37Chr 11, 111965630: 111965630
30SDHDNM_003002.3(SDHD): c.129G> A (p.Trp43Ter)single nucleotide variantPathogenicrs104894308GRCh37Chr 11, 111958657: 111958657

Expression for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

Pathways for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.5GDNF, RET
29.5GDNF, RET
3
Show member pathways
9.2SDHA, SDHB, SDHC, SDHD
4
Show member pathways
8.6FH, SDHA, SDHB, SDHC, SDHD
5
Show member pathways
8.6FH, SDHA, SDHB, SDHC, SDHD
6
Show member pathways
8.6FH, SDHA, SDHB, SDHC, SDHD
7
Show member pathways
8.6FH, SDHA, SDHB, SDHC, SDHD
88.3FH, MAX, RET, VHL

GO Terms for genes affiliated with Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section

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:00057499.8SDHA, SDHB, SDHC, SDHD
3mitochondrial inner membraneGO:00057439.1SDHA, SDHB, SDHC, SDHD
4mitochondrionGO:00057396.9FH, 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:000610510.3SDHA, SDHB
2respiratory electron transport chainGO:002290410.3SDHA, SDHB
3mitochondrial electron transport, succinate to ubiquinoneGO:000612110.2SDHAF2, SDHC
4aerobic respirationGO:000906010.0SDHB, SDHC
5enteric nervous system developmentGO:00484849.9GDNF, RET
6neural crest cell migrationGO:00017559.7GDNF, RET
7ureteric bud developmentGO:00016579.5GDNF, RET
8positive regulation of cell differentiationGO:00455979.2GDNF, VHL
9tricarboxylic acid cycleGO:00060998.3FH, 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
2succinate dehydrogenase activityGO:00001049.8SDHA, SDHC, SDHD
3ubiquinone bindingGO:00480399.6SDHB, SDHD
4electron carrier activityGO:00090559.5SDHB, SDHC, SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet