MCID: PRG021
MIFTS: 28

Paragangliomas 4 malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Paragangliomas 4

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MalaCards based summary: Paragangliomas 4, also known as sdhb-related hereditary paraganglioma-pheochromocytoma syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and neuroblastoma, and has symptoms including neuroblastoma, gastrointestinal stroma tumor and autosomal dominant inheritance. An important gene associated with Paragangliomas 4 is SDHB (succinate dehydrogenase complex, subunit B, iron sulfur (Ip)).

Description from OMIM:47 115310

Aliases & Classifications for Paragangliomas 4

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Paragangliomas 4, Aliases & Descriptions:

Name: Paragangliomas 4 47 11 43 24 62
Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 43 22
Pheochromocytoma, Extraadrenal and Cervical Paraganglioma 43
Paragangliomas, Hereditary Extraadrenal 43
 
Pheochromocytoma, Familial Extraadrenal 43
Paraganglioma, Familial Malignant 43
Pgl4 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases


External Ids:

OMIM47 115310

Related Diseases for Paragangliomas 4

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Diseases in the Paraganglioma family:

paragangliomas 4 Paragangliomas 3
Paragangliomas 5 Paragangliomas 2
Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary paraganglioma-pheochromocytoma syndromes10.2
2neuroblastoma10.1
3paragangliomas 1, with or without deafness10.1

Symptoms for Paragangliomas 4

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Symptoms by clinical synopsis from OMIM:

115310

Clinical features from OMIM:

115310

HPO human phenotypes related to Paragangliomas 4:

(show all 19)
id Description Frequency HPO Source Accession
1 neuroblastoma rare (5%) HP:0003006
2 gastrointestinal stroma tumor rare (5%) HP:0100723
3 autosomal dominant inheritance HP:0000006
4 pulsatile tinnitus (tympanic paraganglioma) HP:0000361
5 anxiety (with pheochromocytoma) HP:0000740
6 diaphoresis (with pheochromocytoma) HP:0001011
7 tachycardia (with pheochromocytoma) HP:0001673
8 palpitations (with pheochromocytoma) HP:0001676
9 palpitations HP:0001962
10 headache (with pheochromocytoma) HP:0002331
11 paraganglioma-related cranial nerve palsy HP:0002377
12 hypertension associated with pheochromocytoma HP:0002640
13 glomus jugular tumor HP:0003001
14 adult onset HP:0003581
15 incomplete penetrance HP:0003829
16 renal cell carcinoma HP:0005584
17 extraadrenal pheochromocytoma HP:0006737
18 adrenal pheochromocytoma HP:0006748
19 abnormality of urine catecholamine concentration HP:0011281

Drugs & Therapeutics for Paragangliomas 4

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Drug clinical trials:

Search ClinicalTrials for Paragangliomas 4

Search NIH Clinical Center for Paragangliomas 4

Genetic Tests for Paragangliomas 4

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Genetic tests related to Paragangliomas 4:

id Genetic test Affiliating Genes
1 Sdhb-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome22 SDHB
2 Paragangliomas 424

Anatomical Context for Paragangliomas 4

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Animal Models for Paragangliomas 4 or affiliated genes

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Publications for Paragangliomas 4

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Variations for Paragangliomas 4

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UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 4:

64
id Symbol AA change Variation ID SNP ID
1SDHBp.Pro197ArgVAR_017868
2SDHBp.Arg242HisVAR_017869
3SDHBp.Pro131ArgVAR_018518
4SDHBp.His132ProVAR_037621
5SDHBp.Arg46GlnVAR_054377

Clinvar genetic disease variations for Paragangliomas 4:

7 (show all 11)
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
4SDHBSDHB, 4-BP DEL, 847NTdeletionPathogenic
5SDHBNM_003000.2(SDHB): c.79C> T (p.Arg27Ter)single nucleotide variantPathogenicrs74315369GRCh37Chr 1, 17371377: 17371377
6SDHBSDHB, 1.0-KB DEL, EX1deletionPathogenic
7SDHBNM_003000.2(SDHB): c.395A> C (p.His132Pro)single nucleotide variantPathogenicrs74315372GRCh37Chr 1, 17355123: 17355123
8SDHBNM_003000.2(SDHB): c.418G> T (p.Val140Phe)single nucleotide variantLikely pathogenic, Pathogenicrs267607032GRCh37Chr 1, 17355100: 17355100
9SDHBSDHB, 15.69-KB DEL, EX1deletionPathogenic
10SDHBSDHB, 20.3-KB DEL, EX1deletionPathogenic
11SDHBNM_003000.2(SDHB): c.423+1G> Asingle nucleotide variantPathogenicrs398122805GRCh37Chr 1, 17355094: 17355094

Expression for genes affiliated with Paragangliomas 4

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Search GEO for disease gene expression data for Paragangliomas 4.

Pathways for genes affiliated with Paragangliomas 4

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Compounds for genes affiliated with Paragangliomas 4

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GO Terms for genes affiliated with Paragangliomas 4

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Products for genes affiliated with Paragangliomas 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Paragangliomas 4

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet