PGL5
MCID: PRG094
MIFTS: 21

Paragangliomas 5 (PGL5)

Categories: Cancer diseases, Ear diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Paragangliomas 5

MalaCards integrated aliases for Paragangliomas 5:

Name: Paragangliomas 5 58 76 30 13 6 74
Pgl5 58 76
Paragangliomas, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable locations


HPO:

33
paragangliomas 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614165
MeSH 45 D010235
MedGen 43 C3279992
UMLS 74 C3279992

Summaries for Paragangliomas 5

UniProtKB/Swiss-Prot : 76 Paragangliomas 5: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear.

MalaCards based summary : Paragangliomas 5, also known as pgl5, is related to paraganglioma and mitochondrial complex ii deficiency. An important gene associated with Paragangliomas 5 is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A). Related phenotype is paraganglioma.

Description from OMIM: 614165

Related Diseases for Paragangliomas 5

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Nonsyndromic Paraganglioma

Diseases related to Paragangliomas 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paraganglioma 9.8
2 mitochondrial complex ii deficiency 9.6 CCDC127 SDHA
3 leigh syndrome 9.4 CCDC127 SDHA

Symptoms & Phenotypes for Paragangliomas 5

Human phenotypes related to Paragangliomas 5:

33
# Description HPO Frequency HPO Source Accession
1 paraganglioma 33 HP:0002668

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
paraganglioma

Clinical features from OMIM:

614165

Drugs & Therapeutics for Paragangliomas 5

Search Clinical Trials , NIH Clinical Center for Paragangliomas 5

Genetic Tests for Paragangliomas 5

Genetic tests related to Paragangliomas 5:

# Genetic test Affiliating Genes
1 Paragangliomas 5 30 SDHA

Anatomical Context for Paragangliomas 5

Publications for Paragangliomas 5

Articles related to Paragangliomas 5:

# Title Authors Year
1
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. ( 24893135 )
2014
2
Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. ( 23750034 )
2013
3
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. ( 21752896 )
2011
4
SDHA is a tumor suppressor gene causing paraganglioma. ( 20484225 )
2010

Variations for Paragangliomas 5

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 5:

76
# Symbol AA change Variation ID SNP ID
1 SDHA p.Arg589Trp VAR_065975 rs387906780

ClinVar genetic disease variations for Paragangliomas 5:

6 (show top 50) (show all 1130)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDHA NM_004168.3(SDHA): c.1660C> T (p.Arg554Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs9809219 GRCh37 Chromosome 5, 251215: 251215
2 SDHA NM_004168.3(SDHA): c.1660C> T (p.Arg554Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs9809219 GRCh38 Chromosome 5, 251100: 251100
3 SDHA NM_004168.3(SDHA): c.1571C> T (p.Ala524Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137852767 GRCh37 Chromosome 5, 251126: 251126
4 SDHA NM_004168.3(SDHA): c.1571C> T (p.Ala524Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137852767 GRCh38 Chromosome 5, 251011: 251011
5 SDHA NM_004168.3(SDHA): c.1765C> T (p.Arg589Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs387906780 GRCh37 Chromosome 5, 251554: 251554
6 SDHA NM_004168.3(SDHA): c.1765C> T (p.Arg589Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs387906780 GRCh38 Chromosome 5, 251439: 251439
7 SDHA NM_004168.3(SDHA): c.1523C> T (p.Thr508Ile) single nucleotide variant Likely benign rs151266052 GRCh37 Chromosome 5, 240563: 240563
8 SDHA NM_004168.3(SDHA): c.1523C> T (p.Thr508Ile) single nucleotide variant Likely benign rs151266052 GRCh38 Chromosome 5, 240448: 240448
9 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Uncertain significance rs397514541 GRCh37 Chromosome 5, 240566: 240566
10 SDHA NM_004168.3(SDHA): c.1526C> T (p.Ser509Leu) single nucleotide variant Uncertain significance rs397514541 GRCh38 Chromosome 5, 240451: 240451
11 SDHA NM_004168.3(SDHA): c.1170C> T (p.Phe390=) single nucleotide variant Benign/Likely benign rs35277230 GRCh37 Chromosome 5, 235364: 235364
12 SDHA NM_004168.3(SDHA): c.1170C> T (p.Phe390=) single nucleotide variant Benign/Likely benign rs35277230 GRCh38 Chromosome 5, 235249: 235249
13 SDHA NM_004168.3(SDHA): c.1664-8G> A single nucleotide variant Benign/Likely benign rs199790689 GRCh37 Chromosome 5, 251445: 251445
14 SDHA NM_004168.3(SDHA): c.1664-8G> A single nucleotide variant Benign/Likely benign rs199790689 GRCh38 Chromosome 5, 251330: 251330
15 SDHA NM_004168.3(SDHA): c.969C> T (p.Gly323=) single nucleotide variant Benign/Likely benign rs142849100 GRCh37 Chromosome 5, 233665: 233665
16 SDHA NM_004168.3(SDHA): c.969C> T (p.Gly323=) single nucleotide variant Benign/Likely benign rs142849100 GRCh38 Chromosome 5, 233550: 233550
17 SDHA NM_004168.3(SDHA): c.818C> T (p.Thr273Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587781720 GRCh37 Chromosome 5, 231038: 231038
18 SDHA NM_004168.3(SDHA): c.818C> T (p.Thr273Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587781720 GRCh38 Chromosome 5, 230923: 230923
19 SDHA NM_004168.3(SDHA): c.146A> G (p.Asp49Gly) single nucleotide variant Benign/Likely benign rs80207011 GRCh37 Chromosome 5, 223679: 223679
20 SDHA NM_004168.3(SDHA): c.146A> G (p.Asp49Gly) single nucleotide variant Benign/Likely benign rs80207011 GRCh38 Chromosome 5, 223564: 223564
21 SDHA NM_004168.3(SDHA): c.1776T> C (p.His592=) single nucleotide variant Benign/Likely benign rs1126538 GRCh37 Chromosome 5, 251565: 251565
22 SDHA NM_004168.3(SDHA): c.1776T> C (p.His592=) single nucleotide variant Benign/Likely benign rs1126538 GRCh38 Chromosome 5, 251450: 251450
23 SDHA NM_004168.3(SDHA): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance rs587782076 GRCh37 Chromosome 5, 226053: 226053
24 SDHA NM_004168.3(SDHA): c.512G> A (p.Arg171His) single nucleotide variant Uncertain significance rs587782076 GRCh38 Chromosome 5, 225938: 225938
25 SDHA NM_004168.3(SDHA): c.667delG (p.Asp223Ilefs) deletion Pathogenic rs587782077 GRCh37 Chromosome 5, 228345: 228345
26 SDHA NM_004168.3(SDHA): c.667delG (p.Asp223Ilefs) deletion Pathogenic rs587782077 GRCh38 Chromosome 5, 228230: 228230
27 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh37 Chromosome 5, 223624: 223624
28 SDHA NM_004168.3(SDHA): c.91C> T (p.Arg31Ter) single nucleotide variant Pathogenic rs142441643 GRCh38 Chromosome 5, 223509: 223509
29 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200397144 GRCh38 Chromosome 5, 251427: 251427
30 SDHA NM_004168.3(SDHA): c.1753C> T (p.Arg585Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200397144 GRCh37 Chromosome 5, 251542: 251542
31 SDHA NM_004168.3(SDHA): c.1549A> G (p.Lys517Glu) single nucleotide variant Uncertain significance rs786205210 GRCh38 Chromosome 5, 240474: 240474
32 SDHA NM_004168.3(SDHA): c.1549A> G (p.Lys517Glu) single nucleotide variant Uncertain significance rs786205210 GRCh37 Chromosome 5, 240589: 240589
33 SDHA NM_004168.3(SDHA): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs781764920 GRCh37 Chromosome 5, 224547: 224547
34 SDHA NM_004168.3(SDHA): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs781764920 GRCh38 Chromosome 5, 224432: 224432
35 SDHA NM_004168.3(SDHA): c.1274T> G (p.Val425Gly) single nucleotide variant Uncertain significance rs200047573 GRCh38 Chromosome 5, 236441: 236441
36 SDHA NM_004168.3(SDHA): c.1274T> G (p.Val425Gly) single nucleotide variant Uncertain significance rs200047573 GRCh37 Chromosome 5, 236556: 236556
37 SDHA NM_004168.3(SDHA): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs371056571 GRCh37 Chromosome 5, 251146: 251146
38 SDHA NM_004168.3(SDHA): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs371056571 GRCh38 Chromosome 5, 251031: 251031
39 SDHA NM_004168.3(SDHA): c.994C> G (p.Pro332Ala) single nucleotide variant Uncertain significance rs373509391 GRCh37 Chromosome 5, 233690: 233690
40 SDHA NM_004168.3(SDHA): c.994C> G (p.Pro332Ala) single nucleotide variant Uncertain significance rs373509391 GRCh38 Chromosome 5, 233575: 233575
41 SDHA NM_004168.3(SDHA): c.550G> A (p.Gly184Arg) single nucleotide variant Benign/Likely benign rs148246073 GRCh38 Chromosome 5, 225976: 225976
42 SDHA NM_004168.3(SDHA): c.550G> A (p.Gly184Arg) single nucleotide variant Benign/Likely benign rs148246073 GRCh37 Chromosome 5, 226091: 226091
43 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh37 Chromosome 5, 228382: 228382
44 SDHA NM_004168.3(SDHA): c.704T> C (p.Ile235Thr) single nucleotide variant Uncertain significance rs144513891 GRCh38 Chromosome 5, 228267: 228267
45 SDHA NM_004168.3(SDHA): c.1951G> A (p.Glu651Lys) single nucleotide variant Uncertain significance rs375396913 GRCh38 Chromosome 5, 256376: 256376
46 SDHA NM_004168.3(SDHA): c.1951G> A (p.Glu651Lys) single nucleotide variant Uncertain significance rs375396913 GRCh37 Chromosome 5, 256491: 256491
47 SDHA NM_004168.3(SDHA): c.830C> T (p.Thr277Met) single nucleotide variant Uncertain significance rs367721665 GRCh37 Chromosome 5, 231050: 231050
48 SDHA NM_004168.3(SDHA): c.830C> T (p.Thr277Met) single nucleotide variant Uncertain significance rs367721665 GRCh38 Chromosome 5, 230935: 230935
49 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh38 Chromosome 5, 223551: 223551
50 SDHA NM_004168.3(SDHA): c.133G> A (p.Ala45Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140736646 GRCh37 Chromosome 5, 223666: 223666

Expression for Paragangliomas 5

Search GEO for disease gene expression data for Paragangliomas 5.

Pathways for Paragangliomas 5

GO Terms for Paragangliomas 5

Sources for Paragangliomas 5

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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