PGL5
MCID: PRG094
MIFTS: 29

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 57 72 29 13 6 70
Pgl5 57 72
Paragangliomas, Type 5 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable locations


HPO:

31
paragangliomas 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614165
OMIM Phenotypic Series 57 PS168000
MeSH 44 D010235
MedGen 41 C3279992
UMLS 70 C3279992

Summaries for Paragangliomas 5

UniProtKB/Swiss-Prot : 72 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. An important gene associated with Paragangliomas 5 is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A). Affiliated tissues include pituitary, and related phenotypes are paraganglioma and craniofacial

More information from OMIM: 614165 PS168000

Related Diseases for Paragangliomas 5

Diseases in the Paraganglioma family:

Paragangliomas 4 Paragangliomas 1
Paragangliomas 2 Paragangliomas 3
Paragangliomas 5 Paragangliomas 6
Paragangliomas 7 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 9.9

Symptoms & Phenotypes for Paragangliomas 5

Human phenotypes related to Paragangliomas 5:

31
# Description HPO Frequency HPO Source Accession
1 paraganglioma 31 HP:0002668

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
paraganglioma

Clinical features from OMIM®:

614165 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Paragangliomas 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 SDHA ZMYND11

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 29 SDHA

Anatomical Context for Paragangliomas 5

MalaCards organs/tissues related to Paragangliomas 5:

40
Pituitary

Publications for Paragangliomas 5

Articles related to Paragangliomas 5:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. 6 57
23750034 2013
2
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. 57 6
21752896 2011
3
SDHA is a tumor suppressor gene causing paraganglioma. 6 57
20484225 2010
4
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. 6
30877234 2019
5
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. 6
30050099 2019
6
Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report. 6
31413764 2019
7
Bayesian approach to determining penetrance of pathogenic SDH variants. 6
30201732 2018
8
Germline SDHA mutations in children and adults with cancer. 6
30068732 2018
9
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study. 6
29177515 2018
10
Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance. 6
28724664 2017
11
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. 6
28384794 2017
12
SDHA mutated paragangliomas may be at high risk of metastasis. 6
28500238 2017
13
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 6
28546994 2017
14
Expanded genetic screening panel for the Ashkenazi Jewish population. 6
26334176 2016
15
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. 6
26173966 2016
16
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 6
26556299 2016
17
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 6
26269449 2015
18
Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. 6
26259135 2015
19
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations. 6
25394176 2015
20
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 6
25720320 2015
21
Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 6
25494863 2015
22
Protein-mediated assembly of succinate dehydrogenase and its cofactors. 6
25488574 2015
23
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 6
24781757 2015
24
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 6
25405498 2015
25
A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. 6
26722403 2015
26
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. 6
24694336 2014
27
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. 6
23612575 2014
28
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 6
23666964 2013
29
SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. 6
23174939 2013
30
Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors. 6
22955521 2013
31
Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors. 6
23109135 2013
32
Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors. 6
23060355 2013
33
Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit. 6
23043141 2012
34
SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors. 6
22974104 2012
35
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma. 6
22517557 2012
36
SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. 6
21505157 2011
37
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity. 6
21858060 2011
38
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 6
20551992 2010
39
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 6
16798039 2006
40
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). 6
16361598 2006
41
Crystal structure of mitochondrial respiratory membrane protein complex II. 6
15989954 2005
42
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. 6
12794685 2003
43
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 6
10746566 2000
44
Analysis of potential redundancy among Arabidopsis 6-phosphogluconolactonase isoforms in peroxisomes. 61
31641750 2020
45
Treatment for Malignant Pheochromocytomas and Paragangliomas: 5 Years of Progress. 61
29081018 2017
46
Head and neck paragangliomas: Experience in 126 patients with 162 tumours. 61
25638014 2015
47
15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 61
26273102 2015
48
Garvicin A, a novel class IId bacteriocin from Lactococcus garvieae that inhibits septum formation in L. garvieae strains. 61
23666326 2013
49
Transfemoral transarterial onyx embolization of carotid body paragangliomas: technical considerations, results, and strategies for complication avoidance. 61
23147783 2013
50
Phase 2 study of everolimus monotherapy in patients with nonfunctioning neuroendocrine tumors or pheochromocytomas/paragangliomas. 61
22736481 2012

Variations for Paragangliomas 5

ClinVar genetic disease variations for Paragangliomas 5:

6 (show top 50) (show all 1141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHA NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) SNV Pathogenic 209127 rs781764920 GRCh37: 5:224547-224547
GRCh38: 5:224432-224432
2 SDHA NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) SNV Pathogenic 239658 rs752360961 GRCh37: 5:251543-251543
GRCh38: 5:251428-251428
3 SDHA NM_004168.4(SDHA):c.457-2_457del Deletion Pathogenic 239672 rs878854632 GRCh37: 5:225995-225997
GRCh38: 5:225880-225882
4 SDHA NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) SNV Pathogenic 239634 rs746165168 GRCh37: 5:233750-233750
GRCh38: 5:233635-233635
5 SDHA NM_004168.4(SDHA):c.762_770+17del Deletion Pathogenic 412346 rs1041809852 GRCh37: 5:228439-228464
GRCh38: 5:228324-228349
6 SDHA NM_004168.4(SDHA):c.1615dup (p.Ile539fs) Duplication Pathogenic 412366 rs1554001843 GRCh37: 5:251166-251167
GRCh38: 5:251051-251052
7 SDHA NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) SNV Pathogenic 412328 rs771328239 GRCh37: 5:233681-233681
GRCh38: 5:233566-233566
8 SDHA NM_004168.4(SDHA):c.667del (p.Asp223fs) Deletion Pathogenic 141876 rs587782077 GRCh37: 5:228344-228344
GRCh38: 5:228229-228229
9 SDHA NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) SNV Pathogenic 472288 rs1554000360 GRCh37: 5:240508-240508
GRCh38: 5:240393-240393
10 SDHA NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) Deletion Pathogenic 472290 rs1553997617 GRCh37: 5:225598-225598
GRCh38: 5:225483-225483
11 SDHA NM_004168.4(SDHA):c.688del (p.Glu230fs) Deletion Pathogenic 472291 rs1553998199 GRCh37: 5:228363-228363
GRCh38: 5:228248-228248
12 SDHA NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) SNV Pathogenic 472289 rs778207102 GRCh37: 5:240511-240511
GRCh38: 5:240396-240396
13 SDHA NM_004168.4(SDHA):c.1547dup (p.Lys517fs) Duplication Pathogenic 539642 rs1554000378 GRCh37: 5:240586-240587
GRCh38: 5:240471-240472
14 SDHA NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) SNV Pathogenic 539643 rs747249998 GRCh37: 5:251184-251184
GRCh38: 5:251069-251069
15 SDHA NM_004168.4(SDHA):c.2T>G (p.Met1Arg) SNV Pathogenic 422382 rs750380279 GRCh37: 5:218472-218472
GRCh38: 5:218357-218357
16 SDHA NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) SNV Pathogenic 539663 rs775143272 GRCh37: 5:228306-228306
GRCh38: 5:228191-228191
17 SDHA NM_004168.4(SDHA):c.722_726del (p.Asp241fs) Deletion Pathogenic 539664 rs1553998229 GRCh37: 5:228398-228402
GRCh38: 5:228283-228287
18 SDHA NM_004168.4(SDHA):c.1A>G (p.Met1Val) SNV Pathogenic 239661 rs1061517 GRCh37: 5:218471-218471
GRCh38: 5:218356-218356
19 SDHA NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) SNV Pathogenic 209127 rs781764920 GRCh37: 5:224547-224547
GRCh38: 5:224432-224432
20 SDHA NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) SNV Pathogenic 371805 rs748089700 GRCh37: 5:240574-240574
GRCh38: 5:240459-240459
21 SDHA NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) Deletion Pathogenic 569511 rs1560989804 GRCh37: 5:228321-228322
GRCh38: 5:228206-228207
22 SDHA NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) Duplication Pathogenic 574154 rs1560980939 GRCh37: 5:218510-218511
GRCh38: 5:218395-218396
23 SDHA NM_004168.4(SDHA):c.995_996del (p.Pro332fs) Deletion Pathogenic 575469 rs1560994766 GRCh37: 5:233691-233692
GRCh38: 5:233576-233577
24 SDHA NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) Duplication Pathogenic 576450 rs1560986132 GRCh37: 5:224576-224577
GRCh38: 5:224461-224462
25 SDHA NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) SNV Pathogenic 480771 rs775827529 GRCh37: 5:226094-226094
GRCh38: 5:225979-225979
26 SDHA NM_004168.4(SDHA):c.897_1260+1del Deletion Pathogenic 545722 GRCh37: 5:233588-235450
GRCh38: 5:233473-235335
27 SDHA NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) SNV Pathogenic 639589 rs1579407009 GRCh37: 5:235452-235452
GRCh38: 5:235337-235337
28 SDHA NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) Indel Pathogenic 418987 rs1064793567 GRCh37: 5:240566-240567
GRCh38: 5:240451-240452
29 SDHA NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) SNV Pathogenic 644096 rs780064103 GRCh37: 5:218475-218475
GRCh38: 5:218360-218360
30 SDHA NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) SNV Pathogenic 230290 rs876658486 GRCh37: 5:226156-226156
GRCh38: 5:226041-226041
31 SDHA NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) SNV Pathogenic 582775 rs1560992565 GRCh37: 5:231100-231100
GRCh38: 5:230985-230985
32 SDHA NM_004168.4(SDHA):c.775del (p.Tyr259fs) Deletion Pathogenic 486395 rs1553998606 GRCh37: 5:230995-230995
GRCh38: 5:230880-230880
33 SDHA NM_004168.4(SDHA):c.28del (p.Leu10fs) Deletion Pathogenic 654714 rs1579369841 GRCh37: 5:218498-218498
GRCh38: 5:218383-218383
34 SDHA NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs) Indel Pathogenic 657145 rs1579402188 GRCh37: 5:233638-233641
GRCh38: 5:233523-233526
35 SDHA NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) Indel Pathogenic 660785 rs1579386206 GRCh37: 5:226160-226161
GRCh38: 5:226045-226046
36 SDHA NM_004168.4(SDHA):c.2T>A (p.Met1Lys) SNV Pathogenic 582115 rs750380279 GRCh37: 5:218472-218472
GRCh38: 5:218357-218357
37 SDHA NM_004168.4(SDHA):c.1579del (p.Arg527fs) Deletion Pathogenic 653810 rs1579437839 GRCh37: 5:251133-251133
GRCh38: 5:251018-251018
38 SDHA NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) SNV Pathogenic 665061 rs1579385645 GRCh37: 5:226049-226049
GRCh38: 5:225934-225934
39 SDHA NM_004168.4(SDHA):c.688del (p.Glu230fs) Deletion Pathogenic 472291 rs1553998199 GRCh37: 5:228363-228363
GRCh38: 5:228248-228248
40 SDHA NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) SNV Pathogenic 230877 rs151170408 GRCh37: 5:235345-235345
GRCh38: 5:235230-235230
41 SDHA NM_004168.4(SDHA):c.64-2A>G SNV Pathogenic 835516 GRCh37: 5:223595-223595
GRCh38: 5:223480-223480
42 SDHA NM_004168.4(SDHA):c.181G>T (p.Glu61Ter) SNV Pathogenic 836392 GRCh37: 5:224505-224505
GRCh38: 5:224390-224390
43 SDHA NM_004168.4(SDHA):c.83dup (p.Gly29fs) Duplication Pathogenic 836479 GRCh37: 5:223615-223616
GRCh38: 5:223500-223501
44 SDHA NM_004168.4(SDHA):c.1656del (p.Phe552fs) Deletion Pathogenic 839974 GRCh37: 5:251211-251211
GRCh38: 5:251096-251096
45 SDHA NM_004168.4(SDHA):c.1del (p.Met1fs) Deletion Pathogenic 426781 rs1085307796 GRCh37: 5:218471-218471
GRCh38: 5:218356-218356
46 SDHA NM_004168.4(SDHA):c.1A>T (p.Met1Leu) SNV Pathogenic 371794 rs1061517 GRCh37: 5:218471-218471
GRCh38: 5:218356-218356
47 SDHA NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) SNV Pathogenic 856810 GRCh37: 5:225577-225577
GRCh38: 5:225462-225462
48 SDHA NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter) SNV Pathogenic 857526 GRCh37: 5:226009-226009
GRCh38: 5:225894-225894
49 SDHA NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) SNV Pathogenic 857818 GRCh37: 5:235317-235317
GRCh38: 5:235202-235202
50 SDHA NM_004168.4(SDHA):c.1397dup (p.Cys467fs) Duplication Pathogenic 855920 GRCh37: 5:236678-236679
GRCh38: 5:236563-236564

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

72
# Symbol AA change Variation ID SNP ID
1 SDHA p.Arg589Trp VAR_065975 rs387906780

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....