PGL2
MCID: PRG019
MIFTS: 30

Paragangliomas 2 (PGL2)

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

Aliases & Classifications for Paragangliomas 2

MalaCards integrated aliases for Paragangliomas 2:

Name: Paragangliomas 2 57 20 72 29 13 6 70
Pgl2 57 20 72
Glomus Tumors, Familial, 2 57 20
Sdhaf2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 20
Familial Non-Chromaffin Paragangliomas 2 72
Glomus Tumors Familial 2 72
Paragangliomas, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
see also pgl1
usually asymptomatic
cells of origin are part of the diffuse neuroendocrine system (dnes)
adult onset (wide range of age)


HPO:

31
paragangliomas 2:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM® 57 601650
OMIM Phenotypic Series 57 PS168000
MeSH 44 D010235
MedGen 41 C1866552
UMLS 70 C1866552

Summaries for Paragangliomas 2

UniProtKB/Swiss-Prot : 72 Paragangliomas 2: 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 2, also known as pgl2, is related to hereditary paraganglioma-pheochromocytoma syndromes and paraganglioma, and has symptoms including aphonia An important gene associated with Paragangliomas 2 is SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2). Affiliated tissues include endothelial, prostate and brain, and related phenotypes are cranial nerve paralysis and vocal cord paralysis

More information from OMIM: 601650 PS168000

Related Diseases for Paragangliomas 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary paraganglioma-pheochromocytoma syndromes 11.2
2 paraganglioma 10.1
3 paragangliomas 4 9.9
4 paragangliomas 3 9.9
5 glomerulonephritis 9.9

Graphical network of the top 20 diseases related to Paragangliomas 2:



Diseases related to Paragangliomas 2

Symptoms & Phenotypes for Paragangliomas 2

Human phenotypes related to Paragangliomas 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cranial nerve paralysis 31 HP:0006824
2 vocal cord paralysis 31 HP:0001605
3 hoarse voice 31 HP:0001609
4 pulsatile tinnitus 31 HP:0008629
5 loss of voice 31 HP:0001686
6 glomus jugular tumor 31 HP:0003001
7 chemodectoma 31 HP:0030074
8 vagal paraganglioma 31 HP:0002886
9 glomus tympanicum paraganglioma 31 HP:0006715

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Voice:
loss of voice
hoarse voice (caused by tumor impingement)

Neurologic Central Nervous System:
cranial nerve palsies can arise with head and neck paragangliomas

Respiratory Larynx:
vocal cord paralysis (caused by tumor impingement)

Head And Neck Ears:
pulsatile tinnitus (tympanic paraganglioma)

Neoplasia:
paragangliomas
chemodectomas
glomus jugular tumors
vagal nerve tumors (glomus vagale)
tympanic nerve tumors (glomus tympanicum)
more

Clinical features from OMIM®:

601650 (Updated 05-Apr-2021)

UMLS symptoms related to Paragangliomas 2:


aphonia

Drugs & Therapeutics for Paragangliomas 2

Search Clinical Trials , NIH Clinical Center for Paragangliomas 2

Genetic Tests for Paragangliomas 2

Genetic tests related to Paragangliomas 2:

# Genetic test Affiliating Genes
1 Paragangliomas 2 29 SDHAF2

Anatomical Context for Paragangliomas 2

MalaCards organs/tissues related to Paragangliomas 2:

40
Endothelial, Prostate, Brain, Colon, Lung, Thyroid, Bone

Publications for Paragangliomas 2

Articles related to Paragangliomas 2:

(show top 50) (show all 174)
# Title Authors PMID Year
1
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 6 57
21348866 2012
2
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. 6 57
19628817 2009
3
Genetic aspects of nonchromaffin paraganglioma. 6 57
6286462 1982
4
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. 57
7814027 1995
5
Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. 57
8388849 1993
6
Familial non-chromaffinic paragangliomas (glomus tumors) : clinical aspects. 57
6264239 1981
7
Familiar non-chromaffinic paragangliomas (glomus tumors). Clinical and genetic aspects (abridged). 57
6267872 1981
8
Measure Theoretic Entropy of Discrete Geodesic Flow on Nagao Lattice Quotient. 61
33396224 2020
9
Influence of the reporter vector backbone on 2-deoxyglucose dependent promoter activation. 61
32886468 2020
10
Orientation-dependent toxic effect of human papillomavirus type 33 long control region DNA in Escherichia coli cells. 61
32246353 2020
11
Targeted Radionuclide Therapy: A Historical and Personal Review. 61
31843064 2020
12
[Association of MMP3 promoter 5A/6A polymorphism with stability of extracellular matrix of atherosclerotic plaque]. 61
31055827 2019
13
Biodegradable Anisotropic Microparticles for Stepwise Cell Adhesion and Preparation of Janus Cell Microparticles. 61
30284813 2018
14
Tumor suppressor protein p53-mediated repression of human mitotic centromere-associated kinesin gene expression is exerted via down-regulation of Sp1 level. 61
29244835 2017
15
Surgical management of parapharyngeal space tumors: The role of cervical and lateral skull base approaches. 61
27929599 2016
16
A novel approach for Escherichia coli genome editing combining in vivo cloning and targeted long-length chromosomal insertion. 61
27567891 2016
17
[Effect of transcription activity regulated by VNTR-ZNF and -14C/T variants in the promoter region of ATP-binding cassette transporter 1 in HepG2 cells]. 61
27577210 2016
18
Management of Carotid Bifurcation Tumors: 30-Year Experience. 61
27179981 2016
19
Quantitative Proteomic Analysis of the Response to Zinc, Magnesium, and Calcium Deficiency in Specific Cell Types of Arabidopsis Roots. 61
28248212 2016
20
15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 61
26273102 2015
21
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. 61
25563310 2015
22
Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA. 61
24414418 2014
23
A photo-degradable gene delivery system for enhanced nuclear gene transcription. 61
24172855 2014
24
A distal estrogen responsive element upstream the cap site of human transthyretin gene is an enhancer-like element upon ERα and/or ERβ transactivation. 61
23860318 2013
25
Flaviflexus huanghaiensis gen. nov., sp. nov., an actinobacterium of the family Actinomycetaceae. 61
23002046 2013
26
Gene-silencing properties of siRNAs that contain internal amide-bond linkages. 61
23062704 2012
27
[Identification of two small molecule inhibitors of hypoxia-inducible factor 1 with different cell-based screening model]. 61
23126204 2012
28
Histamine regulates mucin expression through H1 receptor in airway epithelial cells. 61
22582780 2012
29
An atypical bHLH protein encoded by POSITIVE REGULATOR OF GRAIN LENGTH 2 is involved in controlling grain length and weight of rice through interaction with a typical bHLH protein APG. 61
23136524 2012
30
Peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE in individuals with neck or mediastinal paraganglioma (PGL). 61
22566197 2012
31
[Effects of puerarin on the vascular active factor related to cerebral vasospasm after aneurysm subarachnoid hemorrhage]. 61
22574584 2012
32
Usefulness of ultrafast dynamic 3D-T1w data acquisition in detection of hypervascular lesions of the middle ear: first experience. 61
21123017 2012
33
Characterization of plasmids in a human clinical strain of Lactococcus garvieae. 61
22768237 2012
34
Benzamide analogue-conjugated polyethylenimine for brain-targeting and gene delivery. 61
21999822 2011
35
Functional consequences of succinate dehydrogenase mutations. 61
21742608 2011
36
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma. 61
21224366 2011
37
Hereditary paragangliomas. 61
21358191 2011
38
Eyes with basic dorsal and specific ventral regions in the glacial Apollo, Parnassius glacialis (Papilionidae). 61
21075944 2010
39
Design and characterization of an aequorin-based bacterial biosensor for detection of toluene and related compounds. 61
20663082 2010
40
[Effect of Cobaltous chloride on the transcription activity of modified human eNOS promoter]. 61
20619101 2010
41
The feasibility of using magnetic nanoparticles modified as gene vector. 61
21291111 2010
42
Inactivation of genes encoding plastoglobuli-like proteins in Synechocystis sp. PCC 6803 leads to a light-sensitive phenotype. 61
20081034 2010
43
Characterization of Arabidopsis 6-phosphogluconolactonase T-DNA insertion mutants reveals an essential role for the oxidative section of the plastidic pentose phosphate pathway in plant growth and development. 61
19457984 2009
44
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. 61
19190077 2009
45
Lupeol inhibits proliferation of human prostate cancer cells by targeting beta-catenin signaling. 61
19233958 2009
46
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis. 61
19432956 2009
47
Cooperative exonization of MaLR and AluJo elements contributed an alternative promoter and novel splice variants of RNF19. 61
18721867 2008
48
Characterization of the 5'-flanking region and regulation of expression of human anion exchanger SLC26A6. 61
18655181 2008
49
Proto-oncogene FBI-1 (Pokemon) and SREBP-1 synergistically activate transcription of fatty-acid synthase gene (FASN). 61
18682402 2008
50
TLR-independent induction of human monocyte IL-1 by phosphoglycolipids from thermophilic bacteria. 61
18161025 2008

Variations for Paragangliomas 2

ClinVar genetic disease variations for Paragangliomas 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHAF2 NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) SNV Pathogenic 401 rs113560320 GRCh37: 11:61205292-61205292
GRCh38: 11:61437820-61437820
2 SDHAF2 NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) Microsatellite Likely pathogenic 982784 GRCh37: 11:61205098-61205101
GRCh38: 11:61437626-61437629
3 SDHAF2 NM_017841.4(SDHAF2):c.352A>G (p.Ile118Val) SNV Uncertain significance 823888 rs747994812 GRCh37: 11:61205567-61205567
GRCh38: 11:61438095-61438095

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 2:

72
# Symbol AA change Variation ID SNP ID
1 SDHAF2 p.Gly78Arg VAR_058705 rs113560320

Expression for Paragangliomas 2

Search GEO for disease gene expression data for Paragangliomas 2.

Pathways for Paragangliomas 2

GO Terms for Paragangliomas 2

Sources for Paragangliomas 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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