PGL6
MCID: PRG137
MIFTS: 18

Paragangliomas 6 (PGL6)

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

Aliases & Classifications for Paragangliomas 6

MalaCards integrated aliases for Paragangliomas 6:

Name: Paragangliomas 6 57 6
Pgl6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult-onset (range 32 to 87 years)
high risk for metastatic disease


Classifications:



External Ids:

Summaries for Paragangliomas 6

OMIM : 57 Paragangliomas-6 (PGL6) is an adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by Buffet et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 (168000). (618464)

MalaCards based summary : Paragangliomas 6, also known as pgl6, is related to paraganglioma. An important gene associated with Paragangliomas 6 is SLC25A11 (Solute Carrier Family 25 Member 11). Affiliated tissues include tongue.

Related Diseases for Paragangliomas 6

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

# Related Disease Score Top Affiliating Genes
1 paraganglioma 10.0

Symptoms & Phenotypes for Paragangliomas 6

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
increased catecholamines (in some patients)

Neoplasia:
paragangliomas

Clinical features from OMIM:

618464

Drugs & Therapeutics for Paragangliomas 6

Search Clinical Trials , NIH Clinical Center for Paragangliomas 6

Genetic Tests for Paragangliomas 6

Anatomical Context for Paragangliomas 6

MalaCards organs/tissues related to Paragangliomas 6:

41
Tongue

Publications for Paragangliomas 6

Articles related to Paragangliomas 6:

# Title Authors PMID Year
1
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas. 8 71
29431636 2018
2
Embelin prevents LMP1-induced TRAIL resistance via inhibition of XIAP in nasopharyngeal carcinoma cells. 38
27313761 2016
3
Targeting miR-21 with AS-miR-21 suppresses aggressive growth of human tongue squamous cell carcinoma in vivo. 38
26191167 2015
4
[In vivo study on antisense-micro ribonucleic acid-21 oligonucleotide inhibiting tongue squamous cell carcinoma growth]. 38
23330361 2012

Variations for Paragangliomas 6

ClinVar genetic disease variations for Paragangliomas 6:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A11 NM_003562.5(SLC25A11): c.715C> A (p.Pro239Thr) single nucleotide variant Pathogenic 17:4841471-4841471 17:4938176-4938176
2 SLC25A11 NM_003562.5(SLC25A11): c.439A> G (p.Met147Val) single nucleotide variant Pathogenic 17:4842080-4842080 17:4938785-4938785
3 SLC25A11 NM_003562.5(SLC25A11): c.708C> T (p.Ala236=) single nucleotide variant Pathogenic 17:4841478-4841478 17:4938183-4938183
4 SLC25A11 NM_003562.5(SLC25A11): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic 17:4842098-4842098 17:4938803-4938803
5 SLC25A11 NM_001165418.1(SLC25A11): c.96-226_96-225del deletion Pathogenic 17:4842495-4842496 17:4939200-4939201

Cosmic variations for Paragangliomas 6:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6188568 EPAS1 autonomic ganglia,abdomen,paraganglioma,benign c.1589C>T p.A530V 2:46380261-46380261 0

Expression for Paragangliomas 6

Search GEO for disease gene expression data for Paragangliomas 6.

Pathways for Paragangliomas 6

GO Terms for Paragangliomas 6

Sources for Paragangliomas 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....