PGL6
MCID: PRG137
MIFTS: 22

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 56 73 6
Pgl6 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
paragangliomas 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 618464
OMIM Phenotypic Series 56 PS168000
MeSH 43 D010235

Summaries for Paragangliomas 6

OMIM : 56 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 and pheochromocytoma. An important gene associated with Paragangliomas 6 is SLC25A11 (Solute Carrier Family 25 Member 11). Affiliated tissues include tongue and adrenal gland, and related phenotypes are paraganglioma and hypertension

UniProtKB/Swiss-Prot : 73 Paragangliomas 6: An autosomal dominant tumor predisposition syndrome characterized by adult-onset development of paragangliomas, neural crest tumors usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Some of the tumors may secrete biologically active normetanephrine, resulting in secondary hypertension. PGL6 patients are at high risk for metastatic disease.

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
2 pheochromocytoma 9.8
3 adrenal gland pheochromocytoma 9.8

Symptoms & Phenotypes for Paragangliomas 6

Human phenotypes related to Paragangliomas 6:

31
# Description HPO Frequency HPO Source Accession
1 paraganglioma 31 very rare (1%) HP:0002668
2 hypertension 31 HP:0000822
3 elevated circulating catecholamine level 31 HP:0003334

Symptoms via clinical synopsis from OMIM:

56
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:

40
Tongue, Adrenal Gland

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. 56 6
29431636 2018
2
Embelin prevents LMP1-induced TRAIL resistance via inhibition of XIAP in nasopharyngeal carcinoma cells. 61
27313761 2016
3
Targeting miR-21 with AS-miR-21 suppresses aggressive growth of human tongue squamous cell carcinoma in vivo. 61
26191167 2015
4
[In vivo study on antisense-micro ribonucleic acid-21 oligonucleotide inhibiting tongue squamous cell carcinoma growth]. 61
23330361 2012

Variations for Paragangliomas 6

ClinVar genetic disease variations for Paragangliomas 6:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A11 NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr)SNV Pathogenic 635126 rs1567650859 17:4841471-4841471 17:4938176-4938176
2 SLC25A11 NM_003562.5(SLC25A11):c.439A>G (p.Met147Val)SNV Pathogenic 635127 rs1203876038 17:4842080-4842080 17:4938785-4938785
3 SLC25A11 NM_003562.5(SLC25A11):c.708C>T (p.Ala236=)SNV Pathogenic 635128 rs1567650874 17:4841478-4841478 17:4938183-4938183
4 SLC25A11 NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys)SNV Pathogenic 635129 rs1567651815 17:4842098-4842098 17:4938803-4938803
5 SLC25A11 NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs)deletion Pathogenic 635130 rs1374026152 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 COSM101967342 autonomic ganglia,abdomen,paraganglioma,benign c.181C>A p.Q61K 11:533875-533875 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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