PGL7
MCID: PRG138
MIFTS: 18

Paragangliomas 7 (PGL7)

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

Aliases & Classifications for Paragangliomas 7

MalaCards integrated aliases for Paragangliomas 7:

Name: Paragangliomas 7 57 73 6
Pgl7 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
adult-onset

Inheritance:
autosomal dominant


HPO:

31
paragangliomas 7:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 618475
OMIM Phenotypic Series 57 PS168000
MeSH 44 D010235

Summaries for Paragangliomas 7

OMIM® : 57 Paragangliomas-7 (PGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, know as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of familial paragangliomas, see PGL1 (168000). (618475) (Updated 05-Mar-2021)

MalaCards based summary : Paragangliomas 7, is also known as pgl7. An important gene associated with Paragangliomas 7 is DLST (Dihydrolipoamide S-Succinyltransferase). Related phenotypes are pheochromocytoma and paraganglioma

UniProtKB/Swiss-Prot : 73 Paragangliomas 7: 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. PGL7 tumors are generally benign, tend to be abdominal, and often secrete normetanephrine.

Related Diseases for Paragangliomas 7

Symptoms & Phenotypes for Paragangliomas 7

Human phenotypes related to Paragangliomas 7:

31
# Description HPO Frequency HPO Source Accession
1 pheochromocytoma 31 HP:0002666
2 paraganglioma 31 HP:0002668

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neoplasia:
pheochromocytoma
paragangliomas
tumors tend to be abdominal
tumors are benign

Laboratory Abnormalities:
tumors often secrete normetanephrine

Clinical features from OMIM®:

618475 (Updated 05-Mar-2021)

Drugs & Therapeutics for Paragangliomas 7

Search Clinical Trials , NIH Clinical Center for Paragangliomas 7

Genetic Tests for Paragangliomas 7

Anatomical Context for Paragangliomas 7

Publications for Paragangliomas 7

Articles related to Paragangliomas 7:

# Title Authors PMID Year
1
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. 6 57
30929736 2019
2
Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas. 61
33114456 2020
3
[Succinate dehydrogenase-deficient tumors--a novel mechanism of tumor formation]. 61
26749909 2015
4
Primary parapharyngeal tumours: a review of 21 cases. 61
24760123 2014
5
One hundred two patients with pheochromocytoma treated at a single institution since the introduction of laparoscopic adrenalectomy. 61
20855761 2010
6
Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 61
12782822 2003
7
Isolation, characterization, inheritance and linkage of microsatellite DNA markers in white spruce (Picea glauca) and their usefulness in other spruce species. 61
11254135 2001
8
Clinical significance of blood chromogranin A measurement in neuroendocrine tumours. 61
11762355 2001
9
[Functioning paraganglioma]. 61
8177442 1993
10
Familial multiple cervical paragangliomas: report of a kindred and review of the literature. 61
2113266 1990

Variations for Paragangliomas 7

ClinVar genetic disease variations for Paragangliomas 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLST NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) SNV Pathogenic 635133 rs1270341616 14:75367830-75367830 14:74901127-74901127

UniProtKB/Swiss-Prot genetic disease variations for Paragangliomas 7:

73
# Symbol AA change Variation ID SNP ID
1 DLST p.Gly374Glu VAR_083036 rs127034161

Expression for Paragangliomas 7

Search GEO for disease gene expression data for Paragangliomas 7.

Pathways for Paragangliomas 7

GO Terms for Paragangliomas 7

Sources for Paragangliomas 7

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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