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 56 73 6
Pgl7 56 73

Characteristics:

OMIM:

56
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 56 618475
OMIM Phenotypic Series 56 PS168000
MeSH 43 D010235

Summaries for Paragangliomas 7

OMIM : 56 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)

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:

56
Neoplasia:
pheochromocytoma
paragangliomas
tumors tend to be abdominal
tumors are benign

Laboratory Abnormalities:
tumors often secrete normetanephrine

Clinical features from OMIM:

618475

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. 56 6
30929736 2019
2
[Succinate dehydrogenase-deficient tumors--a novel mechanism of tumor formation]. 61
26749909 2015
3
Primary parapharyngeal tumours: a review of 21 cases. 61
24760123 2014
4
One hundred two patients with pheochromocytoma treated at a single institution since the introduction of laparoscopic adrenalectomy. 61
20855761 2010
5
Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 61
12782822 2003
6
Isolation, characterization, inheritance and linkage of microsatellite DNA markers in white spruce (Picea glauca) and their usefulness in other spruce species. 61
11254135 2001
7
Clinical significance of blood chromogranin A measurement in neuroendocrine tumours. 61
11762355 2001
8
[Functioning paraganglioma]. 61
8177442 1993
9
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

Cosmic variations for Paragangliomas 7:

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 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
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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