MCID: GCG001
MIFTS: 21

Gcgr-Related Hyperglucagonemia

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Gcgr-Related Hyperglucagonemia

MalaCards integrated aliases for Gcgr-Related Hyperglucagonemia:

Name: Gcgr-Related Hyperglucagonemia 58 6
Mahvash Disease 58

Characteristics:

Orphanet epidemiological data:

58
gcgr-related hyperglucagonemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

ICD10 via Orphanet 33 E16.3
Orphanet 58 ORPHA438274

Summaries for Gcgr-Related Hyperglucagonemia

MalaCards based summary : Gcgr-Related Hyperglucagonemia, also known as mahvash disease, is related to mahvash disease and glucagonoma. An important gene associated with Gcgr-Related Hyperglucagonemia is GCGR (Glucagon Receptor). Affiliated tissues include pancreas, and related phenotypes are increased glucagon level and cholelithiasis

Wikipedia : 73 Mahvash disease is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome. The... more...

Related Diseases for Gcgr-Related Hyperglucagonemia

Diseases related to Gcgr-Related Hyperglucagonemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mahvash disease 11.8
2 glucagonoma 11.0
3 neuroendocrine tumor 10.0
4 islet cell tumor 10.0
5 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Gcgr-Related Hyperglucagonemia:



Diseases related to Gcgr-Related Hyperglucagonemia

Symptoms & Phenotypes for Gcgr-Related Hyperglucagonemia

Human phenotypes related to Gcgr-Related Hyperglucagonemia:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased glucagon level 58 31 obligate (100%) Obligate (100%) HP:0030688
2 cholelithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0001081
3 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
4 neoplasm of the pancreas 58 31 frequent (33%) Frequent (79-30%) HP:0002894
5 abnormal biliary tract morphology 58 31 frequent (33%) Frequent (79-30%) HP:0012440
6 glucagonoma 58 31 frequent (33%) Frequent (79-30%) HP:0030404
7 diabetes mellitus 58 Excluded (0%)
8 zollinger-ellison syndrome 58 Excluded (0%)
9 stomatitis 58 Excluded (0%)
10 necrolytic migratory erythema 58 Excluded (0%)

Drugs & Therapeutics for Gcgr-Related Hyperglucagonemia

Search Clinical Trials , NIH Clinical Center for Gcgr-Related Hyperglucagonemia

Genetic Tests for Gcgr-Related Hyperglucagonemia

Anatomical Context for Gcgr-Related Hyperglucagonemia

MalaCards organs/tissues related to Gcgr-Related Hyperglucagonemia:

40
Pancreas

Publications for Gcgr-Related Hyperglucagonemia

Articles related to Gcgr-Related Hyperglucagonemia:

(show all 13)
# Title Authors PMID Year
1
The V369M Gcgr knock-in mice are a precision medicine model of mild Mahvash disease. 6 61
32785645 2020
2
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine. 6 61
30294546 2018
3
Characterization of a naturally occurring mutation V368M in the human glucagon receptor and its association with metabolic disorders. 6
32677665 2020
4
Hypercalcemia in Glucagon Cell Hyperplasia and Neoplasia (Mahvash Syndrome): A New Association. 6
30032256 2018
5
Pancreatic α-cell hyperplasia and hyperglucagonemia due to a glucagon receptor splice mutation. 6
27933176 2016
6
Glucagon cell hyperplasia and neoplasia with and without glucagon receptor mutations. 6
25695890 2015
7
Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor. 6
19657311 2009
8
Next generation immunohistochemistry: Emerging substitutes to genetic testing? 61
28662997 2018
9
Mahvash Disease: 10 Years After Discovery. 61
29702528 2018
10
Pancreatic neuroendocrine tumors: biology, diagnosis,and treatment. 61
23237225 2013
11
Glucagon receptor is required for long-term survival: a natural history study of the Mahvash disease in a murine model. 61
22951296 2012
12
Rescue of a pathogenic mutant human glucagon receptor by pharmacological chaperones. 61
22693263 2012
13
A natural inactivating mutant of human glucagon receptor exhibits multiple abnormalities in processing and signaling. 61
21680267 2011

Variations for Gcgr-Related Hyperglucagonemia

ClinVar genetic disease variations for Gcgr-Related Hyperglucagonemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCGR NM_000160.5(GCGR):c.256C>T (p.Pro86Ser) SNV Pathogenic 1064733 GRCh37: 17:79768793-79768793
GRCh38: 17:81810917-81810917
2 GCGR GCGR, 1-BP INS, EX4 Insertion Pathogenic 1064734 GRCh37:
GRCh38:
3 GCGR GCGR, ARG8TER Variation Pathogenic 1064735 GRCh37:
GRCh38:
4 GCGR GCGR, GLN327TER Variation Pathogenic 1064736 GRCh37:
GRCh38:
5 GCGR NM_000160.5(GCGR):c.674G>A (p.Arg225His) SNV Pathogenic 1064737 GRCh37: 17:79769543-79769543
GRCh38: 17:81811667-81811667
6 GCGR GCGR, IVS8AS, G-A, -1 SNV Pathogenic 1064738 GRCh37:
GRCh38:
7 GCGR NM_000160.5(GCGR):c.187G>A (p.Asp63Asn) SNV Pathogenic 1064739 GRCh37: 17:79768724-79768724
GRCh38: 17:81810848-81810848
8 GCGR NM_000160.5(GCGR):c.955_957TTC[1] (p.Phe320del) Microsatellite Pathogenic 592589 rs1202703638 GRCh37: 17:79770458-79770460
GRCh38: 17:81812582-81812584

Expression for Gcgr-Related Hyperglucagonemia

Search GEO for disease gene expression data for Gcgr-Related Hyperglucagonemia.

Pathways for Gcgr-Related Hyperglucagonemia

GO Terms for Gcgr-Related Hyperglucagonemia

Sources for Gcgr-Related Hyperglucagonemia

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