MCID: GCG001
MIFTS: 16

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 60
Mahvash Disease 60

Characteristics:

Orphanet epidemiological data:

60
gcgr-related hyperglucagonemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



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 abdominal pain

Wikipedia : 77 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 12.7
2 glucagonoma 11.1

Symptoms & Phenotypes for Gcgr-Related Hyperglucagonemia

Human phenotypes related to Gcgr-Related Hyperglucagonemia:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased glucagon level 60 33 obligate (100%) Obligate (100%) HP:0030688
2 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
3 cholelithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0001081
4 glucagonoma 60 33 frequent (33%) Frequent (79-30%) HP:0030404
5 neoplasm of the pancreas 60 33 frequent (33%) Frequent (79-30%) HP:0002894
6 abnormal biliary tract morphology 60 33 frequent (33%) Frequent (79-30%) HP:0012440
7 diabetes mellitus 60 Excluded (0%)
8 zollinger-ellison syndrome 60 Excluded (0%)
9 stomatitis 60 Excluded (0%)
10 necrolytic migratory erythema 60 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:

42
Pancreas

Publications for Gcgr-Related Hyperglucagonemia

Articles related to Gcgr-Related Hyperglucagonemia:

# Title Authors Year
1
Mahvash Disease: 10 Years After Discovery. ( 29702528 )
2018
2
Glucagon receptor is required for long-term survival: a natural history study of the Mahvash disease in a murine model. ( 22951296 )
2012

Variations for Gcgr-Related Hyperglucagonemia

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....