MCID: GCG001
MIFTS: 15

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 59
Mahvash Disease 59

Characteristics:

Orphanet epidemiological data:

59
gcgr-related hyperglucagonemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA438274
ICD10 via Orphanet 34 E16.3

Summaries for Gcgr-Related Hyperglucagonemia

MalaCards based summary : Gcgr-Related Hyperglucagonemia, also known as mahvash disease, is related to mahvash disease. 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

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 12.1

Symptoms & Phenotypes for Gcgr-Related Hyperglucagonemia

Human phenotypes related to Gcgr-Related Hyperglucagonemia:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased glucagon level 59 32 obligate (100%) Obligate (100%) HP:0030688
2 cholelithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0001081
3 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
4 neoplasm of the pancreas 59 32 frequent (33%) Frequent (79-30%) HP:0002894
5 abnormal biliary tract morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012440
6 glucagonoma 59 32 frequent (33%) Frequent (79-30%) HP:0030404
7 diabetes mellitus 59 Excluded (0%)
8 zollinger-ellison syndrome 59 Excluded (0%)
9 stomatitis 59 Excluded (0%)
10 necrolytic migratory erythema 59 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....