MVAH
MCID: MHV001
MIFTS: 21

Mahvash Disease (MVAH)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mahvash Disease

MalaCards integrated aliases for Mahvash Disease:

Name: Mahvash Disease 57 20 6
Nesidioblastosis, Alpha Cell Hyperplasia, Microglucagonoma, and Nonfunctioning Islet Cell Tumor 20
Nesidioblastosis Alpha Cell Hyperplasia Microglucagonoma and Nonfunctioning Islet Cell Tumor 20
Alpha-Cell Hyperplasia with Glucagonemia 57
Mvah 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619290

Summaries for Mahvash Disease

OMIM® : 57 Mahvash disease (MVAH) is an autosomal recessive disorder caused by inactivating mutations in the glucagon receptor, leading to alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors (PNETs). (619290) (Updated 20-May-2021)

MalaCards based summary : Mahvash Disease, also known as nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor, is related to gcgr-related hyperglucagonemia and glucagonoma. An important gene associated with Mahvash Disease is GCGR (Glucagon Receptor). Affiliated tissues include pancreas.

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

Related Diseases for Mahvash Disease

Diseases related to Mahvash Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gcgr-related hyperglucagonemia 11.6
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 Mahvash Disease:



Diseases related to Mahvash Disease

Symptoms & Phenotypes for Mahvash Disease

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Pancreas:
abdominal pain
anorexia
diffusely enlarged pancreas
alpha-cell hyperplasia
nesidioblastosis (in some patients)
more
Growth:
poor weight gain (in 1 patient)

Laboratory Abnormalities:
hypoglycemia (in some patients)
elevated plasma glucagon
elevated pancreatic polypeptide
aminoacidemia
hypercalcemia (in 1 patient)
more

Clinical features from OMIM®:

619290 (Updated 20-May-2021)

Drugs & Therapeutics for Mahvash Disease

Search Clinical Trials , NIH Clinical Center for Mahvash Disease

Genetic Tests for Mahvash Disease

Anatomical Context for Mahvash Disease

MalaCards organs/tissues related to Mahvash Disease:

40
Pancreas

Publications for Mahvash Disease

Articles related to Mahvash Disease:

(show all 17)
# Title Authors PMID Year
1
The V369M Gcgr knock-in mice are a precision medicine model of mild Mahvash disease. 57 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. 57 6 61
30294546 2018
3
Characterization of a naturally occurring mutation V368M in the human glucagon receptor and its association with metabolic disorders. 6 57
32677665 2020
4
Hypercalcemia in Glucagon Cell Hyperplasia and Neoplasia (Mahvash Syndrome): A New Association. 57 6
30032256 2018
5
Pancreatic α-cell hyperplasia and hyperglucagonemia due to a glucagon receptor splice mutation. 57 6
27933176 2016
6
Glucagon cell hyperplasia and neoplasia with and without glucagon receptor mutations. 6 57
25695890 2015
7
Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor. 6 57
19657311 2009
8
Mahvash Disease: 10 Years After Discovery. 57 61
29702528 2018
9
Exocrine pancreas hyperplasia without dysplasia in glucagon receptor knockout mice. 57
24326371 2014
10
Pancreatic neuroendocrine tumors in glucagon receptor-deficient mice. 57
21853126 2011
11
Nesidioblastosis and hyperplasia of alpha cells, microglucagonoma, and nonfunctioning islet cell tumor of the pancreas: review of the literature. 57
18437091 2008
12
Next generation immunohistochemistry: Emerging substitutes to genetic testing? 61
28662997 2018
13
Pancreatic neuroendocrine tumors: biology, diagnosis,and treatment. 61
23237225 2013
14
Glucagon receptor is required for long-term survival: a natural history study of the Mahvash disease in a murine model. 61
22951296 2012
15
Rescue of a pathogenic mutant human glucagon receptor by pharmacological chaperones. 61
22693263 2012
16
A natural inactivating mutant of human glucagon receptor exhibits multiple abnormalities in processing and signaling. 61
21680267 2011
17
An innovative approach to reducing medical care utilization and expenditures. 61
10169245 1997

Variations for Mahvash Disease

ClinVar genetic disease variations for Mahvash Disease:

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 Mahvash Disease

Search GEO for disease gene expression data for Mahvash Disease.

Pathways for Mahvash Disease

GO Terms for Mahvash Disease

Sources for Mahvash Disease

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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