GCGR-related hyperglucagonemia
Synonyms: Mahvash disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare tumor of pancreas caused by mutations in the <i>GCGR</i> gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GCGR-related hyperglucagonemia | Mahvash disease |
| fr | Hyperglucagonémie associée à GCGR | Maladie de Mahvash |
| de | GCGR-abhängige Hyperglucagonämie | Mahvash-Krankheit |
| es | Hiperglucagonemia asociada a GCGR | Enfermedad de Mahwash |
| it | Iperglucagonemia correlata a GCGR | Malattia di Mahvash |
| nl | GCGR-gerelateerde hyperglucagonemie | Ziekte van Mahvash |
| pt | Hiperglucagonemia GCGR-relacionada | |
| pl | Hiperglukagonemia zależna od GCGR | Choroba Mahvasha |
| cs | GCGR-vázaná hyperglukagonémie | Mahvashina choroba |
| uk | Гіперглюкагонемія, повязана з GCGR | Хвороба Махваш |
| zh | GCGR相关高胰高血糖素血症 | 马赫瓦什综合征 |
| tr | GCGR-ilişkili hiperglukagonemi | Mahvash hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619290 | E | validated | |
| ICD-10 | E16.3 | NTBT | attributed | validated |
| ICD-11 | 5A42 | NTBT | attributed | validated |
| MONDO | 0018582 | E | validated | |
| UMLS | C4763635 | E | validated | |
| GARD | 10460 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:165711Rare abdominal surgical disease
rare abdominal surgical diseases - ORPHA:180824Rare tumor of pancreas
rare gastroenterological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GCGR | Disease-causing germline mutation(s) in | Assessed | HGNC:4192 | ENSG00000215644 | 138033 | 17q25.3 | glucagon receptor | 19657311[PMID]_25914784[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 25914784[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25914784[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2018-02-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030688 | Increased glucagon level | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0012440 | Abnormal biliary tract morphology | |
| HP:0001081 | Cholelithiasis | |
| HP:0030404 | Glucagonoma | |
| HP:0002894 | Neoplasm of the pancreas | |
| Excluded (0%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0031181 | Necrolytic migratory erythema | |
| HP:0010280 | Stomatitis | |
| HP:0002044 | Zollinger-Ellison syndrome | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25914784[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438274
- This record as JSON: /data/d/438274.json