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Congenital hyperinsulinemic hypoglycemia

Disease ID:1279
Name:Congenital hyperinsulinemic hypoglycemia
Associated with:1 target
Description
Multiorgan disease, birth complications, hyperaldosteronism, hypertension

Targets

Cav1.3
Role:  Multiorgan disease, birth complications, hyperaldosteronism, hypertension
Mutations:  Cav1.3 is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Congenital hyperinsulinemic hypoglycemia

References

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1. De Mingo Alemany MC, Mifsud Grau L, Moreno Macián F, Ferrer Lorente B, León Cariñena S. (2020) A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. Channels (Austin), 14 (1): 175-180. [PMID:32336187]

2. Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S. (2017) A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18 (4): 320-323. [PMID:28318089]

3. Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW et al.. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet, 45 (9): 1050-4. [PMID:23913001]