| H01371 | |
| H number | H01371 |
| Name | Hypercalcemia infantile; Idiopathic infantile hypercalcemia |
| Description | Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (HCINF1) CYP24A1 [HSA:1591] [KO:K07436] (HCINF2) SLC34A1 [HSA:6569] [KO:K14683] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C64.5 ICD-10: E83.5 MeSH: C562581 OMIM: 143880 616963 |
| Reference | PMID:21675912 (CYP24A1) AUTHORS Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J, Klaus G, Kuwertz-Broking E, Fehrenbach H, Wingen AM, Guran T, Hoenderop JG, Bindels RJ, Prosser DE, Jones G, Konrad M TITLE Mutations in CYP24A1 and idiopathic infantile hypercalcemia. JOURNAL N Engl J Med 365:410-21 (2011) DOI:10.1056/NEJMoa1103864 PMID:26047794 (SLC34A1) AUTHORS Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M TITLE Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. JOURNAL J Am Soc Nephrol 27:604-14 (2016) DOI:10.1681/ASN.2014101025 |