KEGG   DISEASE: Hypercalcemia infantile
Entry
H01371                      Disease                                
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01371  Hypercalcemia infantile
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H01371  Hypercalcemia infantile
Related
pathway
hsa00100  Steroid biosynthesis
hsa04928  Parathyroid hormone synthesis, secretion and action
Gene
(HCINF1) CYP24A1 [HSA:1591] [KO:K07436]
(HCINF2) SLC34A1 [HSA:6569] [KO:K14683]
Env factor
VitaminD [CPD:C05443]
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system