MCID: HYP237
MIFTS: 15

Hypercalcemia, Infantile

Categories: Genetic diseases, Nephrological diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hypercalcemia, Infantile

MalaCards integrated aliases for Hypercalcemia, Infantile:

Name: Hypercalcemia, Infantile 24 13
Idiopathic Hypercalcemia of Infancy 24

Classifications:



Summaries for Hypercalcemia, Infantile

MalaCards based summary : Hypercalcemia, Infantile, also known as idiopathic hypercalcemia of infancy, is related to hypercalcemia, infantile, 1 and hypercalcemia, infantile, 2. An important gene associated with Hypercalcemia, Infantile is CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1). The drugs Vitamin D and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and renal/urinary system

Related Diseases for Hypercalcemia, Infantile

Graphical network of the top 20 diseases related to Hypercalcemia, Infantile:



Diseases related to Hypercalcemia, Infantile

Symptoms & Phenotypes for Hypercalcemia, Infantile

GenomeRNAi Phenotypes related to Hypercalcemia, Infantile according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.1 SLC34A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.1 CYP24A1 SLC34A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.1 CYP24A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.1 CYP24A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.1 CYP24A1

MGI Mouse Phenotypes related to Hypercalcemia, Infantile:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 CYP24A1 SLC34A1

Drugs & Therapeutics for Hypercalcemia, Infantile

Drugs for Hypercalcemia, Infantile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
2
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
3 Micronutrients
4 Trace Elements
5 Ergocalciferols
6 Vitamins
7 Bone Density Conservation Agents
8 Vitamin D2 Nutraceutical
9 Calciferol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria Not yet recruiting NCT03301038 Phase 2 Rifampin
2 Vitamin D Metabolism and the Williams Syndrome Completed NCT00013962 Vitamin D

Search NIH Clinical Center for Hypercalcemia, Infantile

Genetic Tests for Hypercalcemia, Infantile

Genetic tests related to Hypercalcemia, Infantile:

id Genetic test Affiliating Genes
1 Hypercalcemia, Infantile 24 CYP24A1

Anatomical Context for Hypercalcemia, Infantile

MalaCards organs/tissues related to Hypercalcemia, Infantile:

39
Bone

Publications for Hypercalcemia, Infantile

Variations for Hypercalcemia, Infantile

ClinVar genetic disease variations for Hypercalcemia, Infantile:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP24A1 NM_000782.4(CYP24A1): c.1426_1427delCT (p.Cys477Leufs) deletion Pathogenic rs876657376 GRCh37 Chromosome 20, 52773934: 52773935
2 CYP24A1 NM_000782.4(CYP24A1): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs387907322 GRCh37 Chromosome 20, 52788183: 52788183
3 CYP24A1 NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del) deletion Pathogenic rs777676129 GRCh37 Chromosome 20, 52789467: 52789469
4 CYP24A1 NM_000782.4(CYP24A1): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs387907323 GRCh37 Chromosome 20, 52788208: 52788208
5 CYP24A1 NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 GRCh37 Chromosome 20, 52774675: 52774675
6 CYP24A1 NM_000782.4(CYP24A1): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs6068812 GRCh37 Chromosome 20, 52774635: 52774635
7 CYP24A1 NM_000782.4(CYP24A1): c.964G> A (p.Glu322Lys) single nucleotide variant Pathogenic rs387907324 GRCh37 Chromosome 20, 52779282: 52779282

Expression for Hypercalcemia, Infantile

Search GEO for disease gene expression data for Hypercalcemia, Infantile.

Pathways for Hypercalcemia, Infantile

GO Terms for Hypercalcemia, Infantile

Sources for Hypercalcemia, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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