MCID: HYP712
MIFTS: 20

Hypercalcemia, Infantile, 2

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

Aliases & Classifications for Hypercalcemia, Infantile, 2

MalaCards integrated aliases for Hypercalcemia, Infantile, 2:

Name: Hypercalcemia, Infantile, 2 54 71
Hcinf2 71

Characteristics:

OMIM:

54
Miscellaneous:
all patients received vitamin d prophylaxis in infancy

Inheritance:
autosomal recessive


HPO:

32
hypercalcemia, infantile, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypercalcemia, Infantile, 2

OMIM : 54
Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880). (616963)

MalaCards based summary : Hypercalcemia, Infantile, 2, is also known as hcinf2, and has symptoms including failure to thrive, hypercalciuria and polyuria. An important gene associated with Hypercalcemia, Infantile, 2 is SLC34A1 (Solute Carrier Family 34 Member 1). The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 Hypercalcemia, infantile, 2: An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.

Related Diseases for Hypercalcemia, Infantile, 2

Symptoms & Phenotypes for Hypercalcemia, Infantile, 2

Symptoms via clinical synopsis from OMIM:

54

Endocrine Features:
low parathyroid hormone (pth) levels

Muscle Soft Tissue:
muscular hypotonia (in some patients)

Growth- Other:
failure to thrive

Metabolic Features:
elevated calcitriol (active 1,25-(oh)2d3) levels (in some patients)
hypophosphatemia
hypercalcemia

Genitourinary- Kidneys:
reduced tubular phosphate resorption
nephrocalcinosis
hypercalciuria
polyuria


Clinical features from OMIM:

616963

Human phenotypes related to Hypercalcemia, Infantile, 2:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 very rare (1%) HP:0001508
2 hypercalciuria 32 very rare (1%) HP:0002150
3 polyuria 32 very rare (1%) HP:0000103
4 hypercalcemia 32 HP:0003072
5 muscular hypotonia 32 very rare (1%) HP:0001252
6 hypophosphatemia 32 HP:0002148
7 renal phosphate wasting 32 HP:0000117
8 medullary nephrocalcinosis 32 HP:0012408

Drugs & Therapeutics for Hypercalcemia, Infantile, 2

Drugs for Hypercalcemia, Infantile, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Genetic Tests for Hypercalcemia, Infantile, 2

Anatomical Context for Hypercalcemia, Infantile, 2

MalaCards organs/tissues related to Hypercalcemia, Infantile, 2:

39
Bone

Publications for Hypercalcemia, Infantile, 2

Variations for Hypercalcemia, Infantile, 2

UniProtKB/Swiss-Prot genetic disease variations for Hypercalcemia, Infantile, 2:

71
id Symbol AA change Variation ID SNP ID
1 SLC34A1 p.Gly153Ala VAR_077914
2 SLC34A1 p.Gly153Val VAR_077915 rs769409705
3 SLC34A1 p.Leu155Pro VAR_077916 rs369770760
4 SLC34A1 p.Arg215Trp VAR_077917 rs577273266
5 SLC34A1 p.Cys336Gly VAR_077918 rs876661338
6 SLC34A1 p.Val408Glu VAR_077919 rs140649226
7 SLC34A1 p.Trp488Arg VAR_077920

ClinVar genetic disease variations for Hypercalcemia, Infantile, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A1 NM_003052.4(SLC34A1): c.644+1G> A single nucleotide variant Pathogenic rs201304511 GRCh37 Chromosome 5, 176814875: 176814875
2 SLC34A1 NM_003052.4(SLC34A1): c.458G> T (p.Gly153Val) single nucleotide variant Pathogenic rs769409705 GRCh38 Chromosome 5, 177386492: 177386492
3 SLC34A1 NM_003052.4(SLC34A1): c.1006+1G> A single nucleotide variant Pathogenic rs200095793 GRCh37 Chromosome 5, 176820765: 176820765
4 SLC34A1 NM_003052.4(SLC34A1): c.1006T> G (p.Cys336Gly) single nucleotide variant Pathogenic rs876661338 GRCh38 Chromosome 5, 177393763: 177393763
5 SLC34A1 NM_003052.4(SLC34A1): c.458G> C (p.Gly153Ala) single nucleotide variant Pathogenic rs769409705 GRCh38 Chromosome 5, 177386492: 177386492
6 SLC34A1 NM_003052.4(SLC34A1): c.272_292del21 (p.Val91_Ala97del) deletion Pathogenic rs876661296 GRCh37 Chromosome 5, 176813234: 176813254

Expression for Hypercalcemia, Infantile, 2

Search GEO for disease gene expression data for Hypercalcemia, Infantile, 2.

Pathways for Hypercalcemia, Infantile, 2

GO Terms for Hypercalcemia, Infantile, 2

Sources for Hypercalcemia, Infantile, 2

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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