MCID: HYP712
MIFTS: 17

Hypercalcemia, Infantile, 2

Categories: Genetic diseases

Aliases & Classifications for Hypercalcemia, Infantile, 2

MalaCards integrated aliases for Hypercalcemia, Infantile, 2:

Name: Hypercalcemia, Infantile, 2 53 71 28
Hcinf2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
all patients received vitamin d prophylaxis in infancy


HPO:

31
hypercalcemia, infantile, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypercalcemia, Infantile, 2

OMIM : 53 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 polyuria, muscular hypotonia and failure to thrive. An important gene associated with Hypercalcemia, Infantile, 2 is SLC34A1 (Solute Carrier Family 34 Member 1).

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

Diseases in the Hypercalcemia, Infantile, 1 family:

Hypercalcemia, Infantile, 2

Symptoms & Phenotypes for Hypercalcemia, Infantile, 2

Symptoms via clinical synopsis from OMIM:

53
Growth Other:
failure to thrive

Muscle Soft Tissue:
muscular hypotonia (in some patients)

Endocrine Features:
low parathyroid hormone (pth) levels

Genitourinary Kidneys:
polyuria
hypercalciuria
nephrocalcinosis
reduced tubular phosphate resorption

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


Clinical features from OMIM:

616963

Human phenotypes related to Hypercalcemia, Infantile, 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 polyuria 31 very rare (1%) HP:0000103
2 muscular hypotonia 31 very rare (1%) HP:0001252
3 failure to thrive 31 very rare (1%) HP:0001508
4 hypophosphatemia 31 HP:0002148
5 hypercalciuria 31 very rare (1%) HP:0002150
6 hypercalcemia 31 HP:0003072
7 renal phosphate wasting 31 HP:0000117
8 medullary nephrocalcinosis 31 HP:0012408

Drugs & Therapeutics for Hypercalcemia, Infantile, 2

Search Clinical Trials , NIH Clinical Center for Hypercalcemia, Infantile, 2

Genetic Tests for Hypercalcemia, Infantile, 2

Genetic tests related to Hypercalcemia, Infantile, 2:

# Genetic test Affiliating Genes
1 Hypercalcemia, Infantile, 2 28

Anatomical Context for Hypercalcemia, Infantile, 2

Publications for Hypercalcemia, Infantile, 2

Variations for Hypercalcemia, Infantile, 2

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

71
# Symbol AA change Variation ID SNP ID
1 SLC34A1 p.Gly153Ala VAR_077914 rs769409705
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
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A1 NM_003052.4(SLC34A1): c.644+1G> A single nucleotide variant Pathogenic rs201304511 GRCh38 Chromosome 5, 177387874: 177387874
2 SLC34A1 NM_003052.4(SLC34A1): c.458G> T (p.Gly153Val) single nucleotide variant Pathogenic rs769409705 GRCh37 Chromosome 5, 176813493: 176813493
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
7 SLC34A1 NM_003052.4(SLC34A1): c.604G> A (p.Val202Met) single nucleotide variant Likely pathogenic rs146919762 GRCh37 Chromosome 5, 176814834: 176814834
8 SLC34A1 NM_003052.4(SLC34A1): c.713A> C (p.Glu238Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 176815063: 176815063

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

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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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