MCID: HYP712
MIFTS: 18

Hypercalcemia, Infantile, 2

Categories: Genetic diseases

Aliases & Classifications for Hypercalcemia, Infantile, 2

MalaCards integrated aliases for Hypercalcemia, Infantile, 2:

Name: Hypercalcemia, Infantile, 2 57 75 29 6
Hcinf2 57 75
Hypercalcemia, Infantile, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
all patients received vitamin d prophylaxis in infancy


HPO:

32
hypercalcemia, infantile, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypercalcemia, Infantile, 2

OMIM : 57 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. An important gene associated with Hypercalcemia, Infantile, 2 is SLC34A1 (Solute Carrier Family 34 Member 1). Related phenotypes are polyuria and renal phosphate wasting

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 polyuria 32 very rare (1%) HP:0000103
2 renal phosphate wasting 32 HP:0000117
3 muscular hypotonia 32 very rare (1%) HP:0001252
4 failure to thrive 32 very rare (1%) HP:0001508
5 hypophosphatemia 32 HP:0002148
6 hypercalciuria 32 very rare (1%) HP:0002150
7 hypercalcemia 32 HP:0003072
8 medullary nephrocalcinosis 32 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 29

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:

75
# 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
(show all 18)
# 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.644+1G> A single nucleotide variant Pathogenic rs201304511 GRCh38 Chromosome 5, 177387874: 177387874
3 SLC34A1 NM_003052.4(SLC34A1): c.458G> T (p.Gly153Val) single nucleotide variant Pathogenic rs769409705 GRCh38 Chromosome 5, 177386492: 177386492
4 SLC34A1 NM_003052.4(SLC34A1): c.458G> T (p.Gly153Val) single nucleotide variant Pathogenic rs769409705 GRCh37 Chromosome 5, 176813493: 176813493
5 SLC34A1 NM_003052.4(SLC34A1): c.1006+1G> A single nucleotide variant Pathogenic rs200095793 GRCh37 Chromosome 5, 176820765: 176820765
6 SLC34A1 NM_003052.4(SLC34A1): c.1006+1G> A single nucleotide variant Pathogenic rs200095793 GRCh38 Chromosome 5, 177393764: 177393764
7 SLC34A1 NM_003052.4(SLC34A1): c.1006T> G (p.Cys336Gly) single nucleotide variant Pathogenic rs876661338 GRCh38 Chromosome 5, 177393763: 177393763
8 SLC34A1 NM_003052.4(SLC34A1): c.1006T> G (p.Cys336Gly) single nucleotide variant Pathogenic rs876661338 GRCh37 Chromosome 5, 176820764: 176820764
9 SLC34A1 NM_003052.4(SLC34A1): c.458G> C (p.Gly153Ala) single nucleotide variant Pathogenic rs769409705 GRCh38 Chromosome 5, 177386492: 177386492
10 SLC34A1 NM_003052.4(SLC34A1): c.458G> C (p.Gly153Ala) single nucleotide variant Pathogenic rs769409705 GRCh37 Chromosome 5, 176813493: 176813493
11 SLC34A1 NM_003052.4(SLC34A1): c.272_292del21 (p.Val91_Ala97del) deletion Pathogenic rs876661296 GRCh37 Chromosome 5, 176813234: 176813254
12 SLC34A1 NM_003052.4(SLC34A1): c.272_292del21 (p.Val91_Ala97del) deletion Pathogenic rs876661296 GRCh38 Chromosome 5, 177386233: 177386253
13 SLC34A1 NM_003052.4(SLC34A1): c.654G> A (p.Ala218=) single nucleotide variant Likely benign rs150592440 GRCh37 Chromosome 5, 176815004: 176815004
14 SLC34A1 NM_003052.4(SLC34A1): c.654G> A (p.Ala218=) single nucleotide variant Likely benign rs150592440 GRCh38 Chromosome 5, 177388003: 177388003
15 SLC34A1 NM_003052.4(SLC34A1): c.604G> A (p.Val202Met) single nucleotide variant Likely pathogenic rs146919762 GRCh37 Chromosome 5, 176814834: 176814834
16 SLC34A1 NM_003052.4(SLC34A1): c.604G> A (p.Val202Met) single nucleotide variant Likely pathogenic rs146919762 GRCh38 Chromosome 5, 177387833: 177387833
17 SLC34A1 NM_003052.4(SLC34A1): c.713A> C (p.Glu238Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 176815063: 176815063
18 SLC34A1 NM_003052.4(SLC34A1): c.713A> C (p.Glu238Ala) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 177388062: 177388062

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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