HCINF2
MCID: HYP712
MIFTS: 21

Hypercalcemia, Infantile, 2 (HCINF2)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hypercalcemia, Infantile, 2

MalaCards integrated aliases for Hypercalcemia, Infantile, 2:

Name: Hypercalcemia, Infantile, 2 57 72 29 6
Hcinf2 57 72
Hypercalcemia, Infantile, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

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 failure to thrive and hypercalciuria

UniProtKB/Swiss-Prot : 72 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

Human phenotypes related to Hypercalcemia, Infantile, 2:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Genitourinary Kidneys:
nephrocalcinosis
hypercalciuria
polyuria
reduced tubular phosphate resorption

Endocrine Features:
low parathyroid hormone (pth) levels

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

Muscle Soft Tissue:
muscular hypotonia (in some patients)

Clinical features from OMIM®:

616963 (Updated 05-Apr-2021)

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 SLC34A1

Anatomical Context for Hypercalcemia, Infantile, 2

Publications for Hypercalcemia, Infantile, 2

Articles related to Hypercalcemia, Infantile, 2:

# Title Authors PMID Year
1
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. 6 57
26047794 2016
2
Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: a novel hypothesis? 6 57
20466674 2010

Variations for Hypercalcemia, Infantile, 2

ClinVar genetic disease variations for Hypercalcemia, Infantile, 2:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC34A1 NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val) SNV Pathogenic 234927 rs769409705 GRCh37: 5:176813493-176813493
GRCh38: 5:177386492-177386492
2 SLC34A1 NM_003052.5(SLC34A1):c.458G>C (p.Gly153Ala) SNV Pathogenic 234930 rs769409705 GRCh37: 5:176813493-176813493
GRCh38: 5:177386492-177386492
3 SLC34A1 NM_003052.5(SLC34A1):c.1006T>G (p.Cys336Gly) SNV Pathogenic 234929 rs876661338 GRCh37: 5:176820764-176820764
GRCh38: 5:177393763-177393763
4 SLC34A1 NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) SNV Pathogenic 352963 rs150592440 GRCh37: 5:176815004-176815004
GRCh38: 5:177388003-177388003
5 SLC34A1 NM_003052.5(SLC34A1):c.1006+1G>A SNV Pathogenic 234928 rs200095793 GRCh37: 5:176820765-176820765
GRCh38: 5:177393764-177393764
6 SLC34A1 NM_003052.5(SLC34A1):c.644+1G>A SNV Pathogenic 234926 rs201304511 GRCh37: 5:176814875-176814875
GRCh38: 5:177387874-177387874
7 SLC34A1 NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter) SNV Pathogenic 422006 rs200893951 GRCh37: 5:176812815-176812815
GRCh38: 5:177385814-177385814
8 SLC34A1 NM_003052.5(SLC34A1):c.532+2T>C SNV Likely pathogenic 1028069 GRCh37: 5:176813569-176813569
GRCh38: 5:177386568-177386568
9 SLC34A1 NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) SNV Likely pathogenic 438690 rs146919762 GRCh37: 5:176814834-176814834
GRCh38: 5:177387833-177387833
10 SLC34A1 NM_003052.5(SLC34A1):c.454_480dup (p.Val152_Val160dup) Duplication Likely pathogenic 975094 GRCh37: 5:176813481-176813482
GRCh38: 5:177386480-177386481
11 SLC34A1 NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) SNV Likely pathogenic 438694 rs1554095500 GRCh37: 5:176815063-176815063
GRCh38: 5:177388062-177388062
12 SLC34A1 NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) Deletion Conflicting interpretations of pathogenicity 234931 rs876661296 GRCh37: 5:176813233-176813253
GRCh38: 5:177386232-177386252
13 SLC34A1 NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr) SNV Uncertain significance 635429 rs144700897 GRCh37: 5:176825075-176825075
GRCh38: 5:177398074-177398074
14 SLC34A1 NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) SNV Uncertain significance 352961 rs548844573 GRCh37: 5:176813472-176813472
GRCh38: 5:177386471-177386471

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

72
# 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

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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