Aliases & Classifications for Hypercalcemia, Infantile, 1

MalaCards integrated aliases for Hypercalcemia, Infantile, 1:

Name: Hypercalcemia, Infantile, 1 57 75
Idiopathic Hypercalcemia of Infancy 75 29 6
Hypercalcemia Infantile 75 37
Hypercalcemia 44 73
Hcinf1 57 75
Hypercalcemia, Idiopathic, of Infancy 57
Hypercalcemia, Infantile, Type 1 40
Hypercalcemia, Infantile 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
most patients develop symptoms while on prophylactic vitamin d supplementation in infancy
some patients may not present until adulthood


HPO:

32
hypercalcemia, infantile, 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypercalcemia, Infantile, 1

OMIM : 57 Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). (143880)

MalaCards based summary : Hypercalcemia, Infantile, 1, also known as idiopathic hypercalcemia of infancy, is related to hypocalciuric hypercalcemia, familial, type ii and familial hypocalciuric hypercalcemia. An important gene associated with Hypercalcemia, Infantile, 1 is CYP24A1 (Cytochrome P450 Family 24 Subfamily A Member 1), and among its related pathways/superpathways are Steroid biosynthesis and Peptide ligand-binding receptors. Affiliated tissues include eye, and related phenotypes are intellectual disability and failure to thrive

UniProtKB/Swiss-Prot : 75 Hypercalcemia, infantile, 1: A disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis.

Related Diseases for Hypercalcemia, Infantile, 1

Diseases in the Hypercalcemia, Infantile, 1 family:

Hypercalcemia, Infantile, 2

Diseases related to Hypercalcemia, Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type ii 34.1 CASR PTH
2 familial hypocalciuric hypercalcemia 34.1 CASR PTH
3 hypocalciuric hypercalcemia, familial, type iii 33.7 CASR PTH PTHLH
4 hypocalciuric hypercalcemia, familial, type i 12.5
5 idiopathic infantile hypercalcemia 12.4
6 hypercalcemia, infantile, 2 11.0
7 hypoadrenalism 10.4 CALCA PTHLH
8 extraskeletal chondroma 10.4 PTH PTHLH
9 sclerosing hepatic carcinoma 10.4 PTH PTHLH
10 invasive malignant thymoma 10.4 PTH PTHLH
11 clear cell adenoma 10.3 PTH PTHLH
12 autoimmune hypoparathyroidism 10.3 CASR PRKAR1A
13 hyperparathyroidism, neonatal severe 10.3 CASR PRKAR1A
14 oncogenic osteomalacia 10.3 PTH PTHLH
15 hypoparathyroidism, familial isolated 10.3 CASR PTH
16 jaw cancer 10.3 PTH PTHLH
17 fibrogenesis imperfecta ossium 10.3 CALCA PTH
18 islet cell tumor 10.3 CALCA PTHLH
19 clear cell chondrosarcoma 10.2 PTH1R PTHLH
20 tooth ankylosis 10.2 PTH1R PTHLH
21 juxtacortical chondroma 10.2 PTH1R PTHLH
22 hypophosphatasia, adult 10.2 CALCA PTH
23 pseudopseudohypoparathyroidism 10.2 PRKAR1A PTH
24 pyle disease 10.1 PTH1R PTHLH
25 chondroblastoma 10.1 PTH1R PTHLH
26 glucocorticoid-induced osteoporosis 10.1 CALCA PTH
27 chondrodysplasia, blomstrand type 10.1 PTH PTH1R
28 chondromyxoid fibroma 10.0 PTH1R PTHLH
29 enchondromatosis, multiple, ollier type 10.0 PTH1R PTHLH
30 multiple endocrine neoplasia, type iia 10.0 CALCA PTH
31 skeletal dysplasias 9.9 PTH1R PTHLH
32 thyroid gland disease 9.9 CALCA PTH
33 hypercalciuria, absorptive, 2 9.9 CASR VDR
34 hypophosphatemic rickets, x-linked recessive 9.9 CYP24A1 VDR
35 cloacogenic carcinoma 9.9 CALCA PTH PTHLH
36 osteitis fibrosa 9.8 CALCA CASR PTH
37 parathyroid carcinoma 9.8 CALCA CASR PTH
38 hypervitaminosis d 9.8 PTH VDR
39 xanthinuria, type i 9.8 CASR VDR
40 multiple endocrine neoplasia 9.8 CALCA PRKAR1A
41 hypophosphatemic rickets, x-linked dominant 9.7 PTH VDR
42 multiple endocrine neoplasia, type i 9.7 CASR PRKAR1A PTH
43 nephrolithiasis, calcium oxalate 9.7 CASR VDR
44 spondylosis 9.7 PTH VDR
45 pseudohypoparathyroidism, type ib 9.7 PTH PTH1R PTHLH
46 pseudohypoparathyroidism 9.7 PTH PTH1R PTHLH
47 osteochondrodysplasia 9.6 PTH1R PTHLH
48 paget's disease of bone 9.4 CALCA PTH
49 calciphylaxis 9.4 CASR PTH VDR
50 phosphorus metabolism disease 9.4 CASR PTH VDR

Graphical network of the top 20 diseases related to Hypercalcemia, Infantile, 1:



Diseases related to Hypercalcemia, Infantile, 1

Symptoms & Phenotypes for Hypercalcemia, Infantile, 1

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting

Genitourinary Kidneys:
nephrocalcinosis
polyuria
nephrolithiasis (in some patients)

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
dehydration
hypercalciuria
hypercalcemia

Growth Weight:
weight loss

Neurologic Central Nervous System:
lethargy

Metabolic Features:
suppression of intact parathyroid hormone levels


Clinical features from OMIM:

143880

Human phenotypes related to Hypercalcemia, Infantile, 1:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 failure to thrive 32 HP:0001508
3 dehydration 32 HP:0001944
4 vomiting 32 HP:0002013
5 abnormality of the eye 32 HP:0000478
6 weight loss 32 HP:0001824
7 thick lower lip vermilion 32 HP:0000179
8 hypercalciuria 32 HP:0002150
9 nephrocalcinosis 32 HP:0000121
10 nephrolithiasis 32 occasional (7.5%) HP:0000787
11 pulmonic stenosis 32 HP:0001642
12 elfin facies 32 HP:0004428
13 lethargy 32 HP:0001254
14 aortic valve stenosis 32 HP:0001650
15 generalized hypotonia 32 HP:0001290
16 infantile hypercalcemia 32 HP:0008250
17 polyuria 32 HP:0000103

MGI Mouse Phenotypes related to Hypercalcemia, Infantile, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.95 PTHLH PRKAR1A PTH VDR CASR PTH1R
2 endocrine/exocrine gland MP:0005379 9.91 PTH VDR CASR PTH1R PTHLH PRKAR1A
3 craniofacial MP:0005382 9.88 PTH VDR PTH1R PTHLH PRKAR1A
4 homeostasis/metabolism MP:0005376 9.87 PTHLH PRKAR1A PTH VDR CASR PTH1R
5 digestive/alimentary MP:0005381 9.85 PTHLH PRKAR1A VDR CASR PTH1R
6 hematopoietic system MP:0005397 9.85 PTHLH PRKAR1A PTH VDR CASR PTH1R
7 immune system MP:0005387 9.73 PTHLH PRKAR1A PTH VDR CASR PTH1R
8 mortality/aging MP:0010768 9.5 PTHLH PRKAR1A PTH VDR CASR PTH1R
9 limbs/digits/tail MP:0005371 9.46 PTHLH PTH VDR PTH1R
10 skeleton MP:0005390 9.17 PTH VDR CASR PTH1R CYP24A1 PTHLH

Drugs & Therapeutics for Hypercalcemia, Infantile, 1

Genetic Tests for Hypercalcemia, Infantile, 1

Genetic tests related to Hypercalcemia, Infantile, 1:

# Genetic test Affiliating Genes
1 Idiopathic Hypercalcemia of Infancy 29 CYP24A1

Anatomical Context for Hypercalcemia, Infantile, 1

MalaCards organs/tissues related to Hypercalcemia, Infantile, 1:

41
Eye

Publications for Hypercalcemia, Infantile, 1

Articles related to Hypercalcemia, Infantile, 1:

# Title Authors Year
1
50 years ago in the Journal of Pediatrics: metabolic studies in a patient with idiopathic hypercalcemia of infancy. ( 23527844 )
2013

Variations for Hypercalcemia, Infantile, 1

UniProtKB/Swiss-Prot genetic disease variations for Hypercalcemia, Infantile, 1:

75
# Symbol AA change Variation ID SNP ID
1 CYP24A1 p.Leu409Ser VAR_048466 rs6068812
2 CYP24A1 p.Arg159Gln VAR_066409 rs387907322
3 CYP24A1 p.Glu322Lys VAR_066410 rs387907324
4 CYP24A1 p.Arg396Trp VAR_066411 rs114368325

ClinVar genetic disease variations for Hypercalcemia, Infantile, 1:

6
(show all 20)
# 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.1426_1427delCT (p.Cys477Leufs) deletion Pathogenic rs876657376 GRCh38 Chromosome 20, 54157395: 54157396
3 CYP24A1 NM_000782.4(CYP24A1): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs387907322 GRCh37 Chromosome 20, 52788183: 52788183
4 CYP24A1 NM_000782.4(CYP24A1): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs387907322 GRCh38 Chromosome 20, 54171644: 54171644
5 CYP24A1 NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del) deletion Pathogenic rs777676129 GRCh37 Chromosome 20, 52789467: 52789469
6 CYP24A1 NM_000782.4(CYP24A1): c.428_430delAAG (p.Glu143del) deletion Pathogenic rs777676129 GRCh38 Chromosome 20, 54172928: 54172930
7 CYP24A1 NM_000782.4(CYP24A1): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs387907323 GRCh37 Chromosome 20, 52788208: 52788208
8 CYP24A1 NM_000782.4(CYP24A1): c.451G> T (p.Glu151Ter) single nucleotide variant Pathogenic rs387907323 GRCh38 Chromosome 20, 54171669: 54171669
9 CYP24A1 NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 GRCh37 Chromosome 20, 52774675: 52774675
10 CYP24A1 NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 GRCh38 Chromosome 20, 54158136: 54158136
11 CYP24A1 NM_000782.4(CYP24A1): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs6068812 GRCh37 Chromosome 20, 52774635: 52774635
12 CYP24A1 NM_000782.4(CYP24A1): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs6068812 GRCh38 Chromosome 20, 54158096: 54158096
13 CYP24A1 NM_000782.4(CYP24A1): c.964G> A (p.Glu322Lys) single nucleotide variant Pathogenic rs387907324 GRCh37 Chromosome 20, 52779282: 52779282
14 CYP24A1 NM_000782.4(CYP24A1): c.964G> A (p.Glu322Lys) single nucleotide variant Pathogenic rs387907324 GRCh38 Chromosome 20, 54162743: 54162743
15 CYP24A1 NM_000782.4(CYP24A1): c.1039C> T (p.Gln347Ter) single nucleotide variant Likely pathogenic rs777947329 GRCh38 Chromosome 20, 54159075: 54159075
16 CYP24A1 NM_000782.4(CYP24A1): c.1039C> T (p.Gln347Ter) single nucleotide variant Likely pathogenic rs777947329 GRCh37 Chromosome 20, 52775614: 52775614
17 CYP24A1 NM_000782.4(CYP24A1): c.552C> T (p.Ala184=) single nucleotide variant Benign rs2296241 GRCh37 Chromosome 20, 52786219: 52786219
18 CYP24A1 NM_000782.4(CYP24A1): c.552C> T (p.Ala184=) single nucleotide variant Benign rs2296241 GRCh38 Chromosome 20, 54169680: 54169680
19 CASR NM_000388.3(CASR): c.2449G> A (p.Val817Ile) single nucleotide variant Likely pathogenic rs1057518933 GRCh37 Chromosome 3, 122003250: 122003250
20 CASR NM_000388.3(CASR): c.2449G> A (p.Val817Ile) single nucleotide variant Likely pathogenic rs1057518933 GRCh38 Chromosome 3, 122284403: 122284403

Expression for Hypercalcemia, Infantile, 1

Search GEO for disease gene expression data for Hypercalcemia, Infantile, 1.

Pathways for Hypercalcemia, Infantile, 1

Pathways related to Hypercalcemia, Infantile, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

Pathways related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 CALCA CASR PTH PTH1R PTHLH
2
Show member pathways
12.07 CALCA PTH PTH1R PTHLH
3 11.79 CALCA PTH PTH1R PTHLH
4 11.71 CASR PRKAR1A VDR
5 11.39 PTH PTH1R PTHLH
6 11.21 CALCA CYP24A1 PTH PTH1R VDR
7 11.17 PTH1R VDR
8 11.13 CASR CYP24A1 PTH PTH1R PTHLH VDR
9 11.02 CYP24A1 VDR
10 10.94 PRKAR1A PTH PTH1R PTHLH VDR
11 10.6 PTH PTH1R
12 10.43 CYP24A1 PTH VDR

GO Terms for Hypercalcemia, Infantile, 1

Biological processes related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.89 CALCA CASR PTH PTH1R PTHLH
2 cell-cell signaling GO:0007267 9.75 CALCA PTH PTHLH
3 phospholipase C-activating G-protein coupled receptor signaling pathway GO:0007200 9.58 CASR PTH1R
4 bone mineralization GO:0030282 9.57 PTH1R PTHLH
5 bone resorption GO:0045453 9.56 PTH PTH1R
6 vasodilation GO:0042311 9.55 CALCA CASR
7 response to vitamin D GO:0033280 9.54 CYP24A1 PTH
8 osteoblast development GO:0002076 9.52 PTH1R PTHLH
9 negative regulation of chondrocyte differentiation GO:0032331 9.51 PTH PTHLH
10 positive regulation of ossification GO:0045778 9.48 CALCA PTH
11 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.46 PTH PTHLH
12 skeletal system development GO:0001501 9.46 PTH PTH1R PTHLH VDR
13 vitamin D metabolic process GO:0042359 9.43 CYP24A1 VDR
14 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.4 PTH PTH1R
15 response to fibroblast growth factor GO:0071774 9.37 CASR PTH
16 cAMP metabolic process GO:0046058 9.32 PTH PTHLH
17 vitamin D receptor signaling pathway GO:0070561 9.26 CYP24A1 VDR
18 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.26 CALCA PTH PTH1R PTHLH
19 cellular calcium ion homeostasis GO:0006874 9.02 CALCA CASR PTH PTH1R VDR

Molecular functions related to Hypercalcemia, Infantile, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 CALCA PTH PTHLH
2 peptide hormone receptor binding GO:0051428 8.62 PTH PTHLH

Sources for Hypercalcemia, Infantile, 1

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