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HCA2
MCID: HYP733
MIFTS: 40

Hypercalciuria, Absorptive, 2 (HCA2)

Categories: Genetic diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hypercalciuria, Absorptive, 2

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MalaCards integrated aliases for Hypercalciuria, Absorptive, 2:

Name: Hypercalciuria, Absorptive, 2 57
Hypercalciuria, Absorptive, Susceptibility to 57 13 6
Hypercalciuria, Absorptive 57 13 55
Hypercalciuria 44 73
Hca2 57 75
Hypercalciuria, Familial Idiopathic 57
Hypercalciuria Familial Idiopathic 75
Familial Idiopathic Hypercalciuria 29
Hypercalciuria, Absorptive, Type 2 40
Hypercalciuria Absorptive 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

32
hypercalciuria, absorptive, 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 143870
MedGen 42 C0342639
MeSH 44 D053565
SNOMED-CT via HPO 69 263681008 71938000 444717006
UMLS 73 C0020438
Sources

Summaries for Hypercalciuria, Absorptive, 2

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UniProtKB/Swiss-Prot : 75 Hypercalciuria absorptive 2: A common type of hypercalciuria, a condition characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis.

MalaCards based summary : Hypercalciuria, Absorptive, 2, also known as hypercalciuria, absorptive, susceptibility to, is related to hypophosphatemic rickets with hypercalciuria, hereditary and dent disease 1, and has symptoms including polyuria, lower urinary tract symptoms and urological manifestations. An important gene associated with Hypercalciuria, Absorptive, 2 is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways is Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone, skin and kidney, and related phenotypes are hypercalciuria and calcium oxalate nephrolithiasis

Description from OMIM: 143870
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Related Diseases for Hypercalciuria, Absorptive, 2

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Diseases in the Hypercalciuria, Absorptive, 2 family:

Hypercalciuria, Absorptive, 1

Diseases related to Hypercalciuria, Absorptive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets with hypercalciuria, hereditary 33.4 SLC34A3 CLDN16 ADCY10
2 dent disease 1 33.0 CLDN16 CLCN5
3 bartter syndrome, type 2, antenatal 32.9 KCNJ1 CASR
4 bartter disease 32.1 KCNJ1 CLCN5 CASR
5 hypophosphatemic rickets, x-linked recessive 32.0 VDR SLC34A3 CLCN5
6 hypocalcemia, autosomal dominant 1 31.9 VDR CLDN16 CASR
7 nephrolithiasis, calcium oxalate 31.8 VDR CLCN5 CASR
8 hyperparathyroidism 30.7 VDR CASR
9 rickets 30.5 VDR SLC34A3 CLCN5
10 nephrocalcinosis 30.1 SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
11 bone disease 30.1 VDR SLC34A3 CASR
12 primary hyperparathyroidism 30.0 VDR CASR
13 secondary hyperparathyroidism of renal origin 30.0 VDR CASR
14 osteomalacia 30.0 VDR CASR
15 osteoporosis 30.0 VDR CASR ADCY10
16 hypophosphatemia 29.8 SLC34A3 CLCN5
17 parathyroid adenoma 29.7 VDR CASR
18 uremia 29.6 VDR CASR
19 idiopathic hypercalciuria 29.5 VDR SLC34A3 CLCN5 CASR ADCY10
20 nephrolithiasis 28.5 VDR SLC34A3 KCNJ1 CLDN16 CLCN5 CASR
21 hypercalciuria, absorptive, 1 12.5
22 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.4
23 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.3
24 hypomagnesemia 5, renal, with or without ocular involvement 12.1
25 hypomagnesemia 3, renal 12.1
26 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 12.0
27 bartter syndrome, type 1, antenatal 11.8
28 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.6
29 renal tubular acidosis, distal 11.3
30 nephrolithiasis, x-linked recessive, with renal failure 11.2
31 bartter syndrome, type 3 11.2
32 hypocalciuric hypercalcemia, familial, type i 11.1
33 bartter syndrome, type 5, antenatal, transient 11.1
34 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.1
35 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 11.1
36 metaphyseal chondrodysplasia, jansen type 10.9
37 renal tubular acidosis, distal, autosomal dominant 10.9
38 dent disease 2 10.9
39 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.9
40 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.9
41 hypocalcemia, autosomal dominant 2 10.9
42 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 10.9
43 bartter syndrome type 4 10.9
44 slc4a1-associated distal renal tubular acidosis 10.9
45 idiopathic infantile hypercalcemia 10.9
46 hereditary hypophosphatemic rickets 10.4
47 renal tubular acidosis 10.2
48 acute cystitis 10.2
49 down syndrome 10.2
50 wilson disease 10.2

Graphical network of the top 20 diseases related to Hypercalciuria, Absorptive, 2:



Diseases related to Hypercalciuria, Absorptive, 2
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Symptoms & Phenotypes for Hypercalciuria, Absorptive, 2

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Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypercalciuria
increased erythrocyte-membrane calcium-magnesium-atpase
increased sodium-potassium pump activity

Genitourinary Kidneys:
calcium oxalate nephrolithiasis


Clinical features from OMIM:

143870

Human phenotypes related to Hypercalciuria, Absorptive, 2:

32
# Description HPO Frequency HPO Source Accession
1 hypercalciuria 32 HP:0002150
2 calcium oxalate nephrolithiasis 32 HP:0008672

UMLS symptoms related to Hypercalciuria, Absorptive, 2:


polyuria, lower urinary tract symptoms, urological manifestations

GenomeRNAi Phenotypes related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 ADCY10 CLCN5 SLC34A3

MGI Mouse Phenotypes related to Hypercalciuria, Absorptive, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 ADCY10 CASR CLCN5 CLDN16 KCNJ1 SLC34A3
2 renal/urinary system MP:0005367 9.1 CASR CLCN5 CLDN16 KCNJ1 SLC34A3 VDR
Sources

Drugs & Therapeutics for Hypercalciuria, Absorptive, 2

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Search Clinical Trials , NIH Clinical Center for Hypercalciuria, Absorptive, 2

Cochrane evidence based reviews: hypercalciuria

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Genetic Tests for Hypercalciuria, Absorptive, 2

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Genetic tests related to Hypercalciuria, Absorptive, 2:

# Genetic test Affiliating Genes
1 Familial Idiopathic Hypercalciuria 29 ADCY10
Sources

Anatomical Context for Hypercalciuria, Absorptive, 2

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MalaCards organs/tissues related to Hypercalciuria, Absorptive, 2:

41
Bone, Skin, Kidney
Sources

Publications for Hypercalciuria, Absorptive, 2

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Articles related to Hypercalciuria, Absorptive, 2:

# Title Authors Year
1
Risk factors for nephrolithiasis in patients with familial idiopathic hypercalciuria. ( 12133747 )
2002
2
No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. ( 11733622 )
2001
3
Familial idiopathic hypercalciuria. ( 2762347 )
1989
4
Familial idiopathic hypercalciuria. ( 3242188 )
1988
5
Familial idiopathic hypercalciuria. ( 449913 )
1979
6
Familial idiopathic hypercalciuria. ( 759893 )
1979
Sources

Variations for Hypercalciuria, Absorptive, 2

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ClinVar genetic disease variations for Hypercalciuria, Absorptive, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADCY10 ADCY10, 923C-T single nucleotide variant risk factor
2 ADCY10 ADCY10, 1438+30T-C single nucleotide variant risk factor
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Expression for Hypercalciuria, Absorptive, 2

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Search GEO for disease gene expression data for Hypercalciuria, Absorptive, 2.
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Pathways for Hypercalciuria, Absorptive, 2

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Pathways related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 37
10.82 CASR SLC34A3 VDR
Sources

GO Terms for Hypercalciuria, Absorptive, 2

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Cellular components related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 ADCY10 CLCN5

Biological processes related to Hypercalciuria, Absorptive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.26 CASR VDR
2 ion transport GO:0006811 9.26 CLCN5 CLDN16 KCNJ1 SLC34A3
3 chloride transmembrane transport GO:1902476 9.16 CASR CLCN5
4 excretion GO:0007588 8.8 CLCN5 CLDN16 KCNJ1
Sources

Sources for Hypercalciuria, Absorptive, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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