HCA2
MCID: HYP733
MIFTS: 37

Hypercalciuria, Absorptive, 2 (HCA2)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Hypercalciuria, Absorptive, 2

MalaCards integrated aliases for Hypercalciuria, Absorptive, 2:

Name: Hypercalciuria, Absorptive, 2 58
Hypercalciuria, Absorptive, Susceptibility to 58 13 6
Hypercalciuria, Absorptive 58 56
Hypercalciuria 45 74
Hca2 58 76
Hypercalciuria, Familial Idiopathic 58
Hypercalciuria Familial Idiopathic 76
Familial Idiopathic Hypercalciuria 30
Hypercalciuria, Absorptive, Type 2 41
Hypercalciuria Absorptive 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

33
hypercalciuria, absorptive, 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 143870
MeSH 45 D053565
MedGen 43 C0342639
SNOMED-CT via HPO 70 263681008 444717006 71938000
UMLS 74 C0020438

Summaries for Hypercalciuria, Absorptive, 2

UniProtKB/Swiss-Prot : 76 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, kidney and skin, and related phenotypes are hypercalciuria and calcium oxalate nephrolithiasis

Description from OMIM: 143870

Related Diseases for Hypercalciuria, Absorptive, 2

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 148)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets with hypercalciuria, hereditary 33.3 ADCY10 CLDN16 SLC34A3
2 dent disease 1 33.1 CLCN5 CLDN16
3 bartter syndrome, type 2, antenatal 33.0 CASR KCNJ1
4 hypocalcemia, autosomal dominant 1 32.3 CASR CLDN16 VDR
5 bartter disease 32.0 CASR CLCN5 KCNJ1
6 hypophosphatemic rickets, x-linked recessive 31.9 CLCN5 SLC34A3 VDR
7 nephrolithiasis, calcium oxalate 31.8 CASR CLCN5 VDR
8 hyperparathyroidism 30.9 CASR VDR
9 rickets 30.3 CLCN5 SLC34A3 VDR
10 primary hypomagnesemia 30.1 ADCY10 CLDN16
11 primary hyperparathyroidism 30.0 CASR VDR
12 osteomalacia 30.0 CASR VDR
13 bone disease 29.9 CASR SLC34A3 VDR
14 renal osteodystrophy 29.8 CASR VDR
15 parathyroid adenoma 29.7 CASR VDR
16 hypophosphatemia 29.7 CLCN5 SLC34A3
17 nephrocalcinosis 29.6 CASR CLCN5 CLDN16 KCNJ1 SLC34A3
18 uremia 29.5 CASR VDR
19 idiopathic hypercalciuria 29.1 ADCY10 CASR CLCN5 SLC34A3 VDR
20 nephrolithiasis 27.7 ADCY10 CASR CLCN5 CLDN16 KCNJ1 SLC34A3
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 bartter syndrome, type 1, antenatal 12.1
27 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 12.0
28 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.7
29 hypocalciuric hypercalcemia, familial, type i 11.4
30 renal tubular acidosis, distal 11.3
31 nephrolithiasis, x-linked recessive, with renal failure 11.2
32 bartter syndrome, type 3 11.2
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 11.0
37 renal tubular acidosis, distal, autosomal dominant 11.0
38 dent disease 2 11.0
39 nephrolithiasis/osteoporosis, hypophosphatemic, 1 11.0
40 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.0
41 hypocalcemia, autosomal dominant 2 11.0
42 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.0
43 bartter syndrome type 4 11.0
44 slc4a1-associated distal renal tubular acidosis 11.0
45 idiopathic infantile hypercalcemia 11.0
46 hereditary hypophosphatemic rickets 10.5
47 renal tubular acidosis 10.2
48 bone resorption disease 10.2
49 hypoparathyroidism 10.2
50 acute cystitis 10.2

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



Diseases related to Hypercalciuria, Absorptive, 2

Symptoms & Phenotypes for Hypercalciuria, Absorptive, 2

Human phenotypes related to Hypercalciuria, Absorptive, 2:

33
# Description HPO Frequency HPO Source Accession
1 hypercalciuria 33 HP:0002150
2 calcium oxalate nephrolithiasis 33 HP:0008672

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypercalciuria
increased erythrocyte-membrane calcium-magnesium-atpase
increased sodium-potassium pump activity

Genitourinary Kidneys:
calcium oxalate nephrolithiasis

Clinical features from OMIM:

143870

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:

27
# 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:

47
# 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

Drugs & Therapeutics for Hypercalciuria, Absorptive, 2

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

Cochrane evidence based reviews: hypercalciuria

Genetic Tests for Hypercalciuria, Absorptive, 2

Genetic tests related to Hypercalciuria, Absorptive, 2:

# Genetic test Affiliating Genes
1 Familial Idiopathic Hypercalciuria 30 ADCY10

Anatomical Context for Hypercalciuria, Absorptive, 2

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

42
Bone, Kidney, Skin, Spinal Cord

Publications for Hypercalciuria, Absorptive, 2

Articles related to Hypercalciuria, Absorptive, 2:

# Title Authors Year
1
Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. ( 11932268 )
2002
2
Risk factors for nephrolithiasis in patients with familial idiopathic hypercalciuria. ( 12133747 )
2002
3
No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. ( 11733622 )
2001
4
Familial idiopathic hypercalciuria. ( 2762347 )
1989
5
Familial idiopathic hypercalciuria. ( 3242188 )
1988
6
Familial idiopathic hypercalciuria. ( 449913 )
1979
7
Familial idiopathic hypercalciuria. ( 759893 )
1979

Variations for Hypercalciuria, Absorptive, 2

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

Expression for Hypercalciuria, Absorptive, 2

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

Pathways for Hypercalciuria, Absorptive, 2

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

# Super pathways Score Top Affiliating Genes
1 10.82 CASR SLC34A3 VDR

GO Terms for Hypercalciuria, Absorptive, 2

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 for Hypercalciuria, Absorptive, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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