MCID: HYP733
MIFTS: 30

Hypercalciuria, Absorptive, 2

Categories: Genetic diseases

Aliases & Classifications for Hypercalciuria, Absorptive, 2

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 autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

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

Summaries for Hypercalciuria, Absorptive, 2

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 idiopathic hypercalciuria, 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. 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 all 37)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets with hypercalciuria, hereditary 32.5 ADCY10 CLDN16 SLC34A3
2 idiopathic hypercalciuria 27.3 ADCY10 CASR CLCN5 SLC34A3 VDR
3 hypercalciuria, absorptive, 1 12.3
4 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.2
5 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.1
6 calciphylaxis 10.3 CASR VDR
7 hypercalcemia, infantile, 1 10.3 CASR VDR
8 hypocalcemia, autosomal dominant 1 10.3 CASR VDR
9 secondary hyperparathyroidism of renal origin 10.3 CASR VDR
10 bartter syndrome, type 2, antenatal 10.3 CASR KCNJ1
11 xanthinuria, type i 10.2 CASR VDR
12 renal osteodystrophy 10.2 CASR VDR
13 hyperphosphatemia 10.2 CASR VDR
14 osteomalacia 10.2 CASR VDR
15 gitelman syndrome 10.1 CASR KCNJ1
16 primary hypomagnesemia 10.1 ADCY10 CLDN16
17 dent disease 1 10.1 CLCN5 KCNJ1
18 renal tubular transport disease 10.1 CLCN5 KCNJ1
19 parathyroid adenoma 10.0 CASR VDR
20 hypokalemia 10.0 CASR KCNJ1
21 uremia 10.0 CASR VDR
22 parathyroid gland disease 10.0 ADCY10 CASR VDR
23 hypophosphatemic rickets, x-linked dominant 9.8 SLC34A3 VDR
24 primary hyperparathyroidism 9.8 CASR VDR
25 nephrolithiasis, calcium oxalate 9.7 CASR CLCN5 VDR
26 bartter disease 9.7 CASR CLCN5 KCNJ1
27 chronic kidney failure 9.6 CASR CLDN16 VDR
28 hyperparathyroidism 9.6 CASR VDR
29 hypophosphatemia 9.6 CLCN5 SLC34A3
30 osteoporosis 9.5 ADCY10 CASR VDR
31 phosphorus metabolism disease 9.4 CASR SLC34A3 VDR
32 nephrocalcinosis 9.4 CLCN5 CLDN16 KCNJ1
33 bone disease 9.3 CASR SLC34A3 VDR
34 hypophosphatemic rickets, x-linked recessive 9.3 CLCN5 SLC34A3 VDR
35 rickets 9.2 CLCN5 SLC34A3 VDR
36 nephrolithiasis 8.6 CASR CLCN5 CLDN16 SLC34A3
37 mineral metabolism disease 7.4 CASR CLCN5 CLDN16 KCNJ1 SLC34A3 VDR

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



Diseases related to Hypercalciuria, Absorptive, 2

Symptoms & Phenotypes for Hypercalciuria, Absorptive, 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
calcium oxalate nephrolithiasis

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


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 KCNJ1 SLC34A3 VDR ADCY10 CASR CLCN5
2 renal/urinary system MP:0005367 9.1 SLC34A3 VDR CASR CLCN5 CLDN16 KCNJ1

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 29 ADCY10

Anatomical Context for Hypercalciuria, Absorptive, 2

Publications for Hypercalciuria, Absorptive, 2

Articles related to Hypercalciuria, Absorptive, 2:

# Title Authors Year
1
No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. ( 11733622 )
2001

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 ion transport GO:0006811 9.26 CLCN5 CLDN16 KCNJ1 SLC34A3
2 cellular calcium ion homeostasis GO:0006874 9.16 CASR VDR
3 excretion GO:0007588 8.8 CLCN5 CLDN16 KCNJ1

Sources for Hypercalciuria, Absorptive, 2

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
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