MCID: IMP003
MIFTS: 27

Impaired Renal Function Disease

Categories: Nephrological diseases

Aliases & Classifications for Impaired Renal Function Disease

MalaCards integrated aliases for Impaired Renal Function Disease:

Name: Impaired Renal Function Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11705
ICD9CM 35 588.8 588.89
UMLS 73 C0029791

Summaries for Impaired Renal Function Disease

MalaCards based summary : Impaired Renal Function Disease is related to diabetes insipidus, nephrogenic, autosomal and diabetes insipidus, nephrogenic, x-linked. An important gene associated with Impaired Renal Function Disease is AQP2 (Aquaporin 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Aquaporin-mediated transport. Affiliated tissues include kidney and bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Impaired Renal Function Disease

Diseases related to Impaired Renal Function Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, autosomal 30.1 AQP1 AQP2 AQP3 ARHGAP4 ATP6V0A4 AVP
2 diabetes insipidus, nephrogenic, x-linked 10.2 AQP2 AVPR2
3 nephrogenic syndrome of inappropriate antidiuresis 10.2 AVP AVPR2
4 axial osteomalacia 10.2 BGLAP PTH
5 extraskeletal chondroma 10.2 BGLAP PTH
6 ossification of the posterior longitudinal ligament of spine 10.2 AVPR2 BGLAP
7 peripheral vertigo 10.2 AQP2 AVP
8 osteitis fibrosa 10.2 BGLAP PTH
9 hypervitaminosis d 10.2 FGF23 PTH
10 vestibular disease 10.2 AQP2 AVP
11 calciphylaxis 10.2 FGF23 PTH
12 oncogenic osteomalacia 10.2 FGF23 PTH
13 hypophosphatasia, adult 10.2 BGLAP PTH
14 fibrogenesis imperfecta ossium 10.2 AQP1 PTH
15 hypophosphatemic rickets, x-linked dominant 10.2 FGF23 PTH
16 pulmonary alveolar microlithiasis 10.2 FGF23 PTH
17 central pontine myelinolysis 10.2 AQP1 AVP
18 phosphorus metabolism disease 10.2 FGF23 PTH
19 idiopathic edema 10.2 AQP1 AQP2
20 motion sickness 10.2 AQP1 AVP
21 glucocorticoid-induced osteoporosis 10.1 BGLAP PTH
22 inappropriate adh syndrome 10.1 AQP2 AVP AVPR2
23 syndrome of inappropriate antidiuretic hormone 10.1 AQP2 AVP AVPR2
24 diabetes insipidus, neurohypophyseal 10.1 AQP2 AVP AVPR2
25 familial hypocalciuric hypercalcemia 10.1 ARHGAP4 PTH
26 pseudohypoparathyroidism, type ib 10.1 BGLAP PTH
27 metaphyseal chondrodysplasia, jansen type 10.1 FGF23 PTH
28 pseudohypoparathyroidism 10.1 BGLAP PTH
29 secondary hyperparathyroidism of renal origin 10.1 BGLAP FGF23 PTH
30 hyperparathyroidism 10.1 BGLAP FGF23 PTH
31 parathyroid gland disease 10.1 BGLAP FGF23 PTH
32 rickets 10.1 BGLAP FGF23 PTH
33 osteomalacia 10.1 BGLAP FGF23 PTH
34 hypophosphatemia 10.1 BGLAP FGF23 PTH
35 hypoparathyroidism 10.1 BGLAP FGF23 PTH
36 primary hyperparathyroidism 10.1 BGLAP FGF23 PTH
37 mccune-albright syndrome 10.0 BGLAP FGF23
38 chronic kidney failure 10.0 BGLAP FGF23 PTH
39 hypocalcemia, autosomal dominant 1 10.0 FGF23 PTH
40 osteoporosis, juvenile 10.0 BGLAP PTH SOST
41 ischemic bone disease 10.0 BGLAP PTH SOST
42 bone resorption disease 10.0 BGLAP PTH SOST
43 hydrarthrosis 10.0 AQP1 AQP3
44 osteopetrosis, autosomal dominant 2 10.0 BGLAP SOST
45 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.0 AQP2 AQP3 AVP
46 osteopetrosis, autosomal recessive 3 10.0 AQP2 ATP6V0A4
47 fibrous dysplasia 10.0 BGLAP FGF23
48 meniere disease 10.0 AQP1 AQP2 AQP3
49 primary hypomagnesemia 10.0 ATP6V0A4 PTH
50 bartter syndrome, type 1, antenatal 9.9 ATP6V0A4 SLC12A1

Graphical network of the top 20 diseases related to Impaired Renal Function Disease:



Diseases related to Impaired Renal Function Disease

Symptoms & Phenotypes for Impaired Renal Function Disease

MGI Mouse Phenotypes related to Impaired Renal Function Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 AQP1 AQP2 AQP3 ATP6V0A4 AVPR2 FGF23
2 homeostasis/metabolism MP:0005376 9.96 AQP1 AQP2 AQP3 ATP6V0A4 AVP AVPR2
3 mortality/aging MP:0010768 9.81 AQP1 AQP2 AQP3 ATP6V0A4 AVP AVPR2
4 renal/urinary system MP:0005367 9.56 AQP1 AQP2 AQP3 ATP6V0A4 AVP AVPR2
5 skeleton MP:0005390 9.17 AQP1 AQP3 ATP6V0A4 FGF23 PTH SLC12A1

Drugs & Therapeutics for Impaired Renal Function Disease

Search Clinical Trials , NIH Clinical Center for Impaired Renal Function Disease

Genetic Tests for Impaired Renal Function Disease

Anatomical Context for Impaired Renal Function Disease

MalaCards organs/tissues related to Impaired Renal Function Disease:

41
Kidney, Bone

Publications for Impaired Renal Function Disease

Variations for Impaired Renal Function Disease

Expression for Impaired Renal Function Disease

Search GEO for disease gene expression data for Impaired Renal Function Disease.

Pathways for Impaired Renal Function Disease

Pathways related to Impaired Renal Function Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 AQP1 AQP2 AQP3 ATP6V0A4 AVP AVPR2
2
Show member pathways
11.97 AQP1 AQP2 AQP3 AVP AVPR2
3 11.71 AVP AVPR2 PTH
4 11.58 BGLAP FGF23 PTH SOST
5 11.13 BGLAP FGF23
6 11.09 BGLAP PTH
7 11 BGLAP PTH
8 10.57 AQP2 AQP3 AVP AVPR2
9 10.28 BGLAP FGF23 PTH

GO Terms for Impaired Renal Function Disease

Cellular components related to Impaired Renal Function Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.55 AQP2 ARHGAP4 AVPR2 BGLAP SOST
2 basolateral plasma membrane GO:0016323 9.13 AQP1 AQP2 AQP3
3 apical plasma membrane GO:0016324 8.92 AQP1 AQP2 ATP6V0A4 SLC12A1

Biological processes related to Impaired Renal Function Disease according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 AQP1 AQP2 AQP3 SLC12A1
2 response to ethanol GO:0045471 9.72 AVP BGLAP PTH
3 ossification GO:0001503 9.7 ATP6V0A4 BGLAP SOST
4 bone mineralization GO:0030282 9.61 BGLAP PTH
5 odontogenesis GO:0042476 9.61 AQP1 AQP3 BGLAP
6 response to testosterone GO:0033574 9.6 AVP BGLAP
7 positive regulation of vasoconstriction GO:0045907 9.58 AVP AVPR2
8 cellular response to copper ion GO:0071280 9.58 AQP1 AQP2
9 cell volume homeostasis GO:0006884 9.57 AQP1 SLC12A1
10 regulation of bone mineralization GO:0030500 9.56 BGLAP FGF23
11 cellular response to vitamin D GO:0071305 9.54 BGLAP FGF23
12 positive regulation of systemic arterial blood pressure GO:0003084 9.51 AVP AVPR2
13 response to vitamin D GO:0033280 9.5 AQP3 BGLAP PTH
14 cellular response to parathyroid hormone stimulus GO:0071374 9.49 FGF23 SOST
15 multicellular organismal water homeostasis GO:0050891 9.48 AQP1 AVP
16 phosphate ion homeostasis GO:0055062 9.46 FGF23 PTH
17 excretion GO:0007588 9.46 AQP2 AQP3 ATP6V0A4 AVPR2
18 glycerol transport GO:0015793 9.43 AQP1 AQP2 AQP3
19 cellular response to mercury ion GO:0071288 9.4 AQP1 AQP2
20 renal water transport GO:0003097 9.37 AQP1 AQP2
21 water transport GO:0006833 9.26 AQP1 AQP2 AQP3 AVP
22 renal water homeostasis GO:0003091 9.02 AQP1 AQP2 AQP3 AVP AVPR2

Molecular functions related to Impaired Renal Function Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 water transmembrane transporter activity GO:0005372 9.26 AQP1 AQP2
2 glycerol transmembrane transporter activity GO:0015168 9.16 AQP1 AQP2
3 channel activity GO:0015267 9.13 AQP1 AQP2 AQP3
4 water channel activity GO:0015250 8.8 AQP1 AQP2 AQP3

Sources for Impaired Renal Function Disease

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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