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 36 588.8 588.89
UMLS 74 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 Nanog in Mammalian ESC Pluripotency. Affiliated tissues include bone, kidney and brain, 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 67)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus, nephrogenic, autosomal 29.2 AQP1 AQP2 AQP3 AQP4 ARHGAP4 AVP
2 diabetes insipidus, nephrogenic, x-linked 10.4 AQP2 AVPR2
3 nephrogenic syndrome of inappropriate antidiuresis 10.4 AVP AVPR2
4 axial osteomalacia 10.4 BGLAP PTH
5 extraskeletal chondroma 10.3 BGLAP PTH
6 ossification of the posterior longitudinal ligament of spine 10.3 AVPR2 BGLAP
7 osteitis fibrosa 10.3 BGLAP PTH
8 hypervitaminosis d 10.3 FGF23 PTH
9 peripheral vertigo 10.3 AQP2 AVP
10 calciphylaxis 10.3 FGF23 PTH
11 oncogenic osteomalacia 10.3 FGF23 PTH
12 vestibular disease 10.3 AQP2 AVP
13 fibrogenesis imperfecta ossium 10.3 AQP1 PTH
14 hypophosphatasia, adult 10.3 BGLAP PTH
15 hypophosphatemic rickets, x-linked dominant 10.3 FGF23 PTH
16 pulmonary alveolar microlithiasis 10.3 FGF23 PTH
17 phosphorus metabolism disease 10.3 FGF23 PTH
18 glucocorticoid-induced osteoporosis 10.3 BGLAP PTH
19 idiopathic edema 10.3 AQP1 AQP2
20 motion sickness 10.3 AQP1 AVP
21 pseudohypoparathyroidism, type ib 10.2 BGLAP PTH
22 syndrome of inappropriate antidiuretic hormone 10.2 AQP2 AVP AVPR2
23 diabetes insipidus, neurohypophyseal 10.2 AQP2 AVP AVPR2
24 metaphyseal chondrodysplasia, jansen type 10.2 FGF23 PTH
25 pseudohypoparathyroidism 10.2 BGLAP PTH
26 metabolic acidosis 10.2 AQP2 BGLAP PTH
27 hypophosphatemic rickets with hypercalciuria, hereditary 10.2 FGF23 PTH
28 familial hypocalciuric hypercalcemia 10.2 ARHGAP4 PTH
29 secondary hyperparathyroidism of renal origin 10.2 BGLAP FGF23 PTH
30 hyperparathyroidism 10.2 BGLAP FGF23 PTH
31 parathyroid gland disease 10.2 BGLAP FGF23 PTH
32 spinal cord disease 10.2 AQP4 AVPR2
33 osteomalacia 10.2 BGLAP FGF23 PTH
34 hypophosphatemia 10.2 BGLAP FGF23 PTH
35 mineral metabolism disease 10.2 FGF23 PTH
36 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.2 AQP2 AQP3 AVP
37 hypoparathyroidism 10.2 BGLAP FGF23 PTH
38 subependymoma 10.1 AQP1 AQP4
39 rickets 10.1 BGLAP FGF23 PTH
40 primary hyperparathyroidism 10.1 BGLAP FGF23 PTH
41 chronic kidney failure 10.1 BGLAP FGF23 PTH
42 mccune-albright syndrome 10.1 BGLAP FGF23
43 nephrolithiasis 10.1 FGF23 PTH SLC12A1
44 urinary system disease 10.0 AQP2 AVP FGF23 PTH
45 central pontine myelinolysis 10.0 AQP1 AQP4 AVP
46 hypocalcemia, autosomal dominant 1 10.0 FGF23 PTH
47 osteopetrosis, autosomal dominant 2 10.0 BGLAP SOST
48 neuromyelitis optica 10.0 AQP1 AQP4
49 osteoporosis, juvenile 10.0 BGLAP PTH SOST
50 ischemic bone disease 10.0 BGLAP PTH SOST

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 AQP1 AQP2 AQP3 AQP4 AVPR2 FGF23
2 homeostasis/metabolism MP:0005376 9.85 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
3 mortality/aging MP:0010768 9.61 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
4 renal/urinary system MP:0005367 9.23 AQP1 AQP2 AQP3 AQP4 AVP AVPR2

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:

42
Bone, Kidney, Brain, Spinal Cord

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 AQP4 AVP AVPR2
2
Show member pathways
12.85 AQP1 AQP2 AQP3 AQP4 FGF23
3 11.71 AVP AVPR2 PTH
4 11.65 BGLAP FGF23 PTH SOST
5
Show member pathways
11.58 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
6 11.11 BGLAP PTH
7 11.02 BGLAP PTH
8 11 AQP2 AQP3 AQP4 AVP AVPR2
9 10.48 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 apical plasma membrane GO:0016324 9.26 AQP1 AQP2 MIP SLC12A1
2 basolateral plasma membrane GO:0016323 8.92 AQP1 AQP2 AQP3 AQP4

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 AQP1 AQP2 AQP3 AQP4 MIP SLC12A1
2 response to ethanol GO:0045471 9.72 AVP BGLAP PTH
3 excretion GO:0007588 9.65 AQP2 AQP3 AVPR2
4 odontogenesis GO:0042476 9.63 AQP1 AQP3 BGLAP
5 response to testosterone GO:0033574 9.59 AVP BGLAP
6 positive regulation of vasoconstriction GO:0045907 9.58 AVP AVPR2
7 cellular response to copper ion GO:0071280 9.58 AQP1 AQP2
8 cell volume homeostasis GO:0006884 9.57 AQP1 SLC12A1
9 regulation of bone mineralization GO:0030500 9.56 BGLAP FGF23
10 cellular response to vitamin D GO:0071305 9.54 BGLAP FGF23
11 positive regulation of systemic arterial blood pressure GO:0003084 9.52 AVP AVPR2
12 cellular response to parathyroid hormone stimulus GO:0071374 9.51 FGF23 SOST
13 response to vitamin D GO:0033280 9.5 AQP3 BGLAP PTH
14 phosphate ion homeostasis GO:0055062 9.49 FGF23 PTH
15 cellular response to mercury ion GO:0071288 9.43 AQP1 AQP2
16 multicellular organismal water homeostasis GO:0050891 9.43 AQP1 AQP4 AVP
17 renal water homeostasis GO:0003091 9.43 AQP1 AQP2 AQP3 AQP4 AVP AVPR2
18 renal water transport GO:0003097 9.4 AQP1 AQP2
19 glycerol transport GO:0015793 9.33 AQP1 AQP2 AQP3
20 bone mineralization GO:0030282 9.3 BGLAP
21 water transport GO:0006833 9.1 AQP1 AQP2 AQP3 AQP4 AVP MIP

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.35 AQP1 AQP2 AQP3 AQP4 MIP
2 water transmembrane transporter activity GO:0005372 9.33 AQP1 AQP2 AQP4
3 glycerol transmembrane transporter activity GO:0015168 9.26 AQP1 AQP2
4 water channel activity GO:0015250 9.02 AQP1 AQP2 AQP3 AQP4 MIP

Sources for Impaired Renal Function Disease

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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