MCID: NPH046
MIFTS: 16

Nephrolithiasis, Type I malady

Genetic diseases (common), Nephrological diseases categories

Aliases & Classifications for Nephrolithiasis, Type I

About this section

Nephrolithiasis, Type I, Aliases & Descriptions:

Name: Nephrolithiasis, Type I 45 10
 
Nephrolithiasis, X-Linked Recessive, with Renal Failure 45 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Nephrological diseases


External Ids:

OMIM45 310468

Summaries for Nephrolithiasis, Type I

About this section


OMIM:45 X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which... (310468) more...

MalaCards based summary: Nephrolithiasis, Type I, is also known as nephrolithiasis, x-linked recessive, with renal failure, and has symptoms including tubular atrophy, glomerulosclerosis and proximal tubulopathy. An important gene associated with Nephrolithiasis, Type I is CLCN5 (chloride channel, voltage-sensitive 5). Affiliated tissues include kidney.

Related Diseases for Nephrolithiasis, Type I

About this section

Diseases in the Nephrolithiasis family:

nephrolithiasis, type i

Symptoms for Nephrolithiasis, Type I

About this section

Symptoms by clinical synopsis from OMIM:

310468

Clinical features from OMIM:

310468

HPO human phenotypes related to Nephrolithiasis, Type I:

(show all 12)
id Description Frequency HPO Source Accession
1 tubular atrophy HP:0000092
2 glomerulosclerosis HP:0000096
3 proximal tubulopathy HP:0000114
4 nephrocalcinosis HP:0000121
5 nephrolithiasis HP:0000787
6 x-linked recessive inheritance HP:0001419
7 hypercalciuria HP:0002150
8 microscopic hematuria HP:0002907
9 low-molecular-weight proteinuria HP:0003126
10 phenotypic variability HP:0003812
11 tubulointerstitial fibrosis HP:0005576
12 chronic kidney disease HP:0012622

Drugs & Therapeutics for Nephrolithiasis, Type I

About this section

Drug clinical trials:

Search ClinicalTrials for Nephrolithiasis, Type I

Search NIH Clinical Center for Nephrolithiasis, Type I

Genetic Tests for Nephrolithiasis, Type I

About this section

Genetic tests related to Nephrolithiasis, Type I:

id Genetic test Affiliating Genes
1 X-Linked Recessive Nephrolithiasis with Renal Failure22

Anatomical Context for Nephrolithiasis, Type I

About this section

MalaCards organs/tissues related to Nephrolithiasis, Type I:

31
Kidney

Animal Models for Nephrolithiasis, Type I or affiliated genes

About this section

Publications for Nephrolithiasis, Type I

About this section

Variations for Nephrolithiasis, Type I

About this section

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, Type I:

62
id Symbol AA change Variation ID SNP ID
1CLCN5p.Gly506GluVAR_001620

Expression for genes affiliated with Nephrolithiasis, Type I

About this section
Search GEO for disease gene expression data for Nephrolithiasis, Type I.

Pathways for genes affiliated with Nephrolithiasis, Type I

About this section

Compounds for genes affiliated with Nephrolithiasis, Type I

About this section

GO Terms for genes affiliated with Nephrolithiasis, Type I

About this section

Products for genes affiliated with Nephrolithiasis, Type I

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Nephrolithiasis, Type I

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet