MCID: NPH046
MIFTS: 16

Nephrolithiasis, Type I malady

Genetic diseases (common), Nephrological diseases categories

Aliases & Classifications for Nephrolithiasis, Type I

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Aliases & Descriptions for Nephrolithiasis, Type I:

Name: Nephrolithiasis, Type I 46 9
 
Nephrolithiasis, X-Linked Recessive, with Renal Failure 46 22


Classifications:



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OMIM46 310468

Summaries for Nephrolithiasis, Type I

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OMIM:46 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

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Diseases in the Nephrolithiasis family:

nephrolithiasis, type i

Symptoms for Nephrolithiasis, Type I

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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

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Drug clinical trials:

Search ClinicalTrials for Nephrolithiasis, Type I

Search NIH Clinical Center for Nephrolithiasis, Type I

Genetic Tests for Nephrolithiasis, Type I

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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

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MalaCards organs/tissues related to Nephrolithiasis, Type I:

31
Kidney

Animal Models for Nephrolithiasis, Type I or affiliated genes

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Publications for Nephrolithiasis, Type I

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Variations for Nephrolithiasis, Type I

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

63
id Symbol AA change Variation ID SNP ID
1CLCN5p.Gly506GluVAR_001620

Expression for genes affiliated with Nephrolithiasis, Type I

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

Pathways for genes affiliated with Nephrolithiasis, Type I

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Compounds for genes affiliated with Nephrolithiasis, Type I

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GO Terms for genes affiliated with Nephrolithiasis, Type I

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Sources for Nephrolithiasis, Type I

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet