NPHL1
MCID: NPH046
MIFTS: 32

Nephrolithiasis, Type I (NPHL1) malady

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, Type I

Aliases & Descriptions for Nephrolithiasis, Type I:

Name: Nephrolithiasis, Type I 54 13
Nephrolithiasis with Renal Failure X-Linked Recessive 66 29
Nephrolithiasis 1 24 66
Nephrolithiasis 42 69
Nphl1 24 66
Xrn 24 66
X-Linked Recessive Nephrolithiasis with Renal Failure 69
Nephrolithiasis, X-Linked Recessive Type 1 24
Urolithiasis, X-Linked Recessive Type 1 24
Nephrolithiasis Type I 24
Kidney Calculi 69

Characteristics:

HPO:

32
nephrolithiasis, type i:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 310468
MedGen 40 C0403720
MeSH 42 D053040

Summaries for Nephrolithiasis, Type I

UniProtKB/Swiss-Prot : 66 Nephrolithiasis 1: An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Nephrolithiasis type 1 presents with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia.

MalaCards based summary : Nephrolithiasis, Type I, also known as nephrolithiasis with renal failure x-linked recessive, is related to nephrolithiasis and nephrolithiasis, uric acid, and has symptoms including hypercalciuria, nephrocalcinosis and nephrolithiasis. An important gene associated with Nephrolithiasis, Type I is CLCN5 (Chloride Voltage-Gated Channel 5). The drugs Verapamil and Losartan have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone.

OMIM : 54 X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which... (310468) more...

Related Diseases for Nephrolithiasis, Type I

Diseases in the Nephrolithiasis family:

Nephrolithiasis, Type I

Diseases related to Nephrolithiasis, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
id Related Disease Score Top Affiliating Genes
1 nephrolithiasis 12.4
2 nephrolithiasis, uric acid 12.2
3 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.1
4 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.1
5 dent disease 11.9
6 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.7
7 adenine phosphoribosyltransferase deficiency 11.1
8 hyperglycinuria 11.1
9 hypophosphatemic rickets 11.0
10 hypouricemia, renal 10.8
11 hypouricemia, renal, 2 10.8
12 renal tubular acidosis, distal, ar 10.8
13 hypotonia-cystinuria syndrome 10.8
14 dent disease 2 10.8
15 renal tubular acidosis with deafness 10.7
16 hyperoxaluria, primary, type 1 10.7
17 polycystic kidney disease, adult type i 10.7
18 renal tubular acidosis, distal, ad 10.7
19 slc4a1-associated distal renal tubular acidosis 10.7
20 hypercalciuria, absorptive 10.7
21 renal tubular acidosis, distal, autosomal recessive 10.7
22 hyperoxaluria, primary, type ii 10.7
23 nephrocalcinosis 10.2
24 kidney disease 10.0
25 ureterolithiasis 10.0
26 obesity 10.0
27 medullary sponge kidney 9.9
28 hyperparathyroidism 9.9
29 cystinuria 9.9
30 polycystic kidney disease 9.9
31 renal tubular acidosis 9.9
32 pyelonephritis 9.9
33 autosomal dominant polycystic kidney disease 9.9
34 thalassemia 9.8
35 gout 9.8
36 glycogen storage disease 9.8
37 hyperuricemia 9.8
38 hypophosphatemia 9.8
39 idiopathic hypercalciuria 9.8
40 rickets 9.7
41 osteoporosis 9.7
42 colitis 9.6
43 atherosclerosis 9.6
44 hypokalemia 9.6
45 muscular dystrophy 9.6
46 cholelithiasis 9.6
47 pseudoxanthoma elasticum 9.6
48 intestinal disease 9.6
49 spinal cord injury 9.6
50 hydronephrosis 9.6

Comorbidity relations with Nephrolithiasis, Type I via Phenotypic Disease Network (PDN): (show all 19)


Acute Cystitis Acute Kidney Failure
Bladder Neck Obstruction Chronic Kidney Failure
Chronic Myocardial Ischemia Deficiency Anemia
Hydronephrosis Hyperparathyroidism
Hypertension, Essential Nephrolithiasis, Uric Acid
Nephrosclerosis Paralytic Ileus
Prostate Cancer Prostatic Hypertrophy
Pyelonephritis Ureterolithiasis
Urethral Calculus Urethral Stricture
Urinary Tract Obstruction

Graphical network of the top 20 diseases related to Nephrolithiasis, Type I:



Diseases related to Nephrolithiasis, Type I

Symptoms & Phenotypes for Nephrolithiasis, Type I

Symptoms by clinical synopsis from OMIM:

310468

Clinical features from OMIM:

310468

Human phenotypes related to Nephrolithiasis, Type I:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 hypercalciuria 32 HP:0002150
2 nephrocalcinosis 32 HP:0000121
3 nephrolithiasis 32 HP:0000787
4 proximal tubulopathy 32 HP:0000114
5 glomerulosclerosis 32 HP:0000096
6 chronic kidney disease 32 HP:0012622
7 tubular atrophy 32 HP:0000092
8 low-molecular-weight proteinuria 32 HP:0003126
9 tubulointerstitial fibrosis 32 HP:0005576
10 microscopic hematuria 32 HP:0002907

UMLS symptoms related to Nephrolithiasis, Type I:


renal pain

Drugs & Therapeutics for Nephrolithiasis, Type I

Drugs for Nephrolithiasis, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 4 52-53-9 2520
2
Losartan Approved Phase 4 114798-26-4 3961
3
Selenium Approved, Vet_approved Phase 4 7782-49-2
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
5
Angiotensin II Phase 4 68521-88-0, 11128-99-7 65143 172198
6 calcium channel blockers Phase 4
7 Trace Elements Phase 4,Phase 2
8 Vasodilator Agents Phase 4
9 Angiotensin II Type 1 Receptor Blockers Phase 4
10 Angiotensin Receptor Antagonists Phase 4
11 Angiotensinogen Phase 4
12 Anti-Arrhythmia Agents Phase 4
13 Vitamins Phase 4,Phase 2
14 Protective Agents Phase 4
15 Antihypertensive Agents Phase 4
16 Retinol palmitate Phase 4
17 Micronutrients Phase 4,Phase 2
18 Bone Density Conservation Agents Phase 4,Phase 2
19 Antioxidants Phase 4
20 Calcium, Dietary Phase 4,Phase 2,Phase 1
21 retinol Nutraceutical Phase 4
22
Calcium carbonate Approved Phase 2 471-34-1
23
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
24 vitamin d Phase 2
25 Gastrointestinal Agents Phase 2
26 Antacids Phase 2
27 Anti-Ulcer Agents Phase 2
28 Calciferol Nutraceutical Phase 2
29 Calcium Supplement Nutraceutical Phase 2
30 Liver Extracts Phase 1
31 Atazanavir Sulfate

Interventional clinical trials:


id Name Status NCT ID Phase
1 Are There Protective Effects of Antioxidants, Calcium Channel Blocker and Angiotensin Receptor Blocker Against Extracorporeal Shockwaves Lithotripsy Induced Renal Injury? Completed NCT01675362 Phase 4
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3
3 A Dose-Ranging Study of MK-5442 in Postmenopausal Women With Osteoporosis (MK-5442-001) Terminated NCT00960934 Phase 2
4 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Active, not recruiting NCT02795325 Phase 1
5 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
6 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
7 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
8 Kidney Stone Risk Factors in Patients Infected With HIV Recruiting NCT02457494
9 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Not yet recruiting NCT02794649
10 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Nephrolithiasis, Type I

Cochrane evidence based reviews: nephrolithiasis

Genetic Tests for Nephrolithiasis, Type I

Genetic tests related to Nephrolithiasis, Type I:

id Genetic test Affiliating Genes
1 X-Linked Recessive Nephrolithiasis with Renal Failure 29
2 Nephrolithiasis Type I 24 CLCN5

Anatomical Context for Nephrolithiasis, Type I

MalaCards organs/tissues related to Nephrolithiasis, Type I:

39
Kidney, Bone

Publications for Nephrolithiasis, Type I

Variations for Nephrolithiasis, Type I

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

66
id Symbol AA change Variation ID SNP ID
1 CLCN5 p.Gly506Glu VAR_001620 rs151340625

Expression for Nephrolithiasis, Type I

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

Pathways for Nephrolithiasis, Type I

GO Terms for Nephrolithiasis, Type I

Sources for Nephrolithiasis, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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