NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NEPHROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 NEPHROLITHIASIS 1 XRN NPHL1 |
| Number of Symptoms | 15 |
| OrphanetNr: | |
| OMIM Id: |
310468
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000096) | Glomerulosclerosis | 11 / 7739 | ||||
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(HPO:0000092) | Tubular atrophy | 28 / 7739 | ||||
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(HPO:0002907) | Microscopic hematuria | 27 / 7739 | ||||
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(HPO:0000114) | Proximal tubulopathy | 18 / 7739 | ||||
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(HPO:0000121) | Nephrocalcinosis | 57 / 7739 | ||||
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(HPO:0012622) | Chronic kidney disease | 32 / 7739 | ||||
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(HPO:0000787) | Nephrolithiasis | 78 / 7739 | ||||
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(HPO:0003126) | Low-molecular-weight proteinuria | 7 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | 232 / 7739 | ||||
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(HPO:0002150) | Hypercalciuria | 45 / 7739 | ||||
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(HPO:0005576) | Tubulointerstitial fibrosis | 32 / 7739 | ||||
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(OMIM) | Interstitial fibrosis | 24 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Renal biopsy shows tubular atrophy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
X-linked recessive nephrolithiasis with renal failure is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency. These disorders have also been referred to ... |
| Clinical Description OMIM |
Frymoyer et al. (1991) reported a large kindred living in the St. Lawrence valley of northern New York, descendants of 19th century Irish immigrants, with nephrolithiasis inherited in an X-linked recessive pattern. Nine affected males had onset in ... |
| Molecular genetics OMIM |
In affected members from 2 unrelated North American families with X-linked recessive nephrolithiasis, Lloyd et al. (1996) identified 2 different mutations in the CLCN5 gene (300008.0005; 300008.0006). In affected members of a kindred with X-linked recessive ... |