Details of Disease

General Information of Disease (ID: DISNGJIQ)

Disease Name Dent disease type 1
Synonyms
urolithiasis, hypercalciuric, X-linked; DENT disease 1; nephrolithiasis, hypercalciuric, X-linked; nephrolithiasis 2; dent disease 1, X-linked recessive; CLCN5 Dent disease; Dent disease type 1; Dent disease caused by mutation in CLCN5; nephrolithiasis type 1
Definition Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.
Disease Hierarchy
DISRDLFN: Dent disease
DISNGJIQ: Dent disease type 1
Disease Identifiers
MONDO ID
MONDO_0010225
MESH ID
C538212
UMLS CUI
C1848336
OMIM ID
300009
MedGen ID
336322
Orphanet ID
93622
SNOMED CT ID
717789008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OCRL OTQ3L42N Limited Genetic Variation [1]
BSND OTYWZWPD Strong Altered Expression [2]
CLCN5 OT9YXZSO Definitive X-linked [3]
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References

1 Muscle involvement in Dent disease 2.Pediatr Nephrol. 2014 Nov;29(11):2127-32. doi: 10.1007/s00467-014-2841-4. Epub 2014 Jun 7.
2 Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl(-)/H(+) Antiporter ClC-5.Front Physiol. 2018 Oct 23;9:1490. doi: 10.3389/fphys.2018.01490. eCollection 2018.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.