Details of Disease

General Information of Disease (ID: DISJFNHL)

Disease Name Dent disease type 2
Synonyms DENT disease 2; Dent disease type 2; dent disease 2, X-linked recessive; nephrolithiasis type 2; OCRL Dent disease; Dent disease caused by mutation in OCRL
Definition Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.
Disease Hierarchy
DISRDLFN: Dent disease
DISJFNHL: Dent disease type 2
Disease Identifiers
MONDO ID
MONDO_0010359
MESH ID
C564487
UMLS CUI
C1845167
OMIM ID
300555
MedGen ID
336867
Orphanet ID
93623
SNOMED CT ID
717790004

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
CLCN5 OT9YXZSO Strong Biomarker [1]
INPP5B OT0SC8W5 Strong Genetic Variation [2]
OCRL OTQ3L42N Definitive X-linked [3]
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References

1 Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules.Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8472-7. doi: 10.1073/pnas.1432873100. Epub 2003 Jun 18.
2 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.Hum Genome Var. 2016 Dec 8;3:16042. doi: 10.1038/hgv.2016.42. eCollection 2016.
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.