Dent Disease 1 (DENT1)

Alias:

Dent Disease

Dent's Disease

Dent Disease Type 1

Dent Disease 2

Low-Molecular-Weight Proteinuria with Hypercalciuria and Nephrocalcinosis

Renal Fanconi Syndrome with Nephrocalcinosis and Renal Stones

X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets

Urolithiasis, Hypercalciuric, X-Linked

X-Linked Recessive Nephrolithiasis

Nephrolithiasis 2

Dent Syndrome

Dent1

Nphl2

Fanconi Syndrome, Renal, with Nephrocalcinosis and Renal Stones

Nephrolithiasis-Hypercalciuria X-Linked Recessive

Nephrolithiasis, Hypercalciuric, X-Linked

Dent Disease, Type 1

Dents Disease

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dent Disease 1, also known as dent disease, is related to nephrolithiasis, x-linked recessive, with renal failure and hypophosphatemic rickets, x-linked recessive, and has symptoms including bone pain An important gene associated with Dent Disease 1 is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Hydrochlorothiazide and diuretics have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are proteinuria and aminoaciduria

Related ID：

MALACARDS：DNT020

OMIM：300009

MESH：C538212