NPHL2
MCID: DNT020
MIFTS: 59
|
Dent Disease 1 (NPHL2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
|
|
MalaCards integrated aliases for Dent Disease 1:
Characteristics:Orphanet epidemiological data:59
dent disease
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult;
dent disease type 1
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult; OMIM:57
Inheritance:
x-linked recessive
Miscellaneous:
variable phenotypic severity female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only part of 'dent disease complex' see also x-linked nephrocalcinosis , x-linked recessive hypophosphatemic rickets , and low-molecular-weight proteinuria with nephrocalcinosis see also dent disease 2 HPO:32
dent disease 1:
Onset and clinical course phenotypic variability Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Bone diseases
ICD10:
34
External Ids:
|
NIH Rare Diseases
:
53
Dent disease is a chronic kidney disease that primarily affects males. While symptoms and severity vary, they usually begin in childhood and worsen over time. The most common feature of Dent disease is proteinuria (protein in the urine). Other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney stones. Less common features include rickets and mildy short stature. Progressive kidney problems often lead to kidney failure by early to mid-adulthood.
There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are inherited in an X-linked recessive manner.Dent disease type 1 is caused by a mutation in the CLCN5 gene.
Dent disease type 2 is caused by a mutation in the OCRL gene. Males with this form are also at increased risk for mild intellectual disability and hypotonia.
Treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life.
MalaCards based summary : Dent Disease 1, also known as dent disease, is related to nephrolithiasis and lowe oculocerebrorenal syndrome, 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 Inositol phosphate metabolism and Phosphatidylinositol signaling system. Affiliated tissues include kidney, bone and cortex, and related phenotypes are muscular hypotonia and cataract Disease Ontology : 12 A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has material basis in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. Genetics Home Reference : 25 Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time. OMIM : 57 The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (310468), X-linked recessive hypophosphatemic rickets (300554), and low molecular weight proteinuria (308990). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport. (300009) UniProtKB/Swiss-Prot : 75 Nephrolithiasis 2: 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 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. Wikipedia : 76 Dent''s disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the... more...
GeneReviews:
NBK99494
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300009Human phenotypes related to Dent Disease 1:59 32 (show all 46)
UMLS symptoms related to Dent Disease 1:bone pain MGI Mouse Phenotypes related to Dent Disease 1:46
|
Cochrane evidence based reviews: dent disease |
MalaCards organs/tissues related to Dent Disease 1:41
Kidney,
Bone,
Cortex,
Bone Marrow
|
Articles related to Dent Disease 1:(show top 50) (show all 56)
|
UniProtKB/Swiss-Prot genetic disease variations for Dent Disease 1:75 (show all 28)
ClinVar genetic disease variations for Dent Disease 1:6 (show top 50) (show all 204)
|
Search
GEO
for disease gene expression data for Dent Disease 1.
|
Pathways related to Dent Disease 1 according to KEGG:37
Pathways related to Dent Disease 1 according to GeneCards Suite gene sharing:
|
Cellular components related to Dent Disease 1 according to GeneCards Suite gene sharing:(show all 18)
Biological processes related to Dent Disease 1 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Dent Disease 1 according to GeneCards Suite gene sharing:
|
|