NPH
MCID: NPH005
MIFTS: 62
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Nephronophthisis (NPH)
Categories:
Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nephronophthisis:
Characteristics:Inheritance:
Autosomal recessive 58
Prevelance:
1-9/100000 (Finland) 58
Age Of Onset:
Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Nephrological diseases Eye diseases Neuronal diseases Liver diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
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MedlinePlus Genetics: 42 Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis. MalaCards based summary: Nephronophthisis, also known as medullary cystic disease, is related to nephronophthisis 1 and senior-loken syndrome 1. An important gene associated with Nephronophthisis is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. The drug Coal tar has been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and eye, and related phenotypes are abnormality of retinal pigmentation and renal insufficiency Orphanet: 58 A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset. GARD: 19 A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, cystic renal disease and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset. Disease Ontology: 11 A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). Wikipedia 75 Nephronophthisis: Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a... more... Medullary cystic disease: Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by... more...
GeneReviews:
NBK368475
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Human phenotypes related to Nephronophthisis:58 30
MGI Mouse Phenotypes related to Nephronophthisis:45
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Drugs for Nephronophthisis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Organs/tissues related to Nephronophthisis:
MalaCards :
Kidney,
Liver,
Eye,
Heart,
Pancreas,
Endothelial,
Retina
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Articles related to Nephronophthisis:(show top 50) (show all 1178)
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ClinVar genetic disease variations for Nephronophthisis:5 (show top 50) (show all 5082)
Copy number variations for Nephronophthisis from CNVD:6
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Search
GEO
for disease gene expression data for Nephronophthisis.
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Pathways related to Nephronophthisis according to GeneCards Suite gene sharing:
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Cellular components related to Nephronophthisis according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Nephronophthisis according to GeneCards Suite gene sharing:(show all 16)
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