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1,080 Possible Causes for Nephronophthisis

  • Cystic Kidney

    BACKGROUND: Medullary cystic kidney disease (MCKD) is an inherited interstitial nephritis, leading to end-stage renal disease (ESRD) between the fourth and seventh decade[ncbi.nlm.nih.gov] (FJN) and medullary cystic kidney disease.[renalandurologynews.com] Medullary cystic kidney disease, autosomal recessive: A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both[medicinenet.com]

  • Familial Interstitial Nephritis

    The condition appears to be similar to familial juvenile nephronophthisis.[ncbi.nlm.nih.gov] (FJN) and medullary cystic kidney disease (MCKD).[renalandurologynews.com] […] of onset 10 adolescent (a.k.a. medullary cystic kidney disease): usually develops in patients in their thirties There can be clinical triad comprising of uremia, anemia,[radiopaedia.org]

  • Congenital Hepatic Fibrosis

    Histologically, the renal lesion resembles nephronophthisis, and the hepatic lesion resembles congenital hepatic fibrosis.[ncbi.nlm.nih.gov] 447562003 MAPTARGET Q44.7 6011000124106 MAPRULE IFA 721847002 Joubert syndrome with congenital hepatic fibrosis 6011000124106 MAPTARGET Q61.5 6011000124106 MAPADVICE IF NEPHRONOPHTHISIS[bioportal.bioontology.org] AR 14 16 NPHP1 Nephronophthisis, Joubert syndrome, Senior-Loken syndrome AR 16 73 NPHP3 Nephronophthisis, Renal-hepatic-pancreatic dysplasia, Meckel syndrome AR 31 74 NPHP4[blueprintgenetics.com]

  • Meckel Syndrome Type 7

    […] of Meckel syndrome, see MKS1 (249000). (267010) MalaCards based summary : Meckel Syndrome, Type 7, also known as meckel syndrome 7, is related to dandy-walker complex and nephronophthisis[malacards.org] There is a significant genetic and clinical overlap with other ciliopathies as the Joubert syndrome or Nephronophthisis.[neocyst.de] cystic kidney disease type 2 UMOD Menkes disease ATP7A Multiple endocrine neoplasia type 1 MEN1 Nephrogenic syndrome of inapproriate antidiuresis AVPR2 Nephrolithiasis type[centogene.com]

  • Medullary Sponge Kidney

    cystic kidney disease Dent disease Nephronophthisis Best Tests Subscription Required References Subscription Required Last Updated: 09/16/2016[visualdx.com] […] renal tubular acidosis (type 1) hypervitaminosis D milk-alkali syndrome other pathological hypercalcemic or hypercalciuric states medullary cysts medullary cystic disease (nephronophthisis[radiopaedia.org] ICD10CM: Q61.5 – Medullary cystic kidney SNOMEDCT: 236443009 – Medullary sponge kidney Differential Diagnosis & Pitfalls Differential diagnosis of medullary cystic lesions: Medullary[visualdx.com]

  • Senior Loken Syndrome

    Our report underlines the need to investigate liver disorders in all patients with nephronophthisis and the existence of liver fibrosis as an element of the hereditary 'nephronophthisis[ncbi.nlm.nih.gov] Renal histological changes are those of nephronophthisis with tubulointerstitial lesions and multiple cysts.[ncbi.nlm.nih.gov] AR 16 34 IQCB1 Senior-Loken syndrome AR 24 41 NPHP1 Nephronophthisis, Joubert syndrome, Senior-Loken syndrome AR 19 76 NPHP3 Nephronophthisis, Renal-hepatic-pancreatic dysplasia[blueprintgenetics.com]

  • Nephronophthisis 3

    Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.[en.wikipedia.org] What is nephronophthisis?[patientslikeme.com] The gene for adolescent nephronophthisis (NPHP3) has been mapped to chromosome 3q21-- q22.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    […] to navigation Jump to search congenital disorder of urinary system medullary cystic kidney medullary cystic disease edit Language Label Description Also known as English nephronophthisis[wikidata.org] Mutations in the INVS (NPHP2) gene were found in a few patients with infantile nephronophthisis.[ncbi.nlm.nih.gov] Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.[en.wikipedia.org]

  • Nephronophthisis 12

    […] to navigation Jump to search congenital disorder of urinary system medullary cystic kidney medullary cystic disease edit Language Label Description Also known as English nephronophthisis[wikidata.org] Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.[en.wikipedia.org] Nephronophthisis (NPHP), an autosomal recessive kidney disease, is the most frequent genetic cause of end-stage renal failure in the first three decades of life.[mdc-berlin.de]

  • Nephronophthisis 13

    Nephronophthisis is a genetic disorder of the kidneys which affects children. It is classified as a medullary cystic kidney disease.[en.wikipedia.org] Hackzell G, Lundmark C: Familial juvenile nephronophthisis. Acta Paediatr 47:428, 1958. 33. Broberger 0, Winberg J, Zetterstrom R: Juvenile nephronophthisis.[healio.com] Nephronophthisis is found in populations worldwide.[ghr.nlm.nih.gov]

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