Renal Tubular Dysgenesis

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OMIM 57 267430 Orphanet 59 ORPHA3033 ORPHA97369 UMLS via Orphanet 74 C0266313 ICD10 via Orphanet 34 Q63.8

MedGen 42 C0266313 C2678367 KEGG 37 H00575 SNOMED-CT via HPO 69 258211005 90708001 271611007 194021007 22006008 86203003 59566000 282020008 367494004 49550006 86299006 24814002 80825009 409623005 45007003 253883006 702397002 2472002 more UMLS 73 C0266313

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3033Disease definitionRenal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to oligohydramnios and kidney disease. An important gene associated with Renal Tubular Dysgenesis is AGT (Angiotensinogen), and among its related pathways/superpathways are Renin-angiotensin system and p70S6K Signaling. Affiliated tissues include kidney, lung and bone, and related phenotypes are nephropathy and proximal tubulopathy

OMIM : ⁵⁷ Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. (267430)

UniProtKB/Swiss-Prot : ⁷⁵ Renal tubular dysgenesis: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).

Genetics Home Reference : ²⁵ Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal development of the kidneys before birth. In particular, kidney structures called proximal tubules are absent or underdeveloped. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete everything else into the urine. Without functional proximal tubules, the kidneys cannot produce urine (a condition called anuria).

Clinical features from OMIM:

267430

Search Clinical Trials , NIH Clinical Center for Renal Tubular Dysgenesis

Search GEO for disease gene expression data for Renal Tubular Dysgenesis.