RTD
MCID: RNL028
MIFTS: 51
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Renal Tubular Dysgenesis (RTD)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Renal Tubular Dysgenesis:
Characteristics:Orphanet epidemiological data:58
renal tubular dysgenesis
Inheritance: Autosomal recessive,Not applicable;
renal tubular dysgenesis of genetic origin
Inheritance: Autosomal recessive; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
affected infants often die in utero or in the postnatal period HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Respiratory diseases Ear diseases
ICD10:
33
Orphanet: 58
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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).
Fetal urine is the major component of the fluid that surrounds the fetus (amniotic fluid), and anuria leads to decreased amniotic fluid levels (oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays a role in the development of many organs, including the lungs. Oligohydramnios causes a set of abnormalities called the Potter sequence, which includes distinctive facial features such as a flattened nose and large, low-set ears; excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped lungs.
Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In addition, bone development in the skull is abnormal in some affected individuals, causing a large space between the bones of the skull (fontanelles).
As a result of the serious health problems caused by renal tubular dysgenesis, affected individuals usually die before birth, are stillborn, or die soon after birth from respiratory failure. Rarely, with treatment, affected individuals survive into childhood. Their blood pressure usually normalizes, but they quickly develop chronic kidney disease, which is characterized by reduced kidney function that worsens over time.
MalaCards based summary : Renal Tubular Dysgenesis, also known as primitive renal tubule syndrome, is related to twin-to-twin transfusion syndrome and renal artery obstruction. An important gene associated with Renal Tubular Dysgenesis is REN (Renin), and among its related pathways/superpathways are Renin-angiotensin system and p70S6K Signaling. Affiliated tissues include kidney, lung and bone, and related phenotypes are hypertelorism and polyhydramnios NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3033 Definition Renal 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) or inherited in an autosomal recessive manner. Visit the Orphanet disease page for more resources. OMIM : 56 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) KEGG : 36 Autosomal recessive renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. These genes are renin-angiotensin system components which regulate renal growth during embryogenesis. UniProtKB/Swiss-Prot : 73 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). |
Human phenotypes related to Renal Tubular Dysgenesis:58 31 (show all 19)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:267430MGI Mouse Phenotypes related to Renal Tubular Dysgenesis:45
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MalaCards organs/tissues related to Renal Tubular Dysgenesis:40
Kidney,
Lung,
Bone,
Skin,
Liver,
Placenta,
Fetal Liver
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Articles related to Renal Tubular Dysgenesis:(show top 50) (show all 112)
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ClinVar genetic disease variations for Renal Tubular Dysgenesis:6 (show top 50) (show all 350)
UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Dysgenesis:73
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Search
GEO
for disease gene expression data for Renal Tubular Dysgenesis.
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Pathways related to Renal Tubular Dysgenesis according to KEGG:36
Pathways related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:
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Biological processes related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:(show all 24)
Molecular functions related to Renal Tubular Dysgenesis according to GeneCards Suite gene sharing:
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