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MCID: RNL100
MIFTS: 57
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Renal Hypodysplasia/aplasia 1
Categories:
Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases
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MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:
Characteristics:Orphanet epidemiological data:59
renal agenesis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Worldwide); Age of onset: Antenatal,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero death in utero or in the perinatal period HPO:32
renal hypodysplasia/aplasia 1:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 411709Disease definitionRenal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).EpidemiologyThe annual incidence of RA is estimated at around 1/2,000. Fetal prevalence of bilateral renal agenesis in Europe has been estimated at 1/8,500.Clinical descriptionMost patients with unilateral RA are asymptomatic if the other kidney is fully functional and the disease is commonly detected as a chance observation. However, hypertension, proteinuria and renal failure may develop in the long run (20-50% of cases at the age of 30). Unilateral RA is occasionally associated with genital tract anomalies on the same side (e.g. seminal vesicle hypoplasia and absence of the vas deferens), cardiac anomalies (such as atrial or ventricular septal defects) and/or gastrointestinal anomalies (such as anal atresia). Bilateral RA is characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.EtiologyRenal agenesis results from a developmental failure of the ureteric bud and the metanephric mesenchyme. Unilateral renal agenesis can be caused by mutations in many genes, such as RET (10q11.2), BMP4 (14q22-q23), FRAS1 (4q21.21), FREM1 (9p22.3), or UPK3A (22q13.31). A few cases of bilateral renal agenesis have been found to be caused by mutations in the RET, FGF20 (8p22) or ITGA8 (10p13) genes. Maternal diabetes mellitus or use of specific drugs during pregnancy can also result in renal agenesis.Genetic counselingIn familial cases, unilateral RA is inherited in an autosomal dominant manner with incomplete penetrance. Bilateral RA is inherited autosomal recessively.Visit the Orphanet disease page for more resources.
MalaCards based summary : Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to renal hypodysplasia/aplasia 3 and aniridia renal agenesis psychomotor retardation. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Menthol and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and lung, and related phenotypes are hypertelorism and low-set ears OMIM : 57 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). (191830) UniProtKB/Swiss-Prot : 75 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. Disease Ontology : 12 A renal disease that is characterized by the failure of one or both kidneys to develop. Wikipedia : 76 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:191830Human phenotypes related to Renal Hypodysplasia/aplasia 1:32 (show all 14)
MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:46 (show all 15)
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Drugs for Renal Hypodysplasia/aplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:41
Kidney,
Uterus,
Lung,
Testis,
Eye,
Prostate,
Colon
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Articles related to Renal Hypodysplasia/aplasia 1:(show top 50) (show all 550)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:75
ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:6
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Search
GEO
for disease gene expression data for Renal Hypodysplasia/aplasia 1.
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Cellular components related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:
Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:(show all 24)
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