Renal Hypodysplasia/aplasia 1 (RHDA1)

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OMIM 57 191830 Disease Ontology 12 DOID:14766 Orphanet 59 ORPHA411709 ICD10 via Orphanet 34 Q60.2 Q60.0 Q60.1

UMLS via Orphanet 74 C1609433 C0542519 C1619700 MedGen 42 C1619700 C1609433 SNOMED-CT via HPO 69 263681008 258211005 29738008 204942005 204949001 87380008 194021007 22006008 95515009 8913004 31401003 24184005 38341003 59566000 249808002 397932003 24814002 80825009 more UMLS 73 C1619700 C1609433

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 agenesis, bilateral and fraser syndrome 1. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8). The drugs Pharmaceutical Solutions and Anesthetics, Local 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

Disease Ontology : ¹² A renal disease that is characterized by the failure of one or both kidneys to develop.

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.

Wikipedia : ⁷⁶ Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more...

Clinical features from OMIM:

191830

Search NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.