Renal Hypodysplasia/aplasia 1 (RHDA1)

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Disease Ontology 12 DOID:14766 OMIM 56 191830 OMIM Phenotypic Series 56 PS191830 ICD10 32 Q60.2 ICD10 via Orphanet 33 Q60.0 Q60.1 Q60.2

UMLS via Orphanet 72 C0542519 C1609433 C1619700 Orphanet 58 ORPHA411709 MedGen 41 C1609433 C1619700 SNOMED-CT via HPO 68 194021007 204712000 204731006 204942005 204949001 22006008 236423003 24184005 24814002 249808002 253549006 258211005 263681008 29738008 300506000 30288003 31401003 38341003 397932003 41962002 42399005 5286009 55726006 59566000 702610009 80825009 87380008 8913004 95515009 more UMLS 71 C1609433 C1619700

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 411709 Definition Renal 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). Epidemiology The 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 description Most 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. Etiology Renal 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 counseling In 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 congenital anomalies of kidney and urinary tract 2. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8), and among its related pathways/superpathways are ECM-receptor interaction and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Calcium and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, and related phenotypes are unilateral renal agenesis and ureteral agenesis

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

OMIM : ⁵⁶ 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 : ⁷³ 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 : ⁷⁴ 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.