RHDA1
MCID: RNL100
MIFTS: 63
|
Renal Hypodysplasia/aplasia 1 (RHDA1)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
|
|
|
MalaCards integrated aliases for Renal Hypodysplasia/aplasia 1:
Characteristics:Inheritance:
Renal Hypodysplasia/aplasia 1:
Autosomal recessive 57
Renal Agenesis:
Autosomal dominant,Autosomal recessive 58
Prevelance:
Renal Agenesis:
1-5/10000 (Worldwide) 58
Age Of Onset:
Renal Agenesis:
Antenatal,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in utero death in utero or in the perinatal period Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases
ICD10:
31
32
ICD11:
33
Orphanet: 58
![]() ![]() External Ids:
|
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) (Updated 08-Dec-2022) MalaCards based summary: Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to fraser syndrome 1 and potter's syndrome. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8), and among its related pathways/superpathways are Signal Transduction and Neural Stem Cells and Lineage-specific Markers. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and lung, and related phenotypes are unilateral renal agenesis and ureteral agenesis GARD: 19 A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s). Orphanet: 58 A rare, congenital renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral or bilateral renal agenesis respectively), accompanied by absent ureter(s). UniProtKB/Swiss-Prot: 73 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: 11 A renal disease that is characterized by the failure of one or both kidneys to develop. Wikipedia: 75 Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail... more... |
Human phenotypes related to Renal Hypodysplasia/aplasia 1:58 30 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:191830 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:45 (show all 19)
|
Drugs for Renal Hypodysplasia/aplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: renal adysplasia |
Organs/tissues related to Renal Hypodysplasia/aplasia 1:
MalaCards :
Kidney,
Uterus,
Lung,
Testis,
Cervix,
Adrenal Gland,
Ovary
|
Articles related to Renal Hypodysplasia/aplasia 1:(show top 50) (show all 2294)
|
ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 1:5 (show top 50) (show all 222)
UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:73
|
Search
GEO
for disease gene expression data for Renal Hypodysplasia/aplasia 1.
|
Pathways 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 18)
|
|