Renal hypodysplasia/aplasia 1

Preferred Label : Renal hypodysplasia/aplasia 1;

Symbol : RHDA1;

CISMeF acronym : HRA; RHDA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Renal aplasia; Renal agenesis; Hereditary renal aplasia; HRA; Renal adysplasia;

Description : Bilateral renal agenesis (BRA) belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD) and severe obstructive uropathy. The estimated incidence of perinatally lethal renal disease is 1 in 4,000 to 1 in 6,400 births with an apparent male preponderance. 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 belong to a pathogenic continuum or phenotypic spectrum (Joss et al., 2003). Buchta et al. (1973) coined the term hereditary renal 'adysplasia,' which combines the terms aplasia and dysplasia. See also 193000 for a discussion of congenital anomalies of the kidney and urinary tract (CAKUT), which shows some phenotypic overlap with the disorder described here.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the integrin, alpha-8 gene (ITGA8, 604063.0001);

Prefixed ID : #191830;

Details

Origin ID

191830;

UMLS CUI

C1619700;

Automatic exact mappings (from CISMeF team)
- HRAS wt Allele [NCIt concept]
- High Resolution Anoscopy [NCIt concept]
- Renal dysplasia [HPO term]
- renal agenesis [DO Concept]
Currated CISMeF NLP mapping
- Bilateral Renal Agenesis [NCIt concept]
- Kidney agenesis [PASCAL descriptor]
- RENAL AGENESIS [WHO-ART Preferred Term]
- Renal Agenesis [NCIt concept]
- Renal agenesis [ORDO Disease]
- Renal agenesis [ICD-11 Sub-sub category]
- Renal agenesis [HPO term]
- Renal agenesis [MedDRA LLT]
- Renal agenesis (disorder) [SNOMED CT concept]
- Renal aplasia [MedDRA Preferred Term]
- Renal dysplasia/aplasia [HPO term]
- hereditary renal agenesis [MeSH Supplementary Concept]
- renal adysplasia [MeSH concept]
- renal adysplasia [MeSH Supplementary Concept]
- renal agenesis [Radlex concept]
DO Cross reference
- renal agenesis [DO Concept]
Genes related to phenotype
- Integrin, alpha-8 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Congenital onset [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Low-set ears [HPO term]
- Oligohydramnios [HPO term]
- Potter facies [HPO term]
- Primary amenorrhea [HPO term]
- Proteinuria [HPO term]
- Pulmonary hypoplasia [HPO term]
- Receding chin [HPO term]
- Renal agenesis [HPO term]
- Renal dysplasia [HPO term]
- Renal dysplasia/aplasia [HPO term]
- Retrognathia [HPO term]
- Talipes equinovarus [HPO term]
- Vaginal atresia [HPO term]
ORDO concept(s)
- Renal agenesis [ORDO Disease]
- Renal agenesis, bilateral [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Renal aplasia [MedDRA Preferred Term]
- Renal dysplasia/aplasia [HPO term]
- renal adysplasia [MeSH Supplementary Concept]
- renal adysplasia [MeSH concept]
Validated automatic mappings to BTNT
- Bilateral renal agenesis [HPO term]
- Oligohydramnios sequence (disorder) [SNOMED CT concept]
- Renal agenesis, bilateral [ICD-10 Sub-category]
- Renal agenesis, bilateral [ORDO Disease]
- Renal agenesis, bilateral [ICD-10 Sub-category (who)]

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