Renal tubular dysgenesis

Preferred Label : Renal tubular dysgenesis;

Symbol : RTD;

CISMeF acronym : RTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Primitive renal tubule syndrome;

Included titles and symbols : Renal tubular dysgenesis with choanal atresia and athelia;

Description : Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the angiotensinogen gene (AGT, 106150.0003); Caused by mutation in the renin gene (REN, 179820.0002); Caused by mutation in the angiotensin II receptor type 1 gene (AGTR1, 106165.0003); Caused by mutation in the angiotensin-converting enzyme gene (ACE, 106180.0003);

Prefixed ID : #267430;

Details

Origin ID

267430;

UMLS CUI

C0266313;

Automatic exact mappings (from CISMeF team)
- Renal dysplasia (disorder) [SNOMED CT concept]
- Renal tubular dysgenesis [ICD-11 Subcategory]
- renal tubular dysgenesis with choanal atresia and athelia [MeSH concept]
- renal tubular dysgenesis with choanal atresia and athelia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Allanson Pantzar McLeod syndrome [MeSH concept]
- Renal tubular dysgenesis [PASCAL descriptor]
- Renal tubular dysgenesis [ORDO Disease]
- Renal tubular dysgenesis (disorder) [SNOMED CT concept]
- Renal tubular dysgenesis of genetic origin [ORDO Disease]
- Renotubular dysgenesis [HPO term]
- allanson pantzar McLeod syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Angiotensin II receptor, type 1 [OMIM gene]
- Angiotensinogen [OMIM gene]
- Renin [OMIM gene]
HPO term(s)
- Abnormality of the urinary system [HPO term]
- Anuria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypotension [HPO term]
- Microcephaly [HPO term]
- Oligohydramnios [HPO term]
- Potter facies [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renotubular dysgenesis [HPO term]
- Respiratory insufficiency [HPO term]
- Widely patent fontanelles and sutures [HPO term]
Matching ORDO disease(s)
- Renal tubular dysgenesis [ORDO Disease]
ORDO concept(s)
- Renal tubular dysgenesis [ORDO Disease]
- Renal tubular dysgenesis of genetic origin [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Allanson Pantzar McLeod syndrome [MeSH concept]
- Renal tubular dysgenesis [ORDO Disease]
- Renal tubular dysgenesis [PASCAL descriptor]
- Renal tubular dysgenesis (disorder) [SNOMED CT concept]
- Renal tubular dysgenesis of genetic origin [ORDO Disease]
- Renotubular dysgenesis [HPO term]
- allanson pantzar McLeod syndrome [MeSH Supplementary Concept]

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