Ventriculomegaly with cystic kidney disease

Preferred Label : Ventriculomegaly with cystic kidney disease;

Symbol : VMCKD;

CISMeF acronym : VMCKD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the crumbs cell polarity complex component 2 gene (CRB2, 609720.0006);

Laboratory abnormalities : Increased alpha-fetoprotein in amniotic fluid; Increased acetylcholinesterase (AChE) in amniotic fluid;

Prefixed ID : #219730;

Details

Origin ID

219730;

UMLS CUI

C1857423;

Currated CISMeF NLP mapping
- Cerebral ventriculomegaly, cystic kidney disease (disorder) [SNOMED CT concept]
- Ventriculomegaly-cystic kidney disease [ORDO Disease]
- cystic kidney disease with ventriculomegaly [MeSH Supplementary Concept]
- cystic kidney disease with ventriculomegaly [MeSH concept]
- ventriculomegaly - cystic kidney disease [DO Concept]
DO Cross reference
- ventriculomegaly - cystic kidney disease [DO Concept]
Genes related to phenotype
- Crumbs cell polarity complex component 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Gray matter heterotopia [HPO term]
- Hydrocephalus [HPO term]
- Polyhydramnios [HPO term]
- Postaxial polydactyly [HPO term]
- Premature birth [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal insufficiency [HPO term]
- Seizure [HPO term]
- Vascular dilatation [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Ventriculomegaly-cystic kidney disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral ventriculomegaly, cystic kidney disease (disorder) [SNOMED CT concept]
- Ventriculomegaly-cystic kidney disease [ORDO Disease]
- cystic kidney disease with ventriculomegaly [MeSH Supplementary Concept]
- cystic kidney disease with ventriculomegaly [MeSH concept]
- ventriculomegaly - cystic kidney disease [DO Concept]

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