Mosaic variegated aneuploidy syndrome 3

Preferred Label : Mosaic variegated aneuploidy syndrome 3;

Symbol : MVA3;

CISMeF acronym : MVA3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 13 gene (TRIP13, 604507.0001);

Neoplasia : Wilms tumor;

Laboratory abnormalities : Premature chromatid separation; Chromosome instability; Aneuploidy;

Prefixed ID : #617598;

Details

Origin ID

617598;

UMLS CUI

C4539839;

Automatic exact mappings (from CISMeF team)
- mosaic variegated aneuploidy syndrome 3 [DO Concept]
DO Cross reference
- mosaic variegated aneuploidy syndrome 3 [DO Concept]
Genes related to phenotype
- Thyroid hormone receptor interactor 13 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Microcephaly [HPO term]
- Nephroblastoma [HPO term]
- Premature chromatid separation [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Mosaic variegated aneuploidy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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