Mosaic variegated aneuploidy syndrome 2

Preferred Label : Mosaic variegated aneuploidy syndrome 2;

Symbol : MVA2;

CISMeF acronym : MVA2;

Type : Phenotype, molecular basis known;

Description : Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011). See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 57-kD centrosomal protein gene (CEP57, 607951.0001);

Laboratory abnormalities : Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes; Chromosomal structural abnormalities;

Prefixed ID : #614114;

Details

Origin ID

614114;

UMLS CUI

C3279843;

Currated CISMeF NLP mapping
- Mosaic Variegated Aneuploidy Syndrome 2 [NCIt concept]
- mosaic variegated aneuploidy syndrome 2 [DO Concept]
- mosaic variegated aneuploidy syndrome 2 [Disease (Nov.)]
DO Cross reference
- mosaic variegated aneuploidy syndrome 2 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 57-kd [OMIM gene]
HPO term(s)
- Abnormal lung lobation [HPO term]
- Aortic regurgitation [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Cafe-au-lait spot [HPO term]
- Clinodactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Craniosynostosis [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Deeply set eye [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duodenal atresia [HPO term]
- Epicanthus [HPO term]
- Epidermoid cyst [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hypotelorism [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Prominent forehead [HPO term]
- Rhizomelia [HPO term]
- Round ear [HPO term]
- Severe intrauterine growth retardation [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sleep apnea [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Temporal bossing [HPO term]
- Triangular face [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Mosaic variegated aneuploidy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mosaic Variegated Aneuploidy Syndrome 2 [NCIt concept]
- mosaic variegated aneuploidy syndrome 2 [DO Concept]
- mosaic variegated aneuploidy syndrome 2 [Disease (Nov.)]

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