Chromosome 5Q14.3 deletion syndrome, distal(PVNH5)

MedGen UID:: 442882
•Concept ID:: C2752071
•: Disease or Syndrome

Synonym:	PERIVENTRICULAR NODULAR HETEROTOPIA 5

Monarch Initiative:	MONDO:0013031
OMIM®:	612881

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPeriventricular nodular heterotopia
- CROGVChromosome 5Q14.3 deletion syndrome, distal
- CROGVHeterotopia, periventricular, associated with chromosome 5P anomalies
- CROGVHeterotopia, periventricular, X-linked dominant
- CROGVPeriventricular heterotopia with microcephaly, autosomal recessive

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the nervous system
      - Abnormality of neuronal migration
        Periventricular nodular heterotopia
        Chromosome 5Q14.3 deletion syndrome, distal

Recent clinical studies

Diagnosis

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA
Am J Med Genet A 2011 Jul;155A(7):1640-5. Epub 2011 May 27 doi: 10.1002/ajmg.a.34059. PMID: 21626678

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Prognosis

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Balta B, Erdogan M, Ergul AB, Sahin Y, Ozcan A
Am J Med Genet A 2017 Oct;173(10):2798-2802. Epub 2017 Aug 16 doi: 10.1002/ajmg.a.38386. PMID: 28815864

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Chromosome 5Q14.3 deletion syndrome, distal(PVNH5)

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

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