Basel-Vanagaite-Smirin-Yosef syndrome

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Classification according to ICD-10
Q12.0 Cataracta congenita
ICD-10 online (WHO version 2019)

The Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) is a very rare congenital disease with the main features congenital cataract , microcephaly , fire stain (nevus flammeus simplex) and severe intellectual disorder .

Synonyms are: congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

The name refers to the first authors of the first description from 2015 by the Israeli human geneticist Lina Basel-Vanagaite, Pola Smirin-Yosef and colleagues.

The syndrome should not be confused with the Basel-Vanagaite-Sirota syndrome , the microlissencephaly-micromelia syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in the MED25 - gene on chromosome 19 locus q13.33 based encoding the mediator complex subunit 25th

Clinical manifestations

Clinical criteria are:

  • Onset of illness at birth
  • congenital cataract
  • Microcephaly
  • Fire mark
  • in the course of showing impairment of intelligence

Individual evidence

  1. ↑ a b c Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ L. Basel-Vanagaite, P. Smirin-Yosef, JL Essakow, S. Tzur, I. Lagovsky, I. Maya, M. Pasmanik-Chor, A. Yeheskel, O. Konen, N. Orenstein, M. Weisz Hubshman , V. Drasinover, N. Magal, G. Peretz Amit, Y. Zalzstein, A. Zeharia, M. Shohat, R. Straussberg, D. Monté, M. Salmon-Divon, DM Behar: Homozygous MED25 mutation implicated in eye- intellectual disability syndrome. In: Human genetics. Volume 134, Number 6, June 2015, pp. 577-587, doi: 10.1007 / s00439-015-1541-x , PMID 25792360 .
  3. ↑ Basel-Vanagait-Smirin-Yosef syndrome.  In: Online Mendelian Inheritance in Man . (English).

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