Aldred syndrome

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Classification according to ICD-10
H35.5 Hereditary retinal dystrophy
ICD-10 online (WHO version 2019)

The Aldred syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of moderate mental retardation and early onset, severe retinitis pigmentosa .

Synonyms are: mental retardation, X-linked - retinitis pigmentosa; Retinitis pigmentosa and intellectual disability in del (X) (p11.3); Retinitis pigmentosa and intellectual disability due to microdeletion Xp11.3; Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3; Chromosome Xp11.3 deletion syndrome, microdeletion at p11.3

The name refers to the first author of the first description from 1994 by the English human geneticist MA Aldred and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far, affected people from a family of 3 generations have been described. Inheritance is X-linked recessive .

root cause

The disease is based on deletions in the X chromosome at the p11.3 gene location.

Individual evidence

  1. ↑ a b X-linked intellectual disability-retinitis pigmentosa syndrome. In: Orphanet (Rare Disease Database).
  2. ^ MA Aldred, KL Dry, EB Knight-Jones, LJ Hardwick, PW Teague, DH Lester, J. Brown, G. Spowart, AD Carothers, JA Raeburn: Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. In: American Journal of Human Genetics . Vol. 55, No. 5, November 1994, pp. 916-922, PMID 7977353 , PMC 1918325 (free full text).
  3. ↑ Chromosome Xp11.3 deletion syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links