Martsolf syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Martsolf syndrome ( english CATARACT MENTAL RETARDATION-hypogonadism ) is a very rare congenital disease with the main features of cataracts , mental retardation and hypogonadism .

The name refers to the first author of the first description from 1978 by the Canadian pediatrician John T. Martsolf and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far almost 20 patients have been described. Inheritance is autosomal - recessive .

root cause

The disease is based on mutations in the RAB3GAP2 gene at locus 1q41, which codes for the RAB3-GTPase-activating protein.

This gene is also changed in the more severe Warburg micro-syndrome .

Clinical manifestations

Clinical criteria are:

  • cataract
  • Mental retardation
  • Hypogonadism
  • Short stature

In addition, there can be finger malformations, microcephaly , cardiomyopathy , heart defects and slight facial abnormalities.

literature

  • E. Bora, T. Cankaya, A. Alpman, E. Karaca, O. Cogulu, H. Tekgul, F. Ozkinay: A new case of Martsolf syndrome. In: Genetic Counseling. Volume 18, Number 1, 2007, pp. 71-75, PMID 17515302 .

Individual evidence

  1. ↑ a b c Martsolf syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Who named it
  3. ^ JT Martsolf, AG Hunter, JC Haworth: Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers. In: American Journal of Medical Genetics. Vol. 1, No. 3, 1978, pp. 291-299, doi: 10.1002 / ajmg.1320010305 , PMID 677168 .
  4. ^ Martsolf syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ Warburg Micro Syndrome; WARBM.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ MT Handley, DJ Morris-Rosendahl, S. Brown, F. Macdonald, C. Hardy, D. Bem, SM Carpanini, G. Borck, L. Martorell, C. Izzi, F. Faravelli, P. Accorsi, L. Pinelli, L. Basel-Vanagaite, G. Peretz, GM Abdel-Salam, MS Zaki, A. Jansen, D. Mowat, I. Glass, H. Stewart, G. Mancini, D. Lederer, T. Roscioli, F. Giuliano, AS Plomp, A. Rolfs, JM Graham, E. Seemanova, P. Poo, A. García-Cazorla, P. Edery, IJ Jackson, ER Maher, IA Aligianis: Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype -phenotype correlations in warburg micro syndrome and Martsolf syndrome. In: Human mutation. Vol. 34, No. 5, May 2013, pp. 686-696, doi: 10.1002 / humu.22296 , PMID 23420520 .

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