Mabry syndrome

Classification according to ICD-10
e83.38	Disorders of phosphorus metabolism and phosphatase, unspecified
ICD-10 online (WHO version 2019)

The Mabry Syndrome is a rare congenital disease with a combination of Hyperphosphatasie and intellectual disabilities .

Synonyms are: hyperphosphatasia-intellectual disability syndrome; English Hyperphosphatasia With Mental Retardation Syndrome; HPMRS

The name refers to the first authors of the first description from 1970 by the American doctor Charlton Mabry and colleagues.

distribution

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

root cause

Depending on the underlying mutation , the following types can be distinguished:

Type 1 with mutations in PIGV - gene to chromosome 1 locus p26.11, which in the biosynthesis of glycosylphosphatidylinositol involved
Type 2 with mutations in the PIGO gene on chromosome 9 locus p13.3
Type 3 with mutations in the PGAP2 gene on chromosome 11 locus p15.4
Type 4 with mutations in the PGAP3 gene on chromosome 17 locus q12
Type 5 with mutations in the PIGW gene on chromosome 17 locus q12
Type 6 with mutations in the PIGY gene on chromosome 4 locus q22.q

Clinical manifestations

Clinical criteria are:

Hyperphosphatasia
Mental disability
neurological abnormalities such as epilepsy , muscle hypotension
Facial dysmorphism with hypertelorism , a wide bridge of the nose and a rectangular face
Brachytelephalangia in various forms

literature

J. Xue, H. Li, Y. Zhang, Z. Yang: Clinical and genetic analysis of two Chinese infants with Mabry syndrome. In: Brain & development. Vol. 38, No. 9, October 2016, pp. 807-818, doi: 10.1016 / j.braindev.2016.04.008 , PMID 27177984 .
DE Cole, MD Thompson: Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome. In: Sub-cellular biochemistry. Vol. 76, 2015, pp. 343-361, doi : 10.1007 / 978-94-017-7197-9_16 , PMID 26219719 (review).
Y. Murakami, N. Kanzawa, K. Saito, PM Krawitz, S. Mundlos, PN Robinson, A. Karadimitris, Y. Maeda, T. Kinoshita: Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. In: The Journal of biological chemistry. Vol. 287, No. 9, February 2012, pp. 6318-6325, doi: 10.1074 / jbc.M111.331090 , PMID 22228761 , PMC 3307314 (free full text).

Individual evidence

↑ ^a ^b hyperphosphatasia-intellectual disability syndrome. In: Orphanet (Rare Disease Database).
↑ CC Mabry, A. Bautista, RF Kirk, LD Dubilier, H. Braunstein, JA Koepke: Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. In: The Journal of pediatrics. Vol. 77, No. 1, July 1970, pp. 74-85, PMID 5465362 .
↑ University of Kentucky, undated: Retired Pediatrician UK passport the Torch to Geneticists. Retrieved August 27, 2018
^ Hyperphosphatasia with mental retardation syndrome 1. In: Online Mendelian Inheritance in Man . (English)
^ Hyperphosphatasia with mental retardation syndrome 2. In: Online Mendelian Inheritance in Man . (English)
↑ Hyperphosphatasia with mental retardation syndrome 3. In: Online Mendelian Inheritance in Man . (English)
^ Hyperphosphatasia with mental retardation syndrome 4. In: Online Mendelian Inheritance in Man . (English)
^ Hyperphosphatasia with mental retardation syndrome 5. In: Online Mendelian Inheritance in Man . (English)
^ Hyperphosphatasia with mental retardation syndrome 6. In: Online Mendelian Inheritance in Man . (English)
↑ PM Krawitz, MR Schweiger, C. Rödelsperger et al .: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. In: Nature genetics. Vol. 42, No. 10, October 2010, pp. 827-829, doi: 10.1038 / ng.653 , PMID 20802478 .
↑ D. Horn, P. Krawitz, A. Mannhardt, GC Korenke, P. Meinecke: Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. In: American journal of medical genetics. Part A. Vol. 155A, No. 8, August 2011, pp. 1917-1922, doi: 10.1002 / ajmg.a.34102 , PMID 21739589 .

Web links

Genetics Home Reference

[Orpha-1] hyperphosphatasia-intellectual disability syndrome. In: Orphanet (Rare Disease Database).

[2] CC Mabry, A. Bautista, RF Kirk, LD Dubilier, H. Braunstein, JA Koepke: Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits. In: The Journal of pediatrics. Vol. 77, No. 1, July 1970, pp. 74-85, PMID 5465362 .

[3] University of Kentucky, undated: Retired Pediatrician UK passport the Torch to Geneticists. Retrieved August 27, 2018

[4] Hyperphosphatasia with mental retardation syndrome 1. In: Online Mendelian Inheritance in Man . (English)

[5] Hyperphosphatasia with mental retardation syndrome 2. In: Online Mendelian Inheritance in Man . (English)

[6] Hyperphosphatasia with mental retardation syndrome 3. In: Online Mendelian Inheritance in Man . (English)

[7] Hyperphosphatasia with mental retardation syndrome 4. In: Online Mendelian Inheritance in Man . (English)

[8] Hyperphosphatasia with mental retardation syndrome 5. In: Online Mendelian Inheritance in Man . (English)

[9] Hyperphosphatasia with mental retardation syndrome 6. In: Online Mendelian Inheritance in Man . (English)

[Krawitz-10] PM Krawitz, MR Schweiger, C. Rödelsperger et al .: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. In: Nature genetics. Vol. 42, No. 10, October 2010, pp. 827-829, doi: 10.1038 / ng.653 , PMID 20802478 .

[11] D. Horn, P. Krawitz, A. Mannhardt, GC Korenke, P. Meinecke: Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. In: American journal of medical genetics. Part A. Vol. 155A, No. 8, August 2011, pp. 1917-1922, doi: 10.1002 / ajmg.a.34102 , PMID 21739589 .