KEGG   DISEASE: Hyperphosphatasia with mental retardation syndromeHelp
Entry
H01488                      Disease                                

Name
Hyperphosphatasia with mental retardation syndrome;
Mabry syndrome
  Supergrp
Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
Syndromic autosomal recessive mental retardation [DS:H01911]
Description
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01488  Hyperphosphatasia with mental retardation syndrome
BRITE hierarchy
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Network
nt06018  GPI-anchor biosynthesis
  Element
N00751  PIGO deficiency in GPI-anchor biosynthesis
N00753  PIGV deficiency in GPI-anchor biosynthesis
N00755  PIGW deficiency in GPI-anchor biosynthesis
N00758  PIGY deficiency in GPI-anchor biosynthesis
Gene
(HPMRS1) PIGV [HSA:55650] [KO:K07542]
(HPMRS2) PIGO [HSA:84720] [KO:K05288]
(HPMRS3) PGAP2 [HSA:27315] [KO:K23552]
(HPMRS4) PGAP3 [HSA:93210] [KO:K23553]
(HPMRS5) PIGW [HSA:284098] [KO:K05283]
(HPMRS6) PIGY [HSA:84992] [KO:K11001]
Other DBs
OMIM: 239300 614749 614207 615716 616025 616809
Reference
  Authors
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Ploski R, Krajewska-Walasek M, Pronicka E
  Title
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and  PGAP2 genes.
  Journal
Eur J Paediatr Neurol 20:462-73 (2016)
DOI:10.1016/j.ejpn.2016.01.007
Reference
  Authors
Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P
  Title
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
  Journal
Am J Med Genet A 155A:1917-22 (2011)
DOI:10.1002/ajmg.a.34102
Reference
  Authors
Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D
  Title
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
  Journal
Am J Hum Genet 91:146-51 (2012)
DOI:10.1016/j.ajhg.2012.05.004
Reference
  Authors
Krawitz PM, Murakami Y, Riess A, Hietala M, Kruger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D
  Title
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
  Journal
Am J Hum Genet 92:584-9 (2013)
DOI:10.1016/j.ajhg.2013.03.011
Reference
  Authors
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM
  Title
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
  Journal
Am J Hum Genet 94:278-87 (2014)
DOI:10.1016/j.ajhg.2013.12.012
Reference
  Authors
Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y
  Title
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.
  Journal
J Med Genet 51:203-7 (2014)
DOI:10.1136/jmedgenet-2013-102156
Reference
  Authors
Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF
  Title
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
  Journal
Hum Mol Genet 24:6146-59 (2015)
DOI:10.1093/hmg/ddv331
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