KEGG   DISEASE: Multiple congenital anomalies-hypotonia-seizures syndromeHelp
Entry
H01486                      Disease                                

Name
Multiple congenital anomalies-hypotonia-seizures syndrome
  Supergrp
Inherited glycosylphosphatidylinositol deficiencies [DS:H01489]
Description
The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive disorders whereas PIGA deficiency causes an X-linked lethal disorder. Clinical features are variable dependent on genotypes, often include (neonatal) hypotonia, seizures, various anomalies involving nervous system structural malformations, delayed or lack of psychomotor development, and various congenial organ anomalies.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H01486  Multiple congenital anomalies-hypotonia-seizures syndrome
BRITE hierarchy
Pathway
hsa00563  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Network
nt06018  GPI-anchor biosynthesis
  Element
N00750  PIGT deficiency in GPI-anchor biosynthesis
N00752  PIGN deficiency in GPI-anchor biosynthesis
N00757  PIGA deficiency in GPI-anchor biosynthesis
Gene
(MCAHS 1) PIGN [HSA:23556] [KO:K05285]
(MCAHS 2) PIGA [HSA:5277] [KO:K03857]
(MCAHS 3) PIGT [HSA:51604] [KO:K05292]
Other DBs
ICD-11: 5C54
ICD-10: Q87.8
OMIM: 614080 300868 615398
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
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM
  Title
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
  Journal
Am J Med Genet A 164A:29-35 (2014)
DOI:10.1002/ajmg.a.36184
Reference
  Authors
Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stodberg T, Makitie O, Anderlid BM, Bryceson YT, Nordenskjold M, Nordgren A
  Title
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
  Journal
J Med Genet 50:521-8 (2013)
DOI:10.1136/jmedgenet-2013-101654
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