KEGG   DISEASE: Homocystinuria
Entry
H00183                      Disease                                
Name
Homocystinuria
  Subgroup
Methylcobalamin deficiency type G [DS:H01285]
Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)
Homocystinuria-megaloblastic anemia cblD type (HMAD)
Description
Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00183  Homocystinuria
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06030  Methionine metabolism
   H00183  Homocystinuria
 Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H00183  Homocystinuria
Pathway
hsa00270  Cysteine and methionine metabolism
hsa00670  One carbon pool by folate
Network
nt06030 Methionine metabolism
nt06538 Cobalamin transport and metabolism
Gene
CBS [HSA:875] [KO:K01697]
MTHFR [HSA:4524] [KO:K25004]
(HMAE) MTRR [HSA:4552] [KO:K00597]
(HMAG) MTR [HSA:4548] [KO:K00548]
(HMAD) MMADHC [HSA:27249] [KO:K26006]
Drug
Betaine [DR:D07523]
Other DBs
ICD-11: 5C50.B
MeSH: D006712
OMIM: 236200 236250 236270 250940 620952
Reference
PMID:10338090
  Authors
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M
  Title
Cystathionine beta-synthase mutations in homocystinuria.
  Journal
Hum Mutat 13:362-75 (1999)
DOI:10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K
Reference
PMID:14739681 (CBS)
  Authors
Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V
  Title
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
  Journal
J Inherit Metab Dis 26:761-73 (2003)
DOI:10.1023/B:BOLI.0000009963.88420.c2
Reference
PMID:9781030 (MTHFR)
  Authors
Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ
  Title
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
  Journal
Eur J Hum Genet 6:257-65 (1998)
DOI:10.1038/sj.ejhg.5200182
Reference
PMID:23430521 (MTRR)
  Authors
Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusi V, Sunol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R
  Title
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.
  Journal
JIMD Rep 8:57-62 (2013)
DOI:10.1007/8904_2012_161
Reference
PMID:12068375 (MTR)
  Authors
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS
  Title
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
  Journal
Am J Hum Genet 71:143-53 (2002)
DOI:10.1086/341354
Reference
PMID:22156578 (MMADHC)
  Authors
Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR
  Title
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
  Journal
Hum Mol Genet 21:1410-8 (2012)
DOI:10.1093/hmg/ddr579
LinkDB

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KEGG   DISEASE: Neural tube defects, folate-sensitive
Entry
H00262                      Disease                                
Name
Neural tube defects, folate-sensitive
  Subgroup
Spina bifida, folate-sensitive
  Supergrp
Neural tube defects [DS:H02563]
Description
Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status is a significant determinant of NTD risk. The genetic studies have shown the relationships of folate-related genes. Maternal supplementation with folic acid is the most effective measure known to prevent NTDs.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA02  Spina bifida
     H00262  Neural tube defects, folate-sensitive
Pathway-based classification of diseases [BR:br08402]
 Cofactor/vitamin metabolism
  nt06038  Folate metabolism
   H00262  Neural tube defects, folate-sensitive
  nt06538  Cobalamin transport and metabolism
   H00262  Neural tube defects, folate-sensitive
Pathway
hsa00670  One carbon pool by folate
Network
nt06038 Folate metabolism
nt06538 Cobalamin transport and metabolism
Gene
MTHFR [HSA:4524] [KO:K25004]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
Other DBs
ICD-11: LA02
MeSH: D016135
OMIM: 601634
Reference
PMID:17963270
  Authors
Beaudin AE, Stover PJ
  Title
Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression.
  Journal
Birth Defects Res C Embryo Today 81:183-203 (2007)
DOI:10.1002/bdrc.20100
Reference
PMID:19120526 (MTHFR)
  Authors
Kondo A, Kamihira O, Ozawa H
  Title
Neural tube defects: prevalence, etiology and prevention.
  Journal
Int J Urol 16:49-57 (2009)
DOI:10.1111/j.1442-2042.2008.02163.x
Reference
PMID:12375236 (MTR, MTRR)
  Authors
Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE
  Title
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.
  Journal
Am J Hum Genet 71:1222-6 (2002)
DOI:10.1086/344209
Reference
PMID:16315005 (MTHFD1)
  Authors
De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V
  Title
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
  Journal
J Hum Genet 51:98-103 (2006)
DOI:10.1007/s10038-005-0329-6
LinkDB

» Japanese version

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