MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcongenital nervous system disorder (MONDO:0002320)
Parent Node:
expandeyebrow hypertrophy (MONDO:0020186)
Parent Node:
expandlysosomal storage disease with skeletal involvement (MONDO:0019706)
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expandmetabolic disease with corneal opacity (MONDO:0020279)
Parent Node:
expandmucopolysaccharidosis (MONDO:0019249)
Parent Node:
expandneurometabolic disease (MONDO:0019058)
..Starting node
..expandmucopolysaccharidosis type 1 ()

       Child Nodes:
........expandHurler syndrome ()
........expandHurler-Scheie syndrome ()
........expandScheie syndrome ()



 Sister Nodes: 
..expand2-methylbutyryl-CoA dehydrogenase deficiency ()
..expand3-hydroxyisobutyryl-CoA hydrolase deficiency ()
..expand3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ()  LSDB  L: 00484;
..expandabetalipoproteinemia ()
..expandadult Refsum disease ()
..expandAGAT deficiency ()  LSDB  L: 00444;
..expandalpha-mannosidosis ()
..expandaromatic L-amino acid decarboxylase deficiency ()
..expandaspartylglucosaminuria ()
..expandbeta-ureidopropionase deficiency ()
..expandbiotin-responsive basal ganglia disease ()
..expandCanavan disease ()
..expandcerebrotendinous xanthomatosis ()
..expandchorea-acanthocytosis ()
..expandclassic homocystinuria ()
..expandcombined oxidative phosphorylation defect type 11 ()  LSDB  L: 00423;
..expandcongenital brain dysgenesis due to glutamine synthetase deficiency ()
..expandcongenital cataract-hearing loss-severe developmental delay syndrome ()
..expandcongenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ()
..expandcongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome ()
..expanddopamine beta-hydroxylase deficiency ()
..expandencephalopathy due to GLUT1 deficiency ()
..expandencephalopathy due to hydroxykynureninuria ()
..expandencephalopathy due to prosaposin deficiency ()
..expandfamilial isolated deficiency of vitamin E ()
..expandFarber lipogranulomatosis ()
..expandFriedreich ataxia ()  LSDB  L: 00491;
..expandfumaric aciduria ()
..expandGABA aminotransferase deficiency ()
..expandgalactosialidosis ()
..expandGaucher disease type II ()
..expandGaucher disease type III ()
..expandglutaryl-CoA dehydrogenase deficiency ()
..expandglycine encephalopathy ()  LSDB  L: 00499;
..expandHartnup disease ()
..expandhereditary spastic paraplegia 48 ()
..expandhyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ()  LSDB  L: 00467;
..expandhypermethioninemia due to adenosine kinase deficiency ()
..expandhyperprolinemia type 1 ()
..expandhyperprolinemia type 2 ()
..expandinfantile cerebellar-retinal degeneration ()  LSDB  L: 00108;
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandKrabbe disease ()
..expandlethal encephalopathy due to mitochondrial and peroxisomal fission defect ()  LSDB  L: 00014;
..expandMELAS syndrome ()  LSDB  L: 00163;
..expandMERRF syndrome ()  LSDB  L: 00162;
..expandmethionine adenosyltransferase deficiency ()
..expandmitochondrial DNA depletion syndrome 4a ()  LSDB  L: 00032;
..expandmitochondrial pyruvate carrier deficiency ()  LSDB  L: 00041;
..expandmucopolysaccharidosis type 1 ()
..expandmucosulfatidosis ()
..expandNARP syndrome ()  LSDB  L: 00168;
..expandneurological conditions associated with aminoacylase 1 deficiency ()
..expandNiemann-Pick disease type A ()
..expandoxoglutaricaciduria ()
..expandphenylketonuria ()
..expandprolidase deficiency ()
..expandpyridoxal phosphate-responsive seizures ()
..expandpyridoxine-dependent epilepsy ()
..expandsevere X-linked mitochondrial encephalomyopathy ()  LSDB  L: 00411;
..expandSjogren-Larsson syndrome ()
..expandsuccinic semialdehyde dehydrogenase deficiency ()
..expandTangier disease ()
..expandtriosephosphate isomerase deficiency ()
..expandurocanic aciduria (disease) ()
..expandWilson disease ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1586
Name:mucopolysaccharidosis type 1
Definition:The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
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Synonyms:Alpha-L-iduronidase deficiency; attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome); Hurler syndrome; Hurler syndrome (subtype); Hurler-Scheie syndrome; Hurler-Scheie syndrome (subtype); IDUA deficiency; iduronidase deficiency disease; lipochondrodystrophy; MPS 1; MPS I; MPS I - H
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal