Gastrointestinal neuromuscular disorders
Gene: IDS
Mucopolysaccharidosis II is a true X-linked recessive lysosomal storage condition. Rare females have been affected due to complete loss of the paternally inherited allele (i.e complete skewed lyonization), but normally carriers do not exhibit clinical symptoms, though they may have enzyme activity levels lower than non-carriers, it is sufficient to prevent disease manifestations.
MPS II is not a neuromuscular disease. Patients have normal muscle strength.
MPSII is not considered a gastrointestinal disease. Although hepatomagaly and hernias could be categorized as gastrointestinal, other than these, GI manifestations are not typical of MPS II.Created: 4 Feb 2022, 11:38 p.m. | Last Modified: 4 Feb 2022, 11:38 p.m.
Panel Version: 1.18
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Elevated urine glycosamino glycans, heparan and dermatan sulphate due to deficient iduronate 2-sulphatase activity; short stature; dysostosis multiplex; wide spaced teeth: kyphosis; hyrdocephalus; hearing loss; sleep apnea; facial coarsening; hernia; macrocephaly, macroglossia, joint stffness; hepatosplenomegaly; airway obstruction; seizures; cardiovascular valve disease; may have normal intelligence or CNS involvement
Publications
Comment on mode of inheritance: PMID: 9375851 reports a girl who was heterozygous for a variant and had the severe form of the disease. Only transcripts for the variant were identified, though she carried one wildtype allele.Created: 19 Oct 2016, 9:14 a.m.
Comment on list classification: Rated green and current diagnostic by reviewer. >10 cases/family reports in OMIM for different variants from several different studies. Confirmed DD gene for Mucopolysaccharidosis II in Gene2Phenotype.Created: 19 Oct 2016, 9:12 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Mode of inheritance for IDS was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
Phenotypes for IDS were set to Mucopolysaccharidosis II 309900
IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
IDS was created by sleigh
IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN