Mucopolysaccharidosis, type II

Preferred Label : Mucopolysaccharidosis, type II;

Symbol : MPS2;

CISMeF acronym : MPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hunter syndrome; Mps II; Iduronate 2-sulfatase deficiency; Ids deficiency; Sulfoiduronate sulfatase deficiency; Sids deficiency;

Description : Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the iduronate-2-sulfatase gene (IDS, 309900.0001);

Laboratory abnormalities : Iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells; Dermatan and heparan sulfate excretion in urine;

Prefixed ID : #309900;

Details

Origin ID

309900;

UMLS CUI

C0026705;

Automatic exact mappings (from CISMeF team)
- IDS wt Allele [NCIt concept]
- iduronate 2-sulfatase [ORDO Gene]
- iduronate 2-sulfatase [HGNC gene]
- mucopolysaccharidosis I [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hunter Syndrome [NCIt concept]
- Hunter syndrome [PASCAL descriptor]
- Hunter syndrome [Disease (Nov.)]
- Hunter's syndrome [MedDRA LLT]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
- Mucopolysaccharidosis type 2 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 2 [ORDO Disease]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category (who)]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]
- sulfoiduronate sulfatase deficiency [MeSH concept]
DO Cross reference
- mucopolysaccharidosis II [DO Concept]
Genes related to phenotype
- Iduronate 2-sulfatase [OMIM gene]
HPO term(s)
- Abnormal heart valve morphology [HPO term]
- Abnormality of retinal pigmentation [HPO term]
- Airway obstruction [HPO term]
- Asthma [HPO term]
- Cervical cord compression [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Congestive heart failure [HPO term]
- Corneal opacity [HPO term]
- Delayed eruption of teeth [HPO term]
- Dermatan sulfate excretion in urine [HPO term]
- Diarrhea [HPO term]
- Dolichocephaly [HPO term]
- Dysostosis multiplex [HPO term]
- Flexion contracture [HPO term]
- Full lips [HPO term]
- Hearing impairment [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hoarse voice [HPO term]
- Hydrocephalus [HPO term]
- Hypertrichosis [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, profound [HPO term]
- Intestinal pseudo-obstruction [HPO term]
- Juvenile onset [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Mild short stature [HPO term]
- Mild spondylorhizomelic dwarfism [HPO term]
- Neurodegeneration [HPO term]
- Obstructive sleep apnea [HPO term]
- Papilledema [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Scaphocephaly [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sleep apnea [HPO term]
- Splenomegaly [HPO term]
- Split hand [HPO term]
- Thick lower lip vermilion [HPO term]
- Tracheobronchomalacia [HPO term]
- Umbilical hernia [HPO term]
- Urinary glycosaminoglycan excretion [HPO term]
- Widely spaced teeth [HPO term]
- X-linked recessive inheritance [HPO term]
- Young adult onset [HPO term]
NCIt concept(s)
- IDS Gene [NCIt concept]
- IDS wt Allele [NCIt concept]
- Iduronate 2-Sulfatase [NCIt concept]
Narrower ORDO disease(s)
- Mucopolysaccharidosis type 2, attenuated form [ORDO Disease]
- Mucopolysaccharidosis type 2, severe form [ORDO Disease]
Not associated HPO term(s)
- Opacification of the corneal stroma [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 2 [ORDO Disease]
- Mucopolysaccharidosis type 2, attenuated form [ORDO Disease]
- Mucopolysaccharidosis type 2, severe form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hunter Syndrome [NCIt concept]
- Hunter syndrome [PASCAL descriptor]
- Hunter syndrome [Disease (Nov.)]
- Hunter's syndrome [MedDRA LLT]
- Mucopolysaccharidosis II [MedDRA Preferred Term]
- Mucopolysaccharidosis type 2 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 2 [ORDO Disease]
- Mucopolysaccharidosis type II (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category]
- Mucopolysaccharidosis, type II [ICD-10 Sub-category (who)]
- deficiency of iduronate-2-sulfatase [SNOMED Notion]
- mucopolysaccharidosis II [MeSH concept]
- mucopolysaccharidosis II [DO Concept]
- mucopolysaccharidosis ii [MeSH Descriptor]
- mucopolysaccharidosis, mps-ii [SNOMED Notion]

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