Mucopolysaccharidosis, type ivb

Preferred Label : Mucopolysaccharidosis, type ivb;

Symbol : MPS4B;

CISMeF acronym : MPS4B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Morquio syndrome b; Mps ivb;

Description : Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001). See mucopolysaccharidosis type IVA (253000), also known as Morquio syndroem A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (612222). There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (252300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-galactosidase gene (GLB1, 611458.0009);

Laboratory abnormalities : Beta-galactosidase deficiency in fibroblasts and white blood cells; Keratan sulfate excretion in urine that decreases with age;

Prefixed ID : #253010;

Details

Origin ID

253010;

UMLS CUI

C0086652;

Automatic exact mappings (from CISMeF team)
- GLB1 wt Allele [NCIt concept]
- Morquio Syndrome [NCIt concept]
- mucopolysaccharidosis IV [MeSH Descriptor]
- mucopolysaccharidosis type IVB [DO Concept]
Broader ORDO disease(s)
- Mucopolysaccharidosis type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- Mucopolysaccharidosis Type IVB [NCIt concept]
- Mucopolysaccharidosis type 4B [ICD-11 More detail]
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis type IVB (disorder) [SNOMED CT concept]
- mucopolysaccharidosis type IV B [MeSH concept]
- mucopolysaccharidosis type IVb [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-b [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IVB [DO Concept]
Genes related to phenotype
- Galactosidase, beta-1 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Cervical myelopathy [HPO term]
- Cervical subluxation [HPO term]
- Coarse facial features [HPO term]
- Constricted iliac wing [HPO term]
- Corneal opacity [HPO term]
- Coxa valga [HPO term]
- Decreased beta-galactosidase activity [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Epiphyseal deformities of tubular bones [HPO term]
- Flaring of rib cage [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Genu valgum [HPO term]
- Grayish enamel [HPO term]
- Hearing impairment [HPO term]
- Hepatomegaly [HPO term]
- Hyperlordosis [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Inguinal hernia [HPO term]
- Intimal thickening in the coronary arteries [HPO term]
- Joint laxity [HPO term]
- Juvenile onset [HPO term]
- Keratan sulfate excretion in urine [HPO term]
- Kyphosis [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal widening [HPO term]
- Mild hepatomegaly [HPO term]
- Mildly coarse facies [HPO term]
- Opacification of the corneal stroma [HPO term]
- Osteoporosis [HPO term]
- Ovoid vertebral bodies [HPO term]
- Platyspondyly [HPO term]
- Pointed proximal second through fifth metacarpals [HPO term]
- Prominent sternum [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Short-trunked dwarfism [HPO term]
- Ulnar deviation of the wrist [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 4 [ORDO Disease]
- Mucopolysaccharidosis type 4B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucopolysaccharidosis Type IVB [NCIt concept]
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis type 4B [ICD-11 More detail]
- Mucopolysaccharidosis type IVB (disorder) [SNOMED CT concept]
- mucopolysaccharidosis type IV B [MeSH concept]
- mucopolysaccharidosis type IVB [DO Concept]
- mucopolysaccharidosis type IVb [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-b [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 4 [ORDO Disease]
- mucopolysaccharidosis IV [MeSH Descriptor]

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