Mucopolysaccharidosis, type iva

Preferred Label : Mucopolysaccharidosis, type iva;

Symbol : MPS4A;

CISMeF acronym : MPS4A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Galns deficiency; Mps iva; Morquio syndrome a; Morquio a disease; Galactosamine-6-sulfatase deficiency;

Description : Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008). McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., 183900) and multiple epiphyseal dysplasia (see, e.g., 132400). Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the galactosamine-6-sulfatase gene (GALNS, 612222.0001).;

Laboratory abnormalities : N-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes; Keratan sulfate excretion in urine that decreases with age; Chondroitin 6-sulfate excretion in urine;

Prefixed ID : #253000;

Details

Origin ID

253000;

UMLS CUI

C0086651;

Automatic exact mappings (from CISMeF team)
- Morquio Syndrome [NCIt concept]
- Morquio disease [PASCAL descriptor]
- Morquio disease [MedDRA LLT]
- Morquio syndrome [Radlex concept]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- galactosamine (N-acetyl)-6-sulfatase [ORDO Gene]
- galactosamine (N-acetyl)-6-sulfatase [HGNC gene]
- mucopolysaccharidosis IV [MeSH Descriptor]
- mucopolysaccharidosis IV [DO Concept]
Broader ORDO disease(s)
- Mucopolysaccharidosis type 4 [ORDO Disease]
Currated CISMeF NLP mapping
- GALNS deficiency [MeSH concept]
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IVA [NCIt concept]
- Mucopolysaccharidosis type 4A [ICD-11 More detail]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- mucopolysaccharidosis IVA [DO Concept]
- mucopolysaccharidosis type IV A [MeSH concept]
- mucopolysaccharidosis type IVa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-a [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis IVA [DO Concept]
Genes related to phenotype
- Galactosamine-6-sulfate sulfatase [OMIM gene]
HPO term(s)
- Abnormal heart valve morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Cervical myelopathy [HPO term]
- Cervical subluxation [HPO term]
- Chondroitin sulfate excretion in urine [HPO term]
- Coarse facial features [HPO term]
- Constricted iliac wing [HPO term]
- Corneal opacity [HPO term]
- Coxa valga [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]
- Joint laxity [HPO term]
- Juvenile onset [HPO term]
- Keratan sulfate excretion in urine [HPO term]
- Kyphosis [HPO term]
- Large elbow [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 4A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of N-acetylgalactosamine-6-sulfatase (finding) [SNOMED CT concept]
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IVA [NCIt concept]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- Mucopolysaccharidosis type 4A [ICD-11 More detail]
- mucopolysaccharidosis IVA [DO Concept]
- mucopolysaccharidosis type IV A [MeSH concept]
- mucopolysaccharidosis type IVa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iv-a [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 4 [ORDO Disease]
- Mucopolysaccharidosis type 4 [ICD-11 Sub-sub category]
- mucopolysaccharidosis IV [MeSH Descriptor]

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