Details of Disease

General Information of Disease (ID: DISPCAUH)

Disease Name Mucopolysaccharidosis type 4B
Synonyms
mucopolysaccharidosis, type IVB; mucopolysaccharidosis, type 4B; MPS IVB; Morquio syndrome B; Beta-D-galactosidase deficiency; mucopolysaccharidosis type IVB; MPS IV B; mucopolysaccharidosis type IVB (Morquio); MPSIVB; Morquio disease type B; MPS 4B; MPS4B
Definition A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
Disease Hierarchy
DIS2Y2P2: Morquio syndrome
DISZHA63: Lysosomal storage disease with skeletal involvement
DISB083T: Mucopolysaccharidosis
DISPCAUH: Mucopolysaccharidosis type 4B
Disease Identifiers
MONDO ID
MONDO_0009660
MESH ID
D009085
UMLS CUI
C0086652
OMIM ID
253010
MedGen ID
43376
Orphanet ID
309310
SNOMED CT ID
238044004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GLB1 TTNGJPH Strong CausalMutation [1]
GLB1 TTNGJPH Definitive Autosomal recessive [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMPPE OT0FTJKK Limited CausalMutation [1]
GLB1 OTB0TKAG Definitive Autosomal recessive [2]
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References

1 Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.Am J Med Genet A. 2018 Jan;176(1):230-234. doi: 10.1002/ajmg.a.38549. Epub 2017 Nov 21.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.