Mucopolysaccharidosis Type Ivb malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Oral diseases, Skin diseases
Aliases & Descriptions for Mucopolysaccharidosis Type Ivb:
Orphanet epidemiological data:53
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases, Neuronal diseases, Oral diseases, Skin diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:69 Mucopolysaccharidosis 4B: A form of mucopolysaccharidosis type 4, 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.
MalaCards based summary: Mucopolysaccharidosis Type Ivb, also known as morquio syndrome b, is related to mucopolysaccharidosis iv and gm1-gangliosidosis, type i, and has symptoms including inguinal hernia, wide mouth and coarse facial features. An important gene associated with Mucopolysaccharidosis Type Ivb is GLB1 (Galactosidase Beta 1). Affiliated tissues include bone, eye and skin.
OMIM:51 Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal... (253010) more...
Diseases in the Mucopolysaccharidosis family:
Diseases related to Mucopolysaccharidosis Type Ivb via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Mucopolysaccharidosis Type Ivb:63 (show all 36)
UMLS symptoms related to Mucopolysaccharidosis Type Ivb:joint laxity, ulnar deviation of the wrist
MalaCards organs/tissues related to Mucopolysaccharidosis Type Ivb:35
Bone, Eye, Skin
Articles related to Mucopolysaccharidosis Type Ivb:
Search GEO for disease gene expression data for Mucopolysaccharidosis Type Ivb.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet