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Mucopolysaccharidosis type 2, severe form
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Mucopolysaccharidosis type 2, attenuated form
Berardinelli-Seip congenital lipodystrophy
Synonym(s):
- Hunter syndrome type A
- Iduronate 2-sulfatase deficiency type A
- Mucopolysaccharidosis type 2A
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: young adult
Type of inheritance: x-linked recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
IDS P22304300823
No signs/symptoms info available.