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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 101 - 125 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0080502
  • GM1 gangliosidosis type 1
Homo sapiens (human)
DOID:12803
  • Sly syndrome
  • Aliases:
    • MPS VII - Sly syndrome
    • beta-glucuronidase deficiency
    • deficiency of beta-glucuronidase
    • mucopolysaccharidosis VII
Homo sapiens (human)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Homo sapiens (human)
DOID:12804
  • mucopolysaccharidosis IV
  • Aliases:
    • Mucopolysaccharidosis, MPS-IV
    • deficiency of N-acetylgalactosamine-6-sulphatase
    • deficiency of chondroitinsulphatase
    • galactosamine-6-sulfatase deficiency
Homo sapiens (human)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Homo sapiens (human)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Homo sapiens (human)
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Homo sapiens (human)
DOID:0111402
  • mucopolysaccharidosis type IIID
  • Aliases:
    • GNS deficiency
    • MPS IIID
    • MPS3D
    • Mucopolysaccharidosis type 3D
    • N-acetylglucosamine-6-sulfatase deficiency
    • Sanfilippo syndrome D
    • Sanfilippo syndrome type D
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:0111393
  • mucopolysaccharidosis type IIIC
  • Aliases:
    • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Sanfilippo syndrome type C
    • mucopolysaccharidosis type IIIC (Sanfilippo C)
Homo sapiens (human)
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Homo sapiens (human)
DOID:12799
  • mucopolysaccharidosis II
  • Aliases:
    • Hunter syndrome
    • Hunter's syndrome
    • MPS II - Hunter syndrome
    • Mucopolysaccharidosis, MPS-II
    • deficiency of iduronate-2-sulphatase
Homo sapiens (human)
DOID:0060222
  • Scheie syndrome
  • Aliases:
    • mucopolysaccharidosis type 1S
    • mucopolysaccharidosis type IS
    • mucopolysaccharidosis type V
Homo sapiens (human)
DOID:12802
  • mucopolysaccharidosis I
  • Aliases:
    • Hurler syndrome
    • Hurler-Scheie syndrome
    • Lipochondrodystrophy
    • MPS I - Hurler syndrome
    • Mucopolysaccharidosis, MPS-I
    • Mucopolysaccharidosis, type 1
    • iduronidase deficiency disease
Homo sapiens (human)
DOID:0111390
  • mucopolysaccharidosis Ih
  • Aliases:
    • Dysostosis multiplex syndrome
    • Hurler disease MPS type 1H
    • Hurler-Pfaundler syndrome
    • L-iduronidase deficiency, Hurler type
    • MPS1-H
    • Mucopolysaccharidosis type I severe form
    • dysostosis multiplex
    • gargoylism
Homo sapiens (human)
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Homo sapiens (human)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:0080070
  • mucolipidosis II alpha/beta
  • Aliases:
    • I-cell disease
    • inclusion-cell disease
    • mucolipidosis II
Homo sapiens (human)
DOID:0080540
  • galactosialidosis
Homo sapiens (human)
DOID:0112319
  • Kanzaki disease
  • Aliases:
    • NAGA deficiency type 2
    • adult-onset alpha-N-acetylgalactosaminidase deficiency
    • alpha-N-acetylgalactosaminidase deficiency type 2
Homo sapiens (human)
DOID:0112318
  • Schindler disease type 1
  • Aliases:
    • NAGA deficiency type 1
    • alpha-N-acetylgalactosaminidase deficiency type 1
Homo sapiens (human)
DOID:3343
  • glycoproteinosis
  • Aliases:
    • Mucolipidosis type I
    • sialidosis
Homo sapiens (human)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Homo sapiens (human)
DOID:3413
  • alpha-mannosidosis
  • Aliases:
    • Alpha-D-mannosidosis
    • alpha-mannosidase deficiency
    • deficiency of alpha-mannosidase
Homo sapiens (human)
DOID:14500
  • fucosidosis
  • Aliases:
    • A-fucosidase deficiency
    • alpha fucosidase deficiency
Homo sapiens (human)
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Last updated: December 9, 2024