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Mucolipidosis II Alpha Beta

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Mucolipidosis II Alpha Beta: 3
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Metabolic Bone Diseases: 6245
    - Mucolipidoses: 797
      - Mucolipidosis II Alpha Beta: 3
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 797
        Mucolipidosis II Alpha Beta: 3
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Mucolipidoses: 797
        Mucolipidosis II Alpha Beta: 3

Related Diseases

1.	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
2.	Muscle Spasticity (Spastic)
3.	Mucolipidoses (Sialidosis)
4.	Metabolic Diseases (Metabolic Disease)
5.	Leigh Disease (Leigh's Disease)

Experts

1.	Ahsan, Mohammed Nazmul: 1 article (02/2021)
2.	Akter, Hosneara: 1 article (02/2021)
3.	Basiruzzaman, Mohammad: 1 article (02/2021)
4.	Begum, Ghausia: 1 article (02/2021)
5.	Berdeiv, Bakhrom K: 1 article (02/2021)
6.	Dity, Nushrat Jahan: 1 article (02/2021)
7.	Furkan Uddin, K M: 1 article (02/2021)
8.	Hameid, Reem Abdel: 1 article (02/2021)
9.	Hossain, Mohammad Shahnoor: 1 article (02/2021)
10.	Islam, Mazharul: 1 article (02/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucolipidosis II Alpha Beta:

1.	mutalipocin IIIBA 09/01/2013 - "Mucolipidosis II alpha/beta (ML II alpha/beta; I-cell disease) is a rare, inherited, metabolic disease and has often been clinically misdiagnosed. " 02/16/2021 - "We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as DHH-associated 46,XY gonadal dysgenesis (GD) or 46,XY sex reversal 7, GNPTAB-associated mucolipidosis II alpha/beta (ML II), BBS1-associated Bardet-Biedl Syndrome (BBS), SURF1-associated Leigh Syndrome (LS) and AP4B1-associated spastic paraplegia-47 (SPG47) in unrelated affected members from Bangladesh. "
2.	Nonsense Codon (Nonsense Mutation)IBA 09/01/2013 - "Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing."

Therapies and Procedures

1.	Transplantation 05/01/2016 - "Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta."