mucopolysaccharidosis type IIIA
Information
- Disease name
- mucopolysaccharidosis type IIIA
- Disease ID
- DOID:0111395
- Description
- "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3." [url:https\://www.ncbi.nlm.nih.gov/pubmed/6796310, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493035]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04201405 | Active, not recruiting | Phase 1/Phase 2 | Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type IIIA | January 7, 2020 | October 30, 2024 |
| NCT02037880 | Completed | Natural History Studies of Mucopolysaccharidosis III | February 2014 | November 2015 | |
| NCT06181136 | Recruiting | Phase 1/Phase 2 | Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) | December 7, 2023 | August 2028 |
| NCT03612869 | Unknown status | Phase 2/Phase 3 | Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) | December 17, 2018 | March 2022 |
- Disase is a (Disease Ontology)
- DOID:12801
- Cross Reference ID (Disease Ontology)
- ICD10CM:E76.22
- Cross Reference ID (Disease Ontology)
- MESH:D009084
- Cross Reference ID (Disease Ontology)
- MIM:252900
- Cross Reference ID (Disease Ontology)
- NCI:C84897
- Cross Reference ID (Disease Ontology)
- ORDO:79269
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254070003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0086647
- Exact Synonym (Disease Ontology)
- heparan sulfamidase deficiency
- Exact Synonym (Disease Ontology)
- MPS3A
- Exact Synonym (Disease Ontology)
- MPSIIIA
- Exact Synonym (Disease Ontology)
- mucopolysaccharidosis III-A
- Exact Synonym (Disease Ontology)
- mucopolysaccharidosis type 3A
- Exact Synonym (Disease Ontology)
- mucopolysaccharidosis type IIIA (Sanfilippo A)
- Exact Synonym (Disease Ontology)
- Sanfilippo syndrome type A