Details of Disease

General Information of Disease (ID: DISG30VZ)

Disease Name Alpha-N-acetylgalactosaminidase deficiency type 1
Synonyms
Schindler disease, type 1; NAGA deficiency, type 1; Schindler disease, type 3; alpha-N-acetylgalactosaminidase deficiency, type 1; Schindler disease type I; neuroaxonal dystrophy, Schindler type; Alpha-N-acetylgalactosaminidase deficiency, type 3; N-acetyl-alpha-D-galactosaminidase deficiency type III; Alpha-N-acetylgalactosaminidase deficiency, type 1; NAGA deficiency, type 3; Schindler disease, type I; Schindler disease type 1; Schindler disease, type III; NAGA deficiency type 1
Definition Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
Disease Hierarchy
DISJZCJ4: Alpha-N-acetylgalactosaminidase deficiency
DISG30VZ: Alpha-N-acetylgalactosaminidase deficiency type 1
Disease Identifiers
MONDO ID
MONDO_0012221
MESH ID
C536631
UMLS CUI
C1836544
OMIM ID
609241
MedGen ID
373113
Orphanet ID
79279
SNOMED CT ID
238048001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NAGA OTNUEUZY Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.