Details of Disease

General Information of Disease (ID: DIS2DYZ3)

Disease Name Alpha-N-acetylgalactosaminidase deficiency type 3
Synonyms NAGA deficiency type 3; Schindler disease type 3
Definition
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
Disease Hierarchy
DISJZCJ4: Alpha-N-acetylgalactosaminidase deficiency
DIS2DYZ3: Alpha-N-acetylgalactosaminidase deficiency type 3
Disease Identifiers
MONDO ID
MONDO_0019264
MESH ID
C536631
UMLS CUI
C5437471
MedGen ID
1772900
Orphanet ID
79281
SNOMED CT ID
880066000

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 Supportive Autosomal recessive [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.