Details of Disease

General Information of Disease (ID: DISEVTNF)

Disease Name Alpha-N-acetylgalactosaminidase deficiency type 2
Synonyms
Alpha-N-acetylgalactosaminidase deficiency, adult-onset; Alpha-N-acetylgalactosaminidase deficiency, type 2; KANZAKI disease; Schindler disease, type 2; Naga deficiency, type 2; Alpha-N-acetylgalactosaminidase deficiency adult onset; adult-onset Alpha-N-acetylgalactosaminidase deficiency; Kanzaki disease; Schindler disease type 2; NAGA deficiency type 2
Definition Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.
Disease Hierarchy
DISJZCJ4: Alpha-N-acetylgalactosaminidase deficiency
DISEVTNF: Alpha-N-acetylgalactosaminidase deficiency type 2
Disease Identifiers
MONDO ID
MONDO_0012222
MESH ID
C536631
UMLS CUI
C1836522
OMIM ID
609242
MedGen ID
324539
Orphanet ID
79280
SNOMED CT ID
880065001

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 Definitive Autosomal recessive [1]
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References

1 Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet. 1996 Jun;33(6):458-64. doi: 10.1136/jmg.33.6.458.