Kanzaki disease

Preferred Label : Kanzaki disease;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Schindler disease, type II; Alpha-n-acetylgalactosaminidase deficiency, type II; Alpha-n-acetylgalactosaminidase deficiency, adult-onset; Naga deficiency, type II;

Description : Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder with atypical features. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy (609241); type II, also known as Kanzaki disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder (see 609241) with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-N-acetylgalactosaminidase gene (NAGA, 104170.0002);

Laboratory abnormalities : Decreased or absent alpha-N-acetylgalactosaminidase activity; Increased urinary O-linked sialopeptides; Diverse tissue cell types (vascular endothelial cells, adipocytes, Schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material; Glycoamino aciduria; Decreased or absent alpha-N-acetylgalactosaminidase protein;

Prefixed ID : #609242;

Details

Origin ID

609242;

UMLS CUI

C1836522;

Automatic exact mappings (from CISMeF team)
- schindler disease, type I [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
- schindler disease, type II [MeSH concept]
DO Cross reference
- Kanzaki disease [DO Concept]
Genes related to phenotype
- N-acetyl-alpha-D-galactosaminidase [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Adult onset [HPO term]
- Aminoaciduria [HPO term]
- Angiokeratoma corporis diffusum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Axonal peripheral neuropathy [HPO term]
- Cerebral atrophy [HPO term]
- Coarse facial features [HPO term]
- Cognitive impairment [HPO term]
- Depressed nasal bridge [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Distal sensory impairment of all modalities [HPO term]
- Dry skin [HPO term]
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- Hyperkeratosis [HPO term]
- Increased urinary O-linked sialopeptides [HPO term]
- Intellectual disability, mild [HPO term]
- Lip telangiectasia [HPO term]
- Lymphedema [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Telangiectasia of the oral mucosa [HPO term]
- Thick lower lip vermilion [HPO term]
- Vertigo [HPO term]
- White mater abnormalities in the posterior periventricular region [HPO term]
ORDO concept(s)
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 2 [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) [SNOMED CT concept]
- schindler disease, type II [MeSH concept]
Validated automatic mappings to NTBT
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]

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