Schindler disease, type I

Preferred Label : Schindler disease, type I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuroaxonal dystrophy, schindler type; Alpha-n-acetylgalactosaminidase deficiency, type I; Naga deficiency, type I;

Included titles and symbols : Alpha-n-acetylgalactosaminidase deficiency, type III; Naga deficiency, type III; Schindler disease, type III;

Description : Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder 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, 104170.0001);

Laboratory abnormalities : Lack of lysosomal inclusions in visceral organs; Increased urinary O-linked sialopeptides; Decreased alpha-N-acetylgalactosaminidase activity (less than 2% of control); Increased urinary oligosaccharides; Decreased alpha-N-acetylgalactosaminidase protein;

Prefixed ID : #609241;

Details

Origin ID

609241;

UMLS CUI

C1836544;

Automatic exact mappings (from CISMeF team)
- schindler disease, type III [MeSH concept]
Currated CISMeF NLP mapping
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) [SNOMED CT concept]
- Schindler disease type 1 [DO Concept]
- schindler disease, type I [MeSH Supplementary Concept]
- schindler disease, type I [MeSH concept]
DO Cross reference
- Schindler disease type 1 [DO Concept]
Genes related to phenotype
- N-acetyl-alpha-D-galactosaminidase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Cortical blindness [HPO term]
- Developmental regression [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Increased urinary O-linked sialopeptides [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Limb contractures by age 4-5 years [HPO term]
- Loss of developmental milestones [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Osteopenia [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 3 [ORDO Disease]
See also inter- (CISMeF)
- Alpha-N-acetylgalactosaminidase deficiency type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency (disorder) [SNOMED CT concept]
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ORDO Disease]
- Alpha-N-acetylgalactosaminidase deficiency type 1 [ICD-11 More detail]
- Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) [SNOMED CT concept]
- schindler disease, type I [MeSH Supplementary Concept]
- schindler disease, type I [MeSH concept]
Validated automatic mappings to NTBT
- Alpha-N-acetylgalactosaminidase deficiency [ORDO Disease]

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