Deutsch
IllnessMorbus Schindler
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Morbus Schindler
ID
MS9812
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| NAGA | 1236 | NM_000262.3 | AR |
Informations about the disease
Clinical Comment
Extreme variability, 3 clinical subtypes: Type 1 infantile-onset neuroaxonal dystrophy, type 2 adult patients with angiokeratoma corporis diffusum, minimal involvement nervous system, type 3 intermediate with intellectual impairment, neurological dysfunction, seizures/milder neurological + psychiatric issues, speech + language delays, mild autism-like symptoms
Synonyms
- Alias: Alpha-N-acetylgalactosaminidase deficiency (NAGA)
- Alias: NAGA deficiency (NAGA)
- Alias: Neuroaxonal dystrophy, Schindler type (NAGA)
- Schindler disease, type I + III (NAGA)
- Schindler disease, type II; Kanzaki disease (NAGA)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
E88.8
Bioinformatics and clinical interpretation
No text defined