Deutsch
IllnessArts syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Arts syndrome
ID
AS0980
Number of genes
1
Accredited laboratory test
Examined sequence length
1,0 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 | Heredity |
|---|---|---|---|
| PRPS1 | 957 | XLR |
Informations about the disease
Clinical Comment
Intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, loss of vision - optic atrophy
Synonyms
- Alias: Ataxia, fatal XL, deafness, loss of vision
- Alias: Lethal ataxia with deafness + optic atrophy
- Alias: Mental retardation, XL, syndromic 18 (PRPS1)
- Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
- Allelic: Deafness, XL 1 (PRPS1)
- Allelic: Gout, PRPS-related (PRPS1)
- Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
Heredity, heredity patterns etc.
- XLR
OMIM-Ps
ICD10 Code
E79.8
Bioinformatics and clinical interpretation
No text defined