Deutsch
IllnessAlstrom syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Alstrom syndrome
ID
AS0520
Number of genes
1
Accredited laboratory test
Examined sequence length
12,6 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 |
|---|---|---|---|---|
| ALMS1 | 12504 | NM_015120.4 | AR |
Informations about the disease
Clinical Comment
Progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, progressive hepatic + renal dysfunction.
Synonyms
- Alias: Alstrom syndrome, ALMS, ALSS
- Cone-rod dystrophy, sensorineur. hearing loss, obesity, hyperinsulinemia, type 2 diab. mell. (ALMS1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Q87.8
Bioinformatics and clinical interpretation
No text defined