Deutsch
IllnessCARASIL
Summary
Short information
Curated single gene sequence analysis according to clinical suspicion CARASIL
ID
CS0151
Number of genes
1
Accredited laboratory test
Examined sequence length
1,5 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 |
|---|---|---|---|---|
| HTRA1 | 1443 | NM_002775.5 | AD, AR |
Informations about the disease
Clinical Comment
Cerebral small vessel disease, early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid/lower back pain, progr. cognitive disturbances -> severe dementia
Synonyms
- Alias: Cerebral AR arteriopathy-subcortical infacts-leukoencephalopathy
- Alias: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, AR
- Alias: Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2
- Alias: HTRA1 disorder; Cerebrovascular disease with thin skin, alopecia, disc disease
- Alias: Strokes, dementia, cognitive + psychiatric disturbance; Alopecia; Degenerative disc disease
- CARASIL syndrome; Maeda syndrome (HTRA1)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined