Recessive hereditary small-vessel disease with alopecia and spondylosis.
- Specialty
- Neurology
- Subspecialty
- Neurology / Vascular neurology; Neurogenetics
- Sex & age distribution
- Male: affected; Female: affected equally; Children: no, onset in 20s–30s
- Gene(s) involved
- HTRA1
- Alternative names & eponyms
- Maeda syndrome
Etiology & mechanism
Loss of HTRA1.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with CARASIL may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
1 shared
Autoimmune polyglandular syndrome type 1
alopecia
1 shared
Cronkhite–Canada syndrome
alopecia
1 shared
Dopa-responsive dystonia
gait disturbance
1 shared
Fragile X-associated tremor/ataxia syndrome
cognitive decline
1 shared
Hereditary spastic paraplegia type 15
cognitive decline
1 shared
Huntington disease phenocopy syndrome
cognitive decline
1 shared
Hutchinson–Gilford progeria syndrome
alopecia
1 shared
KID syndrome
alopecia
1 shared
MELAS syndrome
cognitive decline
1 shared
Mucopolysaccharidosis type I with neurological involvement
cognitive decline
Shares genes with
None.
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