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CARASIL
1 OMIM reference -
1 associated gene
50 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked lymphoproliferative disease
Acrogeria
Ehlers-Danlos syndrome, vascular type
Familial abdominal aortic aneurysm
Familial cerebral saccular aneurysm
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Caffey disease
Czech dysplasia, metatarsal type
Dermatofibrosarcoma protuberans
Dysspondyloenchondromatosis
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial avascular necrosis of femoral head
High bone mass osteogenesis imperfecta
Hyperlipidemia type 3
Hypochondrogenesis
Kniest dysplasia
Leber congenital amaurosis
Legg-Calvé-Perthes disease
Lipoprotein glomerulopathy
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Retinitis pigmentosa
Sea-blue histiocytosis
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
14q22q23 microdeletion syndrome
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type C
Fibular aplasia - complex brachydactyly
Microphthalmia with brain and digit anomalies
Multiple synostoses syndrome
Proximal symphalangism
Synonym(s):
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- Maeda syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HTRA1 Q92743602194
No signs/symptoms info available.