Carasil Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Cardiovascular diseases
Aliases & Descriptions for Carasil Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: adult
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Skin diseases, Cardiovascular diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:67 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers.
MalaCards based summary: Carasil Syndrome, also known as maeda syndrome, is related to bipolar i disorder and hypogonadism, and has symptoms including nystagmus, diffuse white matter abnormalities and diffuse demyelination of the cerebral white matter. An important gene associated with Carasil Syndrome is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin.
Genetics Home Reference:23 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments.
NIH Rare Diseases:45 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as carasil, is an inherited condition that causes stroke and other impairments. this progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. carasil is caused by mutations in the htra1 gene. it is inherited in an autosomal recessive pattern. last updated: 12/21/2011
OMIM:49 Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is a nonhypertensive... (600142) more...
GeneReviews summary for NBK32533
Diseases related to Carasil Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of diseases related to Carasil Syndrome:
HPO human phenotypes related to Carasil Syndrome:(show all 18)
MalaCards organs/tissues related to Carasil Syndrome:33
Articles related to Carasil Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Carasil Syndrome:67
Clinvar genetic disease variations for Carasil Syndrome:5 (show all 11)
Search GEO for disease gene expression data for Carasil Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet