Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy (CARASIL)

Alias:
Carasil Syndrome
Maeda Syndrome
Carasil
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Subcortical Vascular Encephalopathy, Progressive
Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago Without Arterial Hypertension
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopat
Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease
Cerebrovascular Disease with Thin Skin, Alopecia, and Disk Disease
Progressive Subcortical Vascular Encephalopathy
Nemoto Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy, also known as carasil syndrome, is related to crasil syndrome and htra1 disorder, and has symptoms including ataxia, low back pain and muscle rigidity. An important gene associated with Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy is HTRA1 (HtrA Serine Peptidase 1). Affiliated tissues include skin and brain, and related phenotypes are spasticity and gait disturbance
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adolescent
--
1
13
16

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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