Brain small vessel disease 1 with or without ocular anomalies

Preferred Label : Brain small vessel disease 1 with or without ocular anomalies;

Symbol : BSVD1;

CISMeF acronym : ADT1P; POREN1; T1P; BSVD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : T1P; ADT1P; Porencephaly, type 1, autosomal dominant; Brain small vessel disease with hemorrhage; POREN1; Retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant; Brain small vessel disease with axenfeld-rieger anomaly; Porencephaly, type 1; Porencephaly 1; Leukoencephalopathy with axenfeld-rieger anomaly; Hemiplegia, infantile, with porencephaly; Gould syndrome 1;

Description : Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Suhead Genetic Heterogeneity of Porencephaly See also POREN2 (614483), caused by mutation in the COL4A2 gene (120090).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-1 gene (COL4A1, 120130.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #175780;

Details

Origin ID

175780;

UMLS CUI

C4551998;

Automatic exact mappings (from CISMeF team)
- Acquired porencephaly (disorder) [SNOMED CT concept]
- Congenital cerebral cysts [ICD-10 Sub-category (who)]
- Porencephalia [PASCAL descriptor]
- Porencephalia [MedDRA LLT]
- Porencephalus [MedDRA LLT]
- Porencephaly [ICD-11 Sub-sub category]
- acquired porencephaly [SNOMED Notion]
Currated CISMeF NLP mapping
- COL4A1-related familial vascular leukoencephalopathy [ORDO Disease]
- Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) [SNOMED CT concept]
- Porencephalic cyst [HPO term]
- Porencephaly [MeSH Descriptor]
- Porencephaly [MeSH concept]
- Porencephaly [ORDO Disease]
- Porencephaly [HRDO Sign]
- Porencephaly [MedDRA Preferred Term]
- brain small vessel disease 1 [DO Concept]
- porencephaly [Radlex concept]
- porencephaly [Disease (Nov.)]
- porencephaly [DO Concept]
DO Cross reference
- brain small vessel disease 1 [DO Concept]
Genes related to phenotype
- Collagen, type iv, alpha-1 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Blurred vision [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral hemorrhage [HPO term]
- Corneal neovascularization [HPO term]
- Corneal opacity [HPO term]
- Cortical dysplasia [HPO term]
- Developmental cataract [HPO term]
- Ectopia pupillae [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exotropia [HPO term]
- Facial paralysis [HPO term]
- Focal cortical dysplasia [HPO term]
- Glaucoma [HPO term]
- Hemiparesis [HPO term]
- Hemiplegia [HPO term]
- Hemolytic anemia [HPO term]
- Hydrocephalus [HPO term]
- Hypermetropia [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypoplasia of the iris [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Ischemic stroke [HPO term]
- Leukoencephalopathy [HPO term]
- Limb dystonia [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Migraine [HPO term]
- Myopia [HPO term]
- Peripapillary atrophy [HPO term]
- Polycoria [HPO term]
- Porencephalic cyst [HPO term]
- Reduced visual acuity [HPO term]
- Retinal arteriolar tortuosity [HPO term]
- Schizencephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tetraparesis [HPO term]
- Variable expressivity [HPO term]
- Visual field defect [HPO term]
ORDO concept(s)
- COL4A1-related familial vascular leukoencephalopathy [ORDO Disease]
- Familial porencephaly [ORDO Disease]
- Porencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial porencephaly [ORDO Disease]

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