Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Preferred Label : Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;

Symbol : PADMAL;

CISMeF acronym : PADMAL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia, hereditary multi-infarct, swedish type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen, type IV, alpha-1 gene (COL4A1, 120130.0025);

Prefixed ID : #618564;

Details

Origin ID

618564;

UMLS CUI

C5231411;

Currated CISMeF NLP mapping
- Pontine autosomal dominant microangiopathy with leukoencephalopathy [ORDO Disease]
- Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Collagen, type iv, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cognitive impairment [HPO term]
- Dementia [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Postural instability [HPO term]
ORDO concept(s)
- Pontine autosomal dominant microangiopathy with leukoencephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) [SNOMED CT concept]

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