Encephalopathy, progressive, with or without lipodystrophy

Preferred Label : Encephalopathy, progressive, with or without lipodystrophy;

Symbol : PELD;

CISMeF acronym : PELD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the seipin gene (BSCL2, 606158.0017);

Laboratory abnormalities : Hypertriglyceridemia (in some patients);

Prefixed ID : #615924;

Details

Origin ID

615924;

UMLS CUI

C4014700;

Currated CISMeF NLP mapping
- Severe neurodegenerative syndrome with lipodystrophy [ORDO Disease]
- Severe neurodegenerative syndrome with lipodystrophy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Bscl2 gene [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Hepatomegaly [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Hypertriglyceridemia [HPO term]
- Loss of speech [HPO term]
- Mental deterioration [HPO term]
- Myoclonus [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Progressive [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tetraparesis [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Severe neurodegenerative syndrome with lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe neurodegenerative syndrome with lipodystrophy [ORDO Disease]

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