Fatal familial insomnia

Preferred Label : Fatal familial insomnia;

Symbol : FFI;

CISMeF acronym : FFI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Insomnia, fatal familial;

Description : Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with the asp178-to-asn mutation of the PRNP gene (D178N; 176640.0010) when the amino acid at position 129 is methionine (M129V; 176640.0005). The D178N mutation and the val129 allele results in Creutzfeldt-Jacob disease (CJD; 123400) (see 176640.0007) (Goldfarb et al., 1992). CJD typically presents with dementia, ataxia, myoclonus, and other abnormal movements; however, there is considerable clinical and pathologic overlap between FFI and CJD, and some individuals with D178N and met129 may present with a phenotype suggestive of CJD. Thus, FFI and CJD may be viewed as extremes of a phenotypic spectrum (summary by Zarranz et al., 2005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the prion protein gene (PRNP, 176640.0010);

Prefixed ID : #600072;

Details

Origin ID

600072;

UMLS CUI

C0206042;

Automatic exact mappings (from CISMeF team)
- Fatal familial insomnia agent (organism) [SNOMED CT concept]
- prion protein [ORDO Gene]
- prion protein (Kanno blood group) [HGNC gene]
Currated CISMeF NLP mapping
- Fatal Familial Insomnia [NCIt concept]
- Fatal familial insomnia [PASCAL descriptor]
- Fatal familial insomnia [ICD-11 Subcategory]
- Fatal familial insomnia [ICD-9 code]
- Fatal familial insomnia [ORDO Disease]
- Fatal familial insomnia [MedDRA Preferred Term]
- Fatal familial insomnia (disorder) [SNOMED CT concept]
- fatal familial insomnia [DO Concept]
- fatal familial insomnia [SNOMED Notion]
- insomnia, fatal familial [MeSH Descriptor]
- insomnia, fatal familial [MeSH concept]
DO Cross reference
- fatal familial insomnia [DO Concept]
Genes related to phenotype
- Prion protein [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Adult onset [HPO term]
- Apnea [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Constipation [HPO term]
- Dementia [HPO term]
- Diaphoresis [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Fever [HPO term]
- Hyperhidrosis [HPO term]
- Insomnia [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Urinary retention [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Fatal familial insomnia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal Familial Insomnia [NCIt concept]
- Fatal familial insomnia [MedDRA Preferred Term]
- Fatal familial insomnia [ORDO Disease]
- Fatal familial insomnia [ICD-9 code]
- Fatal familial insomnia [PASCAL descriptor]
- Fatal familial insomnia (disorder) [SNOMED CT concept]
- fatal familial insomnia [SNOMED Notion]
- fatal familial insomnia [DO Concept]
- insomnia, fatal familial [MeSH Descriptor]
- insomnia, fatal familial [MeSH concept]

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