Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Fatal familial insomnia

Synonyms
Definitions

A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.

ID

http://www.orpha.net/ORDO/Orphanet_466

definition

A rare inherited human prion disease characterized by adult onset of progressive disturbance and loss of circadian rhythms, dysautonomia with increased sympathetic activity, and cognitive impairment with fluctuating vigilance, impaired long-term memory, disorientation, and oneiric states. Motor disturbances include myoclonus, cerebellar ataxia, and pyramidal signs. The disease rapidly leads to a somnolent or comatose state and is typically fatal after 9 or 30 months on average (bimodal course). Neuropathologic examination shows marked neuronal loss and gliosis predominantly in thalamic nuclei and inferior olives, while deposition of abnormal prion protein may be relatively sparse.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466

has_age_of_onset

Adult

has_inheritance

Autosomal dominant

hasDbXref

ICD-10:A81.8

ICD-11:8E02.2

UMLS:C0206042

MeSH:D034062

OMIM:600072

MedDRA:10072077

label

Fatal familial insomnia

notation

ORPHA:466

part_of

http://www.orpha.net/ORDO/Orphanet_280400

prefixIRI

ORDO:Orphanet_466

prefLabel

Fatal familial insomnia

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 27.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_280400

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_466 EFO SAME_URI
http://nanbyodata.jp/ontology/NANDO_1200191 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050433 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 EFO LOOM
http://purl.bioontology.org/ontology/ICD9CM/046.72 ICD9CM LOOM
http://purl.obolibrary.org/obo/DOID_0050433 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050433 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050433 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050433 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050433 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84711 NCIT LOOM
http://identifiers.org/omim/600072 REXO LOOM
http://identifiers.org/omim/600072 GEXO LOOM
http://identifiers.org/omim/600072 RETO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0206042 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/83157008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_600072 CCO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050433 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C84711 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/DE-3B040 SNMI LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072077 MEDDRA LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12692 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12692 NIFSTD LOOM
http://purl.bioontology.org/ontology/OMIM/600072 OMIM LOOM
http://localhost/plosthes.2017-1#4286 PLOSTHES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fatal_Familial_Insomnia CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_810 HRDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/A81.83 ICD10CM LOOM
http://purl.obolibrary.org/obo/MONDO_0010808 DOVES LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12692 BIRNLEX LOOM