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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   prosopagnosia
  

Disease ID 1587
Disease prosopagnosia
Definition
The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition. (From Cortex 1995 Jun;31(2):317-29)
Synonym
agnosia for face
agnosia for faces
agnosia, facial recognition
agnosias, facial recognition
face blindness
facial agnosia
facial recognition agnosia
facial recognition agnosias
prosopagnosia (finding)
prosopagnosia [disease/finding]
prosopagnosias
recognition agnosia, facial
recognition agnosias, facial
OMIM
DOID
UMLS
C0234512
MeSH
SNOMED-CT
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:14)
26289  |  AK5  |  3.395  |  DISEASES
51428  |  DDX41  |  1.041  |  DISEASES
1760  |  DMPK  |  2.121  |  DISEASES
2155  |  F7  |  1.241  |  DISEASES
2253  |  FGF8  |  2.387  |  DISEASES
8518  |  IKBKAP  |  1.871  |  DISEASES
89822  |  KCNK17  |  2.473  |  DISEASES
3778  |  KCNMA1  |  2.129  |  DISEASES
9622  |  KLK4  |  1.295  |  DISEASES
4137  |  MAPT  |  2.346  |  DISEASES
8031  |  NCOA4  |  2.36  |  DISEASES
5021  |  OXTR  |  2.496  |  DISEASES
5663  |  PSEN1  |  5.235  |  DISEASES
29110  |  TBK1  |  2.375  |  DISEASES
Locus(Waiting for update.)
Disease ID 1587
Disease prosopagnosia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:3)
HP:0001297  |  Cerebral vascular events  |  1
HP:0010523  |  Alexia  |  1
HP:0002120  |  Cerebral cortical atrophy  |  1
Disease ID 1587
Disease prosopagnosia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0042373  |  vascular disease
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1587
Disease prosopagnosia
Case(Waiting for update.)