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Prosopagnosia

MedGen UID:
65884
Concept ID:
C0234512
Mental or Behavioral Dysfunction
Synonym: Prosopagnosia (disease)
SNOMED CT: Agnosia for faces (18358003); Prosopagnosia (18358003)
 
HPO: HP:0010528
Monarch Initiative: MONDO:0003227
OMIM®: 610382

Definition

Inability to recognize faces of familiar persons. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProsopagnosia

Conditions with this feature

Prosopagnosia, hereditary
MedGen UID:
419809
Concept ID:
C2931455
Disease or Syndrome
Prosopagnosia is the inability to recognize someone by the face alone, in the absence of sensory or intellectual impairment (Schwarzer et al., 2007). Almost all reported cases are of the acquired form, but there is evidence for a familial form as well (McConachie, 1976; de Haan, 1999; Galaburda and Duchaine, 2003; Kennerknecht et al., 2006).
Leukodystrophy, hypomyelinating, 15
MedGen UID:
1633653
Concept ID:
C4693733
Disease or Syndrome
Hypomyelinating leukodystrophy-15 (HLD15) is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018) For a discussion of genetic heterogeneity of HLD, see 312080.

Professional guidelines

PubMed

DeGutis J, Campbell A
Cortex 2024 Aug;177:389-392. Epub 2024 Jun 24 doi: 10.1016/j.cortex.2024.06.006. PMID: 38969568
Shah P
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Burns MS
Top Stroke Rehabil 2004 Winter;11(1):1-9. doi: 10.1310/N13K-YKYQ-3XX1-NFAV. PMID: 14872395

Recent clinical studies

Etiology

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Haque S, Vaphiades MS, Lueck CJ
J Neuroophthalmol 2018 Sep;38(3):379-392. doi: 10.1097/WNO.0000000000000556. PMID: 28945627
Barton JJ
Handb Clin Neurol 2011;102:223-61. doi: 10.1016/B978-0-444-52903-9.00015-7. PMID: 21601069
Young AW, Ellis HD
Brain Cogn 1989 Jan;9(1):16-47. doi: 10.1016/0278-2626(89)90042-0. PMID: 2912473
Ellis HD
Br J Psychol 1975 Nov;66(4):409-26. doi: 10.1111/j.2044-8295.1975.tb01477.x. PMID: 1106805

Diagnosis

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Haque S, Vaphiades MS, Lueck CJ
J Neuroophthalmol 2018 Sep;38(3):379-392. doi: 10.1097/WNO.0000000000000556. PMID: 28945627
Barton JJS, Corrow SL
Neuropsychologia 2016 Aug;89:119-124. Epub 2016 Jun 14 doi: 10.1016/j.neuropsychologia.2016.06.008. PMID: 27312748Free PMC Article
Burns MS
Top Stroke Rehabil 2004 Winter;11(1):1-9. doi: 10.1310/N13K-YKYQ-3XX1-NFAV. PMID: 14872395
Damásio AR, Castro-Caldas A
Lancet 1974 Oct 12;2(7885):892-3. doi: 10.1016/s0140-6736(74)91219-7. PMID: 4137800

Therapy

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Wang P, Mu W, Zhan G, Song Z, Fang T, Zhang X, Wang J, Niu L, Bin J, Zhang F, Zhang L, Jia J, Kang X
Annu Int Conf IEEE Eng Med Biol Soc 2022 Jul;2022:3678-3681. doi: 10.1109/EMBC48229.2022.9871791. PMID: 36086144
Pertzov Y, Krill D, Weiss N, Lesinger K, Avidan G
Cortex 2020 Aug;129:119-132. Epub 2020 Apr 28 doi: 10.1016/j.cortex.2020.04.007. PMID: 32450329
Mesad S, Laff R, Devinsky O
Epilepsy Behav 2003 Oct;4(5):567-70. doi: 10.1016/j.yebeh.2003.07.012. PMID: 14527501
Jenkins R, Burton AM, Ellis AW
Cognition 2002 Dec;86(2):B43-52. doi: 10.1016/s0010-0277(02)00172-5. PMID: 12435538

Prognosis

Ramon M
Neuropsychologia 2021 Jul 30;158:107809. Epub 2021 Mar 2 doi: 10.1016/j.neuropsychologia.2021.107809. PMID: 33662395
Stumps A, Saad E, Rothlein D, Verfaellie M, DeGutis J
Cortex 2020 Sep;130:64-77. Epub 2020 May 18 doi: 10.1016/j.cortex.2020.04.016. PMID: 32640375Free PMC Article
Rubino C, Corrow SL, Corrow JC, Duchaine B, Barton JJ
Cogn Neuropsychol 2016 Jul-Sep;33(5-6):315-28. doi: 10.1080/02643294.2016.1204281. PMID: 27593455
Ellis HD, Young AW
Br J Psychiatry 1990 Aug;157:239-48. doi: 10.1192/bjp.157.2.239. PMID: 2224375
Young AW, Ellis HD
Brain Cogn 1989 Jan;9(1):16-47. doi: 10.1016/0278-2626(89)90042-0. PMID: 2912473

Clinical prediction guides

Rossion B, Jacques C, Jonas J
Neurosci Biobehav Rev 2024 Mar;158:105535. Epub 2024 Jan 6 doi: 10.1016/j.neubiorev.2024.105535. PMID: 38191080
Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Bobak AK, Parris BA, Gregory NJ, Bennetts RJ, Bate S
Q J Exp Psychol (Hove) 2017 Feb;70(2):201-217. Epub 2016 Mar 31 doi: 10.1080/17470218.2016.1161059. PMID: 26933872
Young AW
Philos Trans R Soc Lond B Biol Sci 1992 Jan 29;335(1273):47-53; discussion 54. doi: 10.1098/rstb.1992.0006. PMID: 1348137
Ellis HD, Young AW
Br J Psychiatry 1990 Aug;157:239-48. doi: 10.1192/bjp.157.2.239. PMID: 2224375

Recent systematic reviews

Campos DF, Rocca AR, Caixeta LF
Alzheimer Dis Assoc Disord 2022 Jul-Sep 01;36(3):272-279. Epub 2022 Jul 21 doi: 10.1097/WAD.0000000000000511. PMID: 35867973
Feuerriegel D, Churches O, Hofmann J, Keage HAD
Clin Neurophysiol 2015 Jun;126(6):1141-1158. Epub 2014 Sep 28 doi: 10.1016/j.clinph.2014.09.015. PMID: 25306210

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