MCID: CHR167
MIFTS: 22

Chorioretinal Atrophy, Progressive Bifocal

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Chorioretinal Atrophy, Progressive Bifocal

MalaCards integrated aliases for Chorioretinal Atrophy, Progressive Bifocal:

Name: Chorioretinal Atrophy, Progressive Bifocal 58 54 74
Progressive Bifocal Chorioretinal Atrophy 58 54 60 13
Crapb 58 54 60
Pbcra 58 54 60
Progressive Bifocal Chorioretinal Atrophy; Pbcra 58

Characteristics:

Orphanet epidemiological data:

60
progressive bifocal chorioretinal atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant (6q)


HPO:

33
chorioretinal atrophy, progressive bifocal:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 600790
MESH via Orphanet 46 C535356
UMLS via Orphanet 75 C1833321
Orphanet 60 ORPHA75373
MedGen 43 C1833321
UMLS 74 C1833321

Summaries for Chorioretinal Atrophy, Progressive Bifocal

NIH Rare Diseases : 54 Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression. Widespread abnormalities of rod and cone function has been described. PBCRA is caused by mutations in a gene which has mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. It is inherited in an autosomal dominant fashion. To date, there is no effective treatment for this condition.

MalaCards based summary : Chorioretinal Atrophy, Progressive Bifocal, also known as progressive bifocal chorioretinal atrophy, is related to macular dystrophy, retinal, 1, north carolina type and fundus dystrophy. An important gene associated with Chorioretinal Atrophy, Progressive Bifocal is PBCRA1 (Progressive Bifocal Chorioretinal Atrophy 1). Affiliated tissues include eye and retina, and related phenotypes are nystagmus and visual impairment

Description from OMIM: 600790

Related Diseases for Chorioretinal Atrophy, Progressive Bifocal

Diseases related to Chorioretinal Atrophy, Progressive Bifocal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macular dystrophy, retinal, 1, north carolina type 10.4
2 fundus dystrophy 10.2

Symptoms & Phenotypes for Chorioretinal Atrophy, Progressive Bifocal

Human phenotypes related to Chorioretinal Atrophy, Progressive Bifocal:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
3 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
4 esotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000565
5 chorioretinal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001135
6 macular atrophy 33 hallmark (90%) HP:0007401
7 pigmentary retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000580
8 retinal detachment 33 HP:0000541
9 chorioretinal atrophy 33 HP:0000533
10 noninflammatory macular atrophy 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
myopia
retinal detachment
congenital chorioretinal dystrophy
poor vision
more

Clinical features from OMIM:

600790

Drugs & Therapeutics for Chorioretinal Atrophy, Progressive Bifocal

Search Clinical Trials , NIH Clinical Center for Chorioretinal Atrophy, Progressive Bifocal

Genetic Tests for Chorioretinal Atrophy, Progressive Bifocal

Anatomical Context for Chorioretinal Atrophy, Progressive Bifocal

MalaCards organs/tissues related to Chorioretinal Atrophy, Progressive Bifocal:

42
Eye, Retina

Publications for Chorioretinal Atrophy, Progressive Bifocal

Articles related to Chorioretinal Atrophy, Progressive Bifocal:

# Title Authors Year
1
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. ( 30710461 )
2019
2
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). ( 9719369 )
1998
3
Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. ( 8643244 )
1996
4
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. ( 8541856 )
1995

Variations for Chorioretinal Atrophy, Progressive Bifocal

Expression for Chorioretinal Atrophy, Progressive Bifocal

Search GEO for disease gene expression data for Chorioretinal Atrophy, Progressive Bifocal.

Pathways for Chorioretinal Atrophy, Progressive Bifocal

GO Terms for Chorioretinal Atrophy, Progressive Bifocal

Sources for Chorioretinal Atrophy, Progressive Bifocal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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