MCID: CHR167
MIFTS: 23

Chorioretinal Atrophy, Progressive Bifocal

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Chorioretinal Atrophy, Progressive Bifocal

MalaCards integrated aliases for Chorioretinal Atrophy, Progressive Bifocal:

Name: Chorioretinal Atrophy, Progressive Bifocal 57 53 13 73
Progressive Bifocal Chorioretinal Atrophy 57 53 59
Crapb 57 53 59
Pbcra 57 53 59
Progressive Bifocal Chorioretinal Atrophy; Pbcra 57

Characteristics:

Orphanet epidemiological data:

59
progressive bifocal chorioretinal atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant (6q)


HPO:

32
chorioretinal atrophy, progressive bifocal:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 600790
Orphanet 59 ORPHA75373
MESH via Orphanet 45 C535356
UMLS via Orphanet 74 C1833321
MedGen 42 C1833321
UMLS 73 C1833321

Summaries for Chorioretinal Atrophy, Progressive Bifocal

NIH Rare Diseases : 53 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 chorioretinitis and macular dystrophy, retinal, 1, north carolina type. 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 chorioretinitis 10.4
2 macular dystrophy, retinal, 1, north carolina type 10.3

Symptoms & Phenotypes for Chorioretinal Atrophy, Progressive Bifocal

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus
myopia
retinal detachment
congenital chorioretinal dystrophy
poor vision
more

Clinical features from OMIM:

600790

Human phenotypes related to Chorioretinal Atrophy, Progressive Bifocal:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
3 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
4 esotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000565
5 pigmentary retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000580
6 chorioretinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001135
7 retinal detachment 32 HP:0000541
8 chorioretinal atrophy 32 HP:0000533
9 noninflammatory macular atrophy 59 Very frequent (99-80%)
10 macular atrophy 32 hallmark (90%) HP:0007401

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:

41
Eye, Retina

Publications for Chorioretinal Atrophy, Progressive Bifocal

Articles related to Chorioretinal Atrophy, Progressive Bifocal:

# Title Authors Year
1
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
2
Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. ( 8643244 )
1996
3
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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