Aliases & Classifications for Peripheral Cone Dystrophy

MalaCards integrated aliases for Peripheral Cone Dystrophy:

Name: Peripheral Cone Dystrophy 57 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
3 reported cases, 1 pedigree of affected sibs, neither parent affected


HPO:

31
peripheral cone dystrophy:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 609021
MedGen 41 C1836946
UMLS 70 C1836946

Summaries for Peripheral Cone Dystrophy

MalaCards based summary : Peripheral Cone Dystrophy is related to cone dystrophy and scotoma. An important gene associated with Peripheral Cone Dystrophy is POC1B (POC1 Centriolar Protein B). Related phenotypes are optic atrophy and pericentral scotoma

More information from OMIM: 609021

Related Diseases for Peripheral Cone Dystrophy

Diseases related to Peripheral Cone Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone dystrophy 10.4
2 scotoma 10.1
3 cone-rod dystrophy 2 9.9
4 night blindness, congenital stationary, autosomal dominant 2 9.9
5 retinal cone dystrophy 1 9.9
6 ifap syndrome 2 9.9
7 uveitis 9.9

Graphical network of the top 20 diseases related to Peripheral Cone Dystrophy:



Diseases related to Peripheral Cone Dystrophy

Symptoms & Phenotypes for Peripheral Cone Dystrophy

Human phenotypes related to Peripheral Cone Dystrophy:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 pericentral scotoma 31 very rare (1%) HP:0007761
3 pallor 31 HP:0000980
4 optic disc pallor 31 HP:0000543
5 cone/cone-rod dystrophy 31 HP:0000548
6 paracentral scotoma 31 HP:0030528
7 peripheral retinal degeneration 31 HP:0007769

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
peripheral retinal cone degeneration
visual acuity loss (none to moderate (20/16 to 20/100))
mild temporal pallor of the optic disc (partial optic atrophy)
defective color vision in some patients
preserved rod function
more

Clinical features from OMIM®:

609021 (Updated 20-May-2021)

Drugs & Therapeutics for Peripheral Cone Dystrophy

Search Clinical Trials , NIH Clinical Center for Peripheral Cone Dystrophy

Genetic Tests for Peripheral Cone Dystrophy

Anatomical Context for Peripheral Cone Dystrophy

Publications for Peripheral Cone Dystrophy

Articles related to Peripheral Cone Dystrophy:

# Title Authors PMID Year
1
Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system. 61 57
15051206 2004
2
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. 61
31390656 2019
3
Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. 61
29377742 2018
4
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. 61
30116628 2018
5
Multimodal imaging of a case of peripheral cone dystrophy. 61
25708979 2015
6
Peripheral cone dystrophy: a diagnostic improbability? 61
24705257 2014
7
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. 61
23456543 2013
8
Case of unilateral peripheral cone dysfunction. 61
22679434 2012
9
Peripheral cone dystrophy in an elderly man. 61
19278489 2008

Variations for Peripheral Cone Dystrophy

Expression for Peripheral Cone Dystrophy

Search GEO for disease gene expression data for Peripheral Cone Dystrophy.

Pathways for Peripheral Cone Dystrophy

GO Terms for Peripheral Cone Dystrophy

Sources for Peripheral Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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