Aliases & Classifications for Peripheral Cone Dystrophy

MalaCards integrated aliases for Peripheral Cone Dystrophy:

Name: Peripheral Cone Dystrophy 58 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
peripheral cone dystrophy:
Inheritance autosomal recessive inheritance


Summaries for Peripheral Cone Dystrophy

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

Description 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

Symptoms & Phenotypes for Peripheral Cone Dystrophy

Human phenotypes related to Peripheral Cone Dystrophy:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 very rare (1%) HP:0000648
2 pericentral scotoma 33 very rare (1%) HP:0007761
3 pallor 33 HP:0000980
4 optic disc pallor 33 HP:0000543
5 cone/cone-rod dystrophy 33 HP:0000548
6 peripheral retinal degeneration 33 HP:0007769
7 paracentral scotoma 33 HP:0030528

Symptoms via clinical synopsis from OMIM:

58
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

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 Year
1
Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. ( 29377742 )
2018
2
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis. ( 30116628 )
2018
3
Multimodal imaging of a case of peripheral cone dystrophy. ( 25708979 )
2015
4
Peripheral cone dystrophy: a diagnostic improbability? ( 24705257 )
2014
5
Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy. ( 23456543 )
2013
6
Peripheral cone dystrophy in an elderly man. ( 19278489 )
2008
7
Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system. ( 15051206 )
2004

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
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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