MCID: CND035
MIFTS: 12

Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Categories: Rare diseases

Aliases & Classifications for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

MalaCards integrated aliases for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen:

Name: Cone Dystrophy, X-Linked, with Tapetal-Like Sheen 56
X-Linked Recessive Cone Dystrophy with Tapetal-Like Sheen 52
Cone Dystrophy X-Linked with Tapetal-Like Sheen 52

Characteristics:

OMIM:

56
Inheritance:
? x-linked


HPO:

31
cone dystrophy, x-linked, with tapetal-like sheen:
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 304030
MedGen 41 C1844775

Summaries for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

MalaCards based summary : Cone Dystrophy, X-Linked, with Tapetal-Like Sheen, also known as x-linked recessive cone dystrophy with tapetal-like sheen, is related to retinal detachment and cone-rod dystrophy, x-linked, 1. Related phenotypes are abnormality of metabolism/homeostasis and retinal detachment

More information from OMIM: 304030

Related Diseases for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Diseases related to Cone Dystrophy, X-Linked, with Tapetal-Like Sheen via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinal detachment 10.6
2 cone-rod dystrophy, x-linked, 1 10.6
3 cone dystrophy 10.6

Symptoms & Phenotypes for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Human phenotypes related to Cone Dystrophy, X-Linked, with Tapetal-Like Sheen:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 retinal detachment 31 HP:0000541
3 visual loss 31 HP:0000572
4 cone/cone-rod dystrophy 31 HP:0000548
5 abnormal light-adapted electroretinogram 31 HP:0008275
6 cone dystrophy 31 HP:0008020

Symptoms via clinical synopsis from OMIM:

56
Eyes:
retinal detachment
cone dystrophy
defective color vision
greenish-golden tapetal-like retinal sheen
gradual visual loss
more
Lab:
elevated cone thresholds on dark adaptometry
abnormal cone-mediated electroretinogram
fading of retinal sheen with clearer choroidal structures on dark adaptation

Misc:
onset in third decade

Clinical features from OMIM:

304030

Drugs & Therapeutics for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Search Clinical Trials , NIH Clinical Center for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Genetic Tests for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Anatomical Context for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Publications for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Articles related to Cone Dystrophy, X-Linked, with Tapetal-Like Sheen:

# Title Authors PMID Year
1
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. 61 56
3489456 1986

Variations for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Expression for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Search GEO for disease gene expression data for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen.

Pathways for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

GO Terms for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

Sources for Cone Dystrophy, X-Linked, with Tapetal-Like Sheen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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