MCID: CND035
MIFTS: 11

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 57
X-Linked Recessive Cone Dystrophy with Tapetal-Like Sheen 53
Cone Dystrophy X-Linked with Tapetal-Like Sheen 53

Characteristics:

OMIM:

57
Inheritance:
? x-linked


HPO:

32
cone dystrophy, x-linked, with tapetal-like sheen:
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 304030
MedGen 42 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 retinal detachment 32 HP:0000541
3 visual loss 32 HP:0000572
4 cone/cone-rod dystrophy 32 HP:0000548
5 abnormal light-adapted electroretinogram 32 HP:0008275
6 cone dystrophy 32 HP:0008020

Symptoms via clinical synopsis from OMIM:

57
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. 38 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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