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 58
X-Linked Recessive Cone Dystrophy with Tapetal-Like Sheen 54
Cone Dystrophy X-Linked with Tapetal-Like Sheen 54

Characteristics:

OMIM:

58
Inheritance:
? x-linked


HPO:

33
cone dystrophy, x-linked, with tapetal-like sheen:
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 58 304030
MedGen 43 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 cone dystrophy. Related phenotypes are abnormality of metabolism/homeostasis and retinal detachment

Description 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 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 retinal detachment 33 HP:0000541
3 visual loss 33 HP:0000572
4 cone/cone-rod dystrophy 33 HP:0000548
5 cone dystrophy 33 HP:0008020
6 abnormal light-adapted electroretinogram 33 HP:0008275

Symptoms via clinical synopsis from OMIM:

58
Eyes:
retinal detachment
defective color vision
cone dystrophy
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 Year
1
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. ( 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
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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