MCID: CNR023
MIFTS: 15

Cone-Rod Dystrophy 8

Categories: Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy 8

MalaCards integrated aliases for Cone-Rod Dystrophy 8:

Name: Cone-Rod Dystrophy 8 57 12 29 13 73
Cord8 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cone-rod dystrophy 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 8

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24.

MalaCards based summary : Cone-Rod Dystrophy 8, also known as cord8, is related to cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 8 is CORD8 (Cone Rod Dystrophy 8). Affiliated tissues include eye, and related phenotypes are cone/cone-rod dystrophy and abnormality of the optic nerve

Description from OMIM: 605549

Related Diseases for Cone-Rod Dystrophy 8

Diseases related to Cone-Rod Dystrophy 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 11.3

Symptoms & Phenotypes for Cone-Rod Dystrophy 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
initial loss of central visual acuity and color vision
photophobia and epiphora in day light
eventual loss of peripheral vision and night blindness
marked macular degeneration
mild retinal arteriolar constriction
more
Laboratory Abnormalities:
electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished


Clinical features from OMIM:

605549

Human phenotypes related to Cone-Rod Dystrophy 8:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cone/cone-rod dystrophy 32 HP:0000548
2 abnormality of the optic nerve 32 HP:0000587
3 macular degeneration 32 HP:0000608
4 photophobia 32 HP:0000613
5 nyctalopia 32 occasional (7.5%) HP:0000662
6 abnormality of retinal pigmentation 32 HP:0007703
7 peripheral visual field loss 32 occasional (7.5%) HP:0007994
8 retinal arteriolar constriction 32 HP:0008043
9 epiphora 32 HP:0009926

Drugs & Therapeutics for Cone-Rod Dystrophy 8

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 8

Genetic Tests for Cone-Rod Dystrophy 8

Genetic tests related to Cone-Rod Dystrophy 8:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 8 29

Anatomical Context for Cone-Rod Dystrophy 8

MalaCards organs/tissues related to Cone-Rod Dystrophy 8:

41
Eye

Publications for Cone-Rod Dystrophy 8

Variations for Cone-Rod Dystrophy 8

Expression for Cone-Rod Dystrophy 8

Search GEO for disease gene expression data for Cone-Rod Dystrophy 8.

Pathways for Cone-Rod Dystrophy 8

GO Terms for Cone-Rod Dystrophy 8

Sources for Cone-Rod Dystrophy 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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