CORD17
MCID: CNR027
MIFTS: 21

Cone-Rod Dystrophy 17 (CORD17)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 17

MalaCards integrated aliases for Cone-Rod Dystrophy 17:

Name: Cone-Rod Dystrophy 17 58 12 30 13 74
Cord17 58 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease around 10 years of age


HPO:

33
cone-rod dystrophy 17:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 17

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.

MalaCards based summary : Cone-Rod Dystrophy 17, also known as cord17, is related to cone-rod dystrophy 2 and cone-rod dystrophy and hearing loss 2, and has symptoms including photophobia An important gene associated with Cone-Rod Dystrophy 17 is CORD17 (Cone Rod Dystrophy 17 (Autosomal Dominant)). Affiliated tissues include bone and eye, and related phenotypes are visual impairment and photophobia

Description from OMIM: 615163

Related Diseases for Cone-Rod Dystrophy 17

Symptoms & Phenotypes for Cone-Rod Dystrophy 17

Human phenotypes related to Cone-Rod Dystrophy 17:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 photophobia 33 HP:0000613
3 central scotoma 33 HP:0000603
4 optic disc pallor 33 HP:0000543
5 cone/cone-rod dystrophy 33 HP:0000548

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia
central scotoma
optic disc pallor
narrowing of retinal vessels
atrophy of retinal pigment epithelium
more

Clinical features from OMIM:

615163

UMLS symptoms related to Cone-Rod Dystrophy 17:


photophobia

Drugs & Therapeutics for Cone-Rod Dystrophy 17

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 17

Genetic Tests for Cone-Rod Dystrophy 17

Genetic tests related to Cone-Rod Dystrophy 17:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 17 30

Anatomical Context for Cone-Rod Dystrophy 17

MalaCards organs/tissues related to Cone-Rod Dystrophy 17:

42
Bone, Eye

Publications for Cone-Rod Dystrophy 17

Variations for Cone-Rod Dystrophy 17

Expression for Cone-Rod Dystrophy 17

Search GEO for disease gene expression data for Cone-Rod Dystrophy 17.

Pathways for Cone-Rod Dystrophy 17

GO Terms for Cone-Rod Dystrophy 17

Sources for Cone-Rod Dystrophy 17

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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