CORD17
MCID: CNR027
MIFTS: 20

Cone-Rod Dystrophy 17 (CORD17)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 17

MalaCards integrated aliases for Cone-Rod Dystrophy 17:

Name: Cone-Rod Dystrophy 17 57 12 29 13 15 72
Cord17 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease around 10 years of age


HPO:

32
cone-rod dystrophy 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111023
MedGen 42 C3554610
UMLS 72 C3554610

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 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

More information from OMIM: 615163 PS120970

Related Diseases for Cone-Rod Dystrophy 17

Symptoms & Phenotypes for Cone-Rod Dystrophy 17

Human phenotypes related to Cone-Rod Dystrophy 17:

32 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 photophobia 32 HP:0000613
3 central scotoma 32 HP:0000603
4 optic disc pallor 32 HP:0000543
5 cone/cone-rod dystrophy 32 HP:0000548

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
central scotoma
optic disc pallor
atrophy of retinal pigment epithelium
narrowing of retinal vessels
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 29

Anatomical Context for Cone-Rod Dystrophy 17

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

41
Bone, Eye

Publications for Cone-Rod Dystrophy 17

Articles related to Cone-Rod Dystrophy 17:

(showing 3, show less)
# Title Authors PMID Year
1
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. 8
22929024 2013
2
Cone rod dystrophies. 71
17270046 2007
3
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000

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
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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