MCID: NWF001
MIFTS: 19

Newfoundland Rod-Cone Dystrophy

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Newfoundland Rod-Cone Dystrophy

MalaCards integrated aliases for Newfoundland Rod-Cone Dystrophy:

Name: Newfoundland Rod-Cone Dystrophy 53 36 28 13 69
Nfrcd 53 12 71
Newfoundland Cone-Rod Dystrophy 12
Rod-Cone Dystrophy Newfoundland 71

Characteristics:

HPO:

31
newfoundland rod-cone dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 607476
Disease Ontology 12 DOID:0111015
MedGen 39 C1843815
MeSH 41 D012174
KEGG 36 H01009
UMLS 69 C1843815

Summaries for Newfoundland Rod-Cone Dystrophy

UniProtKB/Swiss-Prot : 71 Rod-cone dystrophy Newfoundland: A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss.

MalaCards based summary : Newfoundland Rod-Cone Dystrophy, also known as nfrcd, is related to cone dystrophy and retinitis, and has symptoms including visual impairment, abnormality of color vision and retinal dystrophy. An important gene associated with Newfoundland Rod-Cone Dystrophy is RLBP1 (Retinaldehyde Binding Protein 1). Affiliated tissues include eye.

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.

Description from OMIM: 607476

Related Diseases for Newfoundland Rod-Cone Dystrophy

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

# Related Disease Score Top Affiliating Genes
1 cone dystrophy 10.2
2 retinitis 10.2

Symptoms & Phenotypes for Newfoundland Rod-Cone Dystrophy

Clinical features from OMIM:

607476

Human phenotypes related to Newfoundland Rod-Cone Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 abnormality of color vision 31 HP:0000551
3 retinal dystrophy 31 HP:0000556
4 scotoma 31 HP:0000575
5 nyctalopia 31 HP:0000662

Drugs & Therapeutics for Newfoundland Rod-Cone Dystrophy

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

Genetic Tests for Newfoundland Rod-Cone Dystrophy

Genetic tests related to Newfoundland Rod-Cone Dystrophy:

# Genetic test Affiliating Genes
1 Newfoundland Rod-Cone Dystrophy 28 RLBP1

Anatomical Context for Newfoundland Rod-Cone Dystrophy

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

38
Eye

Publications for Newfoundland Rod-Cone Dystrophy

Articles related to Newfoundland Rod-Cone Dystrophy:

# Title Authors Year
1
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. ( 11868161 )
2002

Variations for Newfoundland Rod-Cone Dystrophy

ClinVar genetic disease variations for Newfoundland Rod-Cone Dystrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RLBP1 RLBP1, IVS3, T-C, +2 single nucleotide variant Pathogenic
2 RLBP1 RLBP1, 324G-A single nucleotide variant Pathogenic

Expression for Newfoundland Rod-Cone Dystrophy

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

Pathways for Newfoundland Rod-Cone Dystrophy

GO Terms for Newfoundland Rod-Cone Dystrophy

Sources for Newfoundland Rod-Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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