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 57 37 29 13 6 40 73
Nfrcd 57 12 75
Newfoundland Cone-Rod Dystrophy 12
Rod-Cone Dystrophy Newfoundland 75

Characteristics:

HPO:

32
newfoundland rod-cone dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607476
Disease Ontology 12 DOID:0111015
MedGen 42 C1843815
MeSH 44 D012174
KEGG 37 H01009
UMLS 73 C1843815

Summaries for Newfoundland Rod-Cone Dystrophy

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Newfoundland Rod-Cone Dystrophy is RLBP1 (Retinaldehyde Binding Protein 1). Affiliated tissues include eye, and related phenotypes are visual impairment and abnormality of color vision

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
3 fundus dystrophy 10.2

Symptoms & Phenotypes for Newfoundland Rod-Cone Dystrophy

Clinical features from OMIM:

607476

Human phenotypes related to Newfoundland Rod-Cone Dystrophy:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 abnormality of color vision 32 HP:0000551
3 retinal dystrophy 32 HP:0000556
4 scotoma 32 HP:0000575
5 nyctalopia 32 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 29 RLBP1

Anatomical Context for Newfoundland Rod-Cone Dystrophy

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

41
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
(show top 50) (show all 66)
# 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
3 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh37 Chromosome 15, 89761908: 89761908
4 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh38 Chromosome 15, 89218677: 89218677
5 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh37 Chromosome 15, 89755113: 89755113
6 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh38 Chromosome 15, 89211882: 89211882
7 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh37 Chromosome 15, 89760343: 89760348
8 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh38 Chromosome 15, 89217112: 89217117
9 RLBP1 NM_000326.4(RLBP1): c.*356G> A single nucleotide variant Likely benign rs190236976 GRCh38 Chromosome 15, 89209929: 89209929
10 RLBP1 NM_000326.4(RLBP1): c.*356G> A single nucleotide variant Likely benign rs190236976 GRCh37 Chromosome 15, 89753160: 89753160
11 RLBP1 NM_000326.4(RLBP1): c.*334T> C single nucleotide variant Uncertain significance rs886051500 GRCh38 Chromosome 15, 89209951: 89209951
12 RLBP1 NM_000326.4(RLBP1): c.*334T> C single nucleotide variant Uncertain significance rs886051500 GRCh37 Chromosome 15, 89753182: 89753182
13 RLBP1 NM_000326.4(RLBP1): c.924C> G (p.Pro308=) single nucleotide variant Likely benign rs144615495 GRCh38 Chromosome 15, 89210315: 89210315
14 RLBP1 NM_000326.4(RLBP1): c.924C> G (p.Pro308=) single nucleotide variant Likely benign rs144615495 GRCh37 Chromosome 15, 89753546: 89753546
15 RLBP1 NM_000326.4(RLBP1): c.795+15C> T single nucleotide variant Likely benign rs181863443 GRCh38 Chromosome 15, 89210684: 89210684
16 RLBP1 NM_000326.4(RLBP1): c.795+15C> T single nucleotide variant Likely benign rs181863443 GRCh37 Chromosome 15, 89753915: 89753915
17 RLBP1 NM_000326.4(RLBP1): c.304G> C (p.Ala102Pro) single nucleotide variant Uncertain significance rs143121722 GRCh38 Chromosome 15, 89217162: 89217162
18 RLBP1 NM_000326.4(RLBP1): c.304G> C (p.Ala102Pro) single nucleotide variant Uncertain significance rs143121722 GRCh37 Chromosome 15, 89760393: 89760393
19 RLBP1 NM_000326.4(RLBP1): c.191G> A (p.Arg64Gln) single nucleotide variant Likely benign rs201865787 GRCh38 Chromosome 15, 89217275: 89217275
20 RLBP1 NM_000326.4(RLBP1): c.191G> A (p.Arg64Gln) single nucleotide variant Likely benign rs201865787 GRCh37 Chromosome 15, 89760506: 89760506
21 RLBP1 NM_000326.4(RLBP1): c.-70G> A single nucleotide variant Benign rs3743384 GRCh38 Chromosome 15, 89219045: 89219045
22 RLBP1 NM_000326.4(RLBP1): c.-70G> A single nucleotide variant Benign rs3743384 GRCh37 Chromosome 15, 89762276: 89762276
23 RLBP1 NM_000326.4(RLBP1): c.-182G> C single nucleotide variant Uncertain significance rs886051503 GRCh38 Chromosome 15, 89219818: 89219818
24 RLBP1 NM_000326.4(RLBP1): c.-182G> C single nucleotide variant Uncertain significance rs886051503 GRCh37 Chromosome 15, 89763049: 89763049
25 RLBP1 NM_000326.4(RLBP1): c.-285C> G single nucleotide variant Likely benign rs574201786 GRCh38 Chromosome 15, 89221596: 89221596
26 RLBP1 NM_000326.4(RLBP1): c.-285C> G single nucleotide variant Likely benign rs574201786 GRCh37 Chromosome 15, 89764827: 89764827
27 RLBP1 NM_000326.4(RLBP1): c.*380C> T single nucleotide variant Likely benign rs115275013 GRCh37 Chromosome 15, 89753136: 89753136
28 RLBP1 NM_000326.4(RLBP1): c.*380C> T single nucleotide variant Likely benign rs115275013 GRCh38 Chromosome 15, 89209905: 89209905
29 RLBP1 NM_000326.4(RLBP1): c.807C> T (p.His269=) single nucleotide variant Likely benign rs62640017 GRCh38 Chromosome 15, 89210432: 89210432
30 RLBP1 NM_000326.4(RLBP1): c.807C> T (p.His269=) single nucleotide variant Likely benign rs62640017 GRCh37 Chromosome 15, 89753663: 89753663
31 RLBP1 NM_000326.4(RLBP1): c.228G> A (p.Ser76=) single nucleotide variant Uncertain significance rs202116993 GRCh38 Chromosome 15, 89217238: 89217238
32 RLBP1 NM_000326.4(RLBP1): c.228G> A (p.Ser76=) single nucleotide variant Uncertain significance rs202116993 GRCh37 Chromosome 15, 89760469: 89760469
33 RLBP1 NM_000326.4(RLBP1): c.-72C> T single nucleotide variant Uncertain significance rs886051501 GRCh38 Chromosome 15, 89219047: 89219047
34 RLBP1 NM_000326.4(RLBP1): c.-72C> T single nucleotide variant Uncertain significance rs886051501 GRCh37 Chromosome 15, 89762278: 89762278
35 RLBP1 NM_000326.4(RLBP1): c.-199T> C single nucleotide variant Likely benign rs117263224 GRCh38 Chromosome 15, 89219835: 89219835
36 RLBP1 NM_000326.4(RLBP1): c.-199T> C single nucleotide variant Likely benign rs117263224 GRCh37 Chromosome 15, 89763066: 89763066
37 RLBP1 NM_000326.4(RLBP1): c.-234C> T single nucleotide variant Uncertain significance rs779779512 GRCh38 Chromosome 15, 89221545: 89221545
38 RLBP1 NM_000326.4(RLBP1): c.-234C> T single nucleotide variant Uncertain significance rs779779512 GRCh37 Chromosome 15, 89764776: 89764776
39 RLBP1 NM_000326.4(RLBP1): c.-354C> T single nucleotide variant Likely benign rs117193134 GRCh38 Chromosome 15, 89221665: 89221665
40 RLBP1 NM_000326.4(RLBP1): c.-354C> T single nucleotide variant Likely benign rs117193134 GRCh37 Chromosome 15, 89764896: 89764896
41 RLBP1 NM_000326.4(RLBP1): c.*322C> T single nucleotide variant Benign rs8039787 GRCh38 Chromosome 15, 89209963: 89209963
42 RLBP1 NM_000326.4(RLBP1): c.*322C> T single nucleotide variant Benign rs8039787 GRCh37 Chromosome 15, 89753194: 89753194
43 RLBP1 NM_000326.4(RLBP1): c.*167T> G single nucleotide variant Benign rs834 GRCh38 Chromosome 15, 89210118: 89210118
44 RLBP1 NM_000326.4(RLBP1): c.*167T> G single nucleotide variant Benign rs834 GRCh37 Chromosome 15, 89753349: 89753349
45 RLBP1 NM_000326.4(RLBP1): c.796-7C> G single nucleotide variant Likely benign rs74029958 GRCh38 Chromosome 15, 89210450: 89210450
46 RLBP1 NM_000326.4(RLBP1): c.796-7C> G single nucleotide variant Likely benign rs74029958 GRCh37 Chromosome 15, 89753681: 89753681
47 RLBP1 NM_000326.4(RLBP1): c.306A> C (p.Ala102=) single nucleotide variant Likely benign rs143817941 GRCh38 Chromosome 15, 89217160: 89217160
48 RLBP1 NM_000326.4(RLBP1): c.306A> C (p.Ala102=) single nucleotide variant Likely benign rs143817941 GRCh37 Chromosome 15, 89760391: 89760391
49 RLBP1 NM_000326.4(RLBP1): c.141+6G> A single nucleotide variant Likely benign rs181321141 GRCh38 Chromosome 15, 89218559: 89218559
50 RLBP1 NM_000326.4(RLBP1): c.141+6G> A single nucleotide variant Likely benign rs181321141 GRCh37 Chromosome 15, 89761790: 89761790

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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