NFRCD
MCID: NWF001
MIFTS: 18

Newfoundland Rod-Cone Dystrophy (NFRCD)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Newfoundland Rod-Cone Dystrophy

MalaCards integrated aliases for Newfoundland Rod-Cone Dystrophy:

Name: Newfoundland Rod-Cone Dystrophy 58 38 30 13 6 41 74
Nfrcd 58 12 76
Newfoundland Cone-Rod Dystrophy 12 15
Rod-Cone Dystrophy Newfoundland 76

Characteristics:

HPO:

33
newfoundland rod-cone dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111015
OMIM 58 607476
KEGG 38 H01009
MeSH 45 D012174
MedGen 43 C1843815
UMLS 74 C1843815

Summaries for Newfoundland Rod-Cone Dystrophy

UniProtKB/Swiss-Prot : 76 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 fundus dystrophy. An important gene associated with Newfoundland Rod-Cone Dystrophy is RLBP1 (Retinaldehyde Binding Protein 1). Affiliated tissues include eye, and related phenotypes are nyctalopia 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 10.3
2 fundus dystrophy 10.3

Symptoms & Phenotypes for Newfoundland Rod-Cone Dystrophy

Human phenotypes related to Newfoundland Rod-Cone Dystrophy:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 abnormality of color vision 33 HP:0000551
3 retinal dystrophy 33 HP:0000556
4 scotoma 33 HP:0000575

Clinical features from OMIM:

607476

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 30 RLBP1

Anatomical Context for Newfoundland Rod-Cone Dystrophy

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

42
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 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh37 Chromosome 15, 89761908: 89761908
2 RLBP1 NM_000326.4(RLBP1): c.29T> A (p.Met10Lys) single nucleotide variant Benign/Likely benign rs77384282 GRCh38 Chromosome 15, 89218677: 89218677
3 RLBP1 RLBP1, IVS3, T-C, +2 single nucleotide variant Pathogenic
4 RLBP1 RLBP1, 324G-A single nucleotide variant Pathogenic
5 RLBP1 NM_000326.4(RLBP1): c.303C> T (p.Arg101=) single nucleotide variant Conflicting interpretations of pathogenicity rs144254383 GRCh37 Chromosome 15, 89760394: 89760394
6 RLBP1 NM_000326.4(RLBP1): c.303C> T (p.Arg101=) single nucleotide variant Conflicting interpretations of pathogenicity rs144254383 GRCh38 Chromosome 15, 89217163: 89217163
7 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh37 Chromosome 15, 89755113: 89755113
8 RLBP1 NM_000326.4(RLBP1): c.545T> G (p.Phe182Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142244640 GRCh38 Chromosome 15, 89211882: 89211882
9 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh37 Chromosome 15, 89760343: 89760348
10 RLBP1 NM_000326.4(RLBP1): c.346+3_346+8delGAGGCC deletion Benign/Likely benign rs56307321 GRCh38 Chromosome 15, 89217112: 89217117
11 RLBP1 NM_000326.4(RLBP1): c.*356G> A single nucleotide variant Likely benign rs190236976 GRCh38 Chromosome 15, 89209929: 89209929
12 RLBP1 NM_000326.4(RLBP1): c.*356G> A single nucleotide variant Likely benign rs190236976 GRCh37 Chromosome 15, 89753160: 89753160
13 RLBP1 NM_000326.4(RLBP1): c.*334T> C single nucleotide variant Uncertain significance rs886051500 GRCh38 Chromosome 15, 89209951: 89209951
14 RLBP1 NM_000326.4(RLBP1): c.*334T> C single nucleotide variant Uncertain significance rs886051500 GRCh37 Chromosome 15, 89753182: 89753182
15 RLBP1 NM_000326.4(RLBP1): c.924C> G (p.Pro308=) single nucleotide variant Likely benign rs144615495 GRCh38 Chromosome 15, 89210315: 89210315
16 RLBP1 NM_000326.4(RLBP1): c.924C> G (p.Pro308=) single nucleotide variant Likely benign rs144615495 GRCh37 Chromosome 15, 89753546: 89753546
17 RLBP1 NM_000326.4(RLBP1): c.795+15C> T single nucleotide variant Likely benign rs181863443 GRCh38 Chromosome 15, 89210684: 89210684
18 RLBP1 NM_000326.4(RLBP1): c.795+15C> T single nucleotide variant Likely benign rs181863443 GRCh37 Chromosome 15, 89753915: 89753915
19 RLBP1 NM_000326.4(RLBP1): c.304G> C (p.Ala102Pro) single nucleotide variant Uncertain significance rs143121722 GRCh38 Chromosome 15, 89217162: 89217162
20 RLBP1 NM_000326.4(RLBP1): c.304G> C (p.Ala102Pro) single nucleotide variant Uncertain significance rs143121722 GRCh37 Chromosome 15, 89760393: 89760393
21 RLBP1 NM_000326.4(RLBP1): c.191G> A (p.Arg64Gln) single nucleotide variant Likely benign rs201865787 GRCh38 Chromosome 15, 89217275: 89217275
22 RLBP1 NM_000326.4(RLBP1): c.191G> A (p.Arg64Gln) single nucleotide variant Likely benign rs201865787 GRCh37 Chromosome 15, 89760506: 89760506
23 RLBP1 NM_000326.4(RLBP1): c.-70G> A single nucleotide variant Benign rs3743384 GRCh38 Chromosome 15, 89219045: 89219045
24 RLBP1 NM_000326.4(RLBP1): c.-70G> A single nucleotide variant Benign rs3743384 GRCh37 Chromosome 15, 89762276: 89762276
25 RLBP1 NM_000326.4(RLBP1): c.-182G> C single nucleotide variant Uncertain significance rs886051503 GRCh38 Chromosome 15, 89219818: 89219818
26 RLBP1 NM_000326.4(RLBP1): c.-182G> C single nucleotide variant Uncertain significance rs886051503 GRCh37 Chromosome 15, 89763049: 89763049
27 RLBP1 NM_000326.4(RLBP1): c.-285C> G single nucleotide variant Likely benign rs574201786 GRCh38 Chromosome 15, 89221596: 89221596
28 RLBP1 NM_000326.4(RLBP1): c.-285C> G single nucleotide variant Likely benign rs574201786 GRCh37 Chromosome 15, 89764827: 89764827
29 RLBP1 NM_000326.4(RLBP1): c.*380C> T single nucleotide variant Likely benign rs115275013 GRCh37 Chromosome 15, 89753136: 89753136
30 RLBP1 NM_000326.4(RLBP1): c.*380C> T single nucleotide variant Likely benign rs115275013 GRCh38 Chromosome 15, 89209905: 89209905
31 RLBP1 NM_000326.4(RLBP1): c.807C> T (p.His269=) single nucleotide variant Likely benign rs62640017 GRCh38 Chromosome 15, 89210432: 89210432
32 RLBP1 NM_000326.4(RLBP1): c.807C> T (p.His269=) single nucleotide variant Likely benign rs62640017 GRCh37 Chromosome 15, 89753663: 89753663
33 RLBP1 NM_000326.4(RLBP1): c.228G> A (p.Ser76=) single nucleotide variant Uncertain significance rs202116993 GRCh38 Chromosome 15, 89217238: 89217238
34 RLBP1 NM_000326.4(RLBP1): c.228G> A (p.Ser76=) single nucleotide variant Uncertain significance rs202116993 GRCh37 Chromosome 15, 89760469: 89760469
35 RLBP1 NM_000326.4(RLBP1): c.-72C> T single nucleotide variant Uncertain significance rs886051501 GRCh38 Chromosome 15, 89219047: 89219047
36 RLBP1 NM_000326.4(RLBP1): c.-72C> T single nucleotide variant Uncertain significance rs886051501 GRCh37 Chromosome 15, 89762278: 89762278
37 RLBP1 NM_000326.4(RLBP1): c.-199T> C single nucleotide variant Likely benign rs117263224 GRCh38 Chromosome 15, 89219835: 89219835
38 RLBP1 NM_000326.4(RLBP1): c.-199T> C single nucleotide variant Likely benign rs117263224 GRCh37 Chromosome 15, 89763066: 89763066
39 RLBP1 NM_000326.4(RLBP1): c.-234C> T single nucleotide variant Uncertain significance rs779779512 GRCh38 Chromosome 15, 89221545: 89221545
40 RLBP1 NM_000326.4(RLBP1): c.-234C> T single nucleotide variant Uncertain significance rs779779512 GRCh37 Chromosome 15, 89764776: 89764776
41 RLBP1 NM_000326.4(RLBP1): c.-354C> T single nucleotide variant Likely benign rs117193134 GRCh38 Chromosome 15, 89221665: 89221665
42 RLBP1 NM_000326.4(RLBP1): c.-354C> T single nucleotide variant Likely benign rs117193134 GRCh37 Chromosome 15, 89764896: 89764896
43 RLBP1 NM_000326.4(RLBP1): c.*322C> T single nucleotide variant Benign rs8039787 GRCh38 Chromosome 15, 89209963: 89209963
44 RLBP1 NM_000326.4(RLBP1): c.*322C> T single nucleotide variant Benign rs8039787 GRCh37 Chromosome 15, 89753194: 89753194
45 RLBP1 NM_000326.4(RLBP1): c.*167T> G single nucleotide variant Benign rs834 GRCh38 Chromosome 15, 89210118: 89210118
46 RLBP1 NM_000326.4(RLBP1): c.*167T> G single nucleotide variant Benign rs834 GRCh37 Chromosome 15, 89753349: 89753349
47 RLBP1 NM_000326.4(RLBP1): c.796-7C> G single nucleotide variant Likely benign rs74029958 GRCh38 Chromosome 15, 89210450: 89210450
48 RLBP1 NM_000326.4(RLBP1): c.796-7C> G single nucleotide variant Likely benign rs74029958 GRCh37 Chromosome 15, 89753681: 89753681
49 RLBP1 NM_000326.4(RLBP1): c.306A> C (p.Ala102=) single nucleotide variant Likely benign rs143817941 GRCh38 Chromosome 15, 89217160: 89217160
50 RLBP1 NM_000326.4(RLBP1): c.306A> C (p.Ala102=) single nucleotide variant Likely benign rs143817941 GRCh37 Chromosome 15, 89760391: 89760391

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
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
Content
Loading form....