NFRCD
MCID: NWF001
MIFTS: 35

Newfoundland Rod-Cone Dystrophy (NFRCD)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Newfoundland Rod-Cone Dystrophy

MalaCards integrated aliases for Newfoundland Rod-Cone Dystrophy:

Name: Newfoundland Rod-Cone Dystrophy 57 36 29 13 6 39 70
Nfrcd 57 12 72
Newfoundland Cone-Rod Dystrophy 12 15
Rod-Cone Dystrophy Newfoundland 72

Characteristics:

HPO:

31
newfoundland rod-cone dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111015
OMIM® 57 607476
KEGG 36 H01009
MeSH 44 D012174
MedGen 41 C1843815
UMLS 70 C1843815

Summaries for Newfoundland Rod-Cone Dystrophy

KEGG : 36 Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive progression. Mutations in RLBP1 gene, encoding the cellular retinaldehyde-binding protein, are likely to cause NFRCD.

MalaCards based summary : Newfoundland Rod-Cone Dystrophy, also known as nfrcd, is related to cone dystrophy and fundus albipunctatus. An important gene associated with Newfoundland Rod-Cone Dystrophy is RLBP1 (Retinaldehyde Binding Protein 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Related phenotypes are nyctalopia and color vision defect

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

UniProtKB/Swiss-Prot : 72 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.

More information 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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 30.1 RLBP1 RHO RDH5 PRPH2 LRAT
2 fundus albipunctatus 30.1 RLBP1 RHO RDH5 PRPH2 LRAT
3 retinitis 30.1 RLBP1 RHO PRPH2
4 fundus dystrophy 29.9 RLBP1 RHO RDH5 PRPH2 LRAT
5 solar retinopathy 10.2 RLBP1 RHO
6 bestrophinopathy, autosomal recessive 10.2 RLBP1 PRPH2
7 pattern dystrophy 10.2 RHO PRPH2
8 bothnia retinal dystrophy 10.2 RLBP1 RDH5 LRAT
9 keratomalacia 10.2 RHO LRAT
10 xerophthalmia 10.2 RHO LRAT
11 retinitis pigmentosa 10.2
12 neuroretinitis 10.2
13 inherited retinal disorder 10.2
14 oguchi disease 10.2 RHO RDH5
15 occult macular dystrophy 10.2 RHO PRPH2
16 exudative vitreoretinopathy 5 10.1 RHO PRPH2
17 peripheral retinal degeneration 10.1 RLBP1 RHO PRPH2
18 hereditary retinal dystrophy 10.1 RHO PRPH2
19 degeneration of macula and posterior pole 10.1 RLBP1 RHO PRPH2
20 late-onset retinal degeneration 10.1 RLBP1 RHO PRPH2
21 choroid disease 10.1 RHO PRPH2
22 vitelliform macular dystrophy 10.1 RLBP1 RHO PRPH2
23 vitreous disease 10.1 RLBP1 RHO
24 leber congenital amaurosis 1 10.1 RHO PRPH2 LRAT
25 ocular hypertension 10.1 TXN RLBP1 RHO
26 leber congenital amaurosis 2 10.0 RHO LRAT
27 gyrate atrophy of choroid and retina 10.0 RLBP1 RHO PRPH2 LRAT
28 eye degenerative disease 10.0 RLBP1 RHO PRPH2 LRAT
29 usher syndrome 9.9 RLBP1 RHO PRPH2 LRAT
30 prolonged electroretinal response suppression 9.9 RHO RDH5
31 stargardt disease 9.9 RLBP1 RHO RDH5 PRPH2 LRAT
32 night blindness 9.9 RLBP1 RHO RDH5 PRPH2 LRAT
33 retinal disease 9.9 RLBP1 RHO RDH5 PRPH2 LRAT
34 congenital stationary night blindness 9.9 RLBP1 RHO RDH5 PRPH2 LRAT
35 retinal degeneration 9.9 RLBP1 RHO RDH5 PRPH2 LRAT
36 leber plus disease 9.9 RLBP1 RHO RDH5 PRPH2 LRAT
37 cone-rod dystrophy 2 9.6 RLBP1 RHO RDH5 PRPH2 LRAT CD276
38 macular degeneration, age-related, 1 9.5 RLBP1 RHO RDH5 PRPH2 LRAT CD55

Graphical network of the top 20 diseases related to Newfoundland Rod-Cone Dystrophy:



Diseases related to Newfoundland Rod-Cone Dystrophy

Symptoms & Phenotypes for Newfoundland Rod-Cone Dystrophy

Human phenotypes related to Newfoundland Rod-Cone Dystrophy:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 color vision defect 31 HP:0000551
3 scotoma 31 HP:0000575
4 retinal dystrophy 31 HP:0000556

Clinical features from OMIM®:

607476 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Newfoundland Rod-Cone Dystrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.8 ANXA2 CD276 MBP

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

Publications for Newfoundland Rod-Cone Dystrophy

Articles related to Newfoundland Rod-Cone Dystrophy:

# Title Authors PMID Year
1
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 61 6 57
11868161 2002
2
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 6
10102299 1999
3
Inbreeding in outport Newfoundland. 57
3377008 1988
4
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. 61
25429852 2015

Variations for Newfoundland Rod-Cone Dystrophy

ClinVar genetic disease variations for Newfoundland Rod-Cone Dystrophy:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RLBP1 RLBP1, IVS3, T-C, +2 SNV Pathogenic 13098 GRCh37:
GRCh38:
2 RLBP1 RLBP1, 324G-A SNV Pathogenic 13099 GRCh37:
GRCh38:
3 RLBP1 NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) SNV Uncertain significance 317238 rs762121817 GRCh37: 15:89758463-89758463
GRCh38: 15:89215232-89215232
4 RLBP1 NM_000326.5(RLBP1):c.-233G>A SNV Uncertain significance 317250 rs886051504 GRCh37: 15:89764775-89764775
GRCh38: 15:89221544-89221544
5 RLBP1 NM_000326.5(RLBP1):c.-182G>C SNV Uncertain significance 317248 rs886051503 GRCh37: 15:89763049-89763049
GRCh38: 15:89219818-89219818
6 RLBP1 NM_000326.5(RLBP1):c.-199T>C SNV Uncertain significance 317249 rs117263224 GRCh37: 15:89763066-89763066
GRCh38: 15:89219835-89219835
7 RLBP1 NM_000326.5(RLBP1):c.*334T>C SNV Uncertain significance 317226 rs886051500 GRCh37: 15:89753182-89753182
GRCh38: 15:89209951-89209951
8 RLBP1 NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln) SNV Uncertain significance 317237 rs200488706 GRCh37: 15:89755011-89755011
GRCh38: 15:89211780-89211780
9 RLBP1 NM_000326.5(RLBP1):c.796-6C>T SNV Uncertain significance 317234 rs201866933 GRCh37: 15:89753680-89753680
GRCh38: 15:89210449-89210449
10 RLBP1 NM_000326.5(RLBP1):c.-234C>T SNV Uncertain significance 317251 rs779779512 GRCh37: 15:89764776-89764776
GRCh38: 15:89221545-89221545
11 RLBP1 NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) SNV Uncertain significance 317244 rs200143313 GRCh37: 15:89761830-89761830
GRCh38: 15:89218599-89218599
12 RLBP1 NM_000326.5(RLBP1):c.-72C>T SNV Uncertain significance 317246 rs886051501 GRCh37: 15:89762278-89762278
GRCh38: 15:89219047-89219047
13 RLBP1 NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) SNV Uncertain significance 317240 rs143121722 GRCh37: 15:89760393-89760393
GRCh38: 15:89217162-89217162
14 RLBP1 NM_000326.5(RLBP1):c.-104T>G SNV Uncertain significance 317247 rs886051502 GRCh37: 15:89762971-89762971
GRCh38: 15:89219740-89219740
15 RLBP1 NM_000326.5(RLBP1):c.228G>A (p.Ser76=) SNV Uncertain significance 317241 rs202116993 GRCh37: 15:89760469-89760469
GRCh38: 15:89217238-89217238
16 RLBP1 NM_000326.5(RLBP1):c.*135G>A SNV Uncertain significance 884446 GRCh37: 15:89753381-89753381
GRCh38: 15:89210150-89210150
17 RLBP1 NM_000326.5(RLBP1):c.924C>A (p.Pro308=) SNV Uncertain significance 884447 GRCh37: 15:89753546-89753546
GRCh38: 15:89210315-89210315
18 RLBP1 NM_000326.5(RLBP1):c.626T>C (p.Met209Thr) SNV Uncertain significance 884503 GRCh37: 15:89755032-89755032
GRCh38: 15:89211801-89211801
19 RLBP1 NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr) SNV Uncertain significance 885370 GRCh37: 15:89753631-89753631
GRCh38: 15:89210400-89210400
20 RLBP1 NM_000326.5(RLBP1):c.*301T>A SNV Uncertain significance 886398 GRCh37: 15:89753215-89753215
GRCh38: 15:89209984-89209984
21 RLBP1 NM_000326.5(RLBP1):c.78A>T (p.Thr26=) SNV Uncertain significance 885501 GRCh37: 15:89761859-89761859
GRCh38: 15:89218628-89218628
22 RLBP1 NM_000326.5(RLBP1):c.*256G>A SNV Uncertain significance 886399 GRCh37: 15:89753260-89753260
GRCh38: 15:89210029-89210029
23 RLBP1 NM_000326.5(RLBP1):c.*403T>C SNV Uncertain significance 887533 GRCh37: 15:89753113-89753113
GRCh38: 15:89209882-89209882
24 RLBP1 NM_000326.5(RLBP1):c.*212G>A SNV Uncertain significance 887404 GRCh37: 15:89753304-89753304
GRCh38: 15:89210073-89210073
25 RLBP1 NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln) SNV Uncertain significance 887653 GRCh37: 15:89754024-89754024
GRCh38: 15:89210793-89210793
26 RLBP1 NM_000326.5(RLBP1):c.684+6G>C SNV Uncertain significance 887654 GRCh37: 15:89754968-89754968
GRCh38: 15:89211737-89211737
27 RLBP1 NM_000326.5(RLBP1):c.228G>C (p.Ser76=) SNV Uncertain significance 887714 GRCh37: 15:89760469-89760469
GRCh38: 15:89217238-89217238
28 RLBP1 NM_000326.5(RLBP1):c.-169T>A SNV Uncertain significance 887774 GRCh37: 15:89763036-89763036
GRCh38: 15:89219805-89219805
29 RLBP1 NM_000326.5(RLBP1):c.924C>G (p.Pro308=) SNV Uncertain significance 317231 rs144615495 GRCh37: 15:89753546-89753546
GRCh38: 15:89210315-89210315
30 RLBP1 NM_000326.5(RLBP1):c.141+6G>A SNV Uncertain significance 317243 rs181321141 GRCh37: 15:89761790-89761790
GRCh38: 15:89218559-89218559
31 RLBP1 NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) SNV Uncertain significance 281739 rs142244640 GRCh37: 15:89755113-89755113
GRCh38: 15:89211882-89211882
32 RLBP1 NM_000326.5(RLBP1):c.303C>T (p.Arg101=) SNV Uncertain significance 92847 rs144254383 GRCh37: 15:89760394-89760394
GRCh38: 15:89217163-89217163
33 RLBP1 NM_000326.5(RLBP1):c.526-4C>T SNV Uncertain significance 885438 GRCh37: 15:89755136-89755136
GRCh38: 15:89211905-89211905
34 RLBP1 NM_000326.5(RLBP1):c.525+14C>T SNV Uncertain significance 885439 GRCh37: 15:89758277-89758277
GRCh38: 15:89215046-89215046
35 RLBP1 NM_000326.5(RLBP1):c.105C>T (p.Gly35=) SNV Likely benign 885500 GRCh37: 15:89761832-89761832
GRCh38: 15:89218601-89218601
36 RLBP1 NM_000326.4(RLBP1):c.-285C>G SNV Likely benign 317252 rs574201786 GRCh37: 15:89764827-89764827
GRCh38: 15:89221596-89221596
37 RLBP1 NM_000326.5(RLBP1):c.*217A>C SNV Likely benign 887403 GRCh37: 15:89753299-89753299
GRCh38: 15:89210068-89210068
38 RLBP1 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) SNV Likely benign 197133 rs77384282 GRCh37: 15:89761908-89761908
GRCh38: 15:89218677-89218677
39 RLBP1 NM_000326.4(RLBP1):c.-354C>T SNV Likely benign 317253 rs117193134 GRCh37: 15:89764896-89764896
GRCh38: 15:89221665-89221665
40 RLBP1 NM_000326.5(RLBP1):c.346+3_346+8del Deletion Likely benign 283817 rs56307321 GRCh37: 15:89760343-89760348
GRCh38: 15:89217112-89217117
41 RLBP1 NM_000326.5(RLBP1):c.*356G>A SNV Likely benign 317225 rs190236976 GRCh37: 15:89753160-89753160
GRCh38: 15:89209929-89209929
42 RLBP1 NM_000326.5(RLBP1):c.306A>C (p.Ala102=) SNV Benign 317239 rs143817941 GRCh37: 15:89760391-89760391
GRCh38: 15:89217160-89217160
43 RLBP1 NM_000326.5(RLBP1):c.796-7C>G SNV Benign 317235 rs74029958 GRCh37: 15:89753681-89753681
GRCh38: 15:89210450-89210450
44 RLBP1 NM_000326.5(RLBP1):c.795+15C>T SNV Benign 317236 rs181863443 GRCh37: 15:89753915-89753915
GRCh38: 15:89210684-89210684
45 RLBP1 NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) SNV Benign 317242 rs201865787 GRCh37: 15:89760506-89760506
GRCh38: 15:89217275-89217275
46 RLBP1 NM_000326.5(RLBP1):c.807C>T (p.His269=) SNV Benign 317233 rs62640017 GRCh37: 15:89753663-89753663
GRCh38: 15:89210432-89210432
47 RLBP1 NM_000326.5(RLBP1):c.*322C>T SNV Benign 317227 rs8039787 GRCh37: 15:89753194-89753194
GRCh38: 15:89209963-89209963
48 RLBP1 NM_000326.5(RLBP1):c.*296G>A SNV Benign 317228 rs2710 GRCh37: 15:89753220-89753220
GRCh38: 15:89209989-89209989
49 RLBP1 NM_000326.5(RLBP1):c.-70G>A SNV Benign 317245 rs3743384 GRCh37: 15:89762276-89762276
GRCh38: 15:89219045-89219045
50 RLBP1 NM_000326.5(RLBP1):c.*380C>T SNV Benign 317224 rs115275013 GRCh37: 15:89753136-89753136
GRCh38: 15:89209905-89209905

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

Cellular components related to Newfoundland Rod-Cone Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 RHO RDH5 PRPH2 NUP85 NUP133 MLEC
2 nuclear pore outer ring GO:0031080 8.62 NUP85 NUP133

Biological processes related to Newfoundland Rod-Cone Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.65 RLBP1 RHO RDH5 PRPH2 LRAT
2 visual perception GO:0007601 9.35 RLBP1 RHO RDH5 PRPH2 LRAT
3 nephron development GO:0072006 9.32 NUP85 NUP133
4 vitamin A metabolic process GO:0006776 9.16 RLBP1 LRAT
5 retinoid metabolic process GO:0001523 8.92 RLBP1 RHO RDH5 LRAT

Molecular functions related to Newfoundland Rod-Cone Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of nuclear pore GO:0017056 9.16 NUP85 NUP133
2 retinol binding GO:0019841 8.96 RLBP1 LRAT
3 11-cis retinal binding GO:0005502 8.62 RLBP1 RHO

Sources for Newfoundland Rod-Cone Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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