RP14
MCID: RTN044
MIFTS: 37

Retinitis Pigmentosa 14 (RP14)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 14

MalaCards integrated aliases for Retinitis Pigmentosa 14:

Name: Retinitis Pigmentosa 14 58 12 54 76 30 13 6 15 74
Rp14 58 12 76
Retinitis Pigmentosa Juvenile Tulp1-Related 76
Retinitis Pigmentosa, Type 14 41
Rp 14 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive (6p)


HPO:

33
retinitis pigmentosa 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110381
OMIM 58 600132
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1838603
UMLS 74 C1838603

Summaries for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 14: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 14, also known as rp14, is related to leber congenital amaurosis 15 and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 14 is TULP1 (TUB Like Protein 1). The drugs Metformin and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related phenotypes are nystagmus and reduced visual acuity

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the TULP1 gene on chromosome 6p21.

Description from OMIM: 600132

Related Diseases for Retinitis Pigmentosa 14

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 15 11.2
2 retinitis pigmentosa 10.1
3 leber congenital amaurosis 4 10.1
4 retinitis 10.1
5 cancer-associated retinopathy 10.0 ENO1 TULP1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 14:



Diseases related to Retinitis Pigmentosa 14

Symptoms & Phenotypes for Retinitis Pigmentosa 14

Human phenotypes related to Retinitis Pigmentosa 14:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 very rare (1%) HP:0000639
2 reduced visual acuity 33 very rare (1%) HP:0007663
3 nyctalopia 33 very rare (1%) HP:0000662
4 rod-cone dystrophy 33 very rare (1%) HP:0000510
5 posterior subcapsular cataract 33 very rare (1%) HP:0007787
6 undetectable electroretinogram 33 very rare (1%) HP:0000550
7 optic disc pallor 33 HP:0000543
8 constriction of peripheral visual field 33 HP:0001133
9 bone spicule pigmentation of the retina 33 HP:0007737
10 retinal arteriolar constriction 33 HP:0008043

Symptoms via clinical synopsis from OMIM:

58
Eyes:
retinitis pigmentosa

Clinical features from OMIM:

600132

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.88 ARHGDIA CTBP2 EIF5A ENO1 KCNN3 MIXL1

Drugs & Therapeutics for Retinitis Pigmentosa 14

Drugs for Retinitis Pigmentosa 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 3 657-24-9 14219 4091
2
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
3
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
4 Sodium-Glucose Transporter 2 Inhibitors Phase 3
5 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 3
6 Hypoglycemic Agents Phase 3
7 Anti-Allergic Agents Phase 2, Phase 3
8 Anti-Asthmatic Agents Phase 2, Phase 3
9 Respiratory System Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dapagliflozin and Metformin,Alone and in Combination, in Overweight/Obese Prior GDM Women Completed NCT02338193 Phase 3 DAPA/MET XR;DAPA;MET XR
2 Study of the Steroid Sparing Effect of Xolair (Omalizumab) in Patients With Persistent Eosinophilic Bronchitis Completed NCT02049294 Phase 2, Phase 3 Placebo

Search NIH Clinical Center for Retinitis Pigmentosa 14

Genetic Tests for Retinitis Pigmentosa 14

Genetic tests related to Retinitis Pigmentosa 14:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 14 30 TULP1

Anatomical Context for Retinitis Pigmentosa 14

MalaCards organs/tissues related to Retinitis Pigmentosa 14:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 14

Articles related to Retinitis Pigmentosa 14:

# Title Authors Year
1
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. ( 18055821 )
2007
2
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. ( 17620573 )
2007
3
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. ( 15024725 )
2004
4
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. ( 15557452 )
2004
5
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. ( 10440267 )
1999
6
Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. ( 9521870 )
1998
7
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. ( 9462750 )
1998
8
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. ( 9462751 )
1998
9
Cloning and characterisation of the gene encoding the ribosomal protein S5 (also known as rp14, S2, YS8) of Saccharomyces cerevisiae. ( 8524651 )
1995

Variations for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 14:

76
# Symbol AA change Variation ID SNP ID
1 TULP1 p.Arg420Pro VAR_007941 rs121909073
2 TULP1 p.Ile459Lys VAR_007942 rs121909075
3 TULP1 p.Phe491Leu VAR_007943 rs121909074
4 TULP1 p.Ala245Val VAR_008275 rs62636707
5 TULP1 p.Lys261Thr VAR_008277
6 TULP1 p.Arg378His VAR_008278 rs148749577
7 TULP1 p.Thr454Met VAR_008279 rs138200747
8 TULP1 p.Lys489Arg VAR_008280 rs62636511
9 TULP1 p.Phe382Ser VAR_037584 rs121909076
10 TULP1 p.Arg482Trp VAR_065502 rs121909077

ClinVar genetic disease variations for Retinitis Pigmentosa 14:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TULP1 NM_003322.5(TULP1): c.1259G> C (p.Arg420Pro) single nucleotide variant Pathogenic rs121909073 GRCh37 Chromosome 6, 35471400: 35471400
2 TULP1 NM_003322.5(TULP1): c.1259G> C (p.Arg420Pro) single nucleotide variant Pathogenic rs121909073 GRCh38 Chromosome 6, 35503623: 35503623
3 TULP1 NM_003322.5(TULP1): c.1471T> C (p.Phe491Leu) single nucleotide variant Pathogenic rs121909074 GRCh37 Chromosome 6, 35467782: 35467782
4 TULP1 NM_003322.5(TULP1): c.1471T> C (p.Phe491Leu) single nucleotide variant Pathogenic rs121909074 GRCh38 Chromosome 6, 35500005: 35500005
5 TULP1 NM_003322.5(TULP1): c.1376T> A (p.Ile459Lys) single nucleotide variant Pathogenic rs121909075 GRCh37 Chromosome 6, 35467877: 35467877
6 TULP1 NM_003322.5(TULP1): c.1376T> A (p.Ile459Lys) single nucleotide variant Pathogenic rs121909075 GRCh38 Chromosome 6, 35500100: 35500100
7 TULP1 TULP1, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
8 TULP1 TULP1, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
9 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh37 Chromosome 6, 35471593: 35471593
10 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh38 Chromosome 6, 35503816: 35503816
11 TULP1 NM_003322.5(TULP1): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs121909077 GRCh37 Chromosome 6, 35467809: 35467809
12 TULP1 NM_003322.5(TULP1): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs121909077 GRCh38 Chromosome 6, 35500032: 35500032
13 TULP1 TULP1, 11-BP DEL, NT1511 deletion Pathogenic
14 TULP1 TULP1, IVS7DS, T-C, +2 single nucleotide variant Pathogenic
15 TULP1 NM_003322.5(TULP1): c.1495+1G> A single nucleotide variant Pathogenic rs281865168 GRCh37 Chromosome 6, 35467757: 35467757
16 TULP1 NM_003322.5(TULP1): c.1495+1G> A single nucleotide variant Pathogenic rs281865168 GRCh38 Chromosome 6, 35499980: 35499980

Expression for Retinitis Pigmentosa 14

Search GEO for disease gene expression data for Retinitis Pigmentosa 14.

Pathways for Retinitis Pigmentosa 14

GO Terms for Retinitis Pigmentosa 14

Cellular components related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 ARHGDIA EIF5A ENO1 OTUB1 PPIA RP9
2 nucleus GO:0005634 9.44 ARHGDIA CTBP2 EIF5A ENO1 MIXL1 OTUB1

Biological processes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.37 TUB TULP1
2 protein localization to cilium GO:0061512 9.33 TUB TULP1 TULP2
3 positive regulation of phagocytosis GO:0050766 9.32 TUB TULP1
4 ribosomal small subunit assembly GO:0000028 9.26 RPS14 RPS5
5 protein localization to photoreceptor outer segment GO:1903546 9.13 TUB TULP1 TULP2
6 receptor localization to non-motile cilium GO:0097500 8.8 TUB TULP1 TULP2

Molecular functions related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol binding GO:0035091 8.8 TUB TULP1 TULP2

Sources for Retinitis Pigmentosa 14

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
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