RP14
MCID: RTN044
MIFTS: 43

Retinitis Pigmentosa 14 (RP14)

Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinitis Pigmentosa 14

MalaCards integrated aliases for Retinitis Pigmentosa 14:

Name: Retinitis Pigmentosa 14 57 11 73 28 5 43 14 71
Rp14 57 11 73
Retinitis Pigmentosa Juvenile Tulp1-Related 73
Retinitis Pigmentosa, Type 14 38
Retinitis Pigmentosa-14 12

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110381
OMIM® 57 600132
OMIM Phenotypic Series 57 PS268000
ICD10 31 H35.5
MedGen 40 C1838603
UMLS 71 C1838603

Summaries for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot: 73 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 mitochondrial dna-associated leigh syndrome. An important gene associated with Retinitis Pigmentosa 14 is TULP1 (TUB Like Protein 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and rRNA processing in the nucleus and cytosol. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and reduced visual acuity

Disease Ontology: 11 A retinitis pigmentosa that has material basis in mutation in the TULP1 gene on chromosome 6p21.

More information from OMIM: 600132 PS268000

Related Diseases for Retinitis Pigmentosa 14

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 91 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 Retinitis Pigmentosa 86
Retinitis Pigmentosa 88 Retinitis Pigmentosa 89
Retinitis Pigmentosa 90 Retinitis Pigmentosa 92
Retinitis Pigmentosa 93 Retinitis Pigmentosa 95
Nonsyndromic Retinitis Pigmentosa

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 15 11.0
2 mitochondrial dna-associated leigh syndrome 10.1 MT-TV MT-TK
3 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 10.1 MT-TV MT-TK
4 leber congenital amaurosis 4 10.1 TULP1 PDE6A
5 retinitis pigmentosa 26 10.1 TULP1 PDE6A
6 retinitis pigmentosa 10.0
7 keratomalacia 10.0
8 retinitis 10.0
9 late-onset retinal degeneration 10.0 TULP1 PDE6A
10 fundus albipunctatus 9.9 TULP1 RDH5 PDE6A
11 stargardt disease 9.9 TULP1 RDH5 PDE6A
12 retinitis pigmentosa 20 9.9 RPS2 MT-TV MT-TK
13 retinitis pigmentosa 36 9.9 RPS2 MT-TV MT-TK
14 cone dystrophy 9.9 TULP1 RDH5 PDE6A
15 macrocytic anemia 9.8 RPS29 RPS14
16 vitelliform macular dystrophy 9.7 RDH5 PDE6A
17 refractive error 9.6 RDH5 GRM6
18 night blindness 9.5 TULP1 RDH5 PDE6A GRM6
19 congenital stationary night blindness 9.5 TULP1 RDH5 PDE6A GRM6
20 diamond-blackfan anemia 9.5 RPS5 RPS29 RPS2 RPS14
21 leber plus disease 9.4 TULP1 RDH5 PDE6A GRM6
22 eye disease 9.4 TULP1 RDH5 PDE6A GRM6
23 fundus dystrophy 9.4 TULP1 RDH5 PDE6A GRM6
24 cone-rod dystrophy 2 9.4 TULP1 RDH5 PDE6A GRM6

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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 Very rare (1%) HP:0000639
2 reduced visual acuity 30 Very rare (1%) HP:0007663
3 nyctalopia 30 Very rare (1%) HP:0000662
4 rod-cone dystrophy 30 Very rare (1%) HP:0000510
5 posterior subcapsular cataract 30 Very rare (1%) HP:0007787
6 undetectable electroretinogram 30 Very rare (1%) HP:0000550
7 optic disc pallor 30 HP:0000543
8 constriction of peripheral visual field 30 HP:0001133
9 bone spicule pigmentation of the retina 30 HP:0007737
10 retinal arteriolar constriction 30 HP:0008043

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
nyctalopia
optic disc pallor
retinitis pigmentosa
low visual acuity
more

Clinical features from OMIM®:

600132 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.09 RPS14
2 Decreased viability GR00240-S-1 10.09 RDH5 RPS14 RPS2 RPS5
3 Decreased viability GR00249-S 10.09 RPS14 RPS2 RPS5
4 Decreased viability GR00381-A-1 10.09 RDH5 RPS14
5 Decreased viability GR00386-A-1 10.09 RDH5 RPS14 RPS2 RPS5
6 Decreased viability GR00402-S-2 10.09 RPS14 RPS2 RPS5
7 Nuclear 40S maturation defects GR00209-A-2 8.96 RPS14 RPS5
8 Decreased cell number GR00303-A 8.8 RPS2 RPS29 RPS5

Drugs & Therapeutics for Retinitis Pigmentosa 14

Search Clinical Trials, NIH Clinical Center for Retinitis Pigmentosa 14

Cochrane evidence based reviews: retinitis pigmentosa 14

Genetic Tests for Retinitis Pigmentosa 14

Genetic tests related to Retinitis Pigmentosa 14:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 14 28 TULP1

Anatomical Context for Retinitis Pigmentosa 14

Organs/tissues related to Retinitis Pigmentosa 14:

MalaCards : Retina, Eye, Bone, Monocytes, Brain

Publications for Retinitis Pigmentosa 14

Articles related to Retinitis Pigmentosa 14:

(show all 28)
# Title Authors PMID Year
1
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. 62 57 5
9462751 1998
2
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 57 5
17620573 2007
3
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 57 5
15557452 2004
4
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. 57 5
10440267 1999
5
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. 57 5
9462750 1998
6
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 5
28981474 2017
7
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. 5
25324289 2014
8
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 57
22605927 2012
9
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. 5
21792230 2011
10
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 5
18055821 2007
11
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. 5
9660588 1998
12
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. 57
7987322 1994
13
Causes of Visual Impairment Among the Registered Visually Disabled: A Retrospective Study. 62
34540512 2021
14
Anterior chamber characteristics assessed by rotating Scheimpflug imaging in patients with retinitis pigmentosa. 62
31531546 2019
15
Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa. 62
30324448 2019
16
HIV-1 Nef CAWLEAQ motif: a regulator of monocytes invasion through ENO1 modulation. 62
29404888 2018
17
The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses. 62
26911694 2016
18
Proteomic profiling of SupT1 cells reveal modulation of host proteins by HIV-1 Nef variants. 62
25874870 2015
19
Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications. 62
24894580 2014
20
Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. 62
9521870 1998
21
Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. 62
9096357 1997
22
Scalp, earlobe and nasopharyngeal recordings of the median nerve somatosensory evoked P14 potential in coma and brain death. Detailed latency and amplitude analysis in 181 patients. 62
8931576 1996
23
Cloning and characterisation of the gene encoding the ribosomal protein S5 (also known as rp14, S2, YS8) of Saccharomyces cerevisiae. 62
8524651 1995
24
Modulation of an inhibitory interneuron in the neural circuitry for the tail withdrawal reflex of Aplysia. 62
7608775 1995
25
Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. 62
2356700 1990
26
Characteristics of adherence to plastic tissue culture plates of coagulase-negative staphylococci exposed to subinhibitory concentrations of antimicrobial agents. 62
3335807 1988
27
A monoclonal antibody reactive with Marek's disease tumor-associated surface antigen. 62
6294177 1983
28
[Studies on the retinitis pigmentosa. 14. Degeneration and vitamin A]. 62
5892308 1964

Variations for Retinitis Pigmentosa 14

ClinVar genetic disease variations for Retinitis Pigmentosa 14:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TULP1 NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) SNV Pathogenic
7357 rs121909073 GRCh37: 6:35471400-35471400
GRCh38: 6:35503623-35503623
2 TULP1 NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) SNV Pathogenic
7359 rs121909075 GRCh37: 6:35467877-35467877
GRCh38: 6:35500100-35500100
3 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic
7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
4 TULP1 NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) DEL Pathogenic
7364 rs1581734819 GRCh37: 6:35466212-35466222
GRCh38: 6:35498435-35498445
5 TULP1 NM_003322.6(TULP1):c.718+2T>C SNV Pathogenic
7365 rs1581742970 GRCh37: 6:35477409-35477409
GRCh38: 6:35509632-35509632
6 TULP1 NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) SNV Pathogenic
1065768 GRCh37: 6:35479960-35479960
GRCh38: 6:35512183-35512183
7 TULP1 NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) SNV Pathogenic
7363 rs121909077 GRCh37: 6:35467809-35467809
GRCh38: 6:35500032-35500032
8 TULP1 NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln) SNV Pathogenic
977980 rs146311742 GRCh37: 6:35467808-35467808
GRCh38: 6:35500031-35500031
9 TULP1 NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) SNV Pathogenic
7358 rs121909074 GRCh37: 6:35467782-35467782
GRCh38: 6:35500005-35500005
10 TULP1 NM_003322.6(TULP1):c.1495+1G>A SNV Pathogenic
99665 rs281865168 GRCh37: 6:35467757-35467757
GRCh38: 6:35499980-35499980
11 TULP1 NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr) SNV Pathogenic
1184552 GRCh37: 6:35473564-35473564
GRCh38: 6:35505787-35505787
12 TULP1 NC_000006.11:g.35474055_35474058del DEL Pathogenic
1184553 GRCh37: 6:35474053-35474056
GRCh38: 6:35506276-35506279
13 TULP1 NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) SNV Pathogenic
828151 rs201070350 GRCh37: 6:35473878-35473878
GRCh38: 6:35506101-35506101
14 TULP1 NM_003322.6(TULP1):c.1496-6C>A SNV Likely Pathogenic
99666 rs281865171 GRCh37: 6:35466243-35466243
GRCh38: 6:35498466-35498466
15 TULP1 NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) SNV Likely Pathogenic
99663 rs62636511 GRCh37: 6:35467787-35467787
GRCh38: 6:35500010-35500010
16 TULP1 NM_003322.6(TULP1):c.162dup (p.Thr55fs) DUP Likely Pathogenic
1708378 GRCh37: 6:35479984-35479985
GRCh38: 6:35512207-35512208
17 TULP1 NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) SNV Likely Pathogenic
802210 rs373519519 GRCh37: 6:35473848-35473848
GRCh38: 6:35506071-35506071
18 TULP1 NM_003322.6(TULP1):c.821del (p.Lys274fs) DEL Likely Pathogenic
865921 rs774204108 GRCh37: 6:35476987-35476987
GRCh38: 6:35509210-35509210
19 TULP1 NM_003322.6(TULP1):c.99+1G>A SNV Likely Pathogenic
99675 rs281865166 GRCh37: 6:35480415-35480415
GRCh38: 6:35512638-35512638
20 TULP1 NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs) DUP Likely Pathogenic
1065757 GRCh37: 6:35466176-35466177
GRCh38: 6:35498399-35498400
21 TULP1 NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) SNV Likely Pathogenic
1065758 GRCh37: 6:35473847-35473847
GRCh38: 6:35506070-35506070
22 TULP1 NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) SNV Conflicting Interpretations Of Pathogenicity
143126 rs527236117 GRCh37: 6:35479425-35479425
GRCh38: 6:35511648-35511648
23 TULP1 NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) SNV Uncertain Significance
1042725 rs1761067394 GRCh37: 6:35473543-35473543
GRCh38: 6:35505766-35505766
24 PRPF8 NM_006445.4(PRPF8):c.5619+2T>C SNV Uncertain Significance
932172 rs1911406583 GRCh37: 17:1559940-1559940
GRCh38: 17:1656646-1656646
25 TULP1 NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp) SNV Uncertain Significance
1065674 GRCh37: 6:35473614-35473614
GRCh38: 6:35505837-35505837
26 TULP1 NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln) SNV Uncertain Significance
1339036 GRCh37: 6:35466121-35466121
GRCh38: 6:35498344-35498344
27 TULP1 NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) SNV Benign
94127 rs2064318 GRCh37: 6:35477025-35477025
GRCh38: 6:35509248-35509248
28 TULP1 NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) SNV Benign
99671 rs2064317 GRCh37: 6:35477032-35477032
GRCh38: 6:35509255-35509255
29 TULP1 NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) SNV Benign
286865 rs7764472 GRCh37: 6:35479574-35479574
GRCh38: 6:35511797-35511797
30 TULP1 NM_003322.6(TULP1):c.823-17G>C SNV Benign
1170073 GRCh37: 6:35474073-35474073
GRCh38: 6:35506296-35506296
31 TULP1 NM_003322.6(TULP1):c.499+26C>T SNV Benign
1290548 GRCh37: 6:35478612-35478612
GRCh38: 6:35510835-35510835

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

73
# 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

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 focal adhesion GO:0005925 9.97 RPS5 RPS29 RPS2 RPS14
2 ribosome GO:0005840 9.72 RPS5 RPS29 RPS2 RPS14
3 ribonucleoprotein complex GO:1990904 9.65 RPS5 RPS29 RPS2 RPS14
4 cytosolic ribosome GO:0022626 9.63 RPS5 RPS2 RPS14
5 small ribosomal subunit GO:0015935 9.26 RPS5 RPS29 RPS2
6 cytosolic small ribosomal subunit GO:0022627 9.23 RPS5 RPS29 RPS2 RPS14

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

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.86 RPS14 RPS2 RPS29 RPS5
2 response to stimulus GO:0050896 9.77 TULP1 RDH5 PDE6A GRM6
3 protein localization to cilium GO:0061512 9.73 TULP2 TULP1
4 detection of light stimulus involved in visual perception GO:0050908 9.71 TULP1 GRM6
5 retina development in camera-type eye GO:0060041 9.63 TULP1 PDE6A GRM6
6 ribosomal small subunit assembly GO:0000028 9.62 RPS5 RPS14
7 cytoplasmic translation GO:0002181 9.56 RPS5 RPS29 RPS2 RPS14
8 visual perception GO:0007601 9.28 TULP2 TULP1 RDH5 PDE6A GRM6

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 9.23 RPS5 RPS29 RPS2 RPS14

Sources for Retinitis Pigmentosa 14

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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