RP14
MCID: RTN044
MIFTS: 37

Retinitis Pigmentosa 14 (RP14)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 14

MalaCards integrated aliases for Retinitis Pigmentosa 14:

Name: Retinitis Pigmentosa 14 57 12 20 72 29 13 6 15 70
Rp14 57 12 72
Retinitis Pigmentosa Juvenile Tulp1-Related 72
Retinitis Pigmentosa, Type 14 39
Rp 14 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive (6p)


HPO:

31
retinitis pigmentosa 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110381
OMIM® 57 600132
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1838603
UMLS 70 C1838603

Summaries for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot : 72 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 retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 14 is TULP1 (TUB Like Protein 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include retina, eye and bone, 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.

More information from OMIM: 600132 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.7 RPGR RP9 PRPF8 CERKL
2 retinitis pigmentosa 29.3 TULP2 TULP1 RPGR RP9 PRPF8 CERKL
3 leber congenital amaurosis 15 11.0
4 pseudoretinitis pigmentosa 10.2 TULP1 CERKL
5 retinitis pigmentosa 3 10.2 RPGR RP9
6 mitochondrial dna-associated leigh syndrome 10.1 MT-TV MT-TK
7 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-TV MT-TK
8 retinitis pigmentosa 33 10.1 RP9 PRPF8 MT-TV
9 retinitis pigmentosa 36 10.1 MT-TV MT-TK
10 retinitis pigmentosa 32 10.1 MT-TV MT-TK
11 macular dystrophy, dominant cystoid 10.1 TULP1 RPGR
12 retinitis pigmentosa 19 10.1 RPGR RP9
13 retinitis pigmentosa 17 10.1 RPGR RP9
14 leber congenital amaurosis 10 10.1 TULP1 RPGR
15 retinitis pigmentosa 4 10.1 RPGR RP9
16 retinitis pigmentosa 6 10.0 RPGR RP9
17 leukorrhea 10.0 MT-TK MT-TG
18 leber congenital amaurosis 2 10.0 TULP1 RPGR
19 retinitis pigmentosa 10 10.0 RPGR RP9
20 retinitis pigmentosa 31 10.0 RPGR RP9 PRPF8
21 retinitis pigmentosa 18 10.0 RP9 PRPF8
22 retinitis pigmentosa 7 10.0 TULP1 RPGR RP9
23 retinitis pigmentosa 13 10.0 RPGR RP9 PRPF8
24 neuroretinitis 10.0
25 usher syndrome, type iiia 9.9 TULP1 RP9 PRPF8 CERKL
26 fasciolopsiasis 9.9 MT-TV MT-TT
27 retinitis pigmentosa 25 9.9 RPGR CERKL
28 gyrate atrophy of choroid and retina 9.9 RPGR RP9 CERKL
29 fundus albipunctatus 9.9 TULP1 RPGR CERKL
30 usher syndrome type 2 9.9 TULP1 RPGR CERKL
31 parkinson disease, mitochondrial 9.9 MT-TT MT-TK
32 retinitis pigmentosa 26 9.9 CERKL AQR
33 retinitis pigmentosa 22 9.8 MT-TV MT-TK AQR
34 stargardt disease 9.8 TULP1 RPGR PRPF8 CERKL
35 congenital stationary night blindness 9.8 TULP1 RPGR PRPF8 CERKL
36 retinitis pigmentosa 20 9.7 RPGR RP9 MT-TV MT-TK
37 retinal degeneration 9.7 TULP2 TULP1 RPGR CERKL
38 cone dystrophy 9.7 TULP1 RPGR CERKL
39 bardet-biedl syndrome 9.7 TULP1 RPGR PRPF8 CERKL
40 eye degenerative disease 9.7 TULP1 RPGR RP9 PRPF8 CERKL
41 retinal disease 9.7 TULP1 RPGR RP9 PRPF8 CERKL
42 contractural arachnodactyly, congenital 9.7 MT-TK MT-TG
43 usher syndrome 9.7 TULP1 RPGR RP9 PRPF8 CERKL
44 leber plus disease 9.6 TULP1 RPGR RP9 PRPF8 CERKL
45 dicrocoeliasis 9.6 MT-TT MT-TK MT-TG
46 fundus dystrophy 9.6 TULP1 RPGR RP9 PRPF8 CERKL
47 myasthenic syndrome, congenital, 10 9.6 MT-TT MT-TK MT-TG
48 mental retardation, autosomal dominant 30 9.5 MT-TV MT-TT MT-TK MT-TG
49 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 9.4 MT-TV MT-TT MT-TK MT-TG
50 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 MT-TV MT-TT MT-TK MT-TG

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 reduced visual acuity 31 very rare (1%) HP:0007663
3 nyctalopia 31 very rare (1%) HP:0000662
4 rod-cone dystrophy 31 very rare (1%) HP:0000510
5 posterior subcapsular cataract 31 very rare (1%) HP:0007787
6 undetectable electroretinogram 31 very rare (1%) HP:0000550
7 optic disc pallor 31 HP:0000543
8 constriction of peripheral visual field 31 HP:0001133
9 bone spicule pigmentation of the retina 31 HP:0007737
10 retinal arteriolar constriction 31 HP:0008043

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

600132 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 14

Search Clinical Trials , 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 29 TULP1

Anatomical Context for Retinitis Pigmentosa 14

MalaCards organs/tissues related to Retinitis Pigmentosa 14:

40
Retina, Eye, Bone, Brain, Monocytes

Publications for Retinitis Pigmentosa 14

Articles related to Retinitis Pigmentosa 14:

(show all 24)
# Title Authors PMID Year
1
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. 6 57 61
9462751 1998
2
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 6 57
17620573 2007
3
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 57 6
15557452 2004
4
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. 6 57
10440267 1999
5
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. 57 6
9462750 1998
6
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 57
22605927 2012
7
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 6
18055821 2007
8
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 6
15024725 2004
9
Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. 57
7987322 1994
10
Anterior chamber characteristics assessed by rotating Scheimpflug imaging in patients with retinitis pigmentosa. 61
31531546 2019
11
Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa. 61
30324448 2019
12
HIV-1 Nef CAWLEAQ motif: a regulator of monocytes invasion through ENO1 modulation. 61
29404888 2018
13
The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses. 61
26911694 2016
14
Proteomic profiling of SupT1 cells reveal modulation of host proteins by HIV-1 Nef variants. 61
25874870 2015
15
Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications. 61
24894580 2014
16
Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. 61
9521870 1998
17
Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. 61
9096357 1997
18
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. 61
8931576 1996
19
Cloning and characterisation of the gene encoding the ribosomal protein S5 (also known as rp14, S2, YS8) of Saccharomyces cerevisiae. 61
8524651 1995
20
Modulation of an inhibitory interneuron in the neural circuitry for the tail withdrawal reflex of Aplysia. 61
7608775 1995
21
Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. 61
2356700 1990
22
Characteristics of adherence to plastic tissue culture plates of coagulase-negative staphylococci exposed to subinhibitory concentrations of antimicrobial agents. 61
3335807 1988
23
A monoclonal antibody reactive with Marek's disease tumor-associated surface antigen. 61
6294177 1983
24
[Studies on the retinitis pigmentosa. 14. Degeneration and vitamin A]. 61
5892308 1964

Variations for Retinitis Pigmentosa 14

ClinVar genetic disease variations for Retinitis Pigmentosa 14:

6 (show all 12)
# 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 TULP1, IVS2DS, G-A, +1 SNV Pathogenic 7360 GRCh37:
GRCh38:
4 TULP1 TULP1, IVS14DS, G-A, +1 SNV Pathogenic 7361 GRCh37:
GRCh38:
5 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic 7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
6 TULP1 NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) SNV Pathogenic 7363 rs121909077 GRCh37: 6:35467809-35467809
GRCh38: 6:35500032-35500032
7 TULP1 NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) Deletion Pathogenic 7364 rs1581734819 GRCh37: 6:35466212-35466222
GRCh38: 6:35498435-35498445
8 TULP1 NM_003322.6(TULP1):c.718+2T>C SNV Pathogenic 7365 rs1581742970 GRCh37: 6:35477409-35477409
GRCh38: 6:35509632-35509632
9 TULP1 NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) SNV Pathogenic 828151 rs201070350 GRCh37: 6:35473878-35473878
GRCh38: 6:35506101-35506101
10 TULP1 NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) SNV Pathogenic 7358 rs121909074 GRCh37: 6:35467782-35467782
GRCh38: 6:35500005-35500005
11 TULP1 NM_003322.6(TULP1):c.1495+1G>A SNV Pathogenic 99665 rs281865168 GRCh37: 6:35467757-35467757
GRCh38: 6:35499980-35499980
12 PRPF8 NM_006445.4(PRPF8):c.5619+2T>C SNV Uncertain significance 932172 GRCh37: 17:1559940-1559940
GRCh38: 17:1656646-1656646

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

72
# 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

Pathways related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 MT-TV MT-TT MT-TK MT-TG

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 U2-type catalytic step 2 spliceosome GO:0071007 8.96 PRPF8 AQR
2 photoreceptor outer segment GO:0001750 8.8 TULP1 RPGR CERKL

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

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.33 RP9 PRPF8 AQR
2 visual perception GO:0007601 9.13 TULP2 TULP1 RPGR
3 protein localization to cilium GO:0061512 8.62 TULP2 TULP1

Sources for Retinitis Pigmentosa 14

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
Content
Loading form....