MCID: RTN044
MIFTS: 31

Retinitis Pigmentosa 14

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 14

MalaCards integrated aliases for Retinitis Pigmentosa 14:

Name: Retinitis Pigmentosa 14 53 12 49 71 28 13 14 69
Rp14 53 12 71
Retinitis Pigmentosa Juvenile Tulp1-Related 71
Rp 14 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive (6p)


HPO:

31
retinitis pigmentosa 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 600132
Disease Ontology 12 DOID:0110381
ICD10 32 H35.5
MedGen 39 C1838603
MeSH 41 D012174
SNOMED-CT via HPO 65 258211005 28835009
UMLS 69 C1838603

Summaries for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot : 71 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 cancer-associated retinopathy, and has symptoms including rod-cone dystrophy An important gene associated with Retinitis Pigmentosa 14 is TULP1 (Tubby Like Protein 1). The drugs Metformin and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include eye.

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 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 11.0
2 cancer-associated retinopathy 10.1 ENO1 TULP1
3 brain injury 9.9 ENO1 S100B
4 retinitis pigmentosa 9.9
5 leber congenital amaurosis 4 9.9
6 retinitis 9.9

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



Diseases related to Retinitis Pigmentosa 14

Symptoms & Phenotypes for Retinitis Pigmentosa 14

Symptoms via clinical synopsis from OMIM:

53
Eyes:
retinitis pigmentosa


Clinical features from OMIM:

600132

Human phenotypes related to Retinitis Pigmentosa 14:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510

Drugs & Therapeutics for Retinitis Pigmentosa 14

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 3 657-24-9 4091 14219
2
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
3
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
4 Hypoglycemic Agents Phase 3
5 Anti-Allergic Agents Phase 2, Phase 3
6 Anti-Asthmatic Agents Phase 2, Phase 3
7 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 Recruiting 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 Recruiting 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 28 TULP1

Anatomical Context for Retinitis Pigmentosa 14

MalaCards organs/tissues related to Retinitis Pigmentosa 14:

38
Eye

Publications for Retinitis Pigmentosa 14

Articles related to Retinitis Pigmentosa 14:

# Title Authors Year
1
Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. ( 9521870 )
1998

Variations for Retinitis Pigmentosa 14

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

71
# 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 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 TULP1 NM_003322.5(TULP1): c.1495+1G> A single nucleotide variant Pathogenic rs281865168 GRCh37 Chromosome 6, 35467757: 35467757
2 TULP1 NM_003322.5(TULP1): c.1496-6C> A single nucleotide variant Likely pathogenic rs281865171 GRCh37 Chromosome 6, 35466243: 35466243
3 TULP1 NM_003322.5(TULP1): c.1259G> C (p.Arg420Pro) single nucleotide variant Pathogenic rs121909073 GRCh37 Chromosome 6, 35471400: 35471400
4 TULP1 NM_003322.5(TULP1): c.1471T> C (p.Phe491Leu) single nucleotide variant Pathogenic rs121909074 GRCh37 Chromosome 6, 35467782: 35467782
5 TULP1 NM_003322.5(TULP1): c.1376T> A (p.Ile459Lys) single nucleotide variant Pathogenic rs121909075 GRCh37 Chromosome 6, 35467877: 35467877
6 TULP1 TULP1, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
7 TULP1 TULP1, IVS14DS, G-A, +1 single nucleotide variant Pathogenic
8 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh37 Chromosome 6, 35471593: 35471593
9 TULP1 NM_003322.5(TULP1): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs121909077 GRCh37 Chromosome 6, 35467809: 35467809
10 TULP1 TULP1, 11-BP DEL, NT1511 deletion Pathogenic
11 TULP1 TULP1, IVS7DS, T-C, +2 single nucleotide variant Pathogenic

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 extracellular exosome GO:0070062 9.56 ARHGDIA EIF5A ENO1 OTUB1 PPIA RPS14
2 cytosol GO:0005829 9.36 ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA
3 cytosolic small ribosomal subunit GO:0022627 9.16 RPS14 RPS5

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 9.32 TUB TULP1
2 positive regulation of phagocytosis GO:0050766 9.26 TUB TULP1
3 ribosomal small subunit assembly GO:0000028 9.16 RPS14 RPS5
4 protein localization to photoreceptor outer segment GO:1903546 8.96 TUB TULP1
5 receptor localization to non-motile cilium GO:0097500 8.62 TUB TULP1

Sources for Retinitis Pigmentosa 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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