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 57 12 53 75 29 13 6 15 73
Rp14 57 12 75
Retinitis Pigmentosa Juvenile Tulp1-Related 75
Retinitis Pigmentosa, Type 14 40
Rp 14 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive (6p)


HPO:

32
retinitis pigmentosa 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600132
Disease Ontology 12 DOID:0110381
ICD10 33 H35.5
MedGen 42 C1838603
MeSH 44 D012174
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 C1838603

Summaries for Retinitis Pigmentosa 14

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Retinitis Pigmentosa 14 is TULP1 (Tubby Like Protein 1). The drugs Omalizumab and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is rod-cone dystrophy.

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 10.2 ENO1 TULP1
3 retinitis pigmentosa 9.9
4 leber congenital amaurosis 4 9.9
5 retinitis 9.9
6 brain injury 9.9 ENO1 S100B

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:

57
Eyes:
retinitis pigmentosa


Clinical features from OMIM:

600132

Human phenotypes related to Retinitis Pigmentosa 14:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 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
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
2
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
3
Metformin Approved Phase 3 657-24-9 14219 4091
4 Anti-Allergic Agents Phase 2, Phase 3
5 Anti-Asthmatic Agents Phase 2, Phase 3
6 Respiratory System Agents Phase 2, Phase 3
7 Hypoglycemic Agents Phase 3

Interventional clinical trials:


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

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 29 TULP1

Anatomical Context for Retinitis Pigmentosa 14

MalaCards organs/tissues related to Retinitis Pigmentosa 14:

41
Eye

Publications for Retinitis Pigmentosa 14

Variations for Retinitis Pigmentosa 14

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

75
# 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 18)
# 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
17 TULP1 NM_003322.5(TULP1): c.1496-6C> A single nucleotide variant Likely pathogenic rs281865171 GRCh37 Chromosome 6, 35466243: 35466243
18 TULP1 NM_003322.5(TULP1): c.1496-6C> A single nucleotide variant Likely pathogenic rs281865171 GRCh38 Chromosome 6, 35498466: 35498466

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 nucleus GO:0005634 9.9 ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA
2 extracellular exosome GO:0070062 9.56 ARHGDIA EIF5A ENO1 OTUB1 PPIA RPS14
3 cytosol GO:0005829 9.36 ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA

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 positive regulation of phagocytosis GO:0050766 9.32 TUB TULP1
3 protein localization to cilium GO:0061512 9.26 TUB TULP1
4 ribosomal small subunit assembly GO:0000028 9.16 RPS14 RPS5
5 protein localization to photoreceptor outer segment GO:1903546 8.96 TUB TULP1
6 receptor localization to non-motile cilium GO:0097500 8.62 TUB TULP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 ARHGDIA CTBP2 EIF5A ENO1 OTUB1 PPIA

Sources for Retinitis Pigmentosa 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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