RP48
MCID: RTN147
MIFTS: 30

Retinitis Pigmentosa 48 (RP48)

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

Aliases & Classifications for Retinitis Pigmentosa 48

MalaCards integrated aliases for Retinitis Pigmentosa 48:

Name: Retinitis Pigmentosa 48 57 12 72 29 13 6 15 70
Rp48 57 12 72
Retinitis Pigmentosa, Type 48 39

Characteristics:

HPO:

31
retinitis pigmentosa 48:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110382
OMIM® 57 613827
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151190
UMLS 70 C3151190

Summaries for Retinitis Pigmentosa 48

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 48: 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 48, also known as rp48, is related to weaver syndrome and discharging ear. An important gene associated with Retinitis Pigmentosa 48 is GUCA1B (Guanylate Cyclase Activator 1B), and among its related pathways/superpathways are Allograft rejection and Tuberculosis. Affiliated tissues include eye and retina, and related phenotypes are visual impairment and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the GUCA1B gene on chromosome 6p21.1.

More information from OMIM: 613827 PS268000

Related Diseases for Retinitis Pigmentosa 48

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 48 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weaver syndrome 9.8 MTF2 EZH1
2 discharging ear 9.4 RFXAP RFXANK RFX5
3 bare lymphocyte syndrome, type i 9.4 RFXAP RFXANK RFX5
4 bare lymphocyte syndrome, type ii 9.4 RFXAP RFXANK RFX5
5 severe combined immunodeficiency 9.3 RFXAP RFXANK RFX5
6 combined immunodeficiency 9.3 RFXAP RFXANK RFX5
7 immune deficiency disease 9.1 RFXAP RFXANK RFX5

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 48:



Diseases related to Retinitis Pigmentosa 48

Symptoms & Phenotypes for Retinitis Pigmentosa 48

Human phenotypes related to Retinitis Pigmentosa 48:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 rod-cone dystrophy 31 HP:0000510
3 macular degeneration 31 HP:0000608

Clinical features from OMIM®:

613827 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 48

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 48

Genetic Tests for Retinitis Pigmentosa 48

Genetic tests related to Retinitis Pigmentosa 48:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 48 29 GUCA1B

Anatomical Context for Retinitis Pigmentosa 48

MalaCards organs/tissues related to Retinitis Pigmentosa 48:

40
Eye, Retina

Publications for Retinitis Pigmentosa 48

Articles related to Retinitis Pigmentosa 48:

# Title Authors PMID Year
1
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. 57 6
26161267 2015
2
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. 6 57
15452722 2005
3
Investigation of the potential of a 48 kDa protein as a vaccine candidate for infection against nontypable Haemophilus influenzae. 61
17379362 2007
4
Induction of leukemia cell differentiation and apoptosis by recombinant P48, a modulin derived from Mycoplasma fermentans. 61
10694514 2000

Variations for Retinitis Pigmentosa 48

ClinVar genetic disease variations for Retinitis Pigmentosa 48:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GUCA1B NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) SNV Uncertain significance 7369 rs121909124 GRCh37: 6:42153424-42153424
GRCh38: 6:42185686-42185686
2 GUCA1B NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) SNV Benign 100571 rs137853903 GRCh37: 6:42156424-42156424
GRCh38: 6:42188686-42188686

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 48:

72
# Symbol AA change Variation ID SNP ID
1 GUCA1B p.Gly157Arg VAR_065355 rs121909124

Expression for Retinitis Pigmentosa 48

Search GEO for disease gene expression data for Retinitis Pigmentosa 48.

Pathways for Retinitis Pigmentosa 48

Pathways related to Retinitis Pigmentosa 48 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 RFXAP RFXANK RFX5
2 11.59 RFXAP RFXANK RFX5
3 10.38 RFXAP RFXANK RFX5
4 10.19 MTF2 EZH1

GO Terms for Retinitis Pigmentosa 48

Cellular components related to Retinitis Pigmentosa 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ESC/E(Z) complex GO:0035098 8.96 MTF2 EZH1
2 RNA polymerase II transcription factor complex GO:0090575 8.8 RFXAP RFXANK RFX5

Biological processes related to Retinitis Pigmentosa 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.13 RFX5 MTF2 EZH1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.02 RFXAP RFXANK RFX5 MTF2 EZH1

Molecular functions related to Retinitis Pigmentosa 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.35 RFXAP RFXANK RFX5 MTF2 EZH1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.33 RFXAP RFXANK RFX5
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.92 RFXAP RFXANK RFX5 MTF2

Sources for Retinitis Pigmentosa 48

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
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