MCID: RTN147
MIFTS: 26

Retinitis Pigmentosa 48

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 48

MalaCards integrated aliases for Retinitis Pigmentosa 48:

Name: Retinitis Pigmentosa 48 57 12 75 29 13 6 15 73
Rp48 57 12 75
Retinitis Pigmentosa, Type 48 40

Characteristics:

HPO:

32
retinitis pigmentosa 48:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613827
Disease Ontology 12 DOID:0110382
ICD10 33 H35.5
MedGen 42 C3151190
MeSH 44 D012174
UMLS 73 C3151190

Summaries for Retinitis Pigmentosa 48

UniProtKB/Swiss-Prot : 75 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 focal chorioretinitis and chorioretinitis. An important gene associated with Retinitis Pigmentosa 48 is GUCA1B (Guanylate Cyclase Activator 1B), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, 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.

Description from OMIM: 613827

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 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 focal chorioretinitis 9.5 CD40LG SAG
2 chorioretinitis 9.4 CD40LG SAG
3 panuveitis 9.3 CD40LG SAG
4 behcet syndrome 9.2 CD40LG SAG
5 ewing sarcoma 9.0 CD40LG SAG

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



Diseases related to Retinitis Pigmentosa 48

Symptoms & Phenotypes for Retinitis Pigmentosa 48

Clinical features from OMIM:

613827

Human phenotypes related to Retinitis Pigmentosa 48:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510

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:

41
Eye

Publications for Retinitis Pigmentosa 48

Variations for Retinitis Pigmentosa 48

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

75
# 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

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 photoreceptor inner segment GO:0001917 8.62 GUCA1B SAG

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

# Name GO ID Score Top Affiliating Genes
1 regulation of rhodopsin mediated signaling pathway GO:0022400 8.62 GUCA1B SAG

Sources for Retinitis Pigmentosa 48

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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