RP41
MCID: RTN067
MIFTS: 32

Retinitis Pigmentosa 41 (RP41)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 41

MalaCards integrated aliases for Retinitis Pigmentosa 41:

Name: Retinitis Pigmentosa 41 58 12 54 76 30 13 6 15 74
Rp41 58 12 76
Retinal Degeneration, Autosomal Recessive, Prominin-Related 58 54
Retinal Degeneration Autosomal Recessive Prominin-Related 76
Retinitis Pigmentosa, Type 41 41
Rp 41 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
retinitis pigmentosa 41:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110376
OMIM 58 612095
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C2677516
UMLS 74 C2677516

Summaries for Retinitis Pigmentosa 41

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 41: 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 41, also known as rp41, is related to gastrointestinal system cancer and in situ pulmonary adenocarcinoma. An important gene associated with Retinitis Pigmentosa 41 is PROM1 (Prominin 1). Affiliated tissues include bone and eye, and related phenotypes are nyctalopia and macular degeneration

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PROM1 gene on chromosome 4p15.

Description from OMIM: 612095

Related Diseases for Retinitis Pigmentosa 41

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 41 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gastrointestinal system cancer 9.9 PROM1 S100A8
2 in situ pulmonary adenocarcinoma 9.7 PROM1 S100A9
3 crohn's disease 9.5 S100A8 S100A9

Symptoms & Phenotypes for Retinitis Pigmentosa 41

Human phenotypes related to Retinitis Pigmentosa 41:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 macular degeneration 33 HP:0000608
3 rod-cone dystrophy 33 HP:0000510
4 peripheral visual field loss 33 HP:0007994
5 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
macular degeneration
night blindness
loss of peripheral vision
bone-spicule pigment deposits, retinal
extinguished electroretinograms in second or third decade

Clinical features from OMIM:

612095

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 41 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased G1 length, increased G2 length GR00237-A 8.62 S100A8 S100A9

Drugs & Therapeutics for Retinitis Pigmentosa 41

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 41

Genetic Tests for Retinitis Pigmentosa 41

Genetic tests related to Retinitis Pigmentosa 41:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 41 30 PROM1

Anatomical Context for Retinitis Pigmentosa 41

MalaCards organs/tissues related to Retinitis Pigmentosa 41:

42
Bone, Eye

Publications for Retinitis Pigmentosa 41

Articles related to Retinitis Pigmentosa 41:

# Title Authors Year
1
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. ( 17605048 )
2007
2
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. ( 10587575 )
2000

Variations for Retinitis Pigmentosa 41

ClinVar genetic disease variations for Retinitis Pigmentosa 41:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1841delG (p.Gly614Glufs) deletion Pathogenic rs886037612 GRCh38 Chromosome 4, 15992318: 15992318
2 PROM1 NM_006017.2(PROM1): c.1841delG (p.Gly614Glufs) deletion Pathogenic rs886037612 GRCh37 Chromosome 4, 15993941: 15993941
3 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
4 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh38 Chromosome 4, 15994028: 15994028
5 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
6 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299
7 PROM1 NM_006017.2(PROM1): c.1557C> A (p.Tyr519Ter) single nucleotide variant Pathogenic rs137853907 GRCh37 Chromosome 4, 16002140: 16002140
8 PROM1 NM_006017.2(PROM1): c.1557C> A (p.Tyr519Ter) single nucleotide variant Pathogenic rs137853907 GRCh38 Chromosome 4, 16000517: 16000517
9 PROM1 NM_006017.2(PROM1): c.604C> G (p.Arg202Gly) single nucleotide variant Uncertain significance rs140872693 GRCh37 Chromosome 4, 16026841: 16026841
10 PROM1 NM_006017.2(PROM1): c.604C> G (p.Arg202Gly) single nucleotide variant Uncertain significance rs140872693 GRCh38 Chromosome 4, 16025218: 16025218
11 PROM1 NM_001145849.1(PROM1): c.1177_1178delAT (p.Ile393Argfs) deletion Pathogenic rs746174328 GRCh37 Chromosome 4, 16010695: 16010696
12 PROM1 NM_001145849.1(PROM1): c.1177_1178delAT (p.Ile393Argfs) deletion Pathogenic rs746174328 GRCh38 Chromosome 4, 16009072: 16009073
13 PROM1 NM_006017.2(PROM1): c.1632G> T (p.Gly544=) single nucleotide variant Uncertain significance rs753308387 GRCh37 Chromosome 4, 16000058: 16000058
14 PROM1 NM_006017.2(PROM1): c.1632G> T (p.Gly544=) single nucleotide variant Uncertain significance rs753308387 GRCh38 Chromosome 4, 15998435: 15998435
15 PROM1 NM_006017.2(PROM1): c.622delA (p.Thr208Leufs) deletion Likely pathogenic rs766246531 GRCh38 Chromosome 4, 16025200: 16025200
16 PROM1 NM_006017.2(PROM1): c.622delA (p.Thr208Leufs) deletion Likely pathogenic rs766246531 GRCh37 Chromosome 4, 16026823: 16026823
17 PROM1 NM_006017.2(PROM1): c.1946C> T (p.Ser649Leu) single nucleotide variant Uncertain significance rs761911901 GRCh37 Chromosome 4, 15992882: 15992882
18 PROM1 NM_006017.2(PROM1): c.1946C> T (p.Ser649Leu) single nucleotide variant Uncertain significance rs761911901 GRCh38 Chromosome 4, 15991259: 15991259
19 PROM1 NM_006017.2(PROM1): c.2450A> G (p.Lys817Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 15980461: 15980461
20 PROM1 NM_006017.2(PROM1): c.2450A> G (p.Lys817Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 15982084: 15982084

Expression for Retinitis Pigmentosa 41

Search GEO for disease gene expression data for Retinitis Pigmentosa 41.

Pathways for Retinitis Pigmentosa 41

GO Terms for Retinitis Pigmentosa 41

Cellular components related to Retinitis Pigmentosa 41 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.26 PROM1 S100A8 S100A9 SEC14L2
2 secretory granule lumen GO:0034774 8.62 S100A8 S100A9

Biological processes related to Retinitis Pigmentosa 41 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.58 S100A8 S100A9
2 chemotaxis GO:0006935 9.57 S100A8 S100A9
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.56 S100A8 S100A9
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.55 S100A8 S100A9
5 neutrophil chemotaxis GO:0030593 9.54 S100A8 S100A9
6 positive regulation of cell growth GO:0030307 9.52 S100A8 S100A9
7 positive regulation of inflammatory response GO:0050729 9.51 S100A8 S100A9
8 regulation of inflammatory response GO:0050727 9.49 S100A8 S100A9
9 antimicrobial humoral response GO:0019730 9.48 S100A8 S100A9
10 toll-like receptor signaling pathway GO:0002224 9.46 S100A8 S100A9
11 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.43 S100A8 S100A9
12 defense response to fungus GO:0050832 9.4 S100A8 S100A9
13 cytokine production GO:0001816 9.37 S100A8 S100A9
14 regulation of cytoskeleton organization GO:0051493 9.32 S100A8 S100A9
15 leukocyte migration involved in inflammatory response GO:0002523 9.26 S100A8 S100A9
16 sequestering of zinc ion GO:0032119 9.16 S100A8 S100A9
17 chemokine production GO:0032602 8.96 S100A8 S100A9
18 neutrophil aggregation GO:0070488 8.62 S100A8 S100A9

Molecular functions related to Retinitis Pigmentosa 41 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RAGE receptor binding GO:0050786 9.16 S100A8 S100A9
2 arachidonic acid binding GO:0050544 8.96 S100A8 S100A9
3 Toll-like receptor 4 binding GO:0035662 8.62 S100A8 S100A9

Sources for Retinitis Pigmentosa 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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