RP41
MCID: RTN067
MIFTS: 31

Retinitis Pigmentosa 41 (RP41)

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

Aliases & Classifications for Retinitis Pigmentosa 41

MalaCards integrated aliases for Retinitis Pigmentosa 41:

Name: Retinitis Pigmentosa 41 57 12 20 72 29 13 6 15 70
Rp41 57 12 72
Retinal Degeneration, Autosomal Recessive, Prominin-Related 57 20
Retinal Degeneration Autosomal Recessive Prominin-Related 72
Retinitis Pigmentosa, Type 41 39
Rp 41 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 41:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110376
OMIM® 57 612095
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C2677516
UMLS 70 C2677516

Summaries for Retinitis Pigmentosa 41

UniProtKB/Swiss-Prot : 72 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 isolated macular dystrophy and stargardt disease. An important gene associated with Retinitis Pigmentosa 41 is PROM1 (Prominin 1). Affiliated tissues include eye, retina and bone, and related phenotypes are nyctalopia and rod-cone dystrophy

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

More information from OMIM: 612095 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
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 isolated macular dystrophy 9.9 PROM1 CERKL
2 stargardt disease 9.7 PROM1 CERKL
3 usher syndrome 9.7 PROM1 MIR4523 CERKL
4 retinitis pigmentosa 73 9.6 CERKL ARHGEF18
5 usher syndrome, type ig 8.9 MIR8085 MIR671 MIR4523 MIR3655 MIR3615 MIR3198-1
6 retinitis pigmentosa 27 8.7 MIR8085 MIR671 MIR4523 MIR3655 MIR3615 MIR3198-1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 41:



Diseases related to Retinitis Pigmentosa 41

Symptoms & Phenotypes for Retinitis Pigmentosa 41

Human phenotypes related to Retinitis Pigmentosa 41:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 macular degeneration 31 HP:0000608
4 peripheral visual field loss 31 HP:0007994
5 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 29 PROM1

Anatomical Context for Retinitis Pigmentosa 41

MalaCards organs/tissues related to Retinitis Pigmentosa 41:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 41

Articles related to Retinitis Pigmentosa 41:

(show all 11)
# Title Authors PMID Year
1
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. 6 57
17605048 2007
2
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. 57 6
10587575 2000
3
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. 61
31836589 2019
4
Efficiency of human Plasmodium falciparum malaria vaccine candidates in Aotus lemurinus monkeys. 61
1343722 1992
5
Isolation of cDNA clones encoding protein kinase C: evidence for a protein kinase C-related gene family. 61
3469647 1987
6
Studies on the mechanism of action of protein kinase C and the isolation of molecular clones encoding the enzyme. 61
3423468 1986
7
[Conjugation in Rhodopseudomonas sphaeroides mediated by R plasmids]. 61
6216140 1982
8
Activation of the alternative complement pathway by a streptococcal lipoteichoic acid. 61
365748 1978
9
F'-plasmid transfer from Escherichia coli to Pseudomonas fluorescens. 61
97267 1978
10
Induction of nephrocalcinosis in rabbit kidneys after long-term exposure to a streptococcal teichoic acid. 61
332635 1977
11
Effects of a streptococcal lipoteichoic acid on host responses in mice. 61
773834 1976

Variations for Retinitis Pigmentosa 41

ClinVar genetic disease variations for Retinitis Pigmentosa 41:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROM1 NM_006017.3(PROM1):c.1841del (p.Gly614fs) Deletion Pathogenic 5608 rs886037612 GRCh37: 4:15993941-15993941
GRCh38: 4:15992318-15992318
2 PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV Pathogenic 5609 rs137853005 GRCh37: 4:15995651-15995651
GRCh38: 4:15994028-15994028
3 PROM1 NM_006017.3(PROM1):c.1175_1176AT[1] (p.Ile393fs) Microsatellite Pathogenic 208605 rs746174328 GRCh37: 4:16010695-16010696
GRCh38: 4:16009072-16009073
4 PROM1 NM_006017.3(PROM1):c.869del (p.Ser290fs) Deletion Pathogenic 802055 rs1355802816 GRCh37: 4:16020079-16020079
GRCh38: 4:16018456-16018456
5 PROM1 NM_006017.3(PROM1):c.784+1G>A SNV Pathogenic 802056 rs745704627 GRCh37: 4:16024948-16024948
GRCh38: 4:16023325-16023325
6 PROM1 NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) SNV Pathogenic 802057 rs374017889 GRCh37: 4:16025960-16025960
GRCh38: 4:16024337-16024337
7 PROM1 NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) SNV Pathogenic 438214 rs780697796 GRCh37: 4:16035000-16035000
GRCh38: 4:16033377-16033377
8 PROM1 NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) Duplication Pathogenic 372711 rs543698823 GRCh37: 4:16008260-16008261
GRCh38: 4:16006637-16006638
9 PROM1 NM_006017.3(PROM1):c.1984-1G>T SNV Pathogenic 802053 rs373680665 GRCh37: 4:15991448-15991448
GRCh38: 4:15989825-15989825
10 PROM1 NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) SNV Pathogenic 634483 rs530749007 GRCh37: 4:15991381-15991381
GRCh38: 4:15989758-15989758
11 PROM1 NM_006017.3(PROM1):c.622del (p.Thr208fs) Deletion Likely pathogenic 402237 rs766246531 GRCh37: 4:16026823-16026823
GRCh38: 4:16025200-16025200
12 PROM1 NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) SNV Uncertain significance 560485 rs1231060253 GRCh37: 4:15982084-15982084
GRCh38: 4:15980461-15980461
13 PROM1 NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) SNV Uncertain significance 425331 rs761911901 GRCh37: 4:15992882-15992882
GRCh38: 4:15991259-15991259
14 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
15 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
16 PROM1 NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV Uncertain significance 236524 rs753308387 GRCh37: 4:16000058-16000058
GRCh38: 4:15998435-15998435
17 PROM1 NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) SNV Uncertain significance 802054 rs200507858 GRCh37: 4:15994002-15994002
GRCh38: 4:15992379-15992379

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 photoreceptor outer segment GO:0001750 8.62 PROM1 CERKL

Sources for Retinitis Pigmentosa 41

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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