MCID: RTN067
MIFTS: 23

Retinitis Pigmentosa 41

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 41

MalaCards integrated aliases for Retinitis Pigmentosa 41:

Name: Retinitis Pigmentosa 41 57 12 53 75 29 13 6 15 73
Rp41 57 12 75
Retinal Degeneration, Autosomal Recessive, Prominin-Related 57 53
Retinal Degeneration Autosomal Recessive Prominin-Related 75
Retinitis Pigmentosa, Type 41 40
Rp 41 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa 41:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612095
Disease Ontology 12 DOID:0110376
ICD10 33 H35.5
MedGen 42 C2677516
MeSH 44 D012174
UMLS 73 C2677516

Summaries for Retinitis Pigmentosa 41

UniProtKB/Swiss-Prot : 75 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, is also known as rp41. An important gene associated with Retinitis Pigmentosa 41 is PROM1 (Prominin 1). Affiliated tissues include bone and eye, and related phenotypes are rod-cone dystrophy and undetectable electroretinogram

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 41

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness
loss of peripheral vision
bone-spicule pigment deposits, retinal
macular degeneration
extinguished electroretinograms in second or third decade


Clinical features from OMIM:

612095

Human phenotypes related to Retinitis Pigmentosa 41:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 undetectable electroretinogram 32 HP:0000550
3 macular degeneration 32 HP:0000608
4 nyctalopia 32 HP:0000662
5 peripheral visual field loss 32 HP:0007994

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:

41
Bone, Eye

Publications for Retinitis Pigmentosa 41

Variations for Retinitis Pigmentosa 41

ClinVar genetic disease variations for Retinitis Pigmentosa 41:

6
(show all 14)
# 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_001145849.1(PROM1): c.1177_1178delAT (p.Ile393Argfs) deletion Pathogenic rs746174328 GRCh37 Chromosome 4, 16010695: 16010696
10 PROM1 NM_001145849.1(PROM1): c.1177_1178delAT (p.Ile393Argfs) deletion Pathogenic rs746174328 GRCh38 Chromosome 4, 16009072: 16009073
11 PROM1 NM_006017.2(PROM1): c.622delA (p.Thr208Leufs) deletion Likely pathogenic rs766246531 GRCh38 Chromosome 4, 16025200: 16025200
12 PROM1 NM_006017.2(PROM1): c.622delA (p.Thr208Leufs) deletion Likely pathogenic rs766246531 GRCh37 Chromosome 4, 16026823: 16026823
13 PROM1 NM_006017.2(PROM1): c.1234delT (p.Tyr412Metfs) deletion Pathogenic GRCh37 Chromosome 4, 16010639: 16010639
14 PROM1 NM_006017.2(PROM1): c.1234delT (p.Tyr412Metfs) deletion Pathogenic GRCh38 Chromosome 4, 16009016: 16009016

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

Sources for Retinitis Pigmentosa 41

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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