MCID: RTN066
MIFTS: 28

Retinitis Pigmentosa 4

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 4

MalaCards integrated aliases for Retinitis Pigmentosa 4:

Name: Retinitis Pigmentosa 4 57 12 53 75 29 6 15 73
Rp4 57 12 75
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 57 13
Retinitis Pigmentosa, Rhodopsin-Related 57
Retinitis Pigmentosa, Type 4 40
Rp 4 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
mild asymmetric regional disease (e.g. )
onset in first decade (e.g. )


HPO:

32

Classifications:



External Ids:

OMIM 57 613731
Disease Ontology 12 DOID:0110372
ICD10 33 H35.5
MedGen 42 C3151001
MeSH 44 D012174
UMLS 73 C3151001

Summaries for Retinitis Pigmentosa 4

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 4: 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 4, also known as rp4, is related to retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 4 is RHO (Rhodopsin). Affiliated tissues include eye, and related phenotypes are rod-cone dystrophy and abnormal electroretinogram

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RHO gene on chromosome 3q22.

Description from OMIM: 613731

Related Diseases for Retinitis Pigmentosa 4

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 9.8
2 leber congenital amaurosis 4 9.8
3 retinitis 9.8

Symptoms & Phenotypes for Retinitis Pigmentosa 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa
pigmentary retinopathy
abnormal electroretinograms in heterozygotes
inferior and inferonasal retinal pigmentation (e.g. )
superior hemisphere field impairment (e.g. )
more

Clinical features from OMIM:

613731

Human phenotypes related to Retinitis Pigmentosa 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 abnormal electroretinogram 32 HP:0000512
3 cataract 32 HP:0000518
4 pigmentary retinopathy 32 HP:0000580
5 nyctalopia 32 HP:0000662
6 visual field defect 32 HP:0001123

Drugs & Therapeutics for Retinitis Pigmentosa 4

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 4

Genetic Tests for Retinitis Pigmentosa 4

Genetic tests related to Retinitis Pigmentosa 4:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 4 29 RHO

Anatomical Context for Retinitis Pigmentosa 4

MalaCards organs/tissues related to Retinitis Pigmentosa 4:

41
Eye

Publications for Retinitis Pigmentosa 4

Articles related to Retinitis Pigmentosa 4:

# Title Authors Year
1
Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up. ( 22899761 )
2012

Variations for Retinitis Pigmentosa 4

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 4:

75 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 RHO p.Thr4Lys VAR_004765
2 RHO p.Asn15Ser VAR_004766 rs104893786
3 RHO p.Thr17Met VAR_004767 rs104893769
4 RHO p.Pro23His VAR_004768 rs104893768
5 RHO p.Pro23Leu VAR_004769
6 RHO p.Gln28His VAR_004770
7 RHO p.Leu40Arg VAR_004771
8 RHO p.Met44Thr VAR_004772 rs774336493
9 RHO p.Phe45Leu VAR_004773 rs104893770
10 RHO p.Leu46Arg VAR_004774
11 RHO p.Gly51Arg VAR_004776 rs104893792
12 RHO p.Gly51Val VAR_004777
13 RHO p.Pro53Arg VAR_004778 rs28933395
14 RHO p.Thr58Arg VAR_004779 rs28933394
15 RHO p.Val87Asp VAR_004781 rs104893771
16 RHO p.Gly89Asp VAR_004782 rs104893772
17 RHO p.Gly106Arg VAR_004786 rs104893773
18 RHO p.Gly106Trp VAR_004787 rs104893773
19 RHO p.Gly109Arg VAR_004788
20 RHO p.Cys110Phe VAR_004789
21 RHO p.Cys110Tyr VAR_004790 rs104893787
22 RHO p.Gly114Asp VAR_004791 rs104893788
23 RHO p.Leu125Arg VAR_004792
24 RHO p.Ser127Phe VAR_004793
25 RHO p.Leu131Pro VAR_004794
26 RHO p.Arg135Gly VAR_004795
27 RHO p.Arg135Leu VAR_004796 rs104893774
28 RHO p.Arg135Trp VAR_004797 rs104893775
29 RHO p.Cys140Ser VAR_004798
30 RHO p.Glu150Lys VAR_004799 rs104893791
31 RHO p.Ala164Glu VAR_004800 rs104893793
32 RHO p.Ala164Val VAR_004801 rs104893793
33 RHO p.Cys167Arg VAR_004802
34 RHO p.Pro171Leu VAR_004803
35 RHO p.Pro171Gln VAR_004804
36 RHO p.Pro171Ser VAR_004805 rs104893794
37 RHO p.Tyr178Cys VAR_004806 rs104893776
38 RHO p.Tyr178Asn VAR_004807
39 RHO p.Glu181Lys VAR_004808 rs775557680
40 RHO p.Gly182Ser VAR_004809 rs104893780
41 RHO p.Ser186Pro VAR_004810
42 RHO p.Gly188Glu VAR_004811
43 RHO p.Gly188Arg VAR_004812 rs527236100
44 RHO p.Asp190Asn VAR_004813 rs104893779
45 RHO p.Asp190Gly VAR_004814 rs104893777
46 RHO p.Asp190Tyr VAR_004815 rs104893779
47 RHO p.Met207Arg VAR_004816 rs104893782
48 RHO p.His211Pro VAR_004818 rs28933993
49 RHO p.His211Arg VAR_004819
50 RHO p.Met216Lys VAR_004820

ClinVar genetic disease variations for Retinitis Pigmentosa 4:

6
(show top 50) (show all 75)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHO NM_000539.3(RHO): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs104893778 GRCh37 Chromosome 3, 129252544: 129252544
2 RHO NM_000539.3(RHO): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs104893778 GRCh38 Chromosome 3, 129533701: 129533701
3 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 GRCh37 Chromosome 3, 129247644: 129247644
4 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 GRCh38 Chromosome 3, 129528801: 129528801
5 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
6 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
7 RHO NM_000539.3(RHO): c.1039C> T (p.Pro347Ser) single nucleotide variant Pathogenic rs29001637 GRCh37 Chromosome 3, 129252553: 129252553
8 RHO NM_000539.3(RHO): c.1039C> T (p.Pro347Ser) single nucleotide variant Pathogenic rs29001637 GRCh38 Chromosome 3, 129533710: 129533710
9 RHO NM_000539.3(RHO): c.173C> G (p.Thr58Arg) single nucleotide variant Pathogenic rs28933394 GRCh37 Chromosome 3, 129247749: 129247749
10 RHO NM_000539.3(RHO): c.173C> G (p.Thr58Arg) single nucleotide variant Pathogenic rs28933394 GRCh38 Chromosome 3, 129528906: 129528906
11 RHO RHO, 3-BP DEL, ILE255DEL deletion Pathogenic
12 RHO NM_000539.3(RHO): c.50C> T (p.Thr17Met) single nucleotide variant Pathogenic rs104893769 GRCh37 Chromosome 3, 129247626: 129247626
13 RHO NM_000539.3(RHO): c.50C> T (p.Thr17Met) single nucleotide variant Pathogenic rs104893769 GRCh38 Chromosome 3, 129528783: 129528783
14 RHO NM_000539.3(RHO): c.133T> C (p.Phe45Leu) single nucleotide variant Pathogenic rs104893770 GRCh37 Chromosome 3, 129247709: 129247709
15 RHO NM_000539.3(RHO): c.133T> C (p.Phe45Leu) single nucleotide variant Pathogenic rs104893770 GRCh38 Chromosome 3, 129528866: 129528866
16 RHO NM_000539.3(RHO): c.260T> A (p.Val87Asp) single nucleotide variant Pathogenic rs104893771 GRCh37 Chromosome 3, 129247836: 129247836
17 RHO NM_000539.3(RHO): c.260T> A (p.Val87Asp) single nucleotide variant Pathogenic rs104893771 GRCh38 Chromosome 3, 129528993: 129528993
18 RHO NM_000539.3(RHO): c.266G> A (p.Gly89Asp) single nucleotide variant Pathogenic rs104893772 GRCh37 Chromosome 3, 129247842: 129247842
19 RHO NM_000539.3(RHO): c.266G> A (p.Gly89Asp) single nucleotide variant Pathogenic rs104893772 GRCh38 Chromosome 3, 129528999: 129528999
20 RHO NM_000539.3(RHO): c.316G> T (p.Gly106Trp) single nucleotide variant Pathogenic rs104893773 GRCh37 Chromosome 3, 129247892: 129247892
21 RHO NM_000539.3(RHO): c.316G> T (p.Gly106Trp) single nucleotide variant Pathogenic rs104893773 GRCh38 Chromosome 3, 129529049: 129529049
22 RHO NM_000539.3(RHO): c.568G> A (p.Asp190Asn) single nucleotide variant Pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131
23 RHO NM_000539.3(RHO): c.568G> A (p.Asp190Asn) single nucleotide variant Pathogenic rs104893779 GRCh38 Chromosome 3, 129532288: 129532288
24 RHO NM_000539.3(RHO): c.404G> T (p.Arg135Leu) single nucleotide variant Pathogenic rs104893774 GRCh37 Chromosome 3, 129249761: 129249761
25 RHO NM_000539.3(RHO): c.404G> T (p.Arg135Leu) single nucleotide variant Pathogenic rs104893774 GRCh38 Chromosome 3, 129530918: 129530918
26 RHO NM_000539.3(RHO): c.533A> G (p.Tyr178Cys) single nucleotide variant Pathogenic rs104893776 GRCh37 Chromosome 3, 129251096: 129251096
27 RHO NM_000539.3(RHO): c.533A> G (p.Tyr178Cys) single nucleotide variant Pathogenic rs104893776 GRCh38 Chromosome 3, 129532253: 129532253
28 RHO NM_000539.3(RHO): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104893777 GRCh37 Chromosome 3, 129251132: 129251132
29 RHO NM_000539.3(RHO): c.569A> G (p.Asp190Gly) single nucleotide variant Pathogenic rs104893777 GRCh38 Chromosome 3, 129532289: 129532289
30 RHO NM_000539.3(RHO): c.632A> C (p.His211Pro) single nucleotide variant Pathogenic rs28933993 GRCh37 Chromosome 3, 129251195: 129251195
31 RHO NM_000539.3(RHO): c.632A> C (p.His211Pro) single nucleotide variant Pathogenic rs28933993 GRCh38 Chromosome 3, 129532352: 129532352
32 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
33 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh38 Chromosome 3, 129530917: 129530917
34 RHO NM_000539.3(RHO): c.886A> G (p.Lys296Glu) single nucleotide variant Pathogenic rs29001653 GRCh37 Chromosome 3, 129251565: 129251565
35 RHO NM_000539.3(RHO): c.886A> G (p.Lys296Glu) single nucleotide variant Pathogenic rs29001653 GRCh38 Chromosome 3, 129532722: 129532722
36 RHO RHO, 12-BP DEL, EX1 deletion Pathogenic
37 RHO NM_000539.3(RHO): c.1040C> G (p.Pro347Arg) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
38 RHO NM_000539.3(RHO): c.1040C> G (p.Pro347Arg) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
39 RHO NM_000539.3(RHO): c.544G> A (p.Gly182Ser) single nucleotide variant Pathogenic rs104893780 GRCh37 Chromosome 3, 129251107: 129251107
40 RHO NM_000539.3(RHO): c.544G> A (p.Gly182Ser) single nucleotide variant Pathogenic rs104893780 GRCh38 Chromosome 3, 129532264: 129532264
41 RHO NM_000539.3(RHO): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs104893781 GRCh37 Chromosome 3, 129251479: 129251479
42 RHO NM_000539.3(RHO): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs104893781 GRCh38 Chromosome 3, 129532636: 129532636
43 RHO NM_000539.3(RHO): c.329G> A (p.Cys110Tyr) single nucleotide variant Pathogenic rs104893787 GRCh37 Chromosome 3, 129247905: 129247905
44 RHO NM_000539.3(RHO): c.329G> A (p.Cys110Tyr) single nucleotide variant Pathogenic rs104893787 GRCh38 Chromosome 3, 129529062: 129529062
45 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh37 Chromosome 3, 129247734: 129247734
46 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh38 Chromosome 3, 129528891: 129528891
47 RHO NM_000539.3(RHO): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104893773 GRCh37 Chromosome 3, 129247892: 129247892
48 RHO NM_000539.3(RHO): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104893773 GRCh38 Chromosome 3, 129529049: 129529049
49 RHO RHO, IVS4AS, G-T, +1 single nucleotide variant Pathogenic
50 RHO NM_000539.3(RHO): c.568G> T (p.Asp190Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131

Expression for Retinitis Pigmentosa 4

Search GEO for disease gene expression data for Retinitis Pigmentosa 4.

Pathways for Retinitis Pigmentosa 4

GO Terms for Retinitis Pigmentosa 4

Sources for Retinitis Pigmentosa 4

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17 ExPASy
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69 SNOMED-CT via HPO
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