MCID: RTN069
MIFTS: 38

Retinitis Pigmentosa 7

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 7

MalaCards integrated aliases for Retinitis Pigmentosa 7:

Name: Retinitis Pigmentosa 7 53 12 49 71 28 13 14 69
Retinitis Pigmentosa 7, Digenic 53 28 13
Leber Congenital Amaurosis 18 53 71 28
Rp7 53 12 71
Retinitis Pigmentosa 7 and Digenic 53
Retinitis Pigmentosa 7 Digenic 71
Lca18 71
Rp 7 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
homozygous patients have earlier-onset and more severe disease


HPO:

31

Classifications:



Summaries for Retinitis Pigmentosa 7

UniProtKB/Swiss-Prot : 71 Leber congenital amaurosis 18: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. Retinitis pigmentosa 7: 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 7, also known as retinitis pigmentosa 7, digenic, is related to cone-rod dystrophy 7 and butterfly-shaped pigment dystrophy, and has symptoms including abnormal electroretinogram, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 7 is PRPH2 (Peripherin 2). Affiliated tissues include retina, bone and eye.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.

Description from OMIM: 608133

Related Diseases for Retinitis Pigmentosa 7

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 7 11.1
2 butterfly-shaped pigment dystrophy 10.5 PRPH2 ROM1
3 stargardt macular degeneration 10.5 PRPH2 RHO
4 retinitis pigmentosa 6 10.4 RHO RP9
5 retinitis pigmentosa 10 10.4 RHO RP9
6 stargardt disease 1 10.4 RHO ROM1
7 congenital granular cell tumor 10.4 LYZ SERPINA1
8 retinitis pigmentosa 1 10.4 PRPH2 RHO
9 adult xanthogranuloma 10.4 LYZ SERPINA1
10 al amyloidosis 10.3 LYZ TTR
11 meningococcal infection 10.3 ROM1 TTR
12 cutaneous solitary mastocytoma 10.3 LYZ SERPINA1
13 vitelliform macular dystrophy 10.3 PRPH2 ROM1
14 rhyns syndrome 10.3 PRPH2 RHO ROM1
15 diffuse glomerulonephritis 10.3 B2M LYZ
16 reticulohistiocytic granuloma 10.3 LYZ SERPINA1
17 retinal disease 10.3 PRPH2 RHO ROM1
18 fundus dystrophy 10.2 PRPH2 RHO ROM1
19 tibial neuropathy 10.2 B2M TTR
20 tarsal tunnel syndrome 10.2 B2M TTR
21 in situ pulmonary adenocarcinoma 10.2 LYZ SERPINA1
22 retinitis 10.2 PRPH2 RHO RP9
23 pyelitis 10.2 B2M LYZ
24 retinal degeneration 10.2 PRPH2 RHO ROM1
25 renal tuberculosis 10.2 B2M LYZ
26 amyloidosis aa 10.2 B2M TTR
27 nerve compression syndrome 10.2 B2M TTR
28 amyloid tumor 10.2 B2M TTR
29 marasmus 10.2 TF TTR
30 kwashiorkor 10.2 TF TTR
31 ancylostomiasis 10.2 SERPINA1 TF
32 nodular nonsuppurative panniculitis 10.2 LYZ SERPINA1
33 congenital disorder of glycosylation, type ii 10.2 SERPINA1 TF
34 peripheral retinal degeneration 10.1 PRPH2 ROM1 TF
35 epileptic encephalopathy, early infantile, 36 10.1 SERPINA1 TF
36 siderosis 10.1 SERPINA1 TF
37 analbuminemia 10.1 TF TTR
38 dysentery 10.0 TF TTR
39 hereditary amyloidosis 10.0 B2M LYZ TTR
40 amyloidosis, familial visceral 10.0 B2M LYZ TTR
41 amyloidosis 10.0 B2M LYZ TTR
42 keratomalacia 10.0 RHO TF TTR
43 protein-energy malnutrition 10.0 TF TTR
44 fructose intolerance, hereditary 10.0 SERPINA1 TF
45 testicular yolk sac tumor 9.9 SERPINA1 TF TTR
46 urinary system disease 9.9 B2M LYZ TF
47 hemochromatosis, type 1 9.9 B2M SERPINA1 TF
48 median rhomboid glossitis 9.9 B2M TF TTR
49 chronic kidney failure 9.9 B2M TF TTR
50 vernal conjunctivitis 9.9 B2M TF

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 7:



Diseases related to Retinitis Pigmentosa 7

Symptoms & Phenotypes for Retinitis Pigmentosa 7

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
constricted visual fields
narrowed vessels
bone-spicule pigmentation in midperiphery of retina
pigment deposits in macular region
more

Clinical features from OMIM:

608133

Human phenotypes related to Retinitis Pigmentosa 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 31 HP:0000512
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 pigmentary retinopathy 31 HP:0000580
5 chorioretinal atrophy 31 occasional (7.5%) HP:0000533
6 attenuation of retinal blood vessels 31 HP:0007843
7 constriction of peripheral visual field 31 HP:0001133
8 adult-onset night blindness 31 HP:0007830

Drugs & Therapeutics for Retinitis Pigmentosa 7

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 7

Genetic Tests for Retinitis Pigmentosa 7

Genetic tests related to Retinitis Pigmentosa 7:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 7 28 PRPH2 ROM1
2 Retinitis Pigmentosa 7, Digenic 28
3 Leber Congenital Amaurosis 18 28

Anatomical Context for Retinitis Pigmentosa 7

MalaCards organs/tissues related to Retinitis Pigmentosa 7:

38
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 7

Variations for Retinitis Pigmentosa 7

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 7:

71 (show all 25)
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Arg13Trp VAR_006853
2 PRPH2 p.Leu45Phe VAR_006855 rs61755770
3 PRPH2 p.Leu126Arg VAR_006859
4 PRPH2 p.Arg142Trp VAR_006860
5 PRPH2 p.Lys153Arg VAR_006861
6 PRPH2 p.Cys165Tyr VAR_006864
7 PRPH2 p.Asp173Val VAR_006869
8 PRPH2 p.Leu185Pro VAR_006871
9 PRPH2 p.Gly208Asp VAR_006873
10 PRPH2 p.Pro210Arg VAR_006874
11 PRPH2 p.Pro210Ser VAR_006875
12 PRPH2 p.Phe211Leu VAR_006876
13 PRPH2 p.Ser212Gly VAR_006877
14 PRPH2 p.Cys214Ser VAR_006880
15 PRPH2 p.Pro216Leu VAR_006881
16 PRPH2 p.Pro216Ser VAR_006882
17 PRPH2 p.Asn244Lys VAR_006887
18 PRPH2 p.Gly266Asp VAR_006889
19 PRPH2 p.Leu126Pro VAR_075759
20 PRPH2 p.Tyr141Cys VAR_075761
21 PRPH2 p.Ser198Arg VAR_075762
22 PRPH2 p.Pro210Leu VAR_075764
23 PRPH2 p.Pro216Ala VAR_075765
24 PRPH2 p.Pro216Arg VAR_075766
25 PRPH2 p.Gly249Ser VAR_075768

ClinVar genetic disease variations for Retinitis Pigmentosa 7:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROM1 ROM1, 1-BP INS, 80G insertion Pathogenic
2 ROM1 ROM1, 1-BP INS, 114G insertion Pathogenic
3 PRPH2 NM_000322.4(PRPH2): c.356_358delGCT (p.Cys119del) deletion Pathogenic rs61755777 GRCh37 Chromosome 6, 42689715: 42689717
4 PRPH2 NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu) single nucleotide variant Pathogenic rs61755806 GRCh37 Chromosome 6, 42672284: 42672284
5 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh37 Chromosome 6, 42689519: 42689519
6 PRPH2 NM_000322.4(PRPH2): c.732C> A (p.Asn244Lys) single nucleotide variant Pathogenic rs61755816 GRCh37 Chromosome 6, 42672199: 42672199
7 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh38 Chromosome 6, 42721872: 42721874
8 PRPH2 NM_000322.4(PRPH2): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs61755771 GRCh37 Chromosome 6, 42689937: 42689937
9 PRPH2 PRPH2, 1-BP DEL, 1160T deletion Pathogenic
10 PRPH2 NM_000322.4(PRPH2): c.518A> T (p.Asp173Val) single nucleotide variant Pathogenic rs61755794 GRCh37 Chromosome 6, 42689555: 42689555
11 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh37 Chromosome 6, 42672294: 42672294
12 PRPH2 NM_000322.4(PRPH2): c.656_658delCAC (p.Pro219del) deletion Pathogenic rs61755807 GRCh37 Chromosome 6, 42672273: 42672275
13 PRPH2 NM_000322.4(PRPH2): c.828+3A> T single nucleotide variant Pathogenic rs281865373 GRCh37 Chromosome 6, 42672100: 42672100

Expression for Retinitis Pigmentosa 7

Search GEO for disease gene expression data for Retinitis Pigmentosa 7.

Pathways for Retinitis Pigmentosa 7

GO Terms for Retinitis Pigmentosa 7

Cellular components related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment membrane GO:0042622 8.96 RHO ROM1
2 HFE-transferrin receptor complex GO:1990712 8.62 B2M TF

Biological processes related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.58 PRPH2 RHO ROM1
2 neutrophil degranulation GO:0043312 9.55 ADAM8 B2M LYZ SERPINA1 TTR
3 iron ion homeostasis GO:0055072 9.43 B2M TF
4 positive regulation of receptor-mediated endocytosis GO:0048260 9.37 B2M TF
5 iron ion transport GO:0006826 9.32 B2M TF
6 cellular response to iron ion GO:0071281 9.26 B2M TF
7 retina homeostasis GO:0001895 9.13 B2M LYZ TF
8 cellular protein metabolic process GO:0044267 9.02 B2M LYZ SERPINA1 TF TTR

Molecular functions related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 B2M LYZ NUTF2 SERPINA1 TTR

Sources for Retinitis Pigmentosa 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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