MCID: RTN069
MIFTS: 37

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 57 12 53 75 29 13 6 15 73
Retinitis Pigmentosa 7, Digenic 57 29 13 6
Leber Congenital Amaurosis 18 57 75 29 6
Rp7 57 12 75
Retinitis Pigmentosa 7 and Digenic 57
Retinitis Pigmentosa 7 Digenic 75
Lca18 75
Rp 7 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

32

Classifications:



Summaries for Retinitis Pigmentosa 7

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Retinitis Pigmentosa 7 is PRPH2 (Peripherin 2). Affiliated tissues include retina, bone and 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 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 51)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 7 11.1
2 butterfly-shaped pigment dystrophy 10.8 PRPH2 ROM1
3 stargardt macular degeneration 10.8 PRPH2 RHO
4 retinitis pigmentosa 6 10.7 RHO RP9
5 retinitis pigmentosa 10 10.7 RHO RP9
6 congenital granular cell tumor 10.6 LYZ SERPINA1
7 stargardt disease 1 10.6 RHO ROM1
8 retinitis pigmentosa 1 10.6 PRPH2 RHO
9 adult xanthogranuloma 10.6 LYZ SERPINA1
10 al amyloidosis 10.6 LYZ TTR
11 meningococcal infection 10.5 ROM1 TTR
12 cutaneous solitary mastocytoma 10.5 LYZ SERPINA1
13 vitelliform macular dystrophy 10.5 PRPH2 ROM1
14 diffuse glomerulonephritis 10.4 B2M LYZ
15 retinal disease 10.4 PRPH2 RHO ROM1
16 reticulohistiocytic granuloma 10.4 LYZ SERPINA1
17 tibial neuropathy 10.4 B2M TTR
18 tarsal tunnel syndrome 10.4 B2M TTR
19 renal tuberculosis 10.4 B2M LYZ
20 retinitis 10.4 PRPH2 RHO RP9
21 pyelitis 10.4 B2M LYZ
22 retinal degeneration 10.4 PRPH2 RHO ROM1
23 fundus dystrophy 10.4 PRPH2 RHO ROM1
24 amyloidosis aa 10.3 B2M TTR
25 nerve compression syndrome 10.3 B2M TTR
26 in situ pulmonary adenocarcinoma 10.3 LYZ SERPINA1
27 amyloid tumor 10.3 B2M TTR
28 kwashiorkor 10.3 TF TTR
29 marasmus 10.3 TF TTR
30 ancylostomiasis 10.3 SERPINA1 TF
31 nodular nonsuppurative panniculitis 10.3 LYZ SERPINA1
32 congenital disorder of glycosylation, type ii 10.2 SERPINA1 TF
33 epileptic encephalopathy, early infantile, 36 10.2 SERPINA1 TF
34 peripheral retinal degeneration 10.2 PRPH2 ROM1 TF
35 siderosis 10.2 SERPINA1 TF
36 analbuminemia 10.1 TF TTR
37 dysentery 10.1 TF TTR
38 hereditary amyloidosis 10.0 B2M LYZ TTR
39 amyloidosis, familial visceral 10.0 B2M LYZ TTR
40 amyloidosis 10.0 B2M LYZ TTR
41 keratomalacia 10.0 RHO TF TTR
42 protein-energy malnutrition 10.0 TF TTR
43 testicular yolk sac tumor 9.9 SERPINA1 TF TTR
44 urinary system disease 9.9 B2M LYZ TF
45 vernal conjunctivitis 9.9 B2M TF
46 hemochromatosis, type 1 9.8 B2M SERPINA1 TF
47 nutritional deficiency disease 9.8 TF TTR
48 median rhomboid glossitis 9.8 B2M TF TTR
49 chronic kidney failure 9.8 B2M TF TTR
50 fructose intolerance, hereditary 9.8 SERPINA1 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:

57
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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 abnormal electroretinogram 32 HP:0000512
3 chorioretinal atrophy 32 occasional (7.5%) HP:0000533
4 pigmentary retinopathy 32 HP:0000580
5 nyctalopia 32 HP:0000662
6 constriction of peripheral visual field 32 HP:0001133
7 adult-onset night blindness 32 HP:0007830
8 attenuation of retinal blood vessels 32 HP:0007843

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 29 PRPH2 ROM1
2 Retinitis Pigmentosa 7, Digenic 29
3 Leber Congenital Amaurosis 18 29

Anatomical Context for Retinitis Pigmentosa 7

MalaCards organs/tissues related to Retinitis Pigmentosa 7:

41
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 7

Variations for Retinitis Pigmentosa 7

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

75 (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 23)
# 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.356_358delGCT (p.Cys119del) deletion Pathogenic rs61755777 GRCh38 Chromosome 6, 42721977: 42721979
5 PRPH2 NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu) single nucleotide variant Pathogenic rs61755806 GRCh37 Chromosome 6, 42672284: 42672284
6 PRPH2 NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu) single nucleotide variant Pathogenic rs61755806 GRCh38 Chromosome 6, 42704546: 42704546
7 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh37 Chromosome 6, 42689519: 42689519
8 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh38 Chromosome 6, 42721781: 42721781
9 PRPH2 NM_000322.4(PRPH2): c.732C> A (p.Asn244Lys) single nucleotide variant Pathogenic rs61755816 GRCh37 Chromosome 6, 42672199: 42672199
10 PRPH2 NM_000322.4(PRPH2): c.732C> A (p.Asn244Lys) single nucleotide variant Pathogenic rs61755816 GRCh38 Chromosome 6, 42704461: 42704461
11 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh38 Chromosome 6, 42721872: 42721874
12 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh37 Chromosome 6, 42689610: 42689612
13 PRPH2 NM_000322.4(PRPH2): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs61755771 GRCh37 Chromosome 6, 42689937: 42689937
14 PRPH2 NM_000322.4(PRPH2): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs61755771 GRCh38 Chromosome 6, 42722199: 42722199
15 PRPH2 PRPH2, 1-BP DEL, 1160T deletion Pathogenic
16 PRPH2 NM_000322.4(PRPH2): c.518A> T (p.Asp173Val) single nucleotide variant Pathogenic rs61755794 GRCh37 Chromosome 6, 42689555: 42689555
17 PRPH2 NM_000322.4(PRPH2): c.518A> T (p.Asp173Val) single nucleotide variant Pathogenic rs61755794 GRCh38 Chromosome 6, 42721817: 42721817
18 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh37 Chromosome 6, 42672294: 42672294
19 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh38 Chromosome 6, 42704556: 42704556
20 PRPH2 NM_000322.4(PRPH2): c.656_658delCAC (p.Pro219del) deletion Pathogenic rs61755807 GRCh37 Chromosome 6, 42672273: 42672275
21 PRPH2 NM_000322.4(PRPH2): c.656_658delCAC (p.Pro219del) deletion Pathogenic rs61755807 GRCh38 Chromosome 6, 42704535: 42704537
22 PRPH2 NM_000322.4(PRPH2): c.828+3A> T single nucleotide variant Pathogenic rs281865373 GRCh37 Chromosome 6, 42672100: 42672100
23 PRPH2 NM_000322.4(PRPH2): c.828+3A> T single nucleotide variant Pathogenic rs281865373 GRCh38 Chromosome 6, 42704362: 42704362

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 9.16 RHO ROM1
2 signal recognition particle receptor complex GO:0005785 8.96 RP9 TF
3 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 neutrophil degranulation GO:0043312 9.65 ADAM8 B2M LYZ SERPINA1 TTR
2 visual perception GO:0007601 9.61 PRPH2 RHO ROM1
3 iron ion homeostasis GO:0055072 9.46 B2M TF
4 positive regulation of receptor-mediated endocytosis GO:0048260 9.4 B2M TF
5 iron ion transport GO:0006826 9.37 B2M TF
6 cellular response to iron ion GO:0071281 9.32 B2M TF
7 regulation of iron ion import GO:1900390 9.16 B2M TF
8 retina homeostasis GO:0001895 9.13 B2M LYZ TF
9 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
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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