RP7
MCID: RTN175
MIFTS: 38

Retinitis Pigmentosa 7 and Digenic (RP7) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 7 and Digenic

Aliases & Descriptions for Retinitis Pigmentosa 7 and Digenic:

Name: Retinitis Pigmentosa 7 and Digenic 54
Retinitis Pigmentosa 7 12 50 66 29 13 14 69
Retinitis Pigmentosa 7, Digenic 54 13
Retinitis Pigmentosa 7 Digenic 66 29
Leber Congenital Amaurosis 18 54 66
Rp7 12 66
Lca18 66
Rp 7 50

Characteristics:

HPO:

32
retinitis pigmentosa 7 and digenic:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608133
Disease Ontology 12 DOID:0110383
ICD10 33 H35.5

Summaries for Retinitis Pigmentosa 7 and Digenic

UniProtKB/Swiss-Prot : 66 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 and Digenic, also known as retinitis pigmentosa 7, is related to cone-rod dystrophy 7 and leber congenital amaurosis 1, and has symptoms including abnormal electroretinogram, rod-cone dystrophy and constriction of peripheral visual field. An important gene associated with Retinitis Pigmentosa 7 and Digenic is PRPH2 (Peripherin 2). Affiliated tissues include retina 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 and Digenic

Diseases related to Retinitis Pigmentosa 7 and Digenic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 7 10.9
2 leber congenital amaurosis 1 10.9
3 prph2-related retinitis pigmentosa 10.8
4 parachute tricuspid valve 10.3 PRPH2 ROM1
5 vitreoretinochoroidopathy 10.3 PRPH2 ROM1
6 branchial cleft anomalies branchial cysts, included 10.3 RHO ROM1
7 autosomal dominant congenital stationary night blindness 10.3 PRPH2 RHO
8 cortisone reductase deficiency 1 10.3 RHO ROM1
9 retinitis pigmentosa 19 10.3 RHO ROM1
10 glucocorticoid deficiency 3 10.3 PRPH2 RHO
11 appendicitis 10.2 LYZ SERPINA1
12 alcohol-related neurodevelopmental disorder 10.2 PRPH2 ROM1
13 maxillary sinus squamous cell carcinoma 10.2 LYZ SERPINA1
14 mental retardation hypocupremia hypobetalipoproteinemia 10.2 ROM1 TTR
15 hypertrichotic osteochondrodysplasia 10.2 PRPH2 RHO ROM1
16 bubonic plague 10.2 B2M LYZ
17 endodermal sinus tumor 10.2 LYZ SERPINA1
18 kidney rhabdoid cancer 10.2 LYZ SERPINA1
19 melanoma, cutaneous malignant 10 10.2 RHO RP9
20 angiokeratoma 10.2 B2M LYZ
21 denture stomatitis 10.2 B2M TTR
22 adult liposarcoma 10.2 PRPH2 RHO ROM1
23 tibial nerve palsy 10.2 B2M TTR
24 epidural spinal canal angiolipoma 10.2 PRPH2 RHO RP9
25 polyhydramnios 10.2 PRPH2 RHO ROM1
26 childhood vagina botryoid rhabdomyosarcoma 10.2 B2M TTR
27 anaplastic ganglioglioma 10.2 B2M TTR
28 male genital organ stricture 10.2 TF TTR
29 female infertility of uterine origin 10.2 TF TTR
30 pancreatic vasoactive intestinal peptide producing tumor 10.2 B2M TTR
31 hypotrichosis 6 10.1 B2M TTR
32 hemorrhoid 10.1 B2M LYZ
33 glycogen storage disease viii 10.1 B2M LYZ
34 achilles bursitis 10.1 SERPINA1 TF
35 blessig's cysts 10.1 PRPH2 ROM1 TF
36 chondrosarcoma, extraskeletal myxoid 10.1 SERPINA1 TF
37 ivic syndrome 10.1 SERPINA1 TF
38 hereditary lymphedema type ii 10.1 B2M LYZ TTR
39 van maldergem syndrome 2 10.1 B2M LYZ TTR
40 hard palate cancer 10.1 B2M LYZ TTR
41 solar retinopathy 10.1 RHO TF TTR
42 kaolin pneumoconiosis 10.0 SERPINA1 TF
43 malignant hyperthermia susceptibility 1 10.0 B2M TF
44 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.0 TF TTR
45 focal epithelial hyperplasia 10.0 SERPINA1 TF TTR
46 bladder sarcoma 10.0 TF TTR
47 calcinosis 10.0 B2M LYZ TF
48 bacteriuria 10.0 B2M TF TTR
49 chronic myocardial ischemia 10.0 B2M TF TTR
50 central nervous system origin vertigo 10.0 B2M TF

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



Diseases related to Retinitis Pigmentosa 7 and Digenic

Symptoms & Phenotypes for Retinitis Pigmentosa 7 and Digenic

Symptoms by clinical synopsis from OMIM:

608133

Clinical features from OMIM:

608133

Human phenotypes related to Retinitis Pigmentosa 7 and Digenic:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 HP:0000512
2 rod-cone dystrophy 32 HP:0000510
3 constriction of peripheral visual field 32 HP:0001133
4 chorioretinal atrophy 32 HP:0000533
5 pigmentary retinal degeneration 32 HP:0001146
6 adult-onset night blindness 32 HP:0007830

Drugs & Therapeutics for Retinitis Pigmentosa 7 and Digenic

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 7 and Digenic

Genetic Tests for Retinitis Pigmentosa 7 and Digenic

Genetic tests related to Retinitis Pigmentosa 7 and Digenic:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 7 29
2 Retinitis Pigmentosa 7, Digenic 29

Anatomical Context for Retinitis Pigmentosa 7 and Digenic

MalaCards organs/tissues related to Retinitis Pigmentosa 7 and Digenic:

39
Retina, Eye

Publications for Retinitis Pigmentosa 7 and Digenic

Variations for Retinitis Pigmentosa 7 and Digenic

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

66 (show all 25)
id 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 and Digenic:

6 (show all 13)
id 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 and Digenic

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

Pathways for Retinitis Pigmentosa 7 and Digenic

GO Terms for Retinitis Pigmentosa 7 and Digenic

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

id 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 and Digenic according to GeneCards Suite gene sharing:

id 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

Sources for Retinitis Pigmentosa 7 and Digenic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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