RP77
MCID: RTN192
MIFTS: 22

Retinitis Pigmentosa 77 (RP77)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 77

MalaCards integrated aliases for Retinitis Pigmentosa 77:

Name: Retinitis Pigmentosa 77 58 12 76 30 6
Rp77 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms ranges from early childhood to age 20 years


HPO:

33
retinitis pigmentosa 77:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080350
OMIM 58 617304
MeSH 45 D012174
ICD10 34 H35.5

Summaries for Retinitis Pigmentosa 77

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 77: A form of retinitis pigmentosa, 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. RP77 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 77, is also known as rp77. An important gene associated with Retinitis Pigmentosa 77 is REEP6 (Receptor Accessory Protein 6). Affiliated tissues include bone and eye, and related phenotypes are cystoid macular edema and reduced visual acuity

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the REEP6 gene on chromosome 19p13.

Description from OMIM: 617304

Related Diseases for Retinitis Pigmentosa 77

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 77

Human phenotypes related to Retinitis Pigmentosa 77:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 33 occasional (7.5%) HP:0011505
2 reduced visual acuity 33 HP:0007663
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 retinal atrophy 33 HP:0001105
6 posterior subcapsular cataract 33 HP:0007787

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nyctalopia
attenuated retinal vessels
cystoid macular edema (in some patients)
posterior subcapsular cataracts
reduced peripheral visual fields, progressive
more

Clinical features from OMIM:

617304

Drugs & Therapeutics for Retinitis Pigmentosa 77

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 77

Genetic Tests for Retinitis Pigmentosa 77

Genetic tests related to Retinitis Pigmentosa 77:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 77 30 REEP6

Anatomical Context for Retinitis Pigmentosa 77

MalaCards organs/tissues related to Retinitis Pigmentosa 77:

42
Bone, Eye

Publications for Retinitis Pigmentosa 77

Articles related to Retinitis Pigmentosa 77:

# Title Authors Year
1
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. ( 27889058 )
2016

Variations for Retinitis Pigmentosa 77

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 77:

76
# Symbol AA change Variation ID SNP ID
1 REEP6 p.Pro128Leu VAR_077931 rs105751931
2 REEP6 p.Leu135Pro VAR_077932 rs105751931
3 REEP6 p.Glu75Lys VAR_081396 rs144942685

ClinVar genetic disease variations for Retinitis Pigmentosa 77:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 REEP6 NM_138393.2(REEP6): c.404T> C (p.Leu135Pro) single nucleotide variant Pathogenic rs1057519316 GRCh38 Chromosome 19, 1496340: 1496340
2 REEP6 NM_138393.2(REEP6): c.404T> C (p.Leu135Pro) single nucleotide variant Pathogenic rs1057519316 GRCh37 Chromosome 19, 1496339: 1496339
3 REEP6 NM_001329556.1(REEP6): c.557dupC (p.Val187Glyfs) duplication Pathogenic rs1057519427 GRCh38 Chromosome 19, 1496630: 1496630
4 REEP6 NM_001329556.1(REEP6): c.557dupC (p.Val187Glyfs) duplication Pathogenic rs1057519427 GRCh37 Chromosome 19, 1496629: 1496629
5 REEP6 NM_138393.2(REEP6): c.383C> T (p.Pro128Leu) single nucleotide variant Pathogenic rs1057519317 GRCh38 Chromosome 19, 1496319: 1496319
6 REEP6 NM_138393.2(REEP6): c.383C> T (p.Pro128Leu) single nucleotide variant Pathogenic rs1057519317 GRCh37 Chromosome 19, 1496318: 1496318
7 REEP6 NM_138393.2(REEP6): c.448delG (p.Ala150Profs) deletion Pathogenic rs1057519341 GRCh38 Chromosome 19, 1496384: 1496384
8 REEP6 NM_138393.2(REEP6): c.448delG (p.Ala150Profs) deletion Pathogenic rs1057519341 GRCh37 Chromosome 19, 1496383: 1496383

Expression for Retinitis Pigmentosa 77

Search GEO for disease gene expression data for Retinitis Pigmentosa 77.

Pathways for Retinitis Pigmentosa 77

GO Terms for Retinitis Pigmentosa 77

Sources for Retinitis Pigmentosa 77

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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