RP77
MCID: RTN192
MIFTS: 22

Retinitis Pigmentosa 77 (RP77)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 77

MalaCards integrated aliases for Retinitis Pigmentosa 77:

Name: Retinitis Pigmentosa 77 57 12 72 29 6
Rp77 57 72
Retinitis Pigmentosa, Type 77 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
retinitis pigmentosa 77:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080350
OMIM® 57 617304
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5

Summaries for Retinitis Pigmentosa 77

UniProtKB/Swiss-Prot : 72 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 eye, retina and bone, 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.

More information from OMIM: 617304 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 77

Human phenotypes related to Retinitis Pigmentosa 77:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 31 occasional (7.5%) HP:0011505
2 reduced visual acuity 31 HP:0007663
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 posterior subcapsular cataract 31 HP:0007787
6 retinal atrophy 31 HP:0001105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 REEP6

Anatomical Context for Retinitis Pigmentosa 77

MalaCards organs/tissues related to Retinitis Pigmentosa 77:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 77

Articles related to Retinitis Pigmentosa 77:

# Title Authors PMID Year
1
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. 57 6
27889058 2016

Variations for Retinitis Pigmentosa 77

ClinVar genetic disease variations for Retinitis Pigmentosa 77:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REEP6 NM_138393.4(REEP6):c.383C>T (p.Pro128Leu) SNV Pathogenic 374992 rs1057519317 GRCh37: 19:1496318-1496318
GRCh38: 19:1496319-1496319
2 REEP6 NM_138393.4(REEP6):c.404T>C (p.Leu135Pro) SNV Pathogenic 374989 rs1057519316 GRCh37: 19:1496339-1496339
GRCh38: 19:1496340-1496340
3 REEP6 NM_138393.4(REEP6):c.517+177dup Duplication Pathogenic 374991 rs1057519427 GRCh37: 19:1496625-1496626
GRCh38: 19:1496626-1496627
4 REEP6 NM_138393.4(REEP6):c.448del (p.Ala150fs) Deletion Pathogenic 375312 rs1057519341 GRCh37: 19:1496380-1496380
GRCh38: 19:1496381-1496381

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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