RP85
MCID: RTN219
MIFTS: 17

Retinitis Pigmentosa 85 (RP85)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 85

MalaCards integrated aliases for Retinitis Pigmentosa 85:

Name: Retinitis Pigmentosa 85 58 6
Rp85 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of one family (last curated march 2019)


Classifications:



External Ids:

OMIM 58 618345

Summaries for Retinitis Pigmentosa 85

MalaCards based summary : Retinitis Pigmentosa 85, is also known as rp85. An important gene associated with Retinitis Pigmentosa 85 is AHR (Aryl Hydrocarbon Receptor). Affiliated tissues include retina and eye.

Description from OMIM: 618345

Related Diseases for Retinitis Pigmentosa 85

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 85

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
progressive reduction in night vision
progressive reduction in visual acuity
pigment deposits in fundus
pale retina
disorganized photoreceptor layers seen on optical coherence tomography
more

Clinical features from OMIM:

618345

Drugs & Therapeutics for Retinitis Pigmentosa 85

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 85

Genetic Tests for Retinitis Pigmentosa 85

Anatomical Context for Retinitis Pigmentosa 85

MalaCards organs/tissues related to Retinitis Pigmentosa 85:

42
Retina, Eye

Publications for Retinitis Pigmentosa 85

Articles related to Retinitis Pigmentosa 85:

# Title Authors Year
1
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. ( 29726989 )
2018

Variations for Retinitis Pigmentosa 85

ClinVar genetic disease variations for Retinitis Pigmentosa 85:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AHR NM_001621.5(AHR): c.1160+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 17375411: 17375411
2 AHR NM_001621.5(AHR): c.1160+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 7, 17335787: 17335787

Expression for Retinitis Pigmentosa 85

Search GEO for disease gene expression data for Retinitis Pigmentosa 85.

Pathways for Retinitis Pigmentosa 85

GO Terms for Retinitis Pigmentosa 85

Sources for Retinitis Pigmentosa 85

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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