RP85
MCID: RTN219
MIFTS: 18

Retinitis Pigmentosa 85 (RP85)

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

Aliases & Classifications for Retinitis Pigmentosa 85

MalaCards integrated aliases for Retinitis Pigmentosa 85:

Name: Retinitis Pigmentosa 85 57 12 73 29 6
Rp85 57 12 73
Retinitis Pigmentosa, Type 85 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
retinitis pigmentosa 85:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112142
OMIM® 57 618345
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
SNOMED-CT via HPO 68 13164000 258211005 28835009

Summaries for Retinitis Pigmentosa 85

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 85: 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. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes.

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 related phenotypes are reduced visual acuity and progressive night blindness

Disease Ontology : 12 A retinitis pigmentosa that has material basis in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1.

More information from OMIM: 618345 PS268000

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

Symptoms & Phenotypes for Retinitis Pigmentosa 85

Human phenotypes related to Retinitis Pigmentosa 85:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 very rare (1%) HP:0007663
2 progressive night blindness 31 very rare (1%) HP:0007675
3 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 85

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 85

Genetic Tests for Retinitis Pigmentosa 85

Genetic tests related to Retinitis Pigmentosa 85:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 85 29 AHR

Anatomical Context for Retinitis Pigmentosa 85

MalaCards organs/tissues related to Retinitis Pigmentosa 85:

40
Retina

Publications for Retinitis Pigmentosa 85

Articles related to Retinitis Pigmentosa 85:

# Title Authors PMID Year
1
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. 57 6
29726989 2018

Variations for Retinitis Pigmentosa 85

ClinVar genetic disease variations for Retinitis Pigmentosa 85:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AHR NM_001621.5(AHR):c.1160+1G>A SNV Pathogenic 619236 rs1562481438 7:17375411-17375411 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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