RP81
MCID: RTN214
MIFTS: 18

Retinitis Pigmentosa 81 (RP81)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 81

MalaCards integrated aliases for Retinitis Pigmentosa 81:

Name: Retinitis Pigmentosa 81 58 12 76 30 6
Rp81 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
retinal degeneration worsens with age
based on report of 1 family (last curated february 2018)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080292
OMIM 58 617871
MeSH 45 D012174
SNOMED-CT via HPO 70 398979000

Summaries for Retinitis Pigmentosa 81

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 81: 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. RP81 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 81, is also known as rp81. An important gene associated with Retinitis Pigmentosa 81 is IFT43 (Intraflagellar Transport 43). Affiliated tissues include bone and eye, and related phenotype is pallor.

Description from OMIM: 617871

Related Diseases for Retinitis Pigmentosa 81

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 81

Human phenotypes related to Retinitis Pigmentosa 81:

33
# Description HPO Frequency HPO Source Accession
1 pallor 33 HP:0000980

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic nerve pallor
retinal vessel attenuation
undetectable responses on electroretinography
reduced night vision in early childhood
bone-spicule pigmentary changes
more

Clinical features from OMIM:

617871

Drugs & Therapeutics for Retinitis Pigmentosa 81

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 81

Genetic Tests for Retinitis Pigmentosa 81

Genetic tests related to Retinitis Pigmentosa 81:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 81 30

Anatomical Context for Retinitis Pigmentosa 81

MalaCards organs/tissues related to Retinitis Pigmentosa 81:

42
Bone, Eye

Publications for Retinitis Pigmentosa 81

Variations for Retinitis Pigmentosa 81

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 81:

76
# Symbol AA change Variation ID SNP ID
1 IFT43 p.Glu34Lys VAR_080629 rs140366557

ClinVar genetic disease variations for Retinitis Pigmentosa 81:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT43 NM_052873.2(IFT43): c.100G> A (p.Glu34Lys) single nucleotide variant Likely pathogenic rs140366557 GRCh37 Chromosome 14, 76455273: 76455273
2 IFT43 NM_052873.2(IFT43): c.100G> A (p.Glu34Lys) single nucleotide variant Likely pathogenic rs140366557 GRCh38 Chromosome 14, 75988930: 75988930

Expression for Retinitis Pigmentosa 81

Search GEO for disease gene expression data for Retinitis Pigmentosa 81.

Pathways for Retinitis Pigmentosa 81

GO Terms for Retinitis Pigmentosa 81

Sources for Retinitis Pigmentosa 81

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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