RP81
MCID: RTN214
MIFTS: 20

Retinitis Pigmentosa 81 (RP81)

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

Aliases & Classifications for Retinitis Pigmentosa 81

MalaCards integrated aliases for Retinitis Pigmentosa 81:

Name: Retinitis Pigmentosa 81 57 12 72 29 6
Rp81 57 72
Retinitis Pigmentosa, Type 81 39

Characteristics:

OMIM®:

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

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


HPO:

31
retinitis pigmentosa 81:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080292
OMIM® 57 617871
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
SNOMED-CT via HPO 68 258211005 398979000

Summaries for Retinitis Pigmentosa 81

UniProtKB/Swiss-Prot : 72 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 eye and bone, and related phenotype is pallor.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in homozygous mutation in the IFT43 gene on chromosome 14q24.

More information from OMIM: 617871 PS268000

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

Symptoms & Phenotypes for Retinitis Pigmentosa 81

Human phenotypes related to Retinitis Pigmentosa 81:

31
# Description HPO Frequency HPO Source Accession
1 pallor 31 HP:0000980

Symptoms via clinical synopsis from OMIM®:

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

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 29 IFT43

Anatomical Context for Retinitis Pigmentosa 81

MalaCards organs/tissues related to Retinitis Pigmentosa 81:

40
Eye, Bone

Publications for Retinitis Pigmentosa 81

Articles related to Retinitis Pigmentosa 81:

# Title Authors PMID Year
1
A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 6 57
28973684 2017
2
Barriers in utilisation of low vision assistive products. 61
31388131 2020
3
Molecular organization of the canine major histocompatibility complex. 61
12692158 2003

Variations for Retinitis Pigmentosa 81

ClinVar genetic disease variations for Retinitis Pigmentosa 81:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT43 NM_052873.3(IFT43):c.100G>A (p.Glu34Lys) SNV Likely pathogenic 489395 rs140366557 GRCh37: 14:76455273-76455273
GRCh38: 14:75988930-75988930
2 IFT43 NM_052873.3(IFT43):c.310+2T>C SNV Uncertain significance 596041 rs141114765 GRCh37: 14:76543036-76543036
GRCh38: 14:76076693-76076693

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

72
# Symbol AA change Variation ID SNP ID
1 IFT43 p.Glu34Lys VAR_080629 rs140366557

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
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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