MCID: RTN106
MIFTS: 24

Retinitis Pigmentosa 51

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 51

MalaCards integrated aliases for Retinitis Pigmentosa 51:

Name: Retinitis Pigmentosa 51 53 12 71 28 13 14 69
Rp51 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals do not exhibit any features of bardet-biedl syndrome (see )
one large consanguineous pakistani family has been reported (last curated may 2016)


HPO:

31
retinitis pigmentosa 51:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 51

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 51: 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.

MalaCards based summary : Retinitis Pigmentosa 51, is also known as rp51, and has symptoms including photophobia, visual impairment and reduced visual acuity. An important gene associated with Retinitis Pigmentosa 51 is TTC8 (Tetratricopeptide Repeat Domain 8). Affiliated tissues include bone, retina and eye.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the TTC8 gene on chromosome 14q31.

Description from OMIM: 613464

Related Diseases for Retinitis Pigmentosa 51

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 51

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
photophobia
reduced visual acuity
macular degeneration
night blindness
high myopia
more

Clinical features from OMIM:

613464

Human phenotypes related to Retinitis Pigmentosa 51:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 visual impairment 31 HP:0000505
3 reduced visual acuity 31 HP:0007663
4 nyctalopia 31 HP:0000662
5 macular degeneration 31 HP:0000608
6 rod-cone dystrophy 31 HP:0000510
7 attenuation of retinal blood vessels 31 HP:0007843
8 high myopia 31 HP:0011003
9 bone spicule pigmentation of the retina 31 HP:0007737
10 abnormal light- and dark-adapted electroretinogram 31 HP:0008323

UMLS symptoms related to Retinitis Pigmentosa 51:


photophobia

Drugs & Therapeutics for Retinitis Pigmentosa 51

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 51

Genetic Tests for Retinitis Pigmentosa 51

Genetic tests related to Retinitis Pigmentosa 51:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 51 28 TTC8

Anatomical Context for Retinitis Pigmentosa 51

MalaCards organs/tissues related to Retinitis Pigmentosa 51:

38
Bone, Retina, Eye

Publications for Retinitis Pigmentosa 51

Variations for Retinitis Pigmentosa 51

ClinVar genetic disease variations for Retinitis Pigmentosa 51:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC8 NM_144596.3(TTC8): c.115-2A> G single nucleotide variant Pathogenic rs587777809 GRCh38 Chromosome 14, 88833691: 88833691
2 TTC8 NM_144596.3(TTC8): c.1347G> C (p.Gln449His) single nucleotide variant Pathogenic rs876661403 GRCh38 Chromosome 14, 88872452: 88872452

Expression for Retinitis Pigmentosa 51

Search GEO for disease gene expression data for Retinitis Pigmentosa 51.

Pathways for Retinitis Pigmentosa 51

GO Terms for Retinitis Pigmentosa 51

Sources for Retinitis Pigmentosa 51

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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