RP79
MCID: RTN195
MIFTS: 23

Retinitis Pigmentosa 79 (RP79)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 79

MalaCards integrated aliases for Retinitis Pigmentosa 79:

Name: Retinitis Pigmentosa 79 58 76 30 6
Rp79 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable intrafamilial phenotype
onset of symptoms varies from early childhood to the seventh decade of life


HPO:

33
retinitis pigmentosa 79:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Retinitis Pigmentosa 79

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 79: 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. RP79 inheritance is autosomal dominant.

MalaCards based summary : Retinitis Pigmentosa 79, is also known as rp79. An important gene associated with Retinitis Pigmentosa 79 is HK1 (Hexokinase 1). Affiliated tissues include eye and bone, and related phenotypes are photophobia and reduced visual acuity

Description from OMIM: 617460

Related Diseases for Retinitis Pigmentosa 79

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 79

Human phenotypes related to Retinitis Pigmentosa 79:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 reduced visual acuity 33 HP:0007663
3 nyctalopia 33 HP:0000662
4 optic disc pallor 33 HP:0000543
5 constriction of peripheral visual field 33 HP:0001133
6 macular atrophy 33 HP:0007401

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nyctalopia
optic disc pallor
attenuated retinal vessels
bull's-eye maculopathy
macular atrophy
more

Clinical features from OMIM:

617460

Drugs & Therapeutics for Retinitis Pigmentosa 79

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 79

Genetic Tests for Retinitis Pigmentosa 79

Genetic tests related to Retinitis Pigmentosa 79:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 79 30 HK1

Anatomical Context for Retinitis Pigmentosa 79

MalaCards organs/tissues related to Retinitis Pigmentosa 79:

42
Eye, Bone

Publications for Retinitis Pigmentosa 79

Articles related to Retinitis Pigmentosa 79:

# Title Authors Year
1
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. ( 25190649 )
2014
2
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. ( 25316723 )
2014

Variations for Retinitis Pigmentosa 79

ClinVar genetic disease variations for Retinitis Pigmentosa 79:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HK1 NM_000188.2(HK1): c.1370C> T (p.Thr457Met) single nucleotide variant Likely pathogenic rs1057517928 GRCh37 Chromosome 10, 71142347: 71142347
2 HK1 NM_000188.2(HK1): c.1370C> T (p.Thr457Met) single nucleotide variant Likely pathogenic rs1057517928 GRCh38 Chromosome 10, 69382591: 69382591
3 HK1 NM_033500.2(HK1): c.2503G> A (p.Glu835Lys) single nucleotide variant Pathogenic rs777849213 GRCh37 Chromosome 10, 71158514: 71158514
4 HK1 NM_033500.2(HK1): c.2503G> A (p.Glu835Lys) single nucleotide variant Pathogenic rs777849213 GRCh38 Chromosome 10, 69398758: 69398758

Expression for Retinitis Pigmentosa 79

Search GEO for disease gene expression data for Retinitis Pigmentosa 79.

Pathways for Retinitis Pigmentosa 79

GO Terms for Retinitis Pigmentosa 79

Sources for Retinitis Pigmentosa 79

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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