RP79
MCID: RTN195
MIFTS: 22

Retinitis Pigmentosa 79 (RP79)

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

Aliases & Classifications for Retinitis Pigmentosa 79

MalaCards integrated aliases for Retinitis Pigmentosa 79:

Name: Retinitis Pigmentosa 79 57 72 29 6
Rp79 57 72
Retinitis Pigmentosa, Type 79 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
retinitis pigmentosa 79:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617460
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174

Summaries for Retinitis Pigmentosa 79

UniProtKB/Swiss-Prot : 72 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

More information from OMIM: 617460 PS268000

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

Symptoms & Phenotypes for Retinitis Pigmentosa 79

Human phenotypes related to Retinitis Pigmentosa 79:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 reduced visual acuity 31 HP:0007663
3 nyctalopia 31 HP:0000662
4 optic disc pallor 31 HP:0000543
5 constriction of peripheral visual field 31 HP:0001133
6 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nyctalopia
optic disc pallor
macular atrophy
attenuated retinal vessels
bull's-eye maculopathy
more

Clinical features from OMIM®:

617460 (Updated 05-Apr-2021)

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 29 HK1

Anatomical Context for Retinitis Pigmentosa 79

MalaCards organs/tissues related to Retinitis Pigmentosa 79:

40
Eye, Bone

Publications for Retinitis Pigmentosa 79

Articles related to Retinitis Pigmentosa 79:

# Title Authors PMID Year
1
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. 57 6
25316723 2014
2
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. 57 6
25190649 2014
3
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. 6
30778173 2019
4
The phenotypic variability of HK1-associated retinal dystrophy. 6
28765615 2017
5
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). 6
26427411 2016

Variations for Retinitis Pigmentosa 79

ClinVar genetic disease variations for Retinitis Pigmentosa 79:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HK1 NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) SNV Pathogenic 421007 rs1064794848 GRCh37: 10:71142311-71142311
GRCh38: 10:69382555-69382555
2 HK1 NM_000188.3(HK1):c.1370C>T (p.Thr457Met) SNV Likely pathogenic 372693 rs1057517928 GRCh37: 10:71142347-71142347
GRCh38: 10:69382591-69382591
3 HK1 NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) SNV Likely pathogenic 424845 rs777849213 GRCh37: 10:71158514-71158514
GRCh38: 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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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