MCID: RTN195
MIFTS: 22

Retinitis Pigmentosa 79

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 79

MalaCards integrated aliases for Retinitis Pigmentosa 79:

Name: Retinitis Pigmentosa 79 53 71 28
Rp79 53 71

Characteristics:

OMIM:

53
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:



Summaries for Retinitis Pigmentosa 79

UniProtKB/Swiss-Prot : 71 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, and has symptoms including optic disc pallor, photophobia and nyctalopia. An important gene associated with Retinitis Pigmentosa 79 is HK1 (Hexokinase 1). Affiliated tissues include bone and eye.

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 79

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nyctalopia
reduced visual fields
photophobia (in older patients)
color vision changes (in older patients)
decreased visual acuity (in older patients)
more

Clinical features from OMIM:

617460

Human phenotypes related to Retinitis Pigmentosa 79:

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

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 28 HK1

Anatomical Context for Retinitis Pigmentosa 79

MalaCards organs/tissues related to Retinitis Pigmentosa 79:

38
Bone, Eye

Publications for Retinitis Pigmentosa 79

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_033500.2(HK1): c.2503G> A (p.Glu835Lys) single nucleotide variant Pathogenic rs777849213 GRCh37 Chromosome 10, 71158514: 71158514

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
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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