RP69
MCID: RTN166
MIFTS: 27

Retinitis Pigmentosa 69 (RP69)

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

Aliases & Classifications for Retinitis Pigmentosa 69

MalaCards integrated aliases for Retinitis Pigmentosa 69:

Name: Retinitis Pigmentosa 69 56 12 73 29 6 15 71
Rp69 56 12 73
Retinitis Pigmentosa, Type 69 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
diagnosis in the second decade of life


HPO:

31
retinitis pigmentosa 69:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110410
OMIM 56 615780
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
UMLS 71 C4014312

Summaries for Retinitis Pigmentosa 69

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 69: 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 69, also known as rp69, is related to retinitis pigmentosa 72 and retinitis pigmentosa 71. An important gene associated with Retinitis Pigmentosa 69 is KIZ (Kizuna Centrosomal Protein). Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and pigmentary retinopathy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the KIZ gene on chromosome 20p11.

OMIM : 56 Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (615780)

Related Diseases for Retinitis Pigmentosa 69

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 69 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 72 9.8 POMGNT1 ARHGEF18
2 retinitis pigmentosa 71 9.8 POMGNT1 ARHGEF18
3 retinitis pigmentosa 73 9.7 POMGNT1 ARHGEF18
4 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.5 MLN DMXL1
5 retinitis pigmentosa 70 9.5 POMGNT1 ARHGEF18
6 retinitis pigmentosa 9.2 POMGNT1 KIZ DMXL1 ARHGEF18

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 69:



Diseases related to Retinitis Pigmentosa 69

Symptoms & Phenotypes for Retinitis Pigmentosa 69

Human phenotypes related to Retinitis Pigmentosa 69:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 pigmentary retinopathy 31 HP:0000580
3 constriction of peripheral visual field 31 HP:0001133
4 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
decreased visual fields
pigmentary changes in the peripheral retina
atrophic changes of central macula (in some patients)
foveal thinning (in some patients)
undetectable responses on electroretinography (by fourth decade of life)

Clinical features from OMIM:

615780

Drugs & Therapeutics for Retinitis Pigmentosa 69

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 69

Genetic Tests for Retinitis Pigmentosa 69

Genetic tests related to Retinitis Pigmentosa 69:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 69 29 KIZ

Anatomical Context for Retinitis Pigmentosa 69

MalaCards organs/tissues related to Retinitis Pigmentosa 69:

40
Retina, Eye

Publications for Retinitis Pigmentosa 69

Articles related to Retinitis Pigmentosa 69:

# Title Authors PMID Year
1
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. 6 56
24680887 2014
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
5
Measurement of the transmittance coefficient spectrum of Cuprophan and RP69 membranes: applications to middle molecule removal via ultrafiltration. 61
951881 1976

Variations for Retinitis Pigmentosa 69

ClinVar genetic disease variations for Retinitis Pigmentosa 69:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIZ NM_018474.6(KIZ):c.86_89+19deldeletion Pathogenic 813294 20:21106837-21106859 20:21126196-21126218
2 KIZ NM_018474.6(KIZ):c.52G>T (p.Glu18Ter)SNV Pathogenic 128242 rs587777376 20:21106808-21106808 20:21126167-21126167
3 KIZ NM_018474.6(KIZ):c.119_122del (p.Lys40fs)deletion Pathogenic 128243 rs587777377 20:21112767-21112770 20:21132126-21132129
4 KIZ NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)SNV Conflicting interpretations of pathogenicity 128241 rs202210819 20:21117104-21117104 20:21136463-21136463
5 KIZ NM_018474.6(KIZ):c.509T>G (p.Met170Arg)SNV Benign 786967 20:21142615-21142615 20:21161974-21161974

Expression for Retinitis Pigmentosa 69

Search GEO for disease gene expression data for Retinitis Pigmentosa 69.

Pathways for Retinitis Pigmentosa 69

GO Terms for Retinitis Pigmentosa 69

Sources for Retinitis Pigmentosa 69

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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