MCID: RTN166
MIFTS: 22

Retinitis Pigmentosa 69

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 69

MalaCards integrated aliases for Retinitis Pigmentosa 69:

Name: Retinitis Pigmentosa 69 57 12 75 29 6 15 73
Rp69 57 12 75
Retinitis Pigmentosa, Type 69 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
diagnosis in the second decade of life


HPO:

32
retinitis pigmentosa 69:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615780
Disease Ontology 12 DOID:0110410
ICD10 33 H35.5
MeSH 44 D012174
UMLS 73 C4014312

Summaries for Retinitis Pigmentosa 69

UniProtKB/Swiss-Prot : 75 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, is also known as rp69. 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 undetectable electroretinogram

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

OMIM : 57 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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 69

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
pigmentary changes in the peripheral retina
atrophic changes of central macula (in some patients)
foveal thinning (in some patients)
decreased visual fields
undetectable responses on electroretinography (by fourth decade of life)


Clinical features from OMIM:

615780

Human phenotypes related to Retinitis Pigmentosa 69:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 undetectable electroretinogram 32 HP:0000550
3 pigmentary retinopathy 32 HP:0000580
4 constriction of peripheral visual field 32 HP:0001133

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:

41
Retina, Eye

Publications for Retinitis Pigmentosa 69

Variations for Retinitis Pigmentosa 69

ClinVar genetic disease variations for Retinitis Pigmentosa 69:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIZ NM_018474.5(KIZ): c.226C> T (p.Arg76Ter) single nucleotide variant Pathogenic rs202210819 GRCh37 Chromosome 20, 21117104: 21117104
2 KIZ NM_018474.5(KIZ): c.226C> T (p.Arg76Ter) single nucleotide variant Pathogenic rs202210819 GRCh38 Chromosome 20, 21136463: 21136463
3 KIZ NM_018474.5(KIZ): c.52G> T (p.Glu18Ter) single nucleotide variant Pathogenic rs587777376 GRCh37 Chromosome 20, 21106808: 21106808
4 KIZ NM_018474.5(KIZ): c.52G> T (p.Glu18Ter) single nucleotide variant Pathogenic rs587777376 GRCh38 Chromosome 20, 21126167: 21126167
5 KIZ NM_018474.5(KIZ): c.119_122delAACT (p.Lys40Ilefs) deletion Pathogenic rs587777377 GRCh37 Chromosome 20, 21112767: 21112770
6 KIZ NM_018474.5(KIZ): c.119_122delAACT (p.Lys40Ilefs) deletion Pathogenic rs587777377 GRCh38 Chromosome 20, 21132126: 21132129

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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