RP32
MCID: RTN061
MIFTS: 32

Retinitis Pigmentosa 32 (RP32)

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

Aliases & Classifications for Retinitis Pigmentosa 32

MalaCards integrated aliases for Retinitis Pigmentosa 32:

Name: Retinitis Pigmentosa 32 57 12 20 72 29 6 15 70
Rp32 57 12 72
Retinitis Pigmentosa-32 13
Rp 32 20

Characteristics:

OMIM®:

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

Miscellaneous:
onset of symptoms in first decade of life
progressive retinal degeneration with increasing age


HPO:

31
retinitis pigmentosa 32:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110355
OMIM® 57 609913
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1835927
UMLS 70 C1835927

Summaries for Retinitis Pigmentosa 32

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 32: 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. RP32 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 32, also known as rp32, is related to retinitis pigmentosa and cone-rod dystrophy 8. An important gene associated with Retinitis Pigmentosa 32 is CLCC1 (Chloride Channel CLIC Like 1). Affiliated tissues include retina, eye and bone, and related phenotypes are photophobia and reduced visual acuity

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.

More information from OMIM: 609913 PS268000

Related Diseases for Retinitis Pigmentosa 32

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

Diseases related to Retinitis Pigmentosa 32 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.7 ZNF513 SLC24A1 RP32 LCA5 IMPG2 EYS
2 cone-rod dystrophy 8 10.2 ZNF513 LCA5
3 retinitis pigmentosa 28 10.2 ZNF513 LCA5
4 retinitis pigmentosa 71 10.1 ZNF513 IMPG2
5 mitochondrial dna-associated leigh syndrome 10.1 MT-TV MT-TK
6 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-TV MT-TK
7 retinitis pigmentosa 36 10.1 MT-TV MT-TK
8 retinitis pigmentosa 22 10.1 MT-TV MT-TK
9 retinitis pigmentosa 14 10.1 MT-TV MT-TK
10 retinitis pigmentosa 12 10.0 MT-TV MT-TK
11 mental retardation, autosomal dominant 30 10.0 MT-TV MT-TK
12 retinitis pigmentosa 25 10.0 LCA5 EYS
13 solar retinopathy 9.9 IMPG2 ABCA4
14 chorioretinal scar 9.9 IMPG2 ABCA4
15 basal laminar drusen 9.9 IMPG2 ABCA4
16 occult macular dystrophy 9.8 IMPG2 ABCA4
17 retinitis pigmentosa 20 9.8 MT-TV MT-TK EYS
18 macular degeneration, age-related, 2 9.8 IMPG2 ABCA4
19 vitreoretinochoroidopathy 9.8 IMPG2 ABCA4
20 bestrophinopathy, autosomal recessive 9.8 IMPG2 ABCA4
21 choroid disease 9.7 EYS ABCA4
22 scotoma 9.7 EYS ABCA4
23 bietti crystalline corneoretinal dystrophy 9.7 EYS ABCA4
24 usher syndrome type 2 9.7 LCA5 EYS ABCA4
25 retinitis pigmentosa 29 9.6 ZNF513 SLC24A1 LCA5 EYS
26 hereditary retinal dystrophy 9.6 IMPG2 EYS ABCA4
27 vitelliform macular dystrophy 9.6 IMPG2 EYS ABCA4
28 fundus albipunctatus 9.5 SLC24A1 EYS ABCA4
29 choroidal dystrophy, central areolar, 1 9.5 EYS ABCA4
30 stargardt disease 9.4 LCA5 IMPG2 EYS ABCA4
31 cone dystrophy 9.4 LCA5 EYS ABCA4
32 retinal disease 9.4 IMPG2 EYS ABCA4
33 congenital stationary night blindness 9.4 ZNF513 SLC24A1 EYS ABCA4
34 leber plus disease 9.0 ZNF513 SLC24A1 LCA5 IMPG2 EYS ABCA4
35 cone-rod dystrophy 2 8.9 SLC24A1 LCA5 IMPG2 EYS ABCA4
36 fundus dystrophy 8.9 ZNF513 SLC24A1 LCA5 IMPG2 EYS ABCA4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 32:



Diseases related to Retinitis Pigmentosa 32

Symptoms & Phenotypes for Retinitis Pigmentosa 32

Human phenotypes related to Retinitis Pigmentosa 32:

31 (show all 9)
# 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 retinal degeneration 31 HP:0000546
6 attenuation of retinal blood vessels 31 HP:0007843
7 photoreceptor layer loss on macular oct 31 HP:0030609
8 bone spicule pigmentation of the retina 31 HP:0007737
9 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
photophobia
macular degeneration
severely reduced visual acuity
progressive loss of peripheral vision
more

Clinical features from OMIM®:

609913 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 32

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 32

Genetic Tests for Retinitis Pigmentosa 32

Genetic tests related to Retinitis Pigmentosa 32:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 32 29 CLCC1

Anatomical Context for Retinitis Pigmentosa 32

MalaCards organs/tissues related to Retinitis Pigmentosa 32:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 32

Articles related to Retinitis Pigmentosa 32:

# Title Authors PMID Year
1
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. 6 57
30157172 2018
2
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. 57 6
16189710 2005
3
Expression and evaluation of recombinant P32 protein based ELISA for sero-diagnostic potential of capripox in sheep and goats. 61
29158139 2018
4
Retinitis pigmentosa genes implicated in South Asian populations: a systematic review. 61
29171570 2017
5
Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family. 61
21281067 2011
6
The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, senior syndrome and choroideremia. 61
7953249 1994
7
The assumed assimilation of cholesterol by Lactobacilli and Bifidobacterium bifidum is due to their bile salt-deconjugating activity. 61
8489229 1993
8
Assimilation of cholesterol by Lactobacillus acidophilus. 61
3920964 1985

Variations for Retinitis Pigmentosa 32

ClinVar genetic disease variations for Retinitis Pigmentosa 32:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCC1 NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu) SNV Pathogenic 972741 GRCh37: 1:109492985-109492985
GRCh38: 1:108950363-108950363

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 32:

72
# Symbol AA change Variation ID SNP ID
1 CLCC1 p.Asp25Glu VAR_083125 rs750180668

Expression for Retinitis Pigmentosa 32

Search GEO for disease gene expression data for Retinitis Pigmentosa 32.

Pathways for Retinitis Pigmentosa 32

GO Terms for Retinitis Pigmentosa 32

Cellular components related to Retinitis Pigmentosa 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interphotoreceptor matrix GO:0033165 8.62 IMPG2 EYS

Biological processes related to Retinitis Pigmentosa 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.26 ABCA4 EYS SLC24A1 ZNF513
2 photoreceptor cell maintenance GO:0045494 9.16 ABCA4 LCA5
3 visual perception GO:0007601 9.02 ZNF513 SLC24A1 IMPG2 EYS ABCA4

Sources for Retinitis Pigmentosa 32

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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