RP82
MCID: RTN216
MIFTS: 22

Retinitis Pigmentosa 82 with or Without Situs Inversus (RP82)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Retinitis Pigmentosa 82 with or Without Situs Inversus

MalaCards integrated aliases for Retinitis Pigmentosa 82 with or Without Situs Inversus:

Name: Retinitis Pigmentosa 82 with or Without Situs Inversus 57 72 29 6
Retinitis Pigmentosa with or Without Situs Inversus 57 12
Rp82 57 72
Retinitis Pigmentosa, with/without Situs Inversus 39

Characteristics:

OMIM®:

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


HPO:

31
retinitis pigmentosa 82 with or without situs inversus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110419
OMIM® 57 615434
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5

Summaries for Retinitis Pigmentosa 82 with or Without Situs Inversus

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 82 with or without situs inversus: An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. 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. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition.

MalaCards based summary : Retinitis Pigmentosa 82 with or Without Situs Inversus, is also known as retinitis pigmentosa with or without situs inversus. An important gene associated with Retinitis Pigmentosa 82 with or Without Situs Inversus is ARL2BP (ADP Ribosylation Factor Like GTPase 2 Binding Protein). Affiliated tissues include retina, eye and bone, and related phenotypes are situs inversus totalis and posterior subcapsular cataract

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ARL2BP gene on chromosome 16q13.

More information from OMIM: 615434 PS268000

Related Diseases for Retinitis Pigmentosa 82 with or Without Situs Inversus

Symptoms & Phenotypes for Retinitis Pigmentosa 82 with or Without Situs Inversus

Human phenotypes related to Retinitis Pigmentosa 82 with or Without Situs Inversus:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 posterior subcapsular cataract 31 occasional (7.5%) HP:0007787
3 reduced visual acuity 31 HP:0007663
4 rod-cone dystrophy 31 HP:0000510
5 optic disc pallor 31 HP:0000543
6 macular atrophy 31 HP:0007401

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic disc pallor
attenuated retinal blood vessels
decreased night vision (early in course of disease)
impaired visual fields
decreased central vision (later in course of disease)
more
Chest:
situs inversus (in some patients)

Cardiovascular:
situs inversus (in some patients)

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM®:

615434 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 82 with or Without Situs Inversus

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 82 with or Without Situs Inversus

Genetic Tests for Retinitis Pigmentosa 82 with or Without Situs Inversus

Genetic tests related to Retinitis Pigmentosa 82 with or Without Situs Inversus:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 82 with or Without Situs Inversus 29 ARL2BP

Anatomical Context for Retinitis Pigmentosa 82 with or Without Situs Inversus

MalaCards organs/tissues related to Retinitis Pigmentosa 82 with or Without Situs Inversus:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 82 with or Without Situs Inversus

Articles related to Retinitis Pigmentosa 82 with or Without Situs Inversus:

# Title Authors PMID Year
1
ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant. 57 6
27790702 2017
2
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. 57 6
23849777 2013

Variations for Retinitis Pigmentosa 82 with or Without Situs Inversus

ClinVar genetic disease variations for Retinitis Pigmentosa 82 with or Without Situs Inversus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL2BP NM_012106.4(ARL2BP):c.101-1G>C SNV Pathogenic 65473 rs879255568 GRCh37: 16:57282448-57282448
GRCh38: 16:57248536-57248536
2 ARL2BP NM_012106.4(ARL2BP):c.207+1G>T SNV Pathogenic 559501 rs199830550 GRCh37: 16:57282556-57282556
GRCh38: 16:57248644-57248644
3 ARL2BP NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg) SNV Pathogenic 65474 rs398123053 GRCh37: 16:57282482-57282482
GRCh38: 16:57248570-57248570

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 82 with or Without Situs Inversus:

72
# Symbol AA change Variation ID SNP ID
1 ARL2BP p.Met45Arg VAR_070227 rs398123053

Expression for Retinitis Pigmentosa 82 with or Without Situs Inversus

Search GEO for disease gene expression data for Retinitis Pigmentosa 82 with or Without Situs Inversus.

Pathways for Retinitis Pigmentosa 82 with or Without Situs Inversus

GO Terms for Retinitis Pigmentosa 82 with or Without Situs Inversus

Sources for Retinitis Pigmentosa 82 with or Without Situs Inversus

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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