MCID: RTN158
MIFTS: 19

Retinitis Pigmentosa with or Without Situs Inversus

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa with or Without Situs Inversus

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

Name: Retinitis Pigmentosa with or Without Situs Inversus 57 12 75 29 6
Retinitis Pigmentosa, with/without Situs Inversus 40
Retinitis Pigmentosa Without Situs Inversus 6
Rpsi 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa with or without situs inversus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615434
Disease Ontology 12 DOID:0110419
ICD10 33 H35.5

Summaries for Retinitis Pigmentosa with or Without Situs Inversus

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa with or without situs inversus: A 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 with or Without Situs Inversus, is also known as retinitis pigmentosa, with/without situs inversus. An important gene associated with Retinitis Pigmentosa with or Without Situs Inversus is ARL2BP (ADP Ribosylation Factor Like GTPase 2 Binding Protein). Affiliated tissues include retina, bone and eye, and related phenotypes are rod-cone dystrophy and optic disc pallor

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

Description from OMIM: 615434

Related Diseases for Retinitis Pigmentosa with or Without Situs Inversus

Symptoms & Phenotypes for Retinitis Pigmentosa with or Without Situs Inversus

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased night vision (early in course of disease)
impaired visual fields
decreased central vision (later in course of disease)
optic disc pallor
bone-spicule-like pigmentation in midperiphery, mild-to-moderate
more
Chest:
situs inversus (in some patients)

Cardiovascular:
situs inversus (in some patients)

Abdomen:
situs inversus (in some patients)


Clinical features from OMIM:

615434

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

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 optic disc pallor 32 HP:0000543
3 situs inversus totalis 32 occasional (7.5%) HP:0001696
4 reduced visual acuity 32 HP:0007663
5 posterior subcapsular cataract 32 occasional (7.5%) HP:0007787

Drugs & Therapeutics for Retinitis Pigmentosa with or Without Situs Inversus

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

Genetic Tests for Retinitis Pigmentosa with or Without Situs Inversus

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

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

Anatomical Context for Retinitis Pigmentosa with or Without Situs Inversus

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

41
Retina, Bone, Eye

Publications for Retinitis Pigmentosa with or Without Situs Inversus

Variations for Retinitis Pigmentosa with or Without Situs Inversus

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

75
# Symbol AA change Variation ID SNP ID
1 ARL2BP p.Met45Arg VAR_070227 rs398123053

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL2BP NM_012106.3(ARL2BP): c.101-1G> C single nucleotide variant Pathogenic rs879255568 GRCh38 Chromosome 16, 57248536: 57248536
2 ARL2BP NM_012106.3(ARL2BP): c.101-1G> C single nucleotide variant Pathogenic rs879255568 GRCh37 Chromosome 16, 57282448: 57282448
3 ARL2BP NM_012106.3(ARL2BP): c.134T> G (p.Met45Arg) single nucleotide variant Pathogenic rs398123053 GRCh37 Chromosome 16, 57282482: 57282482
4 ARL2BP NM_012106.3(ARL2BP): c.134T> G (p.Met45Arg) single nucleotide variant Pathogenic rs398123053 GRCh38 Chromosome 16, 57248570: 57248570

Expression for Retinitis Pigmentosa with or Without Situs Inversus

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

Pathways for Retinitis Pigmentosa with or Without Situs Inversus

GO Terms for Retinitis Pigmentosa with or Without Situs Inversus

Sources for Retinitis Pigmentosa with or Without Situs Inversus

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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