MCID: RTN180
MIFTS: 19

Retinitis Pigmentosa 74

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 74

MalaCards integrated aliases for Retinitis Pigmentosa 74:

Name: Retinitis Pigmentosa 74 53 12 71 28
Rp74 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
moroccan jewish and ashkenazi jewish families have been described
no extraocular findings


HPO:

31
retinitis pigmentosa 74:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 616562
Disease Ontology 12 DOID:0110401
ICD10 32 H35.5
MeSH 41 D012174

Summaries for Retinitis Pigmentosa 74

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 74: 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 74, is also known as rp74, and has symptoms including rod-cone dystrophy, optic disc pallor and pigmentary retinopathy. An important gene associated with Retinitis Pigmentosa 74 is BBS2 (Bardet-Biedl Syndrome 2). Affiliated tissues include eye.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the BBS2 gene on chromosome 16q13.

Description from OMIM: 616562

Related Diseases for Retinitis Pigmentosa 74

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 74

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
impaired night vision
constricted visual fields
undetectable erg responses
posterior polar cataract
posterior subcapsular opacity
more

Clinical features from OMIM:

616562

Human phenotypes related to Retinitis Pigmentosa 74:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 optic disc pallor 31 HP:0000543
3 pigmentary retinopathy 31 HP:0000580
4 posterior polar cataract 31 HP:0001115
5 constriction of peripheral visual field 31 HP:0001133

Drugs & Therapeutics for Retinitis Pigmentosa 74

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 74

Genetic Tests for Retinitis Pigmentosa 74

Genetic tests related to Retinitis Pigmentosa 74:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 74 28 BBS2

Anatomical Context for Retinitis Pigmentosa 74

MalaCards organs/tissues related to Retinitis Pigmentosa 74:

38
Eye

Publications for Retinitis Pigmentosa 74

Variations for Retinitis Pigmentosa 74

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 74:

71
# Symbol AA change Variation ID SNP ID
1 BBS2 p.Asp104Ala VAR_013164
2 BBS2 p.Arg632Pro VAR_013169
3 BBS2 p.Ala33Asp VAR_075726
4 BBS2 p.Pro134Arg VAR_075727

ClinVar genetic disease variations for Retinitis Pigmentosa 74:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic rs121908179 GRCh37 Chromosome 16, 56548399: 56548399
2 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh38 Chromosome 16, 56496982: 56496982
3 BBS2 NM_031885.3(BBS2): c.98C> A (p.Ala33Asp) single nucleotide variant Pathogenic rs797045155 GRCh38 Chromosome 16, 56519765: 56519765
4 BBS2 NM_031885.3(BBS2): c.401C> G (p.Pro134Arg) single nucleotide variant Pathogenic rs376306240 GRCh37 Chromosome 16, 56545141: 56545141

Expression for Retinitis Pigmentosa 74

Search GEO for disease gene expression data for Retinitis Pigmentosa 74.

Pathways for Retinitis Pigmentosa 74

GO Terms for Retinitis Pigmentosa 74

Sources for Retinitis Pigmentosa 74

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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