RP74
MCID: RTN180
MIFTS: 20

Retinitis Pigmentosa 74 (RP74)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 74

MalaCards integrated aliases for Retinitis Pigmentosa 74:

Name: Retinitis Pigmentosa 74 58 12 76 30 6
Rp74 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 74:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110401
OMIM 58 616562
MeSH 45 D012174
ICD10 34 H35.5

Summaries for Retinitis Pigmentosa 74

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Retinitis Pigmentosa 74 is BBS2 (Bardet-Biedl Syndrome 2). Affiliated tissues include 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 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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 74

Human phenotypes related to Retinitis Pigmentosa 74:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 optic disc pallor 33 HP:0000543
3 constriction of peripheral visual field 33 HP:0001133
4 pigmentary retinopathy 33 HP:0000580
5 posterior polar cataract 33 HP:0001115

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
pigmentary retinopathy
posterior polar cataract
constricted visual fields
impaired night vision
undetectable erg responses
more

Clinical features from OMIM:

616562

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 30 BBS2

Anatomical Context for Retinitis Pigmentosa 74

MalaCards organs/tissues related to Retinitis Pigmentosa 74:

42
Eye

Publications for Retinitis Pigmentosa 74

Articles related to Retinitis Pigmentosa 74:

# Title Authors Year
1
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. ( 25541840 )
2015
2
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. ( 11567139 )
2001

Variations for Retinitis Pigmentosa 74

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

76
# 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 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh37 Chromosome 16, 56553703: 56553703
2 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh38 Chromosome 16, 56519791: 56519791
3 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
4 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh38 Chromosome 16, 56502790: 56502790
5 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh37 Chromosome 16, 56548399: 56548399
6 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh38 Chromosome 16, 56514487: 56514487
7 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh38 Chromosome 16, 56496982: 56496982
8 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh37 Chromosome 16, 56530894: 56530894
9 BBS2 NM_031885.3(BBS2): c.98C> A (p.Ala33Asp) single nucleotide variant Uncertain significance rs797045155 GRCh38 Chromosome 16, 56519765: 56519765
10 BBS2 NM_031885.3(BBS2): c.98C> A (p.Ala33Asp) single nucleotide variant Uncertain significance rs797045155 GRCh37 Chromosome 16, 56553677: 56553677
11 BBS2 NM_031885.3(BBS2): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs376306240 GRCh37 Chromosome 16, 56545141: 56545141
12 BBS2 NM_031885.3(BBS2): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs376306240 GRCh38 Chromosome 16, 56511229: 56511229
13 BBS2 NM_031885.3(BBS2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147030232 GRCh38 Chromosome 16, 56501014: 56501014
14 BBS2 NM_031885.3(BBS2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147030232 GRCh37 Chromosome 16, 56534926: 56534926
15 BBS2 NM_031885.3(BBS2): c.534+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs773862084 GRCh37 Chromosome 16, 56544770: 56544770
16 BBS2 NM_031885.3(BBS2): c.534+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs773862084 GRCh38 Chromosome 16, 56510858: 56510858

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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