RP74
MCID: RTN180
MIFTS: 34

Retinitis Pigmentosa 74 (RP74)

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

Aliases & Classifications for Retinitis Pigmentosa 74

MalaCards integrated aliases for Retinitis Pigmentosa 74:

Name: Retinitis Pigmentosa 74 57 12 72 29 6 15
Rp74 57 12 72
Retinitis Pigmentosa, Type 74 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

Disease Ontology 12 DOID:0110401
OMIM® 57 616562
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5

Summaries for Retinitis Pigmentosa 74

UniProtKB/Swiss-Prot : 72 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, also known as rp74, is related to chronic interstitial cystitis and nonsyndromic retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 74 is BBS2 (Bardet-Biedl Syndrome 2). Affiliated tissues include eye and retina, 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.

More information from OMIM: 616562 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 74 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 chronic interstitial cystitis 10.1 FAM161A C8orf37
2 nonsyndromic retinitis pigmentosa 10.1 TTC8 BBS2
3 bardet-biedl syndrome 17 10.1 TTC8 BBS2
4 pigmented paravenous chorioretinal atrophy 10.0 TTC8 C8orf37
5 bardet-biedl syndrome 13 10.0 TTC8 BBS2
6 bardet-biedl syndrome 8 10.0 TTC8 BBS2
7 bardet-biedl syndrome 6 10.0 TTC8 BBS2
8 bardet-biedl syndrome 3 10.0 TTC8 BBS2
9 retinitis pigmentosa 67 9.9 PCARE C8orf37 ARHGEF18
10 retinitis pigmentosa 71 9.9 PCARE C8orf37 ARHGEF18
11 mckusick-kaufman syndrome 9.9 TTC8 BBS2
12 occult macular dystrophy 9.9 RP1L1 PCARE
13 bardet-biedl syndrome 18 9.9 TTC8 C8orf37 BBS2
14 bardet-biedl syndrome 19 9.9 TTC8 C8orf37 BBS2
15 bardet-biedl syndrome 11 9.9 TTC8 C8orf37 BBS2
16 bardet-biedl syndrome 14 9.9 TTC8 C8orf37 BBS2
17 retinitis pigmentosa 63 9.9 TOPORS C8orf37
18 choroidal dystrophy, central areolar, 1 9.8 TOPORS PCARE
19 stargardt disease 9.7 RP1L1 PCARE FAM161A
20 usher syndrome, type iia 9.7 TOPORS PCARE
21 bardet-biedl syndrome 9.7 TTC8 PCARE C8orf37 BBS2
22 vitelliform macular dystrophy 9.6 RP1L1 PCARE
23 cone-rod dystrophy 16 9.6 RP1L1 PCARE FAM161A C8orf37
24 retinitis 9.6 TOPORS RP1L1 FAM161A
25 retinitis pigmentosa 28 9.5 TOPORS PCARE FAM161A C8orf37
26 retinal degeneration 9.4 TOPORS PCARE FAM161A
27 retinitis pigmentosa 55 9.3 TTC8 RP1L1 PCARE FAM161A C8orf37
28 retinitis pigmentosa 31 8.9 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
29 usher syndrome 8.9 TTC8 TOPORS RP1L1 PCARE FAM161A BBS2
30 leber plus disease 8.7 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
31 cone-rod dystrophy 2 8.7 TOPORS RP1L1 PCARE FAM161A C8orf37 BBS2
32 retinitis pigmentosa 51 8.6 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
33 retinitis pigmentosa 54 8.6 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
34 retinitis pigmentosa 62 8.4 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
35 retinitis pigmentosa 8.2 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
36 fundus dystrophy 8.2 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 74:



Diseases related to Retinitis Pigmentosa 74

Symptoms & Phenotypes for Retinitis Pigmentosa 74

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 constriction of peripheral visual field 31 HP:0001133
5 posterior polar cataract 31 HP:0001115

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
pigmentary retinopathy
posterior polar cataract
constricted visual fields
impaired night vision
undetectable erg responses
more

Clinical features from OMIM®:

616562 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 74:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 ARL2BP BBS2 C8orf37 FAM161A PCARE RP1L1
2 vision/eye MP:0005391 9.23 ARHGEF18 ARL2BP BBS2 C8orf37 FAM161A PCARE

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 29 BBS2

Anatomical Context for Retinitis Pigmentosa 74

MalaCards organs/tissues related to Retinitis Pigmentosa 74:

40
Eye, Retina

Publications for Retinitis Pigmentosa 74

Articles related to Retinitis Pigmentosa 74:

# Title Authors PMID Year
1
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 57 6
25541840 2015
2
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 6
11567139 2001

Variations for Retinitis Pigmentosa 74

ClinVar genetic disease variations for Retinitis Pigmentosa 74:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BBS2 NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) SNV Pathogenic 4577 rs121908179 GRCh37: 16:56548399-56548399
GRCh38: 16:56514487-56514487
2 BBS2 NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) SNV Pathogenic 4578 rs138043021 GRCh37: 16:56530894-56530894
GRCh38: 16:56496982-56496982
3 BBS2 NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) SNV Pathogenic 209042 rs797045155 GRCh37: 16:56553677-56553677
GRCh38: 16:56519765-56519765
4 BBS2 NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) SNV Pathogenic 209043 rs376306240 GRCh37: 16:56545141-56545141
GRCh38: 16:56511229-56511229
5 BBS2 NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 370943 rs147030232 GRCh37: 16:56534926-56534926
GRCh38: 16:56501014-56501014
6 BBS2 NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) SNV Pathogenic 4572 rs121908177 GRCh37: 16:56536702-56536702
GRCh38: 16:56502790-56502790
7 BBS2 NM_031885.4(BBS2):c.534+1G>T SNV Pathogenic 553927 rs773862084 GRCh37: 16:56544770-56544770
GRCh38: 16:56510858-56510858
8 BBS2 NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) SNV Pathogenic 4570 rs121908175 GRCh37: 16:56553703-56553703
GRCh38: 16:56519791-56519791
9 BBS2 NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) SNV Likely pathogenic 4577 rs121908179 GRCh37: 16:56548399-56548399
GRCh38: 16:56514487-56514487
10 BBS2 NM_031885.5(BBS2):c.685T>C (p.Tyr229His) SNV Likely pathogenic 813999 rs778543585 GRCh37: 16:56540064-56540064
GRCh38: 16:56506152-56506152
11 BBS2 NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) SNV Uncertain significance 814000 rs1597020018 GRCh37: 16:56540087-56540087
GRCh38: 16:56506175-56506175

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

72
# Symbol AA change Variation ID SNP ID
1 BBS2 p.Asp104Ala VAR_013164 rs121908179
2 BBS2 p.Arg632Pro VAR_013169 rs138043021
3 BBS2 p.Ala33Asp VAR_075726 rs797045155
4 BBS2 p.Pro134Arg VAR_075727 rs376306240

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

Cellular components related to Retinitis Pigmentosa 74 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 TTC8 RP1L1 FAM161A BBS2 ARL2BP ARHGEF18
2 cell projection GO:0042995 9.73 TTC8 RP1L1 PCARE FAM161A BBS2 ARL2BP
3 microtubule organizing center GO:0005815 9.63 TTC8 BBS2 ARL2BP
4 photoreceptor inner segment GO:0001917 9.5 PCARE FAM161A C8orf37
5 photoreceptor outer segment GO:0001750 9.48 RP1L1 PCARE
6 ciliary basal body GO:0036064 9.46 TTC8 TOPORS FAM161A BBS2
7 ciliary membrane GO:0060170 9.43 TTC8 BBS2
8 cilium GO:0005929 9.43 TTC8 RP1L1 PCARE FAM161A BBS2 ARL2BP
9 BBSome GO:0034464 9.4 TTC8 BBS2
10 photoreceptor connecting cilium GO:0032391 8.92 TTC8 TOPORS RP1L1 FAM161A

Biological processes related to Retinitis Pigmentosa 74 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.62 RP1L1 PCARE FAM161A BBS2
2 cilium assembly GO:0060271 9.54 TTC8 FAM161A BBS2
3 fat cell differentiation GO:0045444 9.46 TTC8 BBS2
4 non-motile cilium assembly GO:1905515 9.43 TTC8 BBS2
5 photoreceptor cell maintenance GO:0045494 9.4 RP1L1 BBS2
6 maintenance of protein location in nucleus GO:0051457 9.26 TOPORS ARL2BP
7 visual perception GO:0007601 9.26 RP1L1 PCARE FAM161A BBS2
8 photoreceptor cell outer segment organization GO:0035845 9.16 TOPORS PCARE
9 cell projection organization GO:0030030 8.92 TTC8 RP1L1 FAM161A BBS2

Molecular functions related to Retinitis Pigmentosa 74 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 TTC8 BBS2

Sources for Retinitis Pigmentosa 74

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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