Retinitis Pigmentosa 74 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 74

MalaCards integrated aliases for Retinitis Pigmentosa 74:

Name: Retinitis Pigmentosa 74 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Rp74 ⁵⁶ ¹² ⁷³

Retinitis Pigmentosa, Type 74 ³⁹

Characteristics:

OMIM:

⁵⁶

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110401

OMIM ⁵⁶ 616562

OMIM Phenotypic Series ⁵⁶ PS268000

MeSH ⁴³ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C4225281 CN232915

SNOMED-CT via HPO ⁶⁸ 1151008 258211005 267628004 more

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Summaries for Retinitis Pigmentosa 74

UniProtKB/Swiss-Prot : ⁷³ 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 retinitis pigmentosa 71 and retinitis pigmentosa 67. 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

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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
Nonsyndromic Retinitis Pigmentosa

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

(show all 37)

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa 71	10.2	PCARE ARHGEF18
2	retinitis pigmentosa 67	10.2	PCARE ARHGEF18
3	retinitis pigmentosa 63	10.1	PCARE C8orf37
4	retinitis pigmentosa 28	10.1	PCARE FAM161A
5	bardet-biedl syndrome 19	10.1	TTC8 BBS2
6	bardet-biedl syndrome 17	10.1	TTC8 BBS2
7	bardet-biedl syndrome 18	10.1	TTC8 BBS2
8	bardet-biedl syndrome 13	10.1	TTC8 BBS2
9	bardet-biedl syndrome 11	10.1	TTC8 BBS2
10	bardet-biedl syndrome 8	10.0	TTC8 BBS2
11	bardet-biedl syndrome 6	10.0	TTC8 BBS2
12	pigmented paravenous chorioretinal atrophy	10.0	TTC8 C8orf37
13	bardet-biedl syndrome 3	10.0	TTC8 BBS2
14	occult macular dystrophy	10.0	RP1L1 PCARE
15	bardet-biedl syndrome 14	9.9	TTC8 BBS2
16	mckusick-kaufman syndrome	9.9	TTC8 BBS2
17	cranioectodermal dysplasia 1	9.8	IFT140 BBS2
18	senior-loken syndrome 1	9.8	IFT140 FAM161A BBS2
19	nonsyndromic retinitis pigmentosa	9.7	TTC8 IFT140 BBS2
20	retinitis pigmentosa 1	9.7	RP1L1 IFT140
21	stargardt disease	9.7	RP1L1 PCARE FAM161A
22	congenital stationary night blindness	9.7	RP1L1 PCARE BBS2
23	polycystic kidney disease 4 with or without polycystic liver disease	9.6	IFT140 BBS2
24	polydactyly	9.6	TTC8 IFT140 BBS2
25	retinitis pigmentosa 31	9.4	TTC8 PCARE FAM161A C8orf37
26	cone-rod dystrophy 16	9.4	PCARE IFT140 FAM161A C8orf37
27	retinal degeneration	9.4	PCARE IFT140 FAM161A
28	joubert syndrome 1	9.2	PCARE IFT140 FAM161A C8orf37 BBS2
29	inherited retinal disorder	9.1	RP1L1 PCARE IFT140 FAM161A BBS2
30	retinitis pigmentosa 55	9.0	TTC8 RP1L1 PCARE FAM161A C8orf37
31	bardet-biedl syndrome	8.8	TTC8 PCARE IFT140 FAM161A C8orf37 BBS2
32	retinitis pigmentosa 51	8.4	TTC8 RP1L1 PCARE FAM161A C8orf37 ARL2BP
33	leber plus disease	8.3	TTC8 RP1L1 PCARE IFT140 FAM161A C8orf37
34	fundus dystrophy	8.1	TTC8 RP1L1 PCARE IFT140 FAM161A C8orf37
35	retinitis pigmentosa 62	8.0	TTC8 RP1L1 PCARE IFT140 FAM161A C8orf37
36	retinitis pigmentosa 54	8.0	TTC8 RP1L1 PCARE IFT140 FAM161A C8orf37
37	retinitis pigmentosa	7.5	TTC8 RP1L1 PCARE IFT140 FAM161A C8orf37

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

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Symptoms & Phenotypes for Retinitis Pigmentosa 74

Human phenotypes related to Retinitis Pigmentosa 74:

³¹

#	Description	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:

⁵⁶

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

Clinical features from OMIM:

616562

MGI Mouse Phenotypes related to Retinitis Pigmentosa 74:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.56	ARL2BP BBS2 C8orf37 FAM161A IFT140 PCARE
2	vision/eye	MP:0005391	9.23	ARL2BP BBS2 C8orf37 FAM161A IFT140 PCARE

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Drugs & Therapeutics for Retinitis Pigmentosa 74

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 74

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Genetic Tests for Retinitis Pigmentosa 74

Genetic tests related to Retinitis Pigmentosa 74:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 74 ²⁹	BBS2

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Anatomical Context for Retinitis Pigmentosa 74

MalaCards organs/tissues related to Retinitis Pigmentosa 74:

⁴⁰

Eye, Retina

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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. ⁶ ⁵⁶	Shevach E...Sharon D	25541840	2015
2	In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. ⁶	Bakondi B...Wang S	26666451	2016
3	Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). ⁶	Ramsden SC...Manson FD	22234150	2012
4	Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. ⁶	Katsanis N...Lupski JR	11567139	2001
5	Nonsyndromic Retinitis Pigmentosa Overview ⁶	Fahim AT...Weleber RG	20301590	2000

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Genes for Retinitis Pigmentosa 74

Genes related to Retinitis Pigmentosa 74 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	1323.22	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301590 26666451 25541840 (more) 11567139 22234150
2	ARHGEF18	Rho/Rac Guanine Nucleotide Exchange Factor 18	Protein Coding	6.71	DISEASES inferred ¹⁵
3	PCARE	Photoreceptor Cilium Actin Regulator	Protein Coding	6.6	DISEASES inferred ¹⁵
4	FAM161A	FAM161 Centrosomal Protein A	Protein Coding	6.5	DISEASES inferred ¹⁵
5	C8orf37	Chromosome 8 Open Reading Frame 37	Protein Coding	6.48	DISEASES inferred ¹⁵
6	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	6.34	DISEASES inferred ¹⁵
7	RP1L1	RP1 Like 1	Protein Coding	6.33	DISEASES inferred ¹⁵
8	ARL2BP	ADP Ribosylation Factor Like GTPase 2 Binding Protein	Protein Coding	6.08	DISEASES inferred ¹⁵
9	IFT140	Intraflagellar Transport 140	Protein Coding	5.92	DISEASES inferred ¹⁵

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Variations for Retinitis Pigmentosa 74

ClinVar genetic disease variations for Retinitis Pigmentosa 74:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

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

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

⁷³

#	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

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Expression for Retinitis Pigmentosa 74

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

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Pathways for Retinitis Pigmentosa 74

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GO Terms for Retinitis Pigmentosa 74

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.11	TTC8 RP1L1 IFT140 FAM161A C8orf37 BBS2
2	cytoskeleton	GO:0005856	9.8	TTC8 RP1L1 IFT140 FAM161A BBS2 ARL2BP
3	centrosome	GO:0005813	9.78	TTC8 IFT140 FAM161A ARL2BP
4	microtubule organizing center	GO:0005815	9.76	TTC8 IFT140 BBS2 ARL2BP
5	cell projection	GO:0042995	9.7	TTC8 RP1L1 PCARE IFT140 FAM161A BBS2
6	ciliary basal body	GO:0036064	9.62	TTC8 IFT140 FAM161A BBS2
7	photoreceptor outer segment	GO:0001750	9.58	RP1L1 PCARE IFT140
8	photoreceptor inner segment	GO:0001917	9.54	PCARE FAM161A C8orf37
9	ciliary membrane	GO:0060170	9.52	TTC8 BBS2
10	non-motile cilium	GO:0097730	9.49	TTC8 IFT140
11	BBSome	GO:0034464	9.43	TTC8 BBS2
12	photoreceptor connecting cilium	GO:0032391	9.26	TTC8 RP1L1 IFT140 FAM161A
13	cilium	GO:0005929	9.17	TTC8 RP1L1 PCARE IFT140 FAM161A BBS2

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	9.67	RP1L1 PCARE FAM161A BBS2
2	visual perception	GO:0007601	9.56	RP1L1 PCARE FAM161A BBS2
3	fat cell differentiation	GO:0045444	9.43	TTC8 BBS2
4	photoreceptor cell maintenance	GO:0045494	9.4	RP1L1 BBS2
5	non-motile cilium assembly	GO:1905515	9.33	TTC8 IFT140 BBS2
6	photoreceptor cell outer segment organization	GO:0035845	9.32	PCARE IFT140
7	cilium assembly	GO:0060271	9.26	TTC8 IFT140 FAM161A BBS2
8	cell projection organization	GO:0030030	9.02	TTC8 RP1L1 IFT140 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

Sources for Retinitis Pigmentosa 74

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Retinitis Pigmentosa 74 (RP74)

Aliases & Classifications for Retinitis Pigmentosa 74

MalaCards integrated aliases for Retinitis Pigmentosa 74:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 74

Related Diseases for Retinitis Pigmentosa 74

Diseases in the Retinitis Pigmentosa family:

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

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

Symptoms & Phenotypes for Retinitis Pigmentosa 74

Human phenotypes related to Retinitis Pigmentosa 74:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Retinitis Pigmentosa 74:

Drugs & Therapeutics for Retinitis Pigmentosa 74

Genetic Tests for Retinitis Pigmentosa 74

Genetic tests related to Retinitis Pigmentosa 74:

Anatomical Context for Retinitis Pigmentosa 74

MalaCards organs/tissues related to Retinitis Pigmentosa 74:

Publications for Retinitis Pigmentosa 74

Articles related to Retinitis Pigmentosa 74:

Genes for Retinitis Pigmentosa 74

Genes related to Retinitis Pigmentosa 74 (1 elite genes):

Variations for Retinitis Pigmentosa 74

ClinVar genetic disease variations for Retinitis Pigmentosa 74:

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

Expression 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:

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

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

Sources for Retinitis Pigmentosa 74