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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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 ⁵⁸ 616562

MeSH ⁴⁵ D012174

ICD10 ³⁴ H35.5

MedGen ⁴³ C4225281 CN232915

SNOMED-CT via HPO ⁷⁰ 1151008 258211005 267628004 more

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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

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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
Nonsyndromic Retinitis Pigmentosa

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Symptoms & Phenotypes for Retinitis Pigmentosa 74

Human phenotypes related to Retinitis Pigmentosa 74:

³³

#	Description	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

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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 ³⁰	BBS2

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Anatomical Context for Retinitis Pigmentosa 74

MalaCards organs/tissues related to Retinitis Pigmentosa 74:

⁴²

Eye

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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 )	Shevach E...Sharon D	2015
2	Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. ( 11567139 )	Katsanis N...Lupski JR	2001

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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	1328.13	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	11567139 25541840

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Variations for Retinitis Pigmentosa 74

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

⁷⁶

#	Symbol	AA change	Variation 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

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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

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Sources for Retinitis Pigmentosa 74

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

Symptoms & Phenotypes for Retinitis Pigmentosa 74

Human phenotypes related to Retinitis Pigmentosa 74:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

ClinVar genetic disease variations for Retinitis Pigmentosa 74:

Expression for Retinitis Pigmentosa 74

Pathways for Retinitis Pigmentosa 74

GO Terms for Retinitis Pigmentosa 74

Sources for Retinitis Pigmentosa 74