Retinitis Pigmentosa 77 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 77

MalaCards integrated aliases for Retinitis Pigmentosa 77:

Name: Retinitis Pigmentosa 77 ⁵⁷ ⁷⁵ ⁶

Rp77 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms ranges from early childhood to age 20 years

HPO:

³²

retinitis pigmentosa 77:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617304

MedGen ⁴² C4310626 CN239959

MeSH ⁴⁴ D012174

SNOMED-CT via HPO ⁶⁹ 258211005 65194006 13164000 more

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Summaries for Retinitis Pigmentosa 77

UniProtKB/Swiss-Prot : ⁷⁵ Retinitis pigmentosa 77: A form of retinitis pigmentosa, 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. RP77 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 77, is also known as rp77. An important gene associated with Retinitis Pigmentosa 77 is REEP6 (Receptor Accessory Protein 6). Affiliated tissues include bone, and related phenotypes are nyctalopia and reduced visual acuity

Description from OMIM: 617304

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Related Diseases for Retinitis Pigmentosa 77

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

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Symptoms & Phenotypes for Retinitis Pigmentosa 77

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nyctalopia
reduced peripheral visual fields, progressive
reduced visual acuity, progressive
posterior subcapsular cataracts
attenuated retinal vessels
more

Clinical features from OMIM:

617304

Human phenotypes related to Retinitis Pigmentosa 77:

³²

#	Description	HPO Frequency	HPO Source Accession
1	nyctalopia ³²		HP:0000662
2	reduced visual acuity ³²		HP:0007663
3	posterior subcapsular cataract ³²		HP:0007787
4	cystoid macular edema ³²	occasional (7.5%)	HP:0011505

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Drugs & Therapeutics for Retinitis Pigmentosa 77

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 77

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Genetic Tests for Retinitis Pigmentosa 77

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Anatomical Context for Retinitis Pigmentosa 77

MalaCards organs/tissues related to Retinitis Pigmentosa 77:

⁴¹

Bone

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Publications for Retinitis Pigmentosa 77

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Genes for Retinitis Pigmentosa 77

Genes related to Retinitis Pigmentosa 77 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	REEP6	Receptor Accessory Protein 6	Protein Coding	1238.25	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	27889058

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Variations for Retinitis Pigmentosa 77

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 77:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	REEP6	p.Pro128Leu	VAR_077931	rs1057519317Retinitis
2	REEP6	p.Leu135Pro	VAR_077932	rs1057519316Retinitis

ClinVar genetic disease variations for Retinitis Pigmentosa 77:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	REEP6	NM_138393.2(REEP6): c.404T> C (p.Leu135Pro)	single nucleotide variant	Pathogenic	rs1057519316	GRCh38	Chromosome 19, 1496340: 1496340
2	REEP6	NM_138393.2(REEP6): c.404T> C (p.Leu135Pro)	single nucleotide variant	Pathogenic	rs1057519316	GRCh37	Chromosome 19, 1496339: 1496339
3	REEP6	NM_001329556.1(REEP6): c.557dupC (p.Val187Glyfs)	duplication	Pathogenic	rs1057519427	GRCh38	Chromosome 19, 1496630: 1496630
4	REEP6	NM_001329556.1(REEP6): c.557dupC (p.Val187Glyfs)	duplication	Pathogenic	rs1057519427	GRCh37	Chromosome 19, 1496629: 1496629
5	REEP6	NM_138393.2(REEP6): c.383C> T (p.Pro128Leu)	single nucleotide variant	Pathogenic	rs1057519317	GRCh38	Chromosome 19, 1496319: 1496319
6	REEP6	NM_138393.2(REEP6): c.383C> T (p.Pro128Leu)	single nucleotide variant	Pathogenic	rs1057519317	GRCh37	Chromosome 19, 1496318: 1496318
7	REEP6	NM_138393.2(REEP6): c.448delG (p.Ala150Profs)	deletion	Pathogenic	rs1057519341	GRCh38	Chromosome 19, 1496384: 1496384
8	REEP6	NM_138393.2(REEP6): c.448delG (p.Ala150Profs)	deletion	Pathogenic	rs1057519341	GRCh37	Chromosome 19, 1496383: 1496383

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Expression for Retinitis Pigmentosa 77

Search GEO for disease gene expression data for Retinitis Pigmentosa 77.

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Pathways for Retinitis Pigmentosa 77

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GO Terms for Retinitis Pigmentosa 77

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Sources for Retinitis Pigmentosa 77

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia