Retinitis Pigmentosa 85 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 85

MalaCards integrated aliases for Retinitis Pigmentosa 85:

Name: Retinitis Pigmentosa 85 ⁵⁸ ⁶

Rp85 ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
based on a report of one family (last curated march 2019)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 618345

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Summaries for Retinitis Pigmentosa 85

MalaCards based summary : Retinitis Pigmentosa 85, is also known as rp85. An important gene associated with Retinitis Pigmentosa 85 is AHR (Aryl Hydrocarbon Receptor). Affiliated tissues include retina and eye.

Description from OMIM: 618345

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Related Diseases for Retinitis Pigmentosa 85

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 85

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
progressive reduction in night vision
progressive reduction in visual acuity
pigment deposits in fundus
pale retina
disorganized photoreceptor layers seen on optical coherence tomography
more

Clinical features from OMIM:

618345

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Drugs & Therapeutics for Retinitis Pigmentosa 85

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 85

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Genetic Tests for Retinitis Pigmentosa 85

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Anatomical Context for Retinitis Pigmentosa 85

MalaCards organs/tissues related to Retinitis Pigmentosa 85:

⁴²

Retina, Eye

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Publications for Retinitis Pigmentosa 85

Articles related to Retinitis Pigmentosa 85:

#	Title	Authors	Year
1	A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. ( 29726989 )	Zhou Y...Yang Z	2018

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Genes for Retinitis Pigmentosa 85

Genes related to Retinitis Pigmentosa 85 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AHR	Aryl Hydrocarbon Receptor	Protein Coding	950	Molecular basis known ⁵⁸ Pathogenic ⁶ Unconfirmed association ⁵⁸	29726989

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Variations for Retinitis Pigmentosa 85

ClinVar genetic disease variations for Retinitis Pigmentosa 85:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AHR	NM_001621.5(AHR): c.1160+1G> A	single nucleotide variant	Pathogenic		GRCh37	Chromosome 7, 17375411: 17375411
2	AHR	NM_001621.5(AHR): c.1160+1G> A	single nucleotide variant	Pathogenic		GRCh38	Chromosome 7, 17335787: 17335787

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Expression for Retinitis Pigmentosa 85

Search GEO for disease gene expression data for Retinitis Pigmentosa 85.

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Pathways for Retinitis Pigmentosa 85

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GO Terms for Retinitis Pigmentosa 85

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Sources for Retinitis Pigmentosa 85

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⁷⁷ Wikipedia

Retinitis Pigmentosa 85 (RP85)

Aliases & Classifications for Retinitis Pigmentosa 85

MalaCards integrated aliases for Retinitis Pigmentosa 85:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 85

Related Diseases for Retinitis Pigmentosa 85

Diseases in the Retinitis Pigmentosa family:

Symptoms & Phenotypes for Retinitis Pigmentosa 85

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Retinitis Pigmentosa 85

Genetic Tests for Retinitis Pigmentosa 85

Anatomical Context for Retinitis Pigmentosa 85

MalaCards organs/tissues related to Retinitis Pigmentosa 85:

Publications for Retinitis Pigmentosa 85

Articles related to Retinitis Pigmentosa 85:

Genes for Retinitis Pigmentosa 85

Genes related to Retinitis Pigmentosa 85 (1 elite genes):

Variations for Retinitis Pigmentosa 85

ClinVar genetic disease variations for Retinitis Pigmentosa 85:

Expression for Retinitis Pigmentosa 85

Pathways for Retinitis Pigmentosa 85

GO Terms for Retinitis Pigmentosa 85

Sources for Retinitis Pigmentosa 85