Retinitis Pigmentosa 35 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 35

MalaCards integrated aliases for Retinitis Pigmentosa 35:

Name: Retinitis Pigmentosa 35 ⁵⁷ ¹² ²⁰ ⁷³ ²⁹ ¹³ ⁶ ¹⁵ ⁷¹

Rp35 ⁵⁷ ¹² ⁷³

Retinitis Pigmentosa, Type 35 ³⁹

Rp 35 ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
allelic with cone-rod dystrophy 10

HPO:

³¹

retinitis pigmentosa 35:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear 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:0110357

OMIM® ⁵⁷ 610282

OMIM Phenotypic Series ⁵⁷ PS268000

MeSH ⁴⁴ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C1853214

SNOMED-CT via HPO ⁶⁸ 258211005 263681008 28835009 more

UMLS ⁷¹ C1853214

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Summaries for Retinitis Pigmentosa 35

UniProtKB/Swiss-Prot : ⁷³ Retinitis pigmentosa 35: 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 35, also known as rp35, is related to retinitis pigmentosa 25 and cone-rod dystrophy 15. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. Affiliated tissues include eye, retina and bone, and related phenotypes are blindness and nyctalopia

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the SEMA4A gene on chromosome 1q22.

More information from OMIM: 610282 PS268000

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Related Diseases for Retinitis Pigmentosa 35

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 35 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa 25	10.1	RPGR CDHR1
2	cone-rod dystrophy 15	10.0	CNGB1 CDHR1
3	color blindness	9.9	RPGR CNGB1
4	cone-rod dystrophy 6	9.9	RPGR CNGB1
5	leber congenital amaurosis 10	9.9	RPGR RDH12
6	retinitis	9.8	SEMA4A RPGR CNGB1
7	leber congenital amaurosis 2	9.8	RPGR RDH12
8	fundus albipunctatus	9.8	RPGR RDH12
9	usher syndrome type 2	9.8	RPGR CNGB1
10	pathologic nystagmus	9.7	RPGR RDH12
11	stargardt disease	9.6	RPGR RDH12 CDHR1
12	usher syndrome, type iiia	9.6	RDH12 CNGB1
13	senior-loken syndrome 1	9.5	RPGR RDH12
14	eye degenerative disease	9.5	RPGR RDH12 CNGB1
15	achromatopsia	9.5	RPGR RDH12 CNGB1
16	congenital stationary night blindness	9.5	RPGR RDH12 CNGB1
17	bardet-biedl syndrome	9.5	RPGR RDH12 CNGB1
18	cone dystrophy	9.3	RPGR RDH12 CNGB1 CDHR1
19	usher syndrome	9.3	RPGR RDH12 CNGB1 CDHR1
20	leber plus disease	9.3	RPGR RDH12 CNGB1 CDHR1
21	retinitis pigmentosa	9.2	SEMA4A RPGR RDH12 CNGB1 CDHR1
22	retinal disease	9.2	SEMA4A RPGR RDH12 CNGB1 CDHR1
23	fundus dystrophy	9.1	SEMA4A RPGR RDH12 CNGB1 CDHR1
24	cone-rod dystrophy 2	9.1	SEMA4A RPGR RDH12 CNGB1 CDHR1
25	retinal degeneration	8.9	SEMA4A RPGR RDH12 PPEF1 CNGB1 CDHR1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 35:

Sources

Symptoms & Phenotypes for Retinitis Pigmentosa 35

Human phenotypes related to Retinitis Pigmentosa 35:

³¹

#	Description	HPO Source Accession
1	blindness ³¹	HP:0000618
2	nyctalopia ³¹	HP:0000662
3	abnormality of skin pigmentation ³¹	HP:0001000
4	rod-cone dystrophy ³¹	HP:0000510
5	cone/cone-rod dystrophy ³¹	HP:0000548

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Eyes:
night blindness followed by complete blindness
bone corpuscle-like pigmentation in equatorial and peripheral areas
attenuated blood vessels in periphery
macula clear in early stages

Clinical features from OMIM®:

610282 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 35:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.02	CDHR1 PPEF1 RDH12 RPGR SEMA4A

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Drugs & Therapeutics for Retinitis Pigmentosa 35

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 35

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Genetic Tests for Retinitis Pigmentosa 35

Genetic tests related to Retinitis Pigmentosa 35:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 35 ²⁹	SEMA4A

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Anatomical Context for Retinitis Pigmentosa 35

MalaCards organs/tissues related to Retinitis Pigmentosa 35:

⁴⁰

Eye, Retina, Bone, Cervix, Lung

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Publications for Retinitis Pigmentosa 35

Articles related to Retinitis Pigmentosa 35:

(show all 14)

#	Title	Authors	PMID	Year
1	Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. ⁵⁷ ⁶	Abid A...Khaliq S	16199541	2006
2	Yeast Associated with Rice Phylloplane and Their Contribution to Control of Rice Sheath Blight Disease. ⁶¹	Into P...Limtong S	32138375	2020
3	Biological Control of Fruit Rot and Anthracnose of Postharvest Mango by Antagonistic Yeasts from Economic Crops Leaves. ⁶¹	Konsue W...Limtong S	32106522	2020
4	Relative frequency of inherited retinal dystrophies in Brazil. ⁶¹	Motta FL...Sallum JMF	30374144	2018
5	Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. ⁶¹	Shankar SP...Daiger SP	25675413	2015
6	Pulmonary granulomas caused experimentally in mice by a recombinant trigger-factor protein of Propionibacterium acnes. ⁶¹	Minami J...Koike M	15074354	2003
7	The ATPase domain of hsp70 possesses a unique binding specificity for 3'-sulfogalactolipids. ⁶¹	Mamelak D...Lingwood C	11024054	2001
8	Proliferative response of peripheral blood mononuclear cells and levels of antibody to recombinant protein from Propionibacterium acnes DNA expression library in Japanese patients with sarcoidosis. ⁶¹	Ebe Y...Eishi Y	11033841	2000
9	Serodiagnosis of recently acquired Toxoplasma gondii infection using an enzyme-linked immunosorbent assay with a combination of recombinant antigens. ⁶¹	Li S...Parmley S	10973455	2000
10	Serodiagnosis of recently acquired Toxoplasma gondii infection with a recombinant antigen. ⁶¹	Li S...Parmley S	10618084	2000
11	[Clinical significance of oncogene product expression in human lung cancer]. ⁶¹	Dosaka-Akita H...Kawakami Y	1331597	1992
12	Ras oncogene expression and progression in intraepithelial neoplasia of the uterine cervix. ⁶¹	Sagae S...Hashimoto M	2196111	1990
13	ras oncogene expression and prognosis of invasive squamous cell carcinomas of the uterine cervix. ⁶¹	Sagae S...Hashimoto M	2647277	1989
14	[An attempt at using monoclonal antibodies to oncogene products]. ⁶¹	Kuzumaki N	3300558	1987

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Genes for Retinitis Pigmentosa 35

Genes related to Retinitis Pigmentosa 35 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SEMA4A	Semaphorin 4A	Protein Coding	1322.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16199541
2	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	6.24	DISEASES inferred ¹⁵
3	CDHR1	Cadherin Related Family Member 1	Protein Coding	6.24	DISEASES inferred ¹⁵
4	PPEF1	Protein Phosphatase With EF-Hand Domain 1	Protein Coding	5.95	DISEASES inferred ¹⁵
5	POLD3	DNA Polymerase Delta 3, Accessory Subunit	Protein Coding	5.93	DISEASES inferred ¹⁵
6	CNGB1	Cyclic Nucleotide Gated Channel Subunit Beta 1	Protein Coding	5.92	DISEASES inferred ¹⁵
7	RDH12	Retinol Dehydrogenase 12	Protein Coding	5.72	DISEASES inferred ¹⁵
8	CNTN6	Contactin 6	Protein Coding	5.61	DISEASES inferred ¹⁵

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Variations for Retinitis Pigmentosa 35

ClinVar genetic disease variations for Retinitis Pigmentosa 35:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SEMA4A	NM_022367.4(SEMA4A):c.1033G>C (p.Asp345His)	SNV	Pathogenic	3360	rs267607033	1:156132784-156132784	1:156162993-156162993
2	SEMA4A	NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)	SNV	Pathogenic	3361	rs267607034	1:156132800-156132800	1:156163009-156163009
3	SEMA4A	NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)	SNV	Pathogenic	3362	rs41265017	1:156146640-156146640	1:156176849-156176849

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 35:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SEMA4A	p.Asp345His	VAR_028322	rs267607033
2	SEMA4A	p.Phe350Cys	VAR_028323	rs267607034

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Expression for Retinitis Pigmentosa 35

Search GEO for disease gene expression data for Retinitis Pigmentosa 35.

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Pathways for Retinitis Pigmentosa 35

Pathways related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.46	RDH12 PPEF1 CNGB1
2	Visual Cycle in Retinal Rods ⁶³	11.13	RDH12 CNGB1
3	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	10.99	RDH12 PPEF1 CNGB1

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GO Terms for Retinitis Pigmentosa 35

Cellular components related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor outer segment	GO:0001750	8.62	RPGR CNGB1

Biological processes related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.5	RPGR RDH12 CNGB1
2	visual perception	GO:0007601	9.33	RPGR RDH12 CNGB1
3	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.26	PPEF1 CNGB1
4	photoreceptor cell outer segment organization	GO:0035845	8.96	CNGB1 CDHR1
5	photoreceptor cell maintenance	GO:0045494	8.8	RDH12 CNGB1 CDHR1

Sources

Sources for Retinitis Pigmentosa 35

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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 35 (RP35)

Aliases & Classifications for Retinitis Pigmentosa 35

MalaCards integrated aliases for Retinitis Pigmentosa 35:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 35

Related Diseases for Retinitis Pigmentosa 35

Diseases in the Retinitis Pigmentosa family:

Diseases related to Retinitis Pigmentosa 35 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 35:

Symptoms & Phenotypes for Retinitis Pigmentosa 35

Human phenotypes related to Retinitis Pigmentosa 35:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Retinitis Pigmentosa 35:

Drugs & Therapeutics for Retinitis Pigmentosa 35

Genetic Tests for Retinitis Pigmentosa 35

Genetic tests related to Retinitis Pigmentosa 35:

Anatomical Context for Retinitis Pigmentosa 35

MalaCards organs/tissues related to Retinitis Pigmentosa 35:

Publications for Retinitis Pigmentosa 35

Articles related to Retinitis Pigmentosa 35:

Genes for Retinitis Pigmentosa 35

Genes related to Retinitis Pigmentosa 35 (1 elite genes):

Variations for Retinitis Pigmentosa 35

ClinVar genetic disease variations for Retinitis Pigmentosa 35:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 35:

Expression for Retinitis Pigmentosa 35

Pathways for Retinitis Pigmentosa 35

Pathways related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

GO Terms for Retinitis Pigmentosa 35

Cellular components related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

Biological processes related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

Sources for Retinitis Pigmentosa 35