Retinitis Pigmentosa 76 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Retinitis Pigmentosa 76

MalaCards integrated aliases for Retinitis Pigmentosa 76:

Name: Retinitis Pigmentosa 76 ⁵⁷ ⁷² ²⁹ ⁶

Rp76 ⁵⁷ ⁷²

Retinitis Pigmentosa, Type 76 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second decade of life

HPO:

³¹

retinitis pigmentosa 76:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617123

OMIM Phenotypic Series ⁵⁷ PS268000

MeSH ⁴⁴ D012174

MedGen ⁴¹ C4310704 CN238501

SNOMED-CT via HPO ⁶⁸ 13164000 193387007 258211005 more

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Summaries for Retinitis Pigmentosa 76

UniProtKB/Swiss-Prot : ⁷² Retinitis pigmentosa 76: 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. RP76 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 76, also known as rp76, is related to congenital muscular dystrophy-dystroglycanopathy type a and congenital muscular dystrophy-dystroglycanopathy type a3. An important gene associated with Retinitis Pigmentosa 76 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye, bone and retina, and related phenotypes are cystoid macular edema and reduced visual acuity

More information from OMIM: 617123 PS268000

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Related Diseases for Retinitis Pigmentosa 76

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

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	congenital muscular dystrophy-dystroglycanopathy type a	9.8	TSPAN1 POMGNT1
2	congenital muscular dystrophy-dystroglycanopathy type a3	9.8	TSPAN1 POMGNT1
3	muscular dystrophy-dystroglycanopathy	9.8	TSPAN1 POMGNT1
4	muscular dystrophy	9.7	TSPAN1 POMGNT1
5	cobblestone lissencephaly	9.7	TSPAN1 POMGNT1
6	muscular dystrophy-dystroglycanopathy , type c, 3	9.7	TSPAN1 POMGNT1
7	muscle eye brain disease	9.7	TSPAN1 POMGNT1
8	muscular dystrophy-dystroglycanopathy , type b, 3	9.7	TSPAN1 POMGNT1
9	autosomal recessive limb-girdle muscular dystrophy	9.6	TSPAN1 POMGNT1
10	muscular dystrophy-dystroglycanopathy , type a, 3	9.6	TSPAN1 POMGNT1
11	walker-warburg syndrome	9.5	TSPAN1 POMGNT1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 76:

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Symptoms & Phenotypes for Retinitis Pigmentosa 76

Human phenotypes related to Retinitis Pigmentosa 76:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	cystoid macular edema ³¹	occasional (7.5%)	HP:0011505
2	reduced visual acuity ³¹		HP:0007663
3	nyctalopia ³¹		HP:0000662
4	retinal thinning ³¹		HP:0030329
5	peripapillary atrophy ³¹		HP:0500087

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
reduced visual acuity
nyctalopia
peripapillary atrophy
macular involvement (in some patients)
attenuated retinal vessels
more

Clinical features from OMIM®:

617123 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 76 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Downregulation of Wnt pathway after Wnt3A stimulation	GR00057-A-2	8.62	POMGNT1 TSPAN1

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Drugs & Therapeutics for Retinitis Pigmentosa 76

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 76

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Genetic Tests for Retinitis Pigmentosa 76

Genetic tests related to Retinitis Pigmentosa 76:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 76 ²⁹	POMGNT1

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Anatomical Context for Retinitis Pigmentosa 76

MalaCards organs/tissues related to Retinitis Pigmentosa 76:

⁴⁰

Eye, Bone, Retina, Brain

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Publications for Retinitis Pigmentosa 76

Articles related to Retinitis Pigmentosa 76:

(show all 17)

#	Title	Authors	PMID	Year
1	Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. ⁶ ⁵⁷	Wang NH...Chen YT	27391550	2016
2	Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. ⁶ ⁵⁷	Xu M...Chen R	26908613	2016
3	Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. ⁶	Sframeli M...Muntoni F	28688748	2017
4	Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. ⁶	Valencia CA...Hegde M	23326386	2013
5	Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ⁶	Saredi S...Mora M	22554691	2012
6	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. ⁶	Devisme L...Encha-Razavi F	22323514	2012
7	Novel retinal findings in an infant with muscle-eye-brain disease. ⁶	Khan M...Recchia FM	25390965	2012
8	Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ⁶	Voglmeir J...Flitsch SL	21361872	2011
9	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ⁶	Mercuri E...Bertini E	19299310	2009
10	Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. ⁶	Oliveira J...Santos R	18330676	2008
11	Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ⁶	Hehr U...Winkler J	17906881	2007
12	Molecular heterogeneity in fetal forms of type II lissencephaly. ⁶	Bouchet C...Seta N	17559086	2007
13	POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. ⁶	Biancheri R...Bruno C	17030669	2006
14	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ⁶	Diesen C...Lehesjoki AE	15466003	2004
15	POMGnT1 gene alterations in a family with neurological abnormalities. ⁶	Vervoort VS...Srivastava AK	15236414	2004
16	Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. ⁶	Yoshida A...Endo T	11709191	2001
17	Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors. ⁶¹	Liu Y...Hu H	32385361	2020

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Genes for Retinitis Pigmentosa 76

Genes related to Retinitis Pigmentosa 76 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	1343.25	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26908613 15466003 22554691 (more) 17030669
2	TSPAN1	Tetraspanin 1	Protein Coding	433.67	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	26908613 15466003 22554691 (more) 17030669

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Variations for Retinitis Pigmentosa 76

ClinVar genetic disease variations for Retinitis Pigmentosa 76:

⁶ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1895+1G>A	SNV	Pathogenic	56592	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
2	POMGNT1	NM_001290130.1(POMGNT1):c.-243C>T	SNV	Pathogenic	3994	rs193919337	GRCh37: 1:46662690-46662690 GRCh38: 1:46197018-46197018
3	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala)	SNV	Pathogenic	254274	rs886037948	GRCh37: 1:46657804-46657804 GRCh38: 1:46192132-46192132
4	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys)	SNV	Pathogenic	254272	rs886037947	GRCh37: 1:46661551-46661551 GRCh38: 1:46195879-46195879
5	POMGNT1 , TSPAN1	NM_001290130.1(POMGNT1):c.-71T>G	SNV	Pathogenic	254275	rs886037949	GRCh37: 1:46661745-46661745 GRCh38: 1:46196073-46196073
6	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1285-2A>G	SNV	Pathogenic	56578	rs386834012	GRCh37: 1:46658110-46658110 GRCh38: 1:46192438-46192438
7	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser)	SNV	Pathogenic	254270	rs200863680	GRCh37: 1:46659965-46659965 GRCh38: 1:46194293-46194293
8	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1539+1G>A	SNV	Pathogenic	56582	rs138642840	GRCh37: 1:46657769-46657769 GRCh38: 1:46192097-46192097
9	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)	SNV	Pathogenic	4000	rs267606960	GRCh37: 1:46657840-46657840 GRCh38: 1:46192168-46192168
10	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1539+1G>A	SNV	Pathogenic	56582	rs138642840	GRCh37: 1:46657769-46657769 GRCh38: 1:46192097-46192097
11	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1895+1G>T	SNV	Pathogenic	56593	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
12	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)	SNV	Likely pathogenic	56604	rs386834034	GRCh37: 1:46660525-46660525 GRCh38: 1:46194853-46194853
13	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV	Likely pathogenic	3992	rs28940869	GRCh37: 1:46658069-46658069 GRCh38: 1:46192397-46192397
14	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)	SNV	Likely pathogenic	265399	rs190057175	GRCh37: 1:46660532-46660532 GRCh38: 1:46194860-46194860
15	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter)	SNV	Likely pathogenic	56610	rs386834039	GRCh37: 1:46659546-46659546 GRCh38: 1:46193874-46193874
16	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln)	SNV	Uncertain significance	422459	rs766382416	GRCh37: 1:46657846-46657846 GRCh38: 1:46192174-46192174
17	POMGNT1 , TSPAN1	NM_001243766.1(POMGNT1):c.1438C>T (p.Arg480Trp)	SNV	Uncertain significance	595996	rs1011150724	GRCh37: 1:46657871-46657871 GRCh38: 1:46192199-46192199
18	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.355G>A (p.Val119Met)	SNV	Uncertain significance	423754	rs148498470	GRCh37: 1:46661749-46661749 GRCh38: 1:46196077-46196077
19	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn)	SNV	Uncertain significance	162588	rs142485035	GRCh37: 1:46659986-46659986 GRCh38: 1:46194314-46194314
20	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly)	SNV	Uncertain significance	291060	rs534543454	GRCh37: 1:46657853-46657853 GRCh38: 1:46192181-46192181
21	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr)	SNV	Uncertain significance	285192	rs138745073	GRCh37: 1:46659252-46659252 GRCh38: 1:46193580-46193580
22	POMGNT1	NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser)	SNV	Uncertain significance	162590	rs375420073	GRCh37: 1:46662438-46662438 GRCh38: 1:46196766-46196766
23	POMGNT1	NM_017739.3(POMGNT1):c.269G>A (p.Arg90His)	SNV	Uncertain significance	290280	rs139701867	GRCh37: 1:46662488-46662488 GRCh38: 1:46196816-46196816

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 76:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	POMGNT1	p.Glu156Lys	VAR_076524	rs886037947
2	POMGNT1	p.Ile287Ser	VAR_076525	rs200863680
3	POMGNT1	p.Gly502Ala	VAR_076526	rs886037948
4	POMGNT1	p.Leu120Arg	VAR_077054	rs886037949

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Expression for Retinitis Pigmentosa 76

Search GEO for disease gene expression data for Retinitis Pigmentosa 76.

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Pathways for Retinitis Pigmentosa 76

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GO Terms for Retinitis Pigmentosa 76

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Sources for Retinitis Pigmentosa 76

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Retinitis Pigmentosa 76 (RP76)

Aliases & Classifications for Retinitis Pigmentosa 76

MalaCards integrated aliases for Retinitis Pigmentosa 76:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 76

Related Diseases for Retinitis Pigmentosa 76

Diseases in the Retinitis Pigmentosa family:

Diseases related to Retinitis Pigmentosa 76 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 76:

Symptoms & Phenotypes for Retinitis Pigmentosa 76

Human phenotypes related to Retinitis Pigmentosa 76:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 76 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Retinitis Pigmentosa 76

Genetic Tests for Retinitis Pigmentosa 76

Genetic tests related to Retinitis Pigmentosa 76:

Anatomical Context for Retinitis Pigmentosa 76

MalaCards organs/tissues related to Retinitis Pigmentosa 76:

Publications for Retinitis Pigmentosa 76

Articles related to Retinitis Pigmentosa 76:

Genes for Retinitis Pigmentosa 76

Genes related to Retinitis Pigmentosa 76 (2 elite genes):

Variations for Retinitis Pigmentosa 76

ClinVar genetic disease variations for Retinitis Pigmentosa 76:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 76:

Expression for Retinitis Pigmentosa 76

Pathways for Retinitis Pigmentosa 76

GO Terms for Retinitis Pigmentosa 76

Sources for Retinitis Pigmentosa 76