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 ⁷⁵ ²⁹ ⁶

Rp76 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second decade of life

HPO:

³²

retinitis pigmentosa 76:
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 617123

MedGen ⁴² C4310704 CN238501

MeSH ⁴⁴ D012174

SNOMED-CT via HPO ⁶⁹ 258211005 65194006 13164000 more

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Summaries for Retinitis Pigmentosa 76

UniProtKB/Swiss-Prot : ⁷⁵ 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 alpha-dystroglycanopathy with brain and eye anomalies and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 76 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include retina and bone, and related phenotypes are nyctalopia and reduced visual acuity

Description from OMIM: 617123

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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	Nonsyndromic Retinitis Pigmentosa

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

#	Related Disease	Score	Top Affiliating Genes
1	congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	9.2	POMGNT1 TSPAN1
2	retinitis pigmentosa	9.0	POMGNT1 TSPAN1

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Symptoms & Phenotypes for Retinitis Pigmentosa 76

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nyctalopia
reduced visual acuity
restricted visual fields
bone-spicule pigment proliferation
salt-and-pepper pigment proliferation
more

Clinical features from OMIM:

617123

Human phenotypes related to Retinitis Pigmentosa 76:

³²

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

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:

⁴¹

Retina, Bone

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Publications for Retinitis Pigmentosa 76

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Genes for Retinitis Pigmentosa 76

Genes related to Retinitis Pigmentosa 76 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	1353.44	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15466003 22554691 26908613 (more) 27391550
2	TSPAN1	Tetraspanin 1	Protein Coding	8.41	GeneCards inferred via : Variants (show sections)

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Variations for Retinitis Pigmentosa 76

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

⁷⁵

#	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

ClinVar genetic disease variations for Retinitis Pigmentosa 76:

⁶

(show all 13)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	POMGNT1	NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter)	single nucleotide variant	Pathogenic	rs193919337	GRCh37	Chromosome 1, 46662690: 46662690
2	POMGNT1	NM_001243766.1(POMGNT1): c.187C> T (p.Arg63Ter)	single nucleotide variant	Pathogenic	rs193919337	GRCh38	Chromosome 1, 46197018: 46197018
3	POMGNT1	NM_017739.3(POMGNT1): c.1895+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs386834024	GRCh37	Chromosome 1, 46655129: 46655129
4	POMGNT1	NM_017739.3(POMGNT1): c.1895+1G> A	single nucleotide variant	Pathogenic/Likely pathogenic	rs386834024	GRCh38	Chromosome 1, 46189457: 46189457
5	POMGNT1	NM_001243766.1(POMGNT1): c.860T> G (p.Ile287Ser)	single nucleotide variant	Pathogenic	rs200863680	GRCh38	Chromosome 1, 46194293: 46194293
6	POMGNT1	NM_001243766.1(POMGNT1): c.860T> G (p.Ile287Ser)	single nucleotide variant	Pathogenic	rs200863680	GRCh37	Chromosome 1, 46659965: 46659965
7	POMGNT1	NM_017739.3(POMGNT1): c.466G> A (p.Glu156Lys)	single nucleotide variant	Pathogenic	rs886037947	GRCh38	Chromosome 1, 46195879: 46195879
8	POMGNT1	NM_017739.3(POMGNT1): c.466G> A (p.Glu156Lys)	single nucleotide variant	Pathogenic	rs886037947	GRCh37	Chromosome 1, 46661551: 46661551
9	POMGNT1	NM_017739.3(POMGNT1): c.1505G> C (p.Gly502Ala)	single nucleotide variant	Pathogenic	rs886037948	GRCh38	Chromosome 1, 46192132: 46192132
10	POMGNT1	NM_017739.3(POMGNT1): c.1505G> C (p.Gly502Ala)	single nucleotide variant	Pathogenic	rs886037948	GRCh37	Chromosome 1, 46657804: 46657804
11	POMGNT1	NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg)	single nucleotide variant	Pathogenic	rs886037949	GRCh37	Chromosome 1, 46661745: 46661745
12	POMGNT1	NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg)	single nucleotide variant	Pathogenic	rs886037949	GRCh38	Chromosome 1, 46196073: 46196073
13	POMGNT1	NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg)	single nucleotide variant	Pathogenic	rs886037949	NCBI36	Chromosome 1, 46434332: 46434332

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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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