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RP76
MCID: RTN190
MIFTS: 28

Retinitis Pigmentosa 76 (RP76)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Retinitis Pigmentosa 76

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MalaCards integrated aliases for Retinitis Pigmentosa 76:

Name: Retinitis Pigmentosa 76 58 76 30 6
Rp76 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second decade of life


HPO:

33
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 58 617123
MeSH 45 D012174
Sources

Summaries for Retinitis Pigmentosa 76

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UniProtKB/Swiss-Prot : 76 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 eye, brain and bone, and related phenotypes are cystoid macular edema and reduced visual acuity

Description from OMIM: 617123
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Related Diseases for Retinitis Pigmentosa 76

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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

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 9.7 POMGNT1 TSPAN1
2 retinitis pigmentosa 9.6 POMGNT1 TSPAN1
3 muscle eye brain disease 9.5 POMGNT1 TSPAN1

Sources

Symptoms & Phenotypes for Retinitis Pigmentosa 76

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Human phenotypes related to Retinitis Pigmentosa 76:

33
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 33 occasional (7.5%) HP:0011505
2 reduced visual acuity 33 HP:0007663
3 nyctalopia 33 HP:0000662
4 retinal thinning 33 HP:0030329
5 peripapillary atrophy 33 HP:0500087

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
reduced visual acuity
nyctalopia
macular involvement (in some patients)
attenuated retinal vessels
peripapillary atrophy
more

Clinical features from OMIM:

617123

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 8.62 POMGNT1 TSPAN1
Sources

Drugs & Therapeutics for Retinitis Pigmentosa 76

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Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 76

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Genetic Tests for Retinitis Pigmentosa 76

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Genetic tests related to Retinitis Pigmentosa 76:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 76 30 POMGNT1
Sources

Anatomical Context for Retinitis Pigmentosa 76

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MalaCards organs/tissues related to Retinitis Pigmentosa 76:

42
Eye, Brain, Bone, Retina
Sources

Publications for Retinitis Pigmentosa 76

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Articles related to Retinitis Pigmentosa 76:

# Title Authors Year
1
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. ( 27391550 )
2016
2
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. ( 26908613 )
2016
3
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ( 22554691 )
2012
4
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ( 15466003 )
2004
Sources

Variations for Retinitis Pigmentosa 76

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

76
# 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 29)
# 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.1469G> A (p.Cys490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
4 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs267606960 GRCh38 Chromosome 1, 46192168: 46192168
5 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
6 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
7 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
8 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh38 Chromosome 1, 46189457: 46189457
9 POMGNT1 NM_017739.3(POMGNT1): c.839G> A (p.Ser280Asn) single nucleotide variant Uncertain significance rs142485035 GRCh38 Chromosome 1, 46194314: 46194314
10 POMGNT1 NM_017739.3(POMGNT1): c.839G> A (p.Ser280Asn) single nucleotide variant Uncertain significance rs142485035 GRCh37 Chromosome 1, 46659986: 46659986
11 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh38 Chromosome 1, 46196766: 46196766
12 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh37 Chromosome 1, 46662438: 46662438
13 POMGNT1 NM_001243766.1(POMGNT1): c.860T> G (p.Ile287Ser) single nucleotide variant Pathogenic rs200863680 GRCh38 Chromosome 1, 46194293: 46194293
14 POMGNT1 NM_001243766.1(POMGNT1): c.860T> G (p.Ile287Ser) single nucleotide variant Pathogenic rs200863680 GRCh37 Chromosome 1, 46659965: 46659965
15 POMGNT1 NM_017739.3(POMGNT1): c.466G> A (p.Glu156Lys) single nucleotide variant Pathogenic rs886037947 GRCh38 Chromosome 1, 46195879: 46195879
16 POMGNT1 NM_017739.3(POMGNT1): c.466G> A (p.Glu156Lys) single nucleotide variant Pathogenic rs886037947 GRCh37 Chromosome 1, 46661551: 46661551
17 POMGNT1 NM_017739.3(POMGNT1): c.1505G> C (p.Gly502Ala) single nucleotide variant Pathogenic rs886037948 GRCh38 Chromosome 1, 46192132: 46192132
18 POMGNT1 NM_017739.3(POMGNT1): c.1505G> C (p.Gly502Ala) single nucleotide variant Pathogenic rs886037948 GRCh37 Chromosome 1, 46657804: 46657804
19 POMGNT1 NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg) single nucleotide variant Pathogenic rs886037949 GRCh37 Chromosome 1, 46661745: 46661745
20 POMGNT1 NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg) single nucleotide variant Pathogenic rs886037949 GRCh38 Chromosome 1, 46196073: 46196073
21 POMGNT1 NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg) single nucleotide variant Pathogenic rs886037949 NCBI36 Chromosome 1, 46434332: 46434332
22 POMGNT1 NM_017739.3(POMGNT1): c.1010T> C (p.Ile337Thr) single nucleotide variant Uncertain significance rs138745073 GRCh37 Chromosome 1, 46659252: 46659252
23 POMGNT1 NM_017739.3(POMGNT1): c.1010T> C (p.Ile337Thr) single nucleotide variant Uncertain significance rs138745073 GRCh38 Chromosome 1, 46193580: 46193580
24 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh37 Chromosome 1, 46662488: 46662488
25 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh38 Chromosome 1, 46196816: 46196816
26 POMGNT1 NM_017739.3(POMGNT1): c.1456C> G (p.Arg486Gly) single nucleotide variant Uncertain significance rs534543454 GRCh37 Chromosome 1, 46657853: 46657853
27 POMGNT1 NM_017739.3(POMGNT1): c.1456C> G (p.Arg486Gly) single nucleotide variant Uncertain significance rs534543454 GRCh38 Chromosome 1, 46192181: 46192181
28 POMGNT1 NM_017739.3(POMGNT1): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs148498470 GRCh38 Chromosome 1, 46196077: 46196077
29 POMGNT1 NM_017739.3(POMGNT1): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs148498470 GRCh37 Chromosome 1, 46661749: 46661749
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Expression for Retinitis Pigmentosa 76

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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