RP76
MCID: RTN190
MIFTS: 27

Retinitis Pigmentosa 76 (RP76)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 76

MalaCards integrated aliases for Retinitis Pigmentosa 76:

Name: Retinitis Pigmentosa 76 57 74 29 6
Rp76 57 74

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:



External Ids:

MeSH 44 D012174

Summaries for Retinitis Pigmentosa 76

UniProtKB/Swiss-Prot : 74 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 retinitis pigmentosa and muscle eye brain disease. An important gene associated with Retinitis Pigmentosa 76 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include bone, retina and brain, and related phenotypes are cystoid macular edema and reduced visual acuity

More information from OMIM: 617123 PS268000

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
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 retinitis pigmentosa 9.4 TSPAN1 POMGNT1
2 muscle eye brain disease 9.2 TSPAN1 POMGNT1

Symptoms & Phenotypes for Retinitis Pigmentosa 76

Human phenotypes related to Retinitis Pigmentosa 76:

32
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 32 occasional (7.5%) HP:0011505
2 reduced visual acuity 32 HP:0007663
3 nyctalopia 32 HP:0000662
4 retinal thinning 32 HP:0030329
5 peripapillary atrophy 32 HP:0500087

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
reduced visual acuity
nyctalopia
peripapillary atrophy
macular involvement (in some patients)
attenuated retinal vessels
more

Clinical features from OMIM:

617123

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

Drugs & Therapeutics for Retinitis Pigmentosa 76

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 76

Genetic Tests for Retinitis Pigmentosa 76

Genetic tests related to Retinitis Pigmentosa 76:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 76 29 POMGNT1

Anatomical Context for Retinitis Pigmentosa 76

MalaCards organs/tissues related to Retinitis Pigmentosa 76:

41
Bone, Retina, Brain, Eye

Publications for Retinitis Pigmentosa 76

Articles related to Retinitis Pigmentosa 76:

# Title Authors PMID Year
1
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. 8 71
27391550 2016
2
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 8 71
26908613 2016
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
4
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 71
22554691 2012
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
6
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 71
15466003 2004
7
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000

Variations for Retinitis Pigmentosa 76

ClinVar genetic disease variations for Retinitis Pigmentosa 76:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 1:46657769-46657769 1:46192097-46192097
2 POMGNT1 NM_017739.3(POMGNT1): c.860T> G (p.Ile287Ser) single nucleotide variant Pathogenic rs200863680 1:46659965-46659965 1:46194293-46194293
3 POMGNT1 NM_017739.3(POMGNT1): c.466G> A (p.Glu156Lys) single nucleotide variant Pathogenic rs886037947 1:46661551-46661551 1:46195879-46195879
4 POMGNT1 NM_017739.3(POMGNT1): c.1505G> C (p.Gly502Ala) single nucleotide variant Pathogenic rs886037948 1:46657804-46657804 1:46192132-46192132
5 POMGNT1 NM_017739.3(POMGNT1): c.359T> G (p.Leu120Arg) single nucleotide variant Pathogenic rs886037949 1:46661745-46661745 1:46196073-46196073
6 POMGNT1 NM_017739.3(POMGNT1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs193919337 1:46662690-46662690 1:46197018-46197018
7 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs267606960 1:46657840-46657840 1:46192168-46192168
8 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 1:46655129-46655129 1:46189457-46189457
9 POMGNT1 NM_017739.3(POMGNT1): c.839G> A (p.Ser280Asn) single nucleotide variant Uncertain significance rs142485035 1:46659986-46659986 1:46194314-46194314
10 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 1:46662438-46662438 1:46196766-46196766
11 POMGNT1 NM_017739.3(POMGNT1): c.1010T> C (p.Ile337Thr) single nucleotide variant Uncertain significance rs138745073 1:46659252-46659252 1:46193580-46193580
12 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 1:46662488-46662488 1:46196816-46196816
13 POMGNT1 NM_017739.3(POMGNT1): c.1456C> G (p.Arg486Gly) single nucleotide variant Uncertain significance rs534543454 1:46657853-46657853 1:46192181-46192181
14 POMGNT1 NM_017739.3(POMGNT1): c.355G> A (p.Val119Met) single nucleotide variant Uncertain significance rs148498470 1:46661749-46661749 1:46196077-46196077

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

74
# 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

Expression for Retinitis Pigmentosa 76

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

Pathways for Retinitis Pigmentosa 76

GO Terms for Retinitis Pigmentosa 76

Sources for Retinitis Pigmentosa 76

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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