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 56 73 29 6
Rp76 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second decade of life


HPO:

31
retinitis pigmentosa 76:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617123
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174

Summaries for Retinitis Pigmentosa 76

UniProtKB/Swiss-Prot : 73 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 eye, brain and bone, and related phenotypes are cystoid macular edema and nyctalopia

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
Retinitis Pigmentosa 86 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 9.5 TSPAN1 POMGNT1
2 muscle eye brain disease 9.4 TSPAN1 POMGNT1
3 muscular dystrophy-dystroglycanopathy 9.2 TSPAN1 POMGNT1

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 nyctalopia 31 HP:0000662
3 reduced visual acuity 31 HP:0007663
4 retinal thinning 31 HP:0030329
5 peripapillary atrophy 31 HP:0500087

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nyctalopia
reduced visual acuity
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:

40
Eye, Brain, Bone, Retina

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. 56 6
27391550 2016
2
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 56 6
26908613 2016
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 6
22554691 2012
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
6
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6
15466003 2004
7
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Retinitis Pigmentosa 76

ClinVar genetic disease variations for Retinitis Pigmentosa 76:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMGNT1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)SNV Pathogenic 56604 rs386834034 1:46660525-46660525 1:46194853-46194853
2 POMGNT1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter)SNV Pathogenic 56610 rs386834039 1:46659546-46659546 1:46193874-46193874
3 POMGNT1 NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser)SNV Pathogenic 254270 rs200863680 1:46659965-46659965 1:46194293-46194293
4 POMGNT1 NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys)SNV Pathogenic 254272 rs886037947 1:46661551-46661551 1:46195879-46195879
5 POMGNT1 NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala)SNV Pathogenic 254274 rs886037948 1:46657804-46657804 1:46192132-46192132
6 POMGNT1 NM_017739.3(POMGNT1):c.359T>G (p.Leu120Arg)SNV Pathogenic 254275 rs886037949 1:46661745-46661745 1:46196073-46196073
7 POMGNT1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)SNV Pathogenic 265399 rs190057175 1:46660532-46660532 1:46194860-46194860
8 POMGNT1 NM_017739.3(POMGNT1):c.187C>T (p.Arg63Ter)SNV Pathogenic 3994 rs193919337 1:46662690-46662690 1:46197018-46197018
9 POMGNT1 NM_017739.3(POMGNT1):c.1539+1G>ASNV Pathogenic 56582 rs138642840 1:46657769-46657769 1:46192097-46192097
10 POMGNT1 NM_017739.3(POMGNT1):c.1895+1G>ASNV Pathogenic/Likely pathogenic 56592 rs386834024 1:46655129-46655129 1:46189457-46189457
11 POMGNT1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)SNV Pathogenic/Likely pathogenic 4000 rs267606960 1:46657840-46657840 1:46192168-46192168
12 POMGNT1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)SNV Pathogenic/Likely pathogenic 3992 rs28940869 1:46658069-46658069 1:46192397-46192397
13 POMGNT1 NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln)SNV Likely pathogenic 422459 rs766382416 1:46657846-46657846 1:46192174-46192174
14 POMGNT1 NM_017739.3(POMGNT1):c.1895+1G>TSNV Conflicting interpretations of pathogenicity 56593 rs386834024 1:46655129-46655129 1:46189457-46189457
15 POMGNT1 NM_017739.3(POMGNT1):c.1285-2A>GSNV Conflicting interpretations of pathogenicity 56578 rs386834012 1:46658110-46658110 1:46192438-46192438
16 POMGNT1 NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn)SNV Conflicting interpretations of pathogenicity 162588 rs142485035 1:46659986-46659986 1:46194314-46194314
17 POMGNT1 NM_017739.3(POMGNT1):c.319C>A (p.Arg107Ser)SNV Uncertain significance 162590 rs375420073 1:46662438-46662438 1:46196766-46196766
18 POMGNT1 NM_017739.3(POMGNT1):c.355G>A (p.Val119Met)SNV Uncertain significance 423754 rs148498470 1:46661749-46661749 1:46196077-46196077
19 POMGNT1 NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr)SNV Uncertain significance 285192 rs138745073 1:46659252-46659252 1:46193580-46193580
20 POMGNT1 NM_017739.3(POMGNT1):c.269G>A (p.Arg90His)SNV Uncertain significance 290280 rs139701867 1:46662488-46662488 1:46196816-46196816
21 POMGNT1 NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly)SNV Uncertain significance 291060 rs534543454 1:46657853-46657853 1:46192181-46192181

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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