RP76
MCID: RTN190
MIFTS: 30

Retinitis Pigmentosa 76 (RP76)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

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:



External Ids:

OMIM® 57 617123
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174

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

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:



Diseases related to Retinitis Pigmentosa 76

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

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, Bone, Retina, Brain

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
27391550 2016
2
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 6 57
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
28688748 2017
4
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 6
23326386 2013
5
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 6
22554691 2012
6
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
7
Novel retinal findings in an infant with muscle-eye-brain disease. 6
25390965 2012
8
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 6
21361872 2011
9
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
10
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 6
18330676 2008
11
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 6
17906881 2007
12
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
13
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 6
17030669 2006
14
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6
15466003 2004
15
POMGnT1 gene alterations in a family with neurological abnormalities. 6
15236414 2004
16
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 6
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
32385361 2020

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

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....