MCID: RTN190
MIFTS: 24

Retinitis Pigmentosa 76

Categories: Genetic diseases, Rare diseases, Eye diseases

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:



External Ids:

OMIM 57 617123
MeSH 44 D012174

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

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

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

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
Retina, Bone

Publications for Retinitis Pigmentosa 76

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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