CSNB1F
MCID: NGH030
MIFTS: 23

Night Blindness, Congenital Stationary, Type 1f (CSNB1F)

Categories: Eye diseases, Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1f

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1f:

Name: Night Blindness, Congenital Stationary, Type 1f 57 73
Csnb1f 57 12 75
Night Blindness, Congenital Stationary , 1f, Autosomal Recessive 57 13
Congenital Stationary Night Blindness, Type 1f 29 6
Complete Congenital Stationary Night Blindness 1f Autosomal Recessive 75
Congenital Stationary Night Blindness 1f Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1f 40
Night Blindness, Congenital Stationary, 1f 75
Congenital Stationary Night Blindness 1f 12
Complete Autosomal Recessive Csnb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on 2 reported patients (last curated january 2013)


HPO:

32
night blindness, congenital stationary, type 1f:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615058
Disease Ontology 12 DOID:0110864
MeSH 44 D009755
UMLS 73 C3554399

Summaries for Night Blindness, Congenital Stationary, Type 1f

UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, 1F: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1f, also known as csnb1f, is related to night blindness, congenital stationary, type 1b and night blindness, congenital stationary, type 1c. An important gene associated with Night Blindness, Congenital Stationary, Type 1f is LRIT3 (Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3). Affiliated tissues include eye, and related phenotypes are strabismus and myopia

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25.

Description from OMIM: 615058

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1f

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
myopia
strabismus (in some patients)
night blindness, congenital stationary, complete
preserved negative component (a-wave) on electroretinography
reduced positive component (b-wave) on electroretinography
more

Clinical features from OMIM:

615058

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1f:

32
# Description HPO Frequency HPO Source Accession
1 strabismus 32 occasional (7.5%) HP:0000486
2 myopia 32 HP:0000545
3 congenital stationary night blindness 32 HP:0007642

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1f

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1f

Genetic Tests for Night Blindness, Congenital Stationary, Type 1f

Genetic tests related to Night Blindness, Congenital Stationary, Type 1f:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1f 29 LRIT3

Anatomical Context for Night Blindness, Congenital Stationary, Type 1f

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1f:

41
Eye

Publications for Night Blindness, Congenital Stationary, Type 1f

Variations for Night Blindness, Congenital Stationary, Type 1f

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type 1f:

75
# Symbol AA change Variation ID SNP ID
1 LRIT3 p.Cys328Tyr VAR_069746 rs376610215

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1f:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRIT3 NM_198506.4(LRIT3): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs376610215 GRCh37 Chromosome 4, 110790888: 110790888
2 LRIT3 NM_198506.4(LRIT3): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs376610215 GRCh38 Chromosome 4, 109869732: 109869732
3 LRIT3 NM_198506.4(LRIT3): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs397509378 GRCh37 Chromosome 4, 110791223: 110791223
4 LRIT3 NM_198506.4(LRIT3): c.1318C> T (p.Arg440Ter) single nucleotide variant Pathogenic rs397509378 GRCh38 Chromosome 4, 109870067: 109870067
5 LRIT3 NM_198506.4(LRIT3): c.1151C> G (p.Ser384Ter) single nucleotide variant Pathogenic rs397509379 GRCh37 Chromosome 4, 110791056: 110791056
6 LRIT3 NM_198506.4(LRIT3): c.1151C> G (p.Ser384Ter) single nucleotide variant Pathogenic rs397509379 GRCh38 Chromosome 4, 109869900: 109869900
7 LRIT3 NM_198506.4(LRIT3): c.1538_1539delCT (p.Ser513Cysfs) deletion Pathogenic rs397509380 GRCh37 Chromosome 4, 110791443: 110791444
8 LRIT3 NM_198506.4(LRIT3): c.1538_1539delCT (p.Ser513Cysfs) deletion Pathogenic rs397509380 GRCh38 Chromosome 4, 109870287: 109870288
9 LRIT3 NM_198506.4(LRIT3): c.277G> A (p.Val93Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 110772820: 110772820
10 LRIT3 NM_198506.4(LRIT3): c.277G> A (p.Val93Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 109851664: 109851664

Expression for Night Blindness, Congenital Stationary, Type 1f

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1f.

Pathways for Night Blindness, Congenital Stationary, Type 1f

GO Terms for Night Blindness, Congenital Stationary, Type 1f

Sources for Night Blindness, Congenital Stationary, Type 1f

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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