CSNB1F
MCID: NGH030
MIFTS: 26

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 70
Night Blindness, Congenital Stationary , 1f, Autosomal Recessive 57 29 13
Csnb1f 57 12 72
Congenital Stationary Night Blindness, Type 1f 29 6
Complete Congenital Stationary Night Blindness 1f Autosomal Recessive 72
Congenital Stationary Night Blindness 1f Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1f 39
Night Blindness, Congenital Stationary, 1f 72
Congenital Stationary Night Blindness 1f 12
Complete Autosomal Recessive Csnb 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
night blindness, congenital stationary, type 1f:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110864
OMIM® 57 615058
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
UMLS 70 C3554399

Summaries for Night Blindness, Congenital Stationary, Type 1f

UniProtKB/Swiss-Prot : 72 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 night blindness, congenital stationary , 1f, autosomal recessive, 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.

More information from OMIM: 615058 PS310500

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

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

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 occasional (7.5%) HP:0000486
2 myopia 31 HP:0000545
3 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
2 Night Blindness, Congenital Stationary (complete), 1f, Autosomal Recessive 29

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

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

40
Eye

Publications for Night Blindness, Congenital Stationary, Type 1f

Articles related to Night Blindness, Congenital Stationary, Type 1f:

# Title Authors PMID Year
1
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. 57 6
23246293 2013

Variations for Night Blindness, Congenital Stationary, Type 1f

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

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRIT3 NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter) SNV Pathogenic 39440 rs397509379 GRCh37: 4:110791056-110791056
GRCh38: 4:109869900-109869900
2 LRIT3 NM_198506.5(LRIT3):c.1536_1537CT[1] (p.Ser513fs) Microsatellite Pathogenic 39441 rs397509380 GRCh37: 4:110791441-110791442
GRCh38: 4:109870285-109870286
3 LRIT3 NM_198506.5(LRIT3):c.463del (p.Ala156fs) Deletion Pathogenic 1027926 GRCh37: 4:110773005-110773005
GRCh38: 4:109851849-109851849
4 LRIT3 NM_198506.5(LRIT3):c.1933C>T (p.Arg645Ter) SNV Pathogenic 943491 GRCh37: 4:110791838-110791838
GRCh38: 4:109870682-109870682
5 LRIT3 NM_198506.5(LRIT3):c.3G>A (p.Met1Ile) SNV Pathogenic 1033262 GRCh37: 4:110769360-110769360
GRCh38: 4:109848204-109848204
6 LRIT3 NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter) SNV Pathogenic 39439 rs397509378 GRCh37: 4:110791223-110791223
GRCh38: 4:109870067-109870067
7 LRIT3 NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) SNV Pathogenic 39438 rs376610215 GRCh37: 4:110790888-110790888
GRCh38: 4:109869732-109869732
8 LRIT3 NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg) SNV Uncertain significance 347188 rs151283521 GRCh37: 4:110791062-110791062
GRCh38: 4:109869906-109869906
9 LRIT3 NM_198506.5(LRIT3):c.277G>A (p.Val93Met) SNV Uncertain significance 522325 rs1479270315 GRCh37: 4:110772820-110772820
GRCh38: 4:109851664-109851664
10 LRIT3 NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile) SNV Uncertain significance 347187 rs199662798 GRCh37: 4:110790951-110790951
GRCh38: 4:109869795-109869795
11 LRIT3 NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg) SNV Uncertain significance 899795 GRCh37: 4:110790824-110790824
GRCh38: 4:109869668-109869668
12 LRIT3 NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly) SNV Uncertain significance 860341 GRCh37: 4:110791064-110791064
GRCh38: 4:109869908-109869908
13 LRIT3 NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr) SNV Uncertain significance 347190 rs371356043 GRCh37: 4:110791212-110791212
GRCh38: 4:109870056-109870056
14 LRIT3 NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr) SNV Uncertain significance 901025 GRCh37: 4:110791818-110791818
GRCh38: 4:109870662-109870662
15 LRIT3 NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro) SNV Uncertain significance 860342 GRCh37: 4:110791178-110791178
GRCh38: 4:109870022-109870022
16 LRIT3 NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs) Insertion Uncertain significance 631935 rs1560588083 GRCh37: 4:110769372-110769373
GRCh38: 4:109848216-109848217
17 LRIT3 NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) SNV Uncertain significance 195436 rs148810231 GRCh37: 4:110772922-110772922
GRCh38: 4:109851766-109851766
18 LRIT3 NM_198506.5(LRIT3):c.660C>T (p.Asp220=) SNV Uncertain significance 347183 rs761469951 GRCh37: 4:110788867-110788867
GRCh38: 4:109867711-109867711
19 LRIT3 NM_198506.5(LRIT3):c.*1108A>G SNV Uncertain significance 347209 rs749828551 GRCh37: 4:110793053-110793053
GRCh38: 4:109871897-109871897
20 LRIT3 NM_198506.5(LRIT3):c.1029G>T (p.Val343=) SNV Uncertain significance 347186 rs199943498 GRCh37: 4:110790934-110790934
GRCh38: 4:109869778-109869778
21 LRIT3 NM_198506.5(LRIT3):c.*1322T>C SNV Uncertain significance 347215 rs146584985 GRCh37: 4:110793267-110793267
GRCh38: 4:109872111-109872111
22 LRIT3 NM_198506.5(LRIT3):c.30C>A (p.Val10=) SNV Uncertain significance 347180 rs373793629 GRCh37: 4:110769387-110769387
GRCh38: 4:109848231-109848231
23 LRIT3 NM_198506.5(LRIT3):c.*1191T>C SNV Uncertain significance 347212 rs574005997 GRCh37: 4:110793136-110793136
GRCh38: 4:109871980-109871980
24 LRIT3 NM_198506.5(LRIT3):c.966C>T (p.Asp322=) SNV Uncertain significance 347185 rs141753583 GRCh37: 4:110790871-110790871
GRCh38: 4:109869715-109869715
25 LRIT3 NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys) SNV Uncertain significance 347191 rs886058986 GRCh37: 4:110791219-110791219
GRCh38: 4:109870063-109870063
26 LRIT3 NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe) SNV Uncertain significance 347189 rs770968977 GRCh37: 4:110791143-110791143
GRCh38: 4:109869987-109869987
27 LRIT3 NM_198506.5(LRIT3):c.*1157T>C SNV Uncertain significance 347211 rs572997541 GRCh37: 4:110793102-110793102
GRCh38: 4:109871946-109871946
28 LRIT3 NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu) SNV Uncertain significance 347184 rs886058985 GRCh37: 4:110789055-110789055
GRCh38: 4:109867899-109867899
29 LRIT3 NM_198506.5(LRIT3):c.*1516C>A SNV Uncertain significance 347217 rs886058987 GRCh37: 4:110793461-110793461
GRCh38: 4:109872305-109872305
30 LRIT3 NM_198506.5(LRIT3):c.667A>G (p.Ile223Val) SNV Uncertain significance 899793 GRCh37: 4:110788874-110788874
GRCh38: 4:109867718-109867718
31 LRIT3 NM_198506.5(LRIT3):c.900A>G (p.Ile300Met) SNV Uncertain significance 899794 GRCh37: 4:110790805-110790805
GRCh38: 4:109869649-109869649
32 LRIT3 NM_198506.5(LRIT3):c.1677G>A (p.Val559=) SNV Uncertain significance 899849 GRCh37: 4:110791582-110791582
GRCh38: 4:109870426-109870426
33 LRIT3 NM_198506.5(LRIT3):c.*1155G>A SNV Uncertain significance 899911 GRCh37: 4:110793100-110793100
GRCh38: 4:109871944-109871944
34 LRIT3 NM_198506.5(LRIT3):c.*1182T>C SNV Uncertain significance 899912 GRCh37: 4:110793127-110793127
GRCh38: 4:109871971-109871971
35 LRIT3 NM_198506.5(LRIT3):c.99T>C (p.Asn33=) SNV Uncertain significance 900732 GRCh37: 4:110769456-110769456
GRCh38: 4:109848300-109848300
36 LRIT3 NM_198506.5(LRIT3):c.1018G>A (p.Val340Met) SNV Uncertain significance 900958 GRCh37: 4:110790923-110790923
GRCh38: 4:109869767-109869767
37 LRIT3 NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu) SNV Uncertain significance 900959 GRCh37: 4:110791014-110791014
GRCh38: 4:109869858-109869858
38 LRIT3 NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val) SNV Uncertain significance 901026 GRCh37: 4:110791871-110791871
GRCh38: 4:109870715-109870715
39 LRIT3 NM_198506.5(LRIT3):c.*82C>T SNV Uncertain significance 901027 GRCh37: 4:110792027-110792027
GRCh38: 4:109870871-109870871
40 LRIT3 NM_198506.5(LRIT3):c.*258G>A SNV Uncertain significance 901028 GRCh37: 4:110792203-110792203
GRCh38: 4:109871047-109871047
41 LRIT3 NM_198506.5(LRIT3):c.*626G>A SNV Uncertain significance 901580 GRCh37: 4:110792571-110792571
GRCh38: 4:109871415-109871415
42 LRIT3 NM_198506.5(LRIT3):c.327G>A (p.Glu109=) SNV Uncertain significance 902556 GRCh37: 4:110772870-110772870
GRCh38: 4:109851714-109851714
43 LRIT3 NM_198506.5(LRIT3):c.332G>A (p.Arg111His) SNV Uncertain significance 902557 GRCh37: 4:110772875-110772875
GRCh38: 4:109851719-109851719
44 LRIT3 NM_198506.5(LRIT3):c.492A>G (p.Arg164=) SNV Uncertain significance 903409 GRCh37: 4:110773035-110773035
GRCh38: 4:109851879-109851879
45 LRIT3 NM_198506.5(LRIT3):c.*959C>T SNV Uncertain significance 903515 GRCh37: 4:110792904-110792904
GRCh38: 4:109871748-109871748
46 LRIT3 NM_198506.5(LRIT3):c.*1038C>T SNV Uncertain significance 903516 GRCh37: 4:110792983-110792983
GRCh38: 4:109871827-109871827
47 LRIT3 NM_198506.5(LRIT3):c.*1070C>T SNV Uncertain significance 903517 GRCh37: 4:110793015-110793015
GRCh38: 4:109871859-109871859
48 LRIT3 NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) SNV Uncertain significance 684455 rs538101562 GRCh37: 4:110788940-110788940
GRCh38: 4:109867784-109867784
49 LRIT3 NM_198506.5(LRIT3):c.222G>A (p.Ala74=) SNV Uncertain significance 737160 rs148450929 GRCh37: 4:110772765-110772765
GRCh38: 4:109851609-109851609
50 LRIT3 NM_198506.5(LRIT3):c.1644G>A (p.Gly548=) SNV Uncertain significance 745626 rs528069315 GRCh37: 4:110791549-110791549
GRCh38: 4:109870393-109870393

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

72
# Symbol AA change Variation ID SNP ID
1 LRIT3 p.Cys328Tyr VAR_069746 rs376610215
2 LRIT3 p.Trp203Leu VAR_081904

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 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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