CSNB1F
MCID: NGH030
MIFTS: 25

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 56 71
Night Blindness, Congenital Stationary , 1f, Autosomal Recessive 56 29 13
Csnb1f 56 12 73
Congenital Stationary Night Blindness, Type 1f 29 6
Complete Congenital Stationary Night Blindness 1f Autosomal Recessive 73
Congenital Stationary Night Blindness 1f Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1f 39
Night Blindness, Congenital Stationary, 1f 73
Congenital Stationary Night Blindness 1f 12
Complete Autosomal Recessive Csnb 73

Characteristics:

OMIM:

56
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 56 615058
OMIM Phenotypic Series 56 PS310500
MeSH 43 D009755
UMLS 71 C3554399

Summaries for Night Blindness, Congenital Stationary, Type 1f

UniProtKB/Swiss-Prot : 73 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). 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:

56
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

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

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. 56 6
23246293 2013

Variations for Night Blindness, Congenital Stationary, Type 1f

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRIT3 NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr)SNV Pathogenic 39438 rs376610215 4:110790888-110790888 4:109869732-109869732
2 LRIT3 NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter)SNV Pathogenic 39439 rs397509378 4:110791223-110791223 4:109870067-109870067
3 LRIT3 NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)SNV Pathogenic 39440 rs397509379 4:110791056-110791056 4:109869900-109869900
4 LRIT3 NM_198506.5(LRIT3):c.1536_1537CT[1] (p.Ser513fs)short repeat Pathogenic 39441 rs397509380 4:110791441-110791442 4:109870285-109870286
5 LRIT3 NM_198506.5(LRIT3):c.222G>A (p.Ala74=)SNV Conflicting interpretations of pathogenicity 737160 4:110772765-110772765 4:109851609-109851609
6 LRIT3 NM_198506.5(LRIT3):c.1644G>A (p.Gly548=)SNV Conflicting interpretations of pathogenicity 745626 4:110791549-110791549 4:109870393-109870393
7 LRIT3 NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly)SNV Uncertain significance 860341 4:110791064-110791064 4:109869908-109869908
8 LRIT3 NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro)SNV Uncertain significance 860342 4:110791178-110791178 4:109870022-109870022
9 LRIT3 NM_198506.5(LRIT3):c.99T>C (p.Asn33=)SNV Uncertain significance 900732 4:110769456-110769456 4:109848300-109848300
10 LRIT3 NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)SNV Uncertain significance 195436 rs148810231 4:110772922-110772922 4:109851766-109851766
11 LRIT3 NM_198506.5(LRIT3):c.*1108A>GSNV Uncertain significance 347209 rs749828551 4:110793053-110793053 4:109871897-109871897
12 LRIT3 NM_198506.5(LRIT3):c.*1516C>ASNV Uncertain significance 347217 rs886058987 4:110793461-110793461 4:109872305-109872305
13 LRIT3 NM_198506.5(LRIT3):c.660C>T (p.Asp220=)SNV Uncertain significance 347183 rs761469951 4:110788867-110788867 4:109867711-109867711
14 LRIT3 NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu)SNV Uncertain significance 347184 rs886058985 4:110789055-110789055 4:109867899-109867899
15 LRIT3 NM_198506.5(LRIT3):c.966C>T (p.Asp322=)SNV Uncertain significance 347185 rs141753583 4:110790871-110790871 4:109869715-109869715
16 LRIT3 NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile)SNV Uncertain significance 347187 rs199662798 4:110790951-110790951 4:109869795-109869795
17 LRIT3 NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg)SNV Uncertain significance 347188 rs151283521 4:110791062-110791062 4:109869906-109869906
18 LRIT3 NM_198506.5(LRIT3):c.327G>A (p.Glu109=)SNV Uncertain significance 902556 4:110772870-110772870 4:109851714-109851714
19 LRIT3 NM_198506.5(LRIT3):c.332G>A (p.Arg111His)SNV Uncertain significance 902557 4:110772875-110772875 4:109851719-109851719
20 LRIT3 NM_198506.5(LRIT3):c.492A>G (p.Arg164=)SNV Uncertain significance 903409 4:110773035-110773035 4:109851879-109851879
21 LRIT3 NM_198506.5(LRIT3):c.667A>G (p.Ile223Val)SNV Uncertain significance 899793 4:110788874-110788874 4:109867718-109867718
22 LRIT3 NM_198506.5(LRIT3):c.900A>G (p.Ile300Met)SNV Uncertain significance 899794 4:110790805-110790805 4:109869649-109869649
23 LRIT3 NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg)SNV Uncertain significance 899795 4:110790824-110790824 4:109869668-109869668
24 LRIT3 NM_198506.5(LRIT3):c.1018G>A (p.Val340Met)SNV Uncertain significance 900958 4:110790923-110790923 4:109869767-109869767
25 LRIT3 NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu)SNV Uncertain significance 900959 4:110791014-110791014 4:109869858-109869858
26 LRIT3 NM_198506.5(LRIT3):c.1677G>A (p.Val559=)SNV Uncertain significance 899849 4:110791582-110791582 4:109870426-109870426
27 LRIT3 NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr)SNV Uncertain significance 901025 4:110791818-110791818 4:109870662-109870662
28 LRIT3 NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val)SNV Uncertain significance 901026 4:110791871-110791871 4:109870715-109870715
29 LRIT3 NM_198506.5(LRIT3):c.*82C>TSNV Uncertain significance 901027 4:110792027-110792027 4:109870871-109870871
30 LRIT3 NM_198506.5(LRIT3):c.*258G>ASNV Uncertain significance 901028 4:110792203-110792203 4:109871047-109871047
31 LRIT3 NM_198506.5(LRIT3):c.*626G>ASNV Uncertain significance 901580 4:110792571-110792571 4:109871415-109871415
32 LRIT3 NM_198506.5(LRIT3):c.*959C>TSNV Uncertain significance 903515 4:110792904-110792904 4:109871748-109871748
33 LRIT3 NM_198506.5(LRIT3):c.*1038C>TSNV Uncertain significance 903516 4:110792983-110792983 4:109871827-109871827
34 LRIT3 NM_198506.5(LRIT3):c.*1070C>TSNV Uncertain significance 903517 4:110793015-110793015 4:109871859-109871859
35 LRIT3 NM_198506.5(LRIT3):c.*1155G>ASNV Uncertain significance 899911 4:110793100-110793100 4:109871944-109871944
36 LRIT3 NM_198506.5(LRIT3):c.*1182T>CSNV Uncertain significance 899912 4:110793127-110793127 4:109871971-109871971
37 LRIT3 NM_198506.5(LRIT3):c.277G>A (p.Val93Met)SNV Uncertain significance 522325 rs1479270315 4:110772820-110772820 4:109851664-109851664
38 LRIT3 NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs)insertion Uncertain significance 631935 rs1560588083 4:110769372-110769373 4:109848216-109848217
39 LRIT3 NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)SNV Uncertain significance 684455 4:110788940-110788940 4:109867784-109867784
40 LRIT3 NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe)SNV Uncertain significance 347189 rs770968977 4:110791143-110791143 4:109869987-109869987
41 LRIT3 NM_198506.5(LRIT3):c.*1157T>CSNV Uncertain significance 347211 rs572997541 4:110793102-110793102 4:109871946-109871946
42 LRIT3 NM_198506.5(LRIT3):c.*1191T>CSNV Uncertain significance 347212 rs574005997 4:110793136-110793136 4:109871980-109871980
43 LRIT3 NM_198506.5(LRIT3):c.*1322T>CSNV Uncertain significance 347215 rs146584985 4:110793267-110793267 4:109872111-109872111
44 LRIT3 NM_198506.5(LRIT3):c.30C>A (p.Val10=)SNV Uncertain significance 347180 rs373793629 4:110769387-110769387 4:109848231-109848231
45 LRIT3 NM_198506.5(LRIT3):c.1029G>T (p.Val343=)SNV Uncertain significance 347186 rs199943498 4:110790934-110790934 4:109869778-109869778
46 LRIT3 NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr)SNV Uncertain significance 347190 rs371356043 4:110791212-110791212 4:109870056-109870056
47 LRIT3 NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys)SNV Uncertain significance 347191 rs886058986 4:110791219-110791219 4:109870063-109870063
48 LRIT3 NM_198506.5(LRIT3):c.*1194T>ASNV Likely benign 347213 rs56285361 4:110793139-110793139 4:109871983-109871983
49 LRIT3 NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala)SNV Likely benign 347193 rs75722024 4:110791350-110791350 4:109870194-109870194
50 LRIT3 NM_198506.5(LRIT3):c.*683G>ASNV Likely benign 347205 rs564004924 4:110792628-110792628 4:109871472-109871472

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

73
# 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

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