CSNB1C
MCID: NGH027
MIFTS: 24

Night Blindness, Congenital Stationary, Type 1c (CSNB1C)

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

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

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

Name: Night Blindness, Congenital Stationary, Type 1c 58 74
Csnb1c 58 12 76
Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 58 13
Congenital Stationary Night Blindness, Type 1c 30 6
Congenital Stationary Night Blindness 1c Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1c 41
Night Blindness, Congenital Stationary, 1c 76
Congenital Stationary Night Blindness 1c 12
Csnb, Complete, Autosomal Recessive 58
Complete Autosomal Recessive Csnb 76

Characteristics:

HPO:

33
night blindness, congenital stationary, type 1c:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Night Blindness, Congenital Stationary, Type 1c

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive that has material basis in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14.

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1c, also known as csnb1c, is related to night blindness, congenital stationary, type 1b and night blindness, congenital stationary, type 1d. An important gene associated with Night Blindness, Congenital Stationary, Type 1c is TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1). Affiliated tissues include skin and eye, and related phenotypes are congenital stationary night blindness and nystagmus

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, 1C: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

Description from OMIM: 613216

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 congenital stationary night blindness 33 obligate (100%) HP:0007642
2 nystagmus 33 HP:0000639
3 strabismus 33 HP:0000486
4 abnormal electroretinogram 33 HP:0000512
5 dry skin 33 HP:0000958
6 myopia 33 HP:0000545
7 reduced visual acuity 33 HP:0007663
8 eczema 33 HP:0000964

Clinical features from OMIM:

613216

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

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

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

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

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1c 30 TRPM1

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

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

42
Skin, Eye

Publications for Night Blindness, Congenital Stationary, Type 1c

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

# Title Authors Year
1
TRPM1 mutations are associated with the complete form of congenital stationary night blindness. ( 20300565 )
2010
2
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. ( 19878917 )
2009
3
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. ( 19896109 )
2009
4
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. ( 19896113 )
2009
5
TRPM1 forms ion channels associated with melanin content in melanocytes. ( 19436059 )
2009

Variations for Night Blindness, Congenital Stationary, Type 1c

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

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 TRPM1 p.Tyr56Cys VAR_063174
2 TRPM1 p.Tyr72Cys VAR_063175 rs200514769
3 TRPM1 p.Arg74Cys VAR_063176 rs774365264
4 TRPM1 p.Leu99Pro VAR_063177 rs191205969
5 TRPM1 p.Leu364Arg VAR_063178 rs372608320
6 TRPM1 p.Arg473Pro VAR_063180
7 TRPM1 p.Gly534Arg VAR_063181 rs748043795
8 TRPM1 p.Met541Lys VAR_063182 rs126104017
9 TRPM1 p.Pro611His VAR_063183 rs267607139
10 TRPM1 p.Arg721Gln VAR_063184 rs781460164
11 TRPM1 p.Glu883Gly VAR_063185 rs574652148
12 TRPM1 p.Ile1002Phe VAR_063187 rs369484186

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

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPM1 TRPM1, IVS16DS, T-C, +2 single nucleotide variant Pathogenic
2 TRPM1 TRPM1, 1-BP DEL, 412G deletion Pathogenic
3 TRPM1 NM_002420.5(TRPM1): c.3105T> A (p.Tyr1035Ter) single nucleotide variant Pathogenic rs267607140 GRCh37 Chromosome 15, 31320657: 31320657
4 TRPM1 NM_002420.5(TRPM1): c.3105T> A (p.Tyr1035Ter) single nucleotide variant Pathogenic rs267607140 GRCh38 Chromosome 15, 31028454: 31028454
5 TRPM1 NM_002420.5(TRPM1): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic rs267607141 GRCh37 Chromosome 15, 31362416: 31362416
6 TRPM1 NM_002420.5(TRPM1): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic rs267607141 GRCh38 Chromosome 15, 31070213: 31070213
7 TRPM1 NM_002420.5(TRPM1): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs191205969 GRCh37 Chromosome 15, 31360213: 31360213
8 TRPM1 NM_002420.5(TRPM1): c.296T> C (p.Leu99Pro) single nucleotide variant Pathogenic rs191205969 GRCh38 Chromosome 15, 31068010: 31068010
9 TRPM1 NM_002420.5(TRPM1): c.1832C> A (p.Pro611His) single nucleotide variant Pathogenic rs267607139 GRCh37 Chromosome 15, 31334343: 31334343
10 TRPM1 NM_002420.5(TRPM1): c.1832C> A (p.Pro611His) single nucleotide variant Pathogenic rs267607139 GRCh38 Chromosome 15, 31042140: 31042140
11 TRPM1 TRPM1, 36.4-KB DEL, EX2-7 deletion Pathogenic
12 TRPM1 NM_002420.5(TRPM1): c.1870C> T (p.Arg624Cys) single nucleotide variant Likely pathogenic rs387906862 GRCh37 Chromosome 15, 31334305: 31334305
13 TRPM1 NM_002420.5(TRPM1): c.1870C> T (p.Arg624Cys) single nucleotide variant Likely pathogenic rs387906862 GRCh38 Chromosome 15, 31042102: 31042102
14 TRPM1 NM_002420.5(TRPM1): c.2645C> A (p.Ser882Ter) single nucleotide variant Pathogenic rs786205113 GRCh37 Chromosome 15, 31325133: 31325133
15 TRPM1 NM_002420.5(TRPM1): c.2645C> A (p.Ser882Ter) single nucleotide variant Pathogenic rs786205113 GRCh38 Chromosome 15, 31032930: 31032930
16 TRPM1 NM_002420.5(TRPM1): c.1023+3_1023+6delAAGT deletion Pathogenic rs772011426 GRCh37 Chromosome 15, 31354776: 31354779
17 TRPM1 NM_002420.5(TRPM1): c.1023+3_1023+6delAAGT deletion Pathogenic rs772011426 GRCh38 Chromosome 15, 31062573: 31062576
18 TRPM1 NM_002420.5(TRPM1): c.470C> T (p.Ser157Phe) single nucleotide variant Uncertain significance rs138886378 GRCh37 Chromosome 15, 31359348: 31359348
19 TRPM1 NM_002420.5(TRPM1): c.470C> T (p.Ser157Phe) single nucleotide variant Uncertain significance rs138886378 GRCh38 Chromosome 15, 31067145: 31067145
20 TRPM1 NM_002420.5(TRPM1): c.2998C> T (p.Arg1000Ter) single nucleotide variant Pathogenic rs369742878 GRCh37 Chromosome 15, 31323249: 31323249
21 TRPM1 NM_002420.5(TRPM1): c.2998C> T (p.Arg1000Ter) single nucleotide variant Pathogenic rs369742878 GRCh38 Chromosome 15, 31031046: 31031046
22 TRPM1 NM_002420.5(TRPM1): c.707T> C (p.Leu236Pro) single nucleotide variant Likely pathogenic rs869312176 GRCh38 Chromosome 15, 31066093: 31066093
23 TRPM1 NM_002420.5(TRPM1): c.707T> C (p.Leu236Pro) single nucleotide variant Likely pathogenic rs869312176 GRCh37 Chromosome 15, 31358296: 31358296
24 TRPM1 NM_002420.5(TRPM1): c.1197G> A (p.Pro399=) single nucleotide variant Uncertain significance rs768701595 GRCh37 Chromosome 15, 31352747: 31352747
25 TRPM1 NM_002420.5(TRPM1): c.1197G> A (p.Pro399=) single nucleotide variant Uncertain significance rs768701595 GRCh38 Chromosome 15, 31060544: 31060544
26 TRPM1 NM_001252020.1(TRPM1): c.3461G> T (p.Ser1154Ile) single nucleotide variant Uncertain significance rs375136665 GRCh38 Chromosome 15, 31027001: 31027001
27 TRPM1 NM_001252020.1(TRPM1): c.3461G> T (p.Ser1154Ile) single nucleotide variant Uncertain significance rs375136665 GRCh37 Chromosome 15, 31319204: 31319204
28 TRPM1 NM_001252020.1(TRPM1): c.333T> G (p.Tyr111Ter) single nucleotide variant Likely pathogenic rs372529012 GRCh38 Chromosome 15, 31068090: 31068090
29 TRPM1 NM_001252020.1(TRPM1): c.333T> G (p.Tyr111Ter) single nucleotide variant Likely pathogenic rs372529012 GRCh37 Chromosome 15, 31360293: 31360293
30 TRPM1 NM_001252030.1(TRPM1): c.360T> G (p.Tyr120Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 31069884: 31069884
31 TRPM1 NM_001252030.1(TRPM1): c.360T> G (p.Tyr120Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 31362087: 31362087

Expression for Night Blindness, Congenital Stationary, Type 1c

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

Pathways for Night Blindness, Congenital Stationary, Type 1c

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

Sources for Night Blindness, Congenital Stationary, Type 1c

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