CSNB1C
MCID: NGH027
MIFTS: 36

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 57 70
Night Blindness, Congenital Stationary , 1c, Autosomal Recessive 57 29 13
Csnb1c 57 12 72
Congenital Stationary Night Blindness, Type 1c 29 6
Congenital Stationary Night Blindness 1c 12 15
Congenital Stationary Night Blindness 1c Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1c 39
Night Blindness, Congenital Stationary, 1c 72
Csnb, Complete, Autosomal Recessive 57
Complete Autosomal Recessive Csnb 72

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110867
OMIM® 57 613216
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
MedGen 41 C2750747
UMLS 70 C2750747

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 night blindness, congenital stationary , 1c, autosomal recessive, is related to night blindness, congenital stationary, type 1e and night blindness, congenital stationary, type 1b. 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 eye, and related phenotypes are nystagmus and myopia

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, 1C: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

More information from OMIM: 613216 PS310500

Related Diseases for Night Blindness, Congenital Stationary, Type 1c

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Night Blindness, Congenital Stationary, Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1e 31.2 NYX GPR179 CACNA1F
2 night blindness, congenital stationary, type 1b 30.3 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4
3 night blindness, congenital stationary, type 1d 11.3
4 night blindness, congenital stationary, type 1f 11.3
5 x-linked congenital stationary night blindness 9.9 NYX CACNA1F
6 cone-rod dystrophy 3 9.8 CACNA1F CABP4
7 achromatopsia 3 9.8 NYX CACNA1F
8 autosomal recessive congenital stationary night blindness 9.8 TRPM1 GRM6 CABP4
9 night blindness, congenital stationary, type 2a 9.8 NYX CACNA1F
10 ocular albinism 9.8 CACNA1F CABP4
11 cone-rod dystrophy 6 9.7 CACNA1F CABP4
12 cone-rod dystrophy, x-linked, 3 9.7 NYX CACNA1F CABP4
13 aland island eye disease 9.6 NYX CACNA1F CABP4
14 eye disease 9.6 NYX CACNA1F CABP4
15 oguchi disease 9.6 NYX GRM6 CACNA1F
16 fundus albipunctatus 9.6 CACNA1F CABP4
17 achromatopsia 9.6 NYX CACNA1F CABP4
18 retinal disease 9.4 NYX GRM6 CACNA1F CABP4
19 myopia 9.4 TRPM1 NYX GRM6 CACNA1F
20 leber plus disease 9.3 NYX GRM6 CACNA1F CABP4
21 pathologic nystagmus 9.2 NYX GPR179 CACNA1F CABP4
22 retinoschisis 1, x-linked, juvenile 9.2 TRPM1 NYX GRM6 CACNA1F CABP4
23 abnormal threshold of rods 9.0 TRPM1 GRM6 GPR179 CACNA1F CABP4
24 night blindness, congenital stationary, type 1a 9.0 NYX GRM6 GPR179 CACNA1F CABP4
25 night blindness 8.7 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4
26 congenital stationary night blindness 8.7 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4
27 fundus dystrophy 8.7 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4
28 retinitis pigmentosa 8.7 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 1c:



Diseases related to Night Blindness, Congenital Stationary, Type 1c

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 myopia 31 very rare (1%) HP:0000545
3 reduced visual acuity 31 very rare (1%) HP:0007663
4 congenital stationary night blindness 31 very rare (1%) HP:0007642
5 strabismus 31 HP:0000486
6 abnormal electroretinogram 31 HP:0000512
7 dry skin 31 HP:0000958

Clinical features from OMIM®:

613216 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Type 1c according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.44 CACNA1F
2 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.44 CABP4 CACNA1F
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.44 CABP4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.44 CABP4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.44 CABP4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.44 CACNA1F
7 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.44 CABP4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.44 CACNA1F
9 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.44 CACNA1F
10 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.44 CACNA1F
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.44 CACNA1F
12 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.44 CABP4

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 1c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CABP4 CACNA1F GPR179 GRM6 NYX TRPM1

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 29 TRPM1
2 Night Blindness, Congenital Stationary (complete), 1c, Autosomal Recessive 29

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

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

40
Eye

Publications for Night Blindness, Congenital Stationary, Type 1c

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

# Title Authors PMID Year
1
TRPM1 mutations are associated with the complete form of congenital stationary night blindness. 57 6
20300565 2010
2
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. 6 57
19878917 2009
3
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. 6 57
19896109 2009
4
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 6 57
19896113 2009
5
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 6
26872967 2016
6
TRPM1 forms ion channels associated with melanin content in melanocytes. 6
19436059 2009
7
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). 57
18660533 2008
8
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 57
16249515 2005
9
Congenital stationary night blindness: an animal model. 57
308060 1978

Variations for Night Blindness, Congenital Stationary, Type 1c

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

6 (show top 50) (show all 168)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPM1 TRPM1, IVS16DS, T-C, +2 SNV Pathogenic 6223 GRCh37:
GRCh38:
2 TRPM1 TRPM1, 1-BP DEL, 412G Deletion Pathogenic 6224 GRCh37:
GRCh38:
3 TRPM1 NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter) SNV Pathogenic 6225 rs267607140 GRCh37: 15:31320657-31320657
GRCh38: 15:31028454-31028454
4 TRPM1 NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter) SNV Pathogenic 6226 rs267607141 GRCh37: 15:31362416-31362416
GRCh38: 15:31070213-31070213
5 TRPM1 NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His) SNV Pathogenic 6228 rs267607139 GRCh37: 15:31334343-31334343
GRCh38: 15:31042140-31042140
6 TRPM1 TRPM1, 36.4-KB DEL, EX2-7 Deletion Pathogenic 6229 GRCh37:
GRCh38:
7 TRPM1 NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter) SNV Pathogenic 30363 rs786205113 GRCh37: 15:31325133-31325133
GRCh38: 15:31032930-31032930
8 TRPM1 NM_001252024.2(TRPM1):c.1089+3_1089+6del Deletion Pathogenic 30364 rs772011426 GRCh37: 15:31354776-31354779
GRCh38: 15:31062573-31062576
9 TRPM1 NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His) SNV Pathogenic 812113 rs775810789 GRCh37: 15:31323296-31323296
GRCh38: 15:31031093-31031093
10 overlap with 2 genes NC_000015.10:g.(?_31001061)_(31161273_?)del Deletion Pathogenic 812125 GRCh37: 15:31293264-31453476
GRCh38:
11 TRPM1 NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs) Duplication Pathogenic 931853 GRCh37: 15:31294106-31294107
GRCh38: 15:31001903-31001904
12 TRPM1 NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) SNV Pathogenic 6227 rs191205969 GRCh37: 15:31360213-31360213
GRCh38: 15:31068010-31068010
13 TRPM1 NM_001252024.2(TRPM1):c.4445C>G (p.Ser1482Ter) SNV Pathogenic 998201 GRCh37: 15:31294458-31294458
GRCh38: 15:31002255-31002255
14 TRPM1 NM_001252024.2(TRPM1):c.3160G>T (p.Glu1054Ter) SNV Pathogenic 1029595 GRCh37: 15:31320668-31320668
GRCh38: 15:31028465-31028465
15 TRPM1 NM_001252024.2(TRPM1):c.1228C>T (p.Arg410Ter) SNV Pathogenic 959414 GRCh37: 15:31352782-31352782
GRCh38: 15:31060579-31060579
16 TRPM1 NM_001252024.2(TRPM1):c.2316+1G>A SNV Pathogenic 1033506 GRCh37: 15:31332320-31332320
GRCh38: 15:31040117-31040117
17 TRPM1 NM_001252024.2(TRPM1):c.336del (p.Asp113fs) Deletion Pathogenic 1033507 GRCh37: 15:31360239-31360239
GRCh38: 15:31068036-31068036
18 TRPM1 NM_001252024.2(TRPM1):c.69G>A (p.Met23Ile) SNV Pathogenic 191053 rs770561064 GRCh37: 15:31369122-31369122
GRCh38: 15:31076919-31076919
19 TRPM1 NM_001252024.2(TRPM1):c.1623+1G>A SNV Likely pathogenic 977607 GRCh37: 15:31340091-31340091
GRCh38: 15:31047888-31047888
20 TRPM1 NM_001252024.2(TRPM1):c.279+147T>G SNV Likely pathogenic 623237 rs150441866 GRCh37: 15:31362087-31362087
GRCh38: 15:31069884-31069884
21 TRPM1 NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys) SNV Likely pathogenic 829932 rs1596017653 GRCh37: 15:31341690-31341690
GRCh38: 15:31049487-31049487
22 TRPM1 NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter) SNV Likely pathogenic 438666 rs372529012 GRCh37: 15:31360293-31360293
GRCh38: 15:31068090-31068090
23 TRPM1 NM_001252024.2(TRPM1):c.773T>C (p.Leu258Pro) SNV Likely pathogenic 224740 rs869312176 GRCh37: 15:31358296-31358296
GRCh38: 15:31066093-31066093
24 TRPM1 NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) SNV Likely pathogenic 30362 rs387906862 GRCh37: 15:31334305-31334305
GRCh38: 15:31042102-31042102
25 TRPM1 NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) SNV Likely pathogenic 593857 rs1485132228 GRCh37: 15:31327754-31327754
GRCh38: 15:31035551-31035551
26 TRPM1 NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) SNV Conflicting interpretations of pathogenicity 94063 rs138886378 GRCh37: 15:31359348-31359348
GRCh38: 15:31067145-31067145
27 TRPM1 NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp) SNV Uncertain significance 866089 GRCh37: 15:31320641-31320641
GRCh38: 15:31028438-31028438
28 TRPM1 NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr) SNV Uncertain significance 315495 rs886051029 GRCh37: 15:31294617-31294617
GRCh38: 15:31002414-31002414
29 TRPM1 NM_001252024.2(TRPM1):c.2088-8C>T SNV Uncertain significance 315517 rs762208610 GRCh37: 15:31332557-31332557
GRCh38: 15:31040354-31040354
30 TRPM1 NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val) SNV Uncertain significance 315530 rs886051032 GRCh37: 15:31354901-31354901
GRCh38: 15:31062698-31062698
31 TRPM1 NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser) SNV Uncertain significance 315537 rs754980973 GRCh37: 15:31362322-31362322
GRCh38: 15:31070119-31070119
32 TRPM1 NM_001252024.2(TRPM1):c.1867G>A (p.Asp623Asn) SNV Uncertain significance 315520 rs769362413 GRCh37: 15:31334374-31334374
GRCh38: 15:31042171-31042171
33 TRPM1 NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=) SNV Uncertain significance 315523 rs368601558 GRCh37: 15:31340113-31340113
GRCh38: 15:31047910-31047910
34 TRPM1 NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=) SNV Uncertain significance 315503 rs773508261 GRCh37: 15:31320576-31320576
GRCh38: 15:31028373-31028373
35 TRPM1 NM_001252024.2(TRPM1):c.75C>T (p.Asp25=) SNV Uncertain significance 315539 rs777321357 GRCh37: 15:31369116-31369116
GRCh38: 15:31076913-31076913
36 TRPM1 NM_001252024.2(TRPM1):c.378T>C (p.His126=) SNV Uncertain significance 315535 rs769783908 GRCh37: 15:31360197-31360197
GRCh38: 15:31067994-31067994
37 TRPM1 NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met) SNV Uncertain significance 315486 rs753089696 GRCh37: 15:31294065-31294065
GRCh38: 15:31001862-31001862
38 TRPM1 NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=) SNV Uncertain significance 315526 rs755094572 GRCh37: 15:31341695-31341695
GRCh38: 15:31049492-31049492
39 TRPM1 NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His) SNV Uncertain significance 315489 rs117105175 GRCh37: 15:31294258-31294258
GRCh38: 15:31002055-31002055
40 TRPM1 NM_001252024.2(TRPM1):c.942G>A (p.Ala314=) SNV Uncertain significance 315531 rs768420045 GRCh37: 15:31355344-31355344
GRCh38: 15:31063141-31063141
41 TRPM1 NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile) SNV Uncertain significance 315536 rs886051033 GRCh37: 15:31360245-31360245
GRCh38: 15:31068042-31068042
42 TRPM1 NM_001252024.2(TRPM1):c.1905C>T (p.His635=) SNV Uncertain significance 315518 rs377099385 GRCh37: 15:31334336-31334336
GRCh38: 15:31042133-31042133
43 TRPM1 NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=) SNV Uncertain significance 315515 rs756489745 GRCh37: 15:31332369-31332369
GRCh38: 15:31040166-31040166
44 TRPM1 NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter) Duplication Uncertain significance 631725 rs1566982738 GRCh37: 15:31295236-31295237
GRCh38: 15:31003033-31003034
45 TRPM1 NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs) Deletion Uncertain significance 631726 rs1566996007 GRCh37: 15:31318381-31318381
GRCh38: 15:31026178-31026178
46 TRPM1 NM_001252024.2(TRPM1):c.3148+1G>A SNV Uncertain significance 631727 rs779821510 GRCh37: 15:31321573-31321573
GRCh38: 15:31029370-31029370
47 TRPM1 NM_001252024.2(TRPM1):c.2440-2A>G SNV Uncertain significance 632227 rs762634272 GRCh37: 15:31330047-31330047
GRCh38: 15:31037844-31037844
48 TRPM1 NM_001252024.2(TRPM1):c.2317-1G>C SNV Uncertain significance 632228 rs756690940 GRCh37: 15:31330370-31330370
GRCh38: 15:31038167-31038167
49 TRPM1 NM_001252024.2(TRPM1):c.254del (p.Gly85fs) Deletion Uncertain significance 632229 rs1567032774 GRCh37: 15:31362259-31362259
GRCh38: 15:31070056-31070056
50 TRPM1 NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro) SNV Uncertain significance 315528 rs886051031 GRCh37: 15:31342716-31342716
GRCh38: 15:31050513-31050513

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

72 (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

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

Biological processes related to Night Blindness, Congenital Stationary, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.32 TRPM1 CACNA1F
2 detection of light stimulus involved in visual perception GO:0050908 9.26 GRM6 CACNA1F
3 response to stimulus GO:0050896 9.26 TRPM1 NYX GRM6 CACNA1F
4 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.16 TRPM1 GRM6
5 visual perception GO:0007601 9.1 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4

Molecular functions related to Night Blindness, Congenital Stationary, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.62 TRPM1 CACNA1F

Sources for Night Blindness, Congenital Stationary, Type 1c

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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