MCID: ATS169
MIFTS: 29

Autosomal Recessive Congenital Stationary Night Blindness

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

Aliases & Classifications for Autosomal Recessive Congenital Stationary Night Blindness

MalaCards integrated aliases for Autosomal Recessive Congenital Stationary Night Blindness:

Name: Autosomal Recessive Congenital Stationary Night Blindness 43
Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive 6
Autosomal Recessive Incomplete Congenital Stationary Night Blindness 43
Autosomal Recessive Complete Congenital Stationary Night Blindness 43

Classifications:



Summaries for Autosomal Recessive Congenital Stationary Night Blindness

MedlinePlus Genetics : 43 Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.

MalaCards based summary : Autosomal Recessive Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, incomplete, autosomal recessive, is related to night blindness, congenital stationary, type 1h and night blindness, congenital stationary, type 1a. An important gene associated with Autosomal Recessive Congenital Stationary Night Blindness is CABP4 (Calcium Binding Protein 4), and among its related pathways/superpathways are CREB Pathway and Taste transduction. Affiliated tissues include eye and retina, and related phenotypes are nervous system and vision/eye

Related Diseases for Autosomal Recessive Congenital Stationary Night Blindness

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 Autosomal Recessive Congenital Stationary Night Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1h 30.1 GNB3 CDCA3
2 night blindness, congenital stationary, type 1a 30.0 GRM6 GNAT1 CABP4
3 night blindness, congenital stationary, type 1c 29.7 TRPM1 GRM6 CABP4
4 night blindness, congenital stationary, type 1b 29.4 TRPM1 SLC24A1 GRM6 GNAT1 CABP4
5 myopia 29.4 TRPM1 SLC24A1 GRM6 GNB3 GNAT1
6 congenital stationary night blindness 28.8 TRPM1 SLC24A1 GRM6 GNB3 GNAT1 CDCA3
7 night blindness 28.8 TRPM1 SLC24A1 GRM6 GNB3 GNAT1 CDCA3
8 cone-rod synaptic disorder, congenital nonprogressive 11.6
9 yemenite deaf-blind hypopigmentation syndrome 10.7
10 pathologic nystagmus 10.5
11 night blindness, congenital stationary, type 1d 10.4
12 night blindness, congenital stationary, type 1f 10.3
13 strabismus 10.3
14 night blindness, congenital stationary, type 1e 10.3
15 night blindness, congenital stationary, type 1g 10.3
16 ifap syndrome 2 10.3
17 mechanical strabismus 10.3
18 oguchi disease 9.8 GRM6 GNAT1
19 fundus albipunctatus 9.7 SLC24A1 GNAT1 CABP4
20 retinal disease 9.6 GRM6 GNAT1 CABP4
21 retinoschisis 1, x-linked, juvenile 9.5 TRPM1 GRM6 CABP4
22 leber plus disease 9.5 SLC24A1 GRM6 GNAT1 CABP4
23 abnormal threshold of rods 9.3 TRPM1 GRM6 GNAT1 CABP4
24 fundus dystrophy 8.8 TRPM1 SLC24A1 GRM6 GNB3 GNAT1 CABP4
25 retinitis pigmentosa 8.8 TRPM1 SLC24A1 GRM6 GNAT1 CABP4

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Stationary Night Blindness:



Diseases related to Autosomal Recessive Congenital Stationary Night Blindness

Symptoms & Phenotypes for Autosomal Recessive Congenital Stationary Night Blindness

MGI Mouse Phenotypes related to Autosomal Recessive Congenital Stationary Night Blindness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 CABP4 GNAT1 GNB3 GRM6 SLC24A1 TRPM1
2 vision/eye MP:0005391 9.1 CABP4 GNAT1 GNB3 GRM6 SLC24A1 TRPM1

Drugs & Therapeutics for Autosomal Recessive Congenital Stationary Night Blindness

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Congenital Stationary Night Blindness

Genetic Tests for Autosomal Recessive Congenital Stationary Night Blindness

Anatomical Context for Autosomal Recessive Congenital Stationary Night Blindness

MalaCards organs/tissues related to Autosomal Recessive Congenital Stationary Night Blindness:

40
Eye, Retina

Publications for Autosomal Recessive Congenital Stationary Night Blindness

Articles related to Autosomal Recessive Congenital Stationary Night Blindness:

(show all 20)
# Title Authors PMID Year
1
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 6
23714322 2013
2
Clinical characterisation of the CABP4-related retinal phenotype. 6
23099293 2013
3
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. 6
20157620 2010
4
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. 6
19074807 2009
5
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. 6
16960802 2006
6
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing. 61
31677249 2019
7
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. 61
31427709 2019
8
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. 61
26822852 2016
9
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 61
27063057 2016
10
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. 61
27977773 2016
11
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. 61
26628857 2015
12
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. 61
26368928 2015
13
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. 61
24668847 2014
14
GNAT1 associated with autosomal recessive congenital stationary night blindness. 61
22190596 2012
15
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. 61
20850105 2010
16
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. 61
19896113 2009
17
Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses. 61
18687716 2008
18
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. 61
17405131 2007
19
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 61
16249515 2005
20
Congenital stationary night blindness presenting as Leber's congenital amaurosis. 61
3493759 1987

Variations for Autosomal Recessive Congenital Stationary Night Blindness

ClinVar genetic disease variations for Autosomal Recessive Congenital Stationary Night Blindness:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CABP4 NM_001300895.2(CABP4):c.-303_-302insA Insertion Pathogenic 190960 rs786205852 GRCh37: 11:67222975-67222976
GRCh38: 11:67455504-67455505
2 CABP4 NM_001300895.2(CABP4):c.-323_-322delinsA Indel Pathogenic 635475 rs1590998813 GRCh37: 11:67222955-67222956
GRCh38: 11:67455484-67455485
3 CABP4 NM_145200.4(CABP4):c.673C>T (p.Arg225Ter) SNV Pathogenic 438047 rs531851447 GRCh37: 11:67225863-67225863
GRCh38: 11:67458392-67458392
4 CABP4 NM_145200.4(CABP4):c.646C>T (p.Arg216Ter) SNV Pathogenic 190959 rs150115958 GRCh37: 11:67225148-67225148
GRCh38: 11:67457677-67457677
5 CABP4 NM_145200.3(CABP4):c.800_801delAG (p.Glu267Valfs) Microsatellite Pathogenic 1952 rs786205249 GRCh37: 11:67226100-67226101
GRCh38: 11:67458629-67458630
6 CABP4 NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) SNV Uncertain significance 879898 GRCh37: 11:67223124-67223124
GRCh38: 11:67455653-67455653
7 CABP4 NM_145200.4(CABP4):c.315C>T (p.His105=) SNV Uncertain significance 305645 rs756570102 GRCh37: 11:67223209-67223209
GRCh38: 11:67455738-67455738
8 CABP4 NM_145200.4(CABP4):c.*1527C>T SNV Uncertain significance 305680 rs547246461 GRCh37: 11:67227657-67227657
GRCh38: 11:67460186-67460186
9 CABP4 NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) SNV Uncertain significance 877962 GRCh37: 11:67223689-67223689
GRCh38: 11:67456218-67456218
10 CABP4 NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) SNV Uncertain significance 877963 GRCh37: 11:67223787-67223787
GRCh38: 11:67456316-67456316
11 CABP4 NM_145200.5(CABP4):c.*1190T>C SNV Uncertain significance 878175 GRCh37: 11:67227320-67227320
GRCh38: 11:67459849-67459849
12 CABP4 NM_145200.5(CABP4):c.*1402G>A SNV Uncertain significance 878177 GRCh37: 11:67227532-67227532
GRCh38: 11:67460061-67460061
13 CABP4 NM_145200.5(CABP4):c.*1413C>T SNV Uncertain significance 878178 GRCh37: 11:67227543-67227543
GRCh38: 11:67460072-67460072
14 CABP4 NM_145200.5(CABP4):c.*2357A>G SNV Uncertain significance 878240 GRCh37: 11:67228487-67228487
GRCh38: 11:67461016-67461016
15 CABP4 NM_145200.4(CABP4):c.547G>C (p.Gly183Arg) SNV Uncertain significance 305657 rs146764702 GRCh37: 11:67225049-67225049
GRCh38: 11:67457578-67457578
16 CABP4 NM_145200.4(CABP4):c.*2187G>C SNV Uncertain significance 305707 rs886048579 GRCh37: 11:67228317-67228317
GRCh38: 11:67460846-67460846
17 CABP4 NM_145200.4(CABP4):c.816C>T (p.Leu272=) SNV Uncertain significance 305661 rs371952355 GRCh37: 11:67226118-67226118
GRCh38: 11:67458647-67458647
18 CABP4 NM_145200.4(CABP4):c.318C>T (p.Asp106=) SNV Uncertain significance 305646 rs375330570 GRCh37: 11:67223212-67223212
GRCh38: 11:67455741-67455741
19 CABP4 NM_145200.4(CABP4):c.398-8C>T SNV Uncertain significance 305649 rs372275562 GRCh37: 11:67223762-67223762
GRCh38: 11:67456291-67456291
20 CABP4 NM_145200.4(CABP4):c.281G>A (p.Arg94His) SNV Uncertain significance 305643 rs143040005 GRCh37: 11:67223175-67223175
GRCh38: 11:67455704-67455704
21 CABP4 NM_145200.4(CABP4):c.*2089T>C SNV Uncertain significance 305704 rs886048576 GRCh37: 11:67228219-67228219
GRCh38: 11:67460748-67460748
22 CABP4 NM_145200.4(CABP4):c.*1285G>A SNV Uncertain significance 305676 rs373857371 GRCh37: 11:67227415-67227415
GRCh38: 11:67459944-67459944
23 CABP4 NM_145200.4(CABP4):c.522G>A (p.Ser174=) SNV Uncertain significance 305652 rs143344989 GRCh37: 11:67223894-67223894
GRCh38: 11:67456423-67456423
24 CABP4 NM_145200.4(CABP4):c.*683A>G SNV Uncertain significance 305670 rs146218513 GRCh37: 11:67226813-67226813
GRCh38: 11:67459342-67459342
25 CABP4 NM_145200.4(CABP4):c.*2438G>A SNV Uncertain significance 305713 rs886048582 GRCh37: 11:67228568-67228568
GRCh38: 11:67461097-67461097
26 CABP4 NM_145200.4(CABP4):c.*1040C>A SNV Uncertain significance 305673 rs186530202 GRCh37: 11:67227170-67227170
GRCh38: 11:67459699-67459699
27 CABP4 NM_145200.4(CABP4):c.*26C>T SNV Uncertain significance 305662 rs747352890 GRCh37: 11:67226156-67226156
GRCh38: 11:67458685-67458685
28 CABP4 NM_145200.4(CABP4):c.309C>T (p.Ser103=) SNV Uncertain significance 305644 rs555315887 GRCh37: 11:67223203-67223203
GRCh38: 11:67455732-67455732
29 CABP4 NM_145200.4(CABP4):c.*1939A>G SNV Uncertain significance 305702 rs886048574 GRCh37: 11:67228069-67228069
GRCh38: 11:67460598-67460598
30 CABP4 NM_145200.4(CABP4):c.194A>G (p.Glu65Gly) SNV Uncertain significance 305641 rs886048559 GRCh37: 11:67223088-67223088
GRCh38: 11:67455617-67455617
31 CABP4 NM_145200.4(CABP4):c.*2098C>T SNV Uncertain significance 305705 rs886048577 GRCh37: 11:67228228-67228228
GRCh38: 11:67460757-67460757
32 CABP4 NM_145200.4(CABP4):c.*262C>G SNV Uncertain significance 305665 rs886048562 GRCh37: 11:67226392-67226392
GRCh38: 11:67458921-67458921
33 CABP4 NM_145200.4(CABP4):c.432C>T (p.Asp144=) SNV Uncertain significance 305650 rs766247910 GRCh37: 11:67223804-67223804
GRCh38: 11:67456333-67456333
34 CABP4 NM_145200.4(CABP4):c.*669T>C SNV Uncertain significance 305668 rs886048564 GRCh37: 11:67226799-67226799
GRCh38: 11:67459328-67459328
35 CABP4 NM_145200.4(CABP4):c.*1291A>G SNV Uncertain significance 305677 rs146149609 GRCh37: 11:67227421-67227421
GRCh38: 11:67459950-67459950
36 CABP4 NM_145200.4(CABP4):c.*1117C>A SNV Uncertain significance 305674 rs565802060 GRCh37: 11:67227247-67227247
GRCh38: 11:67459776-67459776
37 CABP4 NM_145200.4(CABP4):c.69G>A (p.Ala23=) SNV Uncertain significance 305640 rs775292545 GRCh37: 11:67222963-67222963
GRCh38: 11:67455492-67455492
38 CABP4 NM_145200.4(CABP4):c.*2583C>T SNV Uncertain significance 305714 rs886048583 GRCh37: 11:67228713-67228713
GRCh38: 11:67461242-67461242
39 CABP4 NM_145200.4(CABP4):c.524A>G (p.Gln175Arg) SNV Uncertain significance 305653 rs886048560 GRCh37: 11:67223896-67223896
GRCh38: 11:67456425-67456425
40 CABP4 NM_145200.4(CABP4):c.651+15G>A SNV Uncertain significance 305658 rs199749736 GRCh37: 11:67225168-67225168
GRCh38: 11:67457697-67457697
41 CABP4 NM_145200.4(CABP4):c.*2709G>A SNV Uncertain significance 305717 rs189502443 GRCh37: 11:67228839-67228839
GRCh38: 11:67461368-67461368
42 CABP4 NM_145200.4(CABP4):c.*1827C>T SNV Uncertain significance 305683 rs886048566 GRCh37: 11:67227957-67227957
GRCh38: 11:67460486-67460486
43 CABP4 NM_145200.4(CABP4):c.*2065T>G SNV Uncertain significance 305703 rs886048575 GRCh37: 11:67228195-67228195
GRCh38: 11:67460724-67460724
44 CABP4 NM_145200.4(CABP4):c.367-8C>T SNV Uncertain significance 305648 rs200871690 GRCh37: 11:67223651-67223651
GRCh38: 11:67456180-67456180
45 CABP4 NM_145200.4(CABP4):c.*2331A>G SNV Uncertain significance 305712 rs886048581 GRCh37: 11:67228461-67228461
GRCh38: 11:67460990-67460990
46 CABP4 NM_145200.4(CABP4):c.*324C>A SNV Uncertain significance 305666 rs886048563 GRCh37: 11:67226454-67226454
GRCh38: 11:67458983-67458983
47 CABP4 NM_145200.4(CABP4):c.*2668G>A SNV Uncertain significance 305715 rs116414393 GRCh37: 11:67228798-67228798
GRCh38: 11:67461327-67461327
48 CABP4 NM_145200.4(CABP4):c.*681A>G SNV Uncertain significance 305669 rs543961015 GRCh37: 11:67226811-67226811
GRCh38: 11:67459340-67459340
49 CABP4 NM_145200.4(CABP4):c.*1933C>A SNV Uncertain significance 305701 rs886048573 GRCh37: 11:67228063-67228063
GRCh38: 11:67460592-67460592
50 CABP4 NM_145200.4(CABP4):c.-27G>A SNV Uncertain significance 305638 rs192302421 GRCh37: 11:67222868-67222868
GRCh38: 11:67455397-67455397

Expression for Autosomal Recessive Congenital Stationary Night Blindness

Search GEO for disease gene expression data for Autosomal Recessive Congenital Stationary Night Blindness.

Pathways for Autosomal Recessive Congenital Stationary Night Blindness

Pathways related to Autosomal Recessive Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 TRPM1 GRM6 GNB3 GNAT1
2
Show member pathways
11.36 GRM6 GNB3
3
Show member pathways
11.33 SLC24A1 GNB3 GNAT1
4 10.77 SLC24A1 GNAT1 CABP4

GO Terms for Autosomal Recessive Congenital Stationary Night Blindness

Cellular components related to Autosomal Recessive Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.62 GNB3 GNAT1

Biological processes related to Autosomal Recessive Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 TRPM1 SLC24A1 GRM6 GNAT1
2 calcium ion transmembrane transport GO:0070588 9.43 TRPM1 SLC24A1
3 retina development in camera-type eye GO:0060041 9.4 GRM6 GNAT1
4 phototransduction GO:0007602 9.37 GNAT1 CABP4
5 detection of light stimulus involved in visual perception GO:0050908 9.32 GRM6 GNAT1
6 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.26 TRPM1 GRM6
7 visual perception GO:0007601 9.02 TRPM1 SLC24A1 GRM6 GNAT1 CABP4
8 response to light intensity GO:0009642 8.96 SLC24A1 GNAT1

Molecular functions related to Autosomal Recessive Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.62 TRPM1 SLC24A1

Sources for Autosomal Recessive Congenital Stationary Night Blindness

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
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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