CRSD
MCID: CNR033
MIFTS: 35

Cone-Rod Synaptic Disorder, Congenital Nonprogressive (CRSD)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

MalaCards integrated aliases for Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

Name: Cone-Rod Synaptic Disorder, Congenital Nonprogressive 57 39 70
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive 57 6
Congenital Stationary Night Blindness, Type 2b 29 6
Crsds 57 72
Crsd 57 72
Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive, Formerly 57
Night Blindness, Congenital Stationary, Type 2b, Formerly; Csnb2b, Formerly 57
Incomplete Congenital Stationary Night Blindness Autosomal Recessive 72
Cone-Rod Synaptic Disorder Syndrome, Congenital Non-Progressive 72
Night Blindness, Congenital Stationary, Type 2b, Formerly 57
Cone-Rod Synaptic Disorder, Congenital Non-Progressive 72
Night Blindness, Congenital Stationary, Type 2b 70
Night Blindness, Congenital Stationary, 2b 72
Incomplete Autosomal Recessive Csnb 72
Csnb2b, Formerly 57
Csnb2b 72

Characteristics:

OMIM®:

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

Miscellaneous:
congenital reduction in visual acuity is nonprogressive


HPO:

31
cone-rod synaptic disorder, congenital nonprogressive:
Inheritance autosomal recessive inheritance

cone-rod synaptic disorder syndrome, congenital nonprogressive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

UniProtKB/Swiss-Prot : 72 Cone-rod synaptic disorder syndrome, congenital non-progressive: An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis.
Cone-rod synaptic disorder, congenital non-progressive: A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness.

MalaCards based summary : Cone-Rod Synaptic Disorder, Congenital Nonprogressive, also known as cone-rod synaptic disorder syndrome, congenital nonprogressive, is related to non 24 hour sleep wake disorder and sleep disorder, and has symptoms including photophobia An important gene associated with Cone-Rod Synaptic Disorder, Congenital Nonprogressive is CABP4 (Calcium Binding Protein 4). Affiliated tissues include eye and brain, and related phenotypes are strabismus and color vision defect

OMIM® : 57 Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014). (610427) (Updated 20-May-2021)

Related Diseases for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Diseases related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 non 24 hour sleep wake disorder 11.0
2 sleep disorder 10.2
3 avoidant personality disorder 10.1
4 personality disorder 10.1
5 delayed sleep phase disorder 9.9
6 advanced sleep phase syndrome 9.9
7 cone-rod dystrophy 7 9.6 RIMS2 CABP4
8 congenital stationary night blindness 9.5 RIMS2 CABP4

Graphical network of the top 20 diseases related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive:



Diseases related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Symptoms & Phenotypes for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Human phenotypes related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 strabismus 31 occasional (7.5%) HP:0000486
2 color vision defect 31 occasional (7.5%) HP:0000551
3 nystagmus 31 very rare (1%) HP:0000639
4 ataxia 31 very rare (1%) HP:0001251
5 delayed speech and language development 31 very rare (1%) HP:0000750
6 photophobia 31 very rare (1%) HP:0000613
7 anxiety 31 very rare (1%) HP:0000739
8 reduced visual acuity 31 very rare (1%) HP:0007663
9 optic disc pallor 31 very rare (1%) HP:0000543
10 autistic behavior 31 very rare (1%) HP:0000729
11 hyperglycemia 31 very rare (1%) HP:0003074
12 retinal thinning 31 very rare (1%) HP:0030329
13 global developmental delay 31 HP:0001263
14 visual impairment 31 HP:0000505
15 congenital stationary night blindness 31 HP:0007642
16 electronegative electroretinogram 31 HP:0007984

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
photophobia
strabismus (in some patients)
decreased visual acuity from infancy or early childhood
night blindness (rare)
more

Clinical features from OMIM®:

610427 618970 (Updated 20-May-2021)

UMLS symptoms related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive:


photophobia

Drugs & Therapeutics for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Search Clinical Trials , NIH Clinical Center for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Genetic Tests for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Genetic tests related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 2b 29 CABP4

Anatomical Context for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

MalaCards organs/tissues related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

40
Eye, Brain

Publications for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Articles related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

(show all 27)
# Title Authors PMID Year
1
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 57 6
23714322 2013
2
Clinical characterisation of the CABP4-related retinal phenotype. 57 6
23099293 2013
3
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. 57 6
20157620 2010
4
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. 6 57
19074807 2009
5
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. 57 6
16960802 2006
6
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. 6
32470375 2020
7
CABP4 mutations do not cause congenital stationary night blindness. 57
24332535 2014
8
Childhood retinal dystrophies: what's in a name? 57
23242674 2013
9
Predicting and analyzing early wake-up associated gene expressions by integrating GWAS and eQTL studies. 61
29109033 2018
10
Delayed sleep-wake phase disorder. 61
29445534 2018
11
Evaluation of circadian phenotypes utilizing fibroblasts from patients with circadian rhythm sleep disorders. 61
28440811 2017
12
High Prevalence of Orthostatic Dysregulation among Circadian Rhythm Disorder Patients. 61
27568888 2016
13
[Circadian rhythm sleep disorder]. 61
24437262 2013
14
Circadian rhythm abnormalities. 61
23385698 2013
15
In vitro circadian period is associated with circadian/sleep preference. 61
23797865 2013
16
Circadian rhythm sleep disorders. 61
23099133 2012
17
Neurophysiology of circadian rhythm sleep disorders of children with neurodevelopmental disabilities. 61
22264650 2012
18
Pathophysiology and pathogenesis of circadian rhythm sleep disorders. 61
22738311 2012
19
[Circadian rhythm sleep disorders]. 61
19768931 2009
20
The roles of melatonin and light in the pathophysiology and treatment of circadian rhythm sleep disorders. 61
18628753 2008
21
Practice parameters for the clinical evaluation and treatment of circadian rhythm sleep disorders. An American Academy of Sleep Medicine report. 61
18041479 2007
22
Circadian rhythm sleep disorders: part I, basic principles, shift work and jet lag disorders. An American Academy of Sleep Medicine review. 61
18041480 2007
23
Circadian rhythm sleep disorders: part II, advanced sleep phase disorder, delayed sleep phase disorder, free-running disorder, and irregular sleep-wake rhythm. An American Academy of Sleep Medicine review. 61
18041481 2007
24
Circadian rhythm sleep disorders following mild traumatic brain injury. 61
17404196 2007
25
Behavioral and psychiatric consequences of sleep-wake schedule disorders. 61
16416711 2005
26
Melatonin, sleep, and circadian rhythms: rationale for development of specific melatonin agonists. 61
15511698 2004
27
Circadian rhythm sleep disorders: toward a more precise definition and diagnosis. 61
10219492 1999

Variations for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

ClinVar genetic disease variations for Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

6 (show top 50) (show all 112)
# 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.646C>T (p.Arg216Ter) SNV Pathogenic 190959 rs150115958 GRCh37: 11:67225148-67225148
GRCh38: 11:67457677-67457677
4 RIMS2 NM_001100117.3(RIMS2):c.2901G>A (p.Trp967Ter) SNV Pathogenic 974607 GRCh37: 8:104987708-104987708
GRCh38: 8:103975480-103975480
5 RIMS2 NM_001100117.3(RIMS2):c.2659C>T (p.Arg887Ter) SNV Pathogenic 974608 GRCh37: 8:104955112-104955112
GRCh38: 8:103942884-103942884
6 RIMS2 NM_001100117.3(RIMS2):c.3589+1G>A SNV Pathogenic 974609 GRCh37: 8:105261042-105261042
GRCh38: 8:104248814-104248814
7 RIMS2 NM_001100117.3(RIMS2):c.3283C>T (p.Arg1095Ter) SNV Pathogenic 974610 GRCh37: 8:105026792-105026792
GRCh38: 8:104014564-104014564
8 RIMS2 NM_001100117.3(RIMS2):c.1463C>G (p.Ser488Ter) SNV Pathogenic 974611 GRCh37: 8:104898290-104898290
GRCh38: 8:103886062-103886062
9 CABP4 NM_145200.4(CABP4):c.673C>T (p.Arg225Ter) SNV Pathogenic 438047 rs531851447 GRCh37: 11:67225863-67225863
GRCh38: 11:67458392-67458392
10 CABP4 NM_145200.3(CABP4):c.800_801delAG (p.Glu267Valfs) Microsatellite Pathogenic 1952 rs786205249 GRCh37: 11:67226100-67226101
GRCh38: 11:67458629-67458630
11 CABP4 NM_145200.5(CABP4):c.214A>C (p.Asn72His) SNV Uncertain significance 854494 GRCh37: 11:67223108-67223108
GRCh38: 11:67455637-67455637
12 CABP4 NM_145200.4(CABP4):c.315C>T (p.His105=) SNV Uncertain significance 305645 rs756570102 GRCh37: 11:67223209-67223209
GRCh38: 11:67455738-67455738
13 CABP4 NM_145200.4(CABP4):c.*1527C>T SNV Uncertain significance 305680 rs547246461 GRCh37: 11:67227657-67227657
GRCh38: 11:67460186-67460186
14 CABP4 NM_145200.4(CABP4):c.547G>C (p.Gly183Arg) SNV Uncertain significance 305657 rs146764702 GRCh37: 11:67225049-67225049
GRCh38: 11:67457578-67457578
15 CABP4 NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) SNV Uncertain significance 879898 GRCh37: 11:67223124-67223124
GRCh38: 11:67455653-67455653
16 CABP4 NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) SNV Uncertain significance 877962 GRCh37: 11:67223689-67223689
GRCh38: 11:67456218-67456218
17 CABP4 NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) SNV Uncertain significance 877963 GRCh37: 11:67223787-67223787
GRCh38: 11:67456316-67456316
18 CABP4 NM_145200.5(CABP4):c.*1190T>C SNV Uncertain significance 878175 GRCh37: 11:67227320-67227320
GRCh38: 11:67459849-67459849
19 CABP4 NM_145200.5(CABP4):c.*1402G>A SNV Uncertain significance 878177 GRCh37: 11:67227532-67227532
GRCh38: 11:67460061-67460061
20 CABP4 NM_145200.5(CABP4):c.*1413C>T SNV Uncertain significance 878178 GRCh37: 11:67227543-67227543
GRCh38: 11:67460072-67460072
21 CABP4 NM_145200.5(CABP4):c.*2357A>G SNV Uncertain significance 878240 GRCh37: 11:67228487-67228487
GRCh38: 11:67461016-67461016
22 CABP4 NM_145200.4(CABP4):c.*2187G>C SNV Uncertain significance 305707 rs886048579 GRCh37: 11:67228317-67228317
GRCh38: 11:67460846-67460846
23 CABP4 NM_145200.4(CABP4):c.816C>T (p.Leu272=) SNV Uncertain significance 305661 rs371952355 GRCh37: 11:67226118-67226118
GRCh38: 11:67458647-67458647
24 CABP4 NM_145200.4(CABP4):c.318C>T (p.Asp106=) SNV Uncertain significance 305646 rs375330570 GRCh37: 11:67223212-67223212
GRCh38: 11:67455741-67455741
25 CABP4 NM_145200.4(CABP4):c.398-8C>T SNV Uncertain significance 305649 rs372275562 GRCh37: 11:67223762-67223762
GRCh38: 11:67456291-67456291
26 CABP4 NM_145200.4(CABP4):c.281G>A (p.Arg94His) SNV Uncertain significance 305643 rs143040005 GRCh37: 11:67223175-67223175
GRCh38: 11:67455704-67455704
27 CABP4 NM_145200.4(CABP4):c.*2089T>C SNV Uncertain significance 305704 rs886048576 GRCh37: 11:67228219-67228219
GRCh38: 11:67460748-67460748
28 CABP4 NM_145200.4(CABP4):c.*1285G>A SNV Uncertain significance 305676 rs373857371 GRCh37: 11:67227415-67227415
GRCh38: 11:67459944-67459944
29 CABP4 NM_145200.4(CABP4):c.522G>A (p.Ser174=) SNV Uncertain significance 305652 rs143344989 GRCh37: 11:67223894-67223894
GRCh38: 11:67456423-67456423
30 CABP4 NM_145200.4(CABP4):c.*683A>G SNV Uncertain significance 305670 rs146218513 GRCh37: 11:67226813-67226813
GRCh38: 11:67459342-67459342
31 CABP4 NM_145200.4(CABP4):c.*2438G>A SNV Uncertain significance 305713 rs886048582 GRCh37: 11:67228568-67228568
GRCh38: 11:67461097-67461097
32 CABP4 NM_145200.4(CABP4):c.*1040C>A SNV Uncertain significance 305673 rs186530202 GRCh37: 11:67227170-67227170
GRCh38: 11:67459699-67459699
33 CABP4 NM_145200.4(CABP4):c.*26C>T SNV Uncertain significance 305662 rs747352890 GRCh37: 11:67226156-67226156
GRCh38: 11:67458685-67458685
34 CABP4 NM_145200.4(CABP4):c.309C>T (p.Ser103=) SNV Uncertain significance 305644 rs555315887 GRCh37: 11:67223203-67223203
GRCh38: 11:67455732-67455732
35 CABP4 NM_145200.4(CABP4):c.*1939A>G SNV Uncertain significance 305702 rs886048574 GRCh37: 11:67228069-67228069
GRCh38: 11:67460598-67460598
36 CABP4 NM_145200.4(CABP4):c.194A>G (p.Glu65Gly) SNV Uncertain significance 305641 rs886048559 GRCh37: 11:67223088-67223088
GRCh38: 11:67455617-67455617
37 CABP4 NM_145200.4(CABP4):c.*2098C>T SNV Uncertain significance 305705 rs886048577 GRCh37: 11:67228228-67228228
GRCh38: 11:67460757-67460757
38 CABP4 NM_145200.4(CABP4):c.*262C>G SNV Uncertain significance 305665 rs886048562 GRCh37: 11:67226392-67226392
GRCh38: 11:67458921-67458921
39 CABP4 NM_145200.4(CABP4):c.432C>T (p.Asp144=) SNV Uncertain significance 305650 rs766247910 GRCh37: 11:67223804-67223804
GRCh38: 11:67456333-67456333
40 CABP4 NM_145200.4(CABP4):c.*669T>C SNV Uncertain significance 305668 rs886048564 GRCh37: 11:67226799-67226799
GRCh38: 11:67459328-67459328
41 CABP4 NM_145200.4(CABP4):c.*1291A>G SNV Uncertain significance 305677 rs146149609 GRCh37: 11:67227421-67227421
GRCh38: 11:67459950-67459950
42 CABP4 NM_145200.4(CABP4):c.*1117C>A SNV Uncertain significance 305674 rs565802060 GRCh37: 11:67227247-67227247
GRCh38: 11:67459776-67459776
43 CABP4 NM_145200.4(CABP4):c.69G>A (p.Ala23=) SNV Uncertain significance 305640 rs775292545 GRCh37: 11:67222963-67222963
GRCh38: 11:67455492-67455492
44 CABP4 NM_145200.4(CABP4):c.*2583C>T SNV Uncertain significance 305714 rs886048583 GRCh37: 11:67228713-67228713
GRCh38: 11:67461242-67461242
45 CABP4 NM_145200.4(CABP4):c.524A>G (p.Gln175Arg) SNV Uncertain significance 305653 rs886048560 GRCh37: 11:67223896-67223896
GRCh38: 11:67456425-67456425
46 CABP4 NM_145200.4(CABP4):c.651+15G>A SNV Uncertain significance 305658 rs199749736 GRCh37: 11:67225168-67225168
GRCh38: 11:67457697-67457697
47 CABP4 NM_145200.4(CABP4):c.*2709G>A SNV Uncertain significance 305717 rs189502443 GRCh37: 11:67228839-67228839
GRCh38: 11:67461368-67461368
48 CABP4 NM_145200.4(CABP4):c.*1827C>T SNV Uncertain significance 305683 rs886048566 GRCh37: 11:67227957-67227957
GRCh38: 11:67460486-67460486
49 CABP4 NM_145200.4(CABP4):c.*2065T>G SNV Uncertain significance 305703 rs886048575 GRCh37: 11:67228195-67228195
GRCh38: 11:67460724-67460724
50 CABP4 NM_145200.4(CABP4):c.367-8C>T SNV Uncertain significance 305648 rs200871690 GRCh37: 11:67223651-67223651
GRCh38: 11:67456180-67456180

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Synaptic Disorder, Congenital Nonprogressive:

72
# Symbol AA change Variation ID SNP ID
1 CABP4 p.Arg124Cys VAR_029375 rs121917828

Expression for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Search GEO for disease gene expression data for Cone-Rod Synaptic Disorder, Congenital Nonprogressive.

Pathways for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

GO Terms for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Cellular components related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.16 RIMS2 CABP4
2 cell junction GO:0030054 8.96 RIMS2 CABP4
3 synapse GO:0045202 8.62 RIMS2 CABP4

Molecular functions related to Cone-Rod Synaptic Disorder, Congenital Nonprogressive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 RIMS2 CABP4

Sources for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

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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