CRSD
MCID: CNR033
MIFTS: 21

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 58 74
Congenital Stationary Night Blindness, Type 2b 30 6
Crsd 58 76
Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive, Formerly 58
Night Blindness, Congenital Stationary, Type 2b, Formerly; Csnb2b, Formerly 58
Incomplete Congenital Stationary Night Blindness Autosomal Recessive 76
Night Blindness, Congenital Stationary, Type 2b, Formerly 58
Cone-Rod Synaptic Disorder, Congenital Non-Progressive 76
Blindness, Night, Stationary, Congenital, Type 2b 41
Night Blindness, Congenital Stationary, Type 2b 74
Night Blindness, Congenital Stationary, 2b 76
Incomplete Autosomal Recessive Csnb 76
Csnb2b, Formerly 58
Csnb2b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
congenital reduction in visual acuity is nonprogressive


HPO:

33
cone-rod synaptic disorder, congenital nonprogressive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

OMIM : 58 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)

MalaCards based summary : Cone-Rod Synaptic Disorder, Congenital Nonprogressive, also known as congenital stationary night blindness, type 2b, is related to non 24 hour sleep wake disorder and personality disorder, and has symptoms including photophobia An important gene associated with Cone-Rod Synaptic Disorder, Congenital Nonprogressive is CABP4 (Calcium Binding Protein 4). Related phenotypes are strabismus and abnormality of color vision

UniProtKB/Swiss-Prot : 76 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.

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 11.2
2 personality disorder 10.2

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 strabismus 33 occasional (7.5%) HP:0000486
2 abnormality of color vision 33 occasional (7.5%) HP:0000551
3 nystagmus 33 HP:0000639
4 visual impairment 33 HP:0000505
5 photophobia 33 HP:0000613
6 congenital stationary night blindness 33 HP:0007642
7 electronegative electroretinogram 33 HP:0007984

Symptoms via clinical synopsis from OMIM:

58
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

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 30

Anatomical Context for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Publications for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Variations for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

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

76
# Symbol AA change Variation ID SNP ID
1 CABP4 p.Arg124Cys VAR_029375 rs121917828

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CABP4 NM_145200.3(CABP4): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs150115958 GRCh38 Chromosome 11, 67457677: 67457677
2 CABP4 NM_145200.3(CABP4): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs150115958 GRCh37 Chromosome 11, 67225148: 67225148
3 CABP4 NM_145200.3(CABP4): c.81_82insA (p.Pro28Thrfs) insertion Pathogenic rs786205852 GRCh38 Chromosome 11, 67455504: 67455505
4 CABP4 NM_145200.3(CABP4): c.81_82insA (p.Pro28Thrfs) insertion Pathogenic rs786205852 GRCh37 Chromosome 11, 67222975: 67222976
5 CABP4 NM_145200.3(CABP4): c.800_801delAG (p.Glu267Valfs) deletion Pathogenic rs786205249 GRCh38 Chromosome 11, 67458631: 67458632
6 CABP4 NM_145200.3(CABP4): c.800_801delAG (p.Glu267Valfs) deletion Pathogenic rs786205249 GRCh37 Chromosome 11, 67226102: 67226103
7 CABP4 NM_145200.3(CABP4): c.370C> T (p.Arg124Cys) single nucleotide variant Pathogenic rs121917828 GRCh37 Chromosome 11, 67223662: 67223662
8 CABP4 NM_145200.3(CABP4): c.370C> T (p.Arg124Cys) single nucleotide variant Pathogenic rs121917828 GRCh38 Chromosome 11, 67456191: 67456191
9 CABP4 NM_145200.3(CABP4): c.360C> T (p.Phe120=) single nucleotide variant Conflicting interpretations of pathogenicity rs192900242 GRCh38 Chromosome 11, 67455783: 67455783
10 CABP4 NM_145200.3(CABP4): c.360C> T (p.Phe120=) single nucleotide variant Conflicting interpretations of pathogenicity rs192900242 GRCh37 Chromosome 11, 67223254: 67223254

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

Sources for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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