MCID: CNR033
MIFTS: 20

Cone-Rod Synaptic Disorder, Congenital Nonprogressive

Categories: 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 73
Congenital Stationary Night Blindness, Type 2b 29 6
Crsd 57 75
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 75
Night Blindness, Congenital Stationary, Type 2b, Formerly 57
Cone-Rod Synaptic Disorder, Congenital Non-Progressive 75
Blindness, Night, Stationary, Congenital, Type 2b 40
Night Blindness, Congenital Stationary, Type 2b 73
Night Blindness, Congenital Stationary, 2b 75
Incomplete Autosomal Recessive Csnb 75
Csnb2b, Formerly 57
Csnb2b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital reduction in visual acuity is nonprogressive


HPO:

32
cone-rod synaptic disorder, congenital nonprogressive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Synaptic Disorder, Congenital Nonprogressive

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)

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 has symptoms including photophobia An important gene associated with Cone-Rod Synaptic Disorder, Congenital Nonprogressive is CABP4 (Calcium Binding Protein 4). Related phenotypes are nystagmus and visual impairment

UniProtKB/Swiss-Prot : 75 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 11.0

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

610427

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 photophobia 32 HP:0000613
4 strabismus 32 occasional (7.5%) HP:0000486
5 abnormality of color vision 32 occasional (7.5%) HP:0000551
6 congenital stationary night blindness 32 HP:0007642
7 electronegative electroretinogram 32 HP:0007984

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

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:

75
# 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.800_801delAG (p.Glu267Valfs) deletion Pathogenic rs786205249 GRCh38 Chromosome 11, 67458631: 67458632
2 CABP4 NM_145200.3(CABP4): c.800_801delAG (p.Glu267Valfs) deletion Pathogenic rs786205249 GRCh37 Chromosome 11, 67226102: 67226103
3 CABP4 NM_145200.3(CABP4): c.370C> T (p.Arg124Cys) single nucleotide variant Pathogenic rs121917828 GRCh37 Chromosome 11, 67223662: 67223662
4 CABP4 NM_145200.3(CABP4): c.370C> T (p.Arg124Cys) single nucleotide variant Pathogenic rs121917828 GRCh38 Chromosome 11, 67456191: 67456191
5 CABP4 NM_145200.3(CABP4): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs150115958 GRCh38 Chromosome 11, 67457677: 67457677
6 CABP4 NM_145200.3(CABP4): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs150115958 GRCh37 Chromosome 11, 67225148: 67225148
7 CABP4 NM_145200.3(CABP4): c.81_82insA (p.Pro28Thrfs) insertion Pathogenic rs786205852 GRCh38 Chromosome 11, 67455504: 67455505
8 CABP4 NM_145200.3(CABP4): c.81_82insA (p.Pro28Thrfs) insertion Pathogenic rs786205852 GRCh37 Chromosome 11, 67222975: 67222976
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

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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