CSNB1I
MCID: NGH031
MIFTS: 19

Night Blindness, Congenital Stationary, Type1i (CSNB1I)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Type1i

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type1i:

Name: Night Blindness, Congenital Stationary, Type1i 57 6
Csnb1i 57 73
Night Blindness, Congenital Stationary, Type 1i 57
Night Blindness, Congenital Stationary, 1i 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of night blindness in infancy or childhood
intra- and interfamilial phenotypic variability
progressive reduction in erg responses (in some patients)
development of retinitis pigmentosa-like retinal degeneration in sixth decade of life (in 1 patient)


HPO:

31
night blindness, congenital stationary, type1i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618555
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755

Summaries for Night Blindness, Congenital Stationary, Type1i

UniProtKB/Swiss-Prot : 73 Night blindness, congenital stationary, 1I: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive.

MalaCards based summary : Night Blindness, Congenital Stationary, Type1i, is also known as csnb1i. An important gene associated with Night Blindness, Congenital Stationary, Type1i is GUCY2D (Guanylate Cyclase 2D, Retinal). Affiliated tissues include bone, and related phenotypes are nyctalopia and tritanomaly

OMIM® : 57 Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018). (618555) (Updated 05-Mar-2021)

Related Diseases for Night Blindness, Congenital Stationary, Type1i

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type1i

Human phenotypes related to Night Blindness, Congenital Stationary, Type1i:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 very rare (1%) HP:0000662
2 tritanomaly 31 very rare (1%) HP:0000552

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
night blindness
visual field defects (in some patients)
tritanopia (in some patients)
bone spicule-like pigmentation in retinal periphery (in older patient)
arteriolar narrowing (in older patient)
more

Clinical features from OMIM®:

618555 (Updated 05-Mar-2021)

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type1i

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type1i

Genetic Tests for Night Blindness, Congenital Stationary, Type1i

Anatomical Context for Night Blindness, Congenital Stationary, Type1i

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type1i:

40
Bone

Publications for Night Blindness, Congenital Stationary, Type1i

Articles related to Night Blindness, Congenital Stationary, Type1i:

# Title Authors PMID Year
1
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. 57 6
29559409 2018
2
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 6
29061346 2018
3
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. 6
23035049 2013
4
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 6
16505055 2006

Variations for Night Blindness, Congenital Stationary, Type1i

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type1i:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUCY2D GUCY2D, LEU911PHE Variation Pathogenic 689382
2 GUCY2D GUCY2D, ARG761TRP Variation Pathogenic 689383
3 GUCY2D NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) SNV Pathogenic 689384 rs1290420698 17:7911315-7911315 17:8007997-8007997
4 GUCY2D GUCY2D, ARG83CYS Variation Pathogenic 689385
5 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 17:7917236-7917236 17:8013918-8013918

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type1i:

73
# Symbol AA change Variation ID SNP ID
1 GUCY2D p.Arg768Trp VAR_067179 rs61750168

Expression for Night Blindness, Congenital Stationary, Type1i

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type1i.

Pathways for Night Blindness, Congenital Stationary, Type1i

GO Terms for Night Blindness, Congenital Stationary, Type1i

Sources for Night Blindness, Congenital Stationary, Type1i

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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