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CSNB1I
MCID: NGH031
MIFTS: 19
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Night Blindness, Congenital Stationary, Type1i (CSNB1I)
Categories:
Eye diseases, Genetic diseases
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MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type1i:
Name: Night Blindness, Congenital Stationary, Type1i
57
6
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:31Classifications: |
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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) |
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Human phenotypes related to Night Blindness, Congenital Stationary, Type1i:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618555 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type1i:40
Bone
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Articles related to Night Blindness, Congenital Stationary, Type1i:
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Genes related to Night Blindness, Congenital Stationary, Type1i (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type1i:6
UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type1i:73
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Search
GEO
for disease gene expression data for Night Blindness, Congenital Stationary, Type1i.
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