|
MCID: NGH024
MIFTS: 20
|
Night Blindness, Congenital Stationary, Type 1h
Categories:
Genetic diseases, Eye diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1h:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
stable visual parameters over long follow-up HPO:32Classifications: |
|
OMIM
:
57
Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (617024)
MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, is also known as csnb1h. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3). Affiliated tissues include eye, and related phenotypes are hypermetropia and photophobia Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, 1H: 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. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617024Human phenotypes related to Night Blindness, Congenital Stationary, Type 1h:32
|
|
|
MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1h:41
Eye
|
Genes related to Night Blindness, Congenital Stationary, Type 1h (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1h:6
|
|
Search
GEO
for disease gene expression data for Night Blindness, Congenital Stationary, Type 1h.
|
|
|
|