Night Blindness, Congenital Stationary, Autosomal Dominant 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 1 ⁵⁷ ⁷⁵ ¹³ ⁷³

Csnbad1 ⁵⁷ ¹² ⁷⁵

Congenital Stationary Night Blindness, Autosomal Dominant 1 ²⁹ ⁶

Rhodopsin-Related Congenital Stationary Night Blindness ¹² ⁷⁵

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 ⁴⁰

Congenital Stationary Night Blindness Autosomal Dominant 1 ¹²

Night Blindness, Congenital Stationary, Rhodopsin-Related ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 610445

Disease Ontology ¹² DOID:0110862

MedGen ⁴² C1864869

MeSH ⁴⁴ D009755

SNOMED-CT via HPO ⁶⁹ 12184005 193687000 232061009

UMLS ⁷³ C1864869

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Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : ⁷⁵ Night blindness, congenital stationary, autosomal dominant 1: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Autosomal Dominant 1, is also known as csnbad1. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 1 is RHO (Rhodopsin). Affiliated tissues include retina, bone and eye, and related phenotypes are decreased light- and dark-adapted electroretinogram amplitude and visual field defect

Disease Ontology : ¹² A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in mutations in the RHO gene on chromosome 3q22.1.

Description from OMIM: 610445

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Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2	Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a	Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c	Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e	Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g	Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness	Autosomal Recessive Congenital Stationary Night Blindness

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Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Clinical features from OMIM:

610445

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

³²

#	Description	HPO Source Accession
1	decreased light- and dark-adapted electroretinogram amplitude ³²	HP:0000654
2	visual field defect ³²	HP:0001123
3	congenital stationary night blindness ³²	HP:0007642
4	bone spicule pigmentation of the retina ³²	HP:0007737

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Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

#	Genetic test	Affiliating Genes
1	Congenital Stationary Night Blindness, Autosomal Dominant 1 ²⁹	RHO

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Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

⁴¹

Retina, Bone, Eye

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Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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Genes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RHO	Rhodopsin	Protein Coding	1328.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	8358437 8107847 9888392

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Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	RHO	p.Gly90Asp	VAR_004783	rs104893790
2	RHO	p.Thr94Ile	VAR_004784	rs104893796
3	RHO	p.Ala292Glu	VAR_004827	rs104893789

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RHO	NM_000539.3(RHO): c.875C> A (p.Ala292Glu)	single nucleotide variant	Pathogenic	rs104893789	GRCh37	Chromosome 3, 129251554: 129251554
2	RHO	NM_000539.3(RHO): c.875C> A (p.Ala292Glu)	single nucleotide variant	Pathogenic	rs104893789	GRCh38	Chromosome 3, 129532711: 129532711
3	RHO	NM_000539.3(RHO): c.269G> A (p.Gly90Asp)	single nucleotide variant	Pathogenic	rs104893790	GRCh37	Chromosome 3, 129247845: 129247845
4	RHO	NM_000539.3(RHO): c.269G> A (p.Gly90Asp)	single nucleotide variant	Pathogenic	rs104893790	GRCh38	Chromosome 3, 129529002: 129529002
5	RHO	NM_000539.3(RHO): c.281C> T (p.Thr94Ile)	single nucleotide variant	Pathogenic	rs104893796	GRCh37	Chromosome 3, 129247857: 129247857
6	RHO	NM_000539.3(RHO): c.281C> T (p.Thr94Ile)	single nucleotide variant	Pathogenic	rs104893796	GRCh38	Chromosome 3, 129529014: 129529014
7	RHO	NM_000539.3(RHO): c.491C> T (p.Ala164Val)	single nucleotide variant	Pathogenic	rs104893793	GRCh38	Chromosome 3, 129531005: 129531005
8	RHO	NM_000539.3(RHO): c.491C> T (p.Ala164Val)	single nucleotide variant	Pathogenic	rs104893793	GRCh37	Chromosome 3, 129249848: 129249848

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Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 1.

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Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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⁷⁶ Wikipedia