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 ⁷⁴ ¹³ ⁷²

Csnbad1 ⁵⁷ ¹² ⁷⁴

Congenital Stationary Night Blindness, Autosomal Dominant 1 ²⁹ ⁶

Rhodopsin-Related Congenital Stationary Night Blindness ¹² ⁷⁴

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

Congenital Stationary Night Blindness Autosomal Dominant 1 ¹²

Night Blindness, Congenital Stationary, Rhodopsin-Related ⁵⁷

Characteristics:

HPO:

³²

night blindness, congenital stationary, autosomal dominant 1:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110862

OMIM ⁵⁷ 610445 PS310500

MeSH ⁴⁴ D009755

MedGen ⁴² C1864869

UMLS ⁷² C1864869

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Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : ⁷⁴ 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 bone, eye and retina, and related phenotypes are visual field defect and congenital stationary night blindness

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.

More information from OMIM: 610445 PS310500

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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

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

³²

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

Clinical features from OMIM:

610445

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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

Bone, Eye, Retina

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Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

#	Title	Authors	PMID	Year
1	A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. ⁸ ⁷¹	al-Jandal N...Kenna PF	9888392	1999
2	Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. ⁸ ⁷¹	Dryja TP...Oprian DD	8358437	1993
3	Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. ⁸	Sieving PA...Alpern M	7846071	1995
4	Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. ⁷¹	Rao VR...Oprian DD	8107847	1994
5	A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT. ⁸	FRANCOIS J...DEROUCK A	14275464	1965

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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	1328.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	8107847 8358437 9888392

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Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	RHO	NM_000539.3(RHO): c.491C> T (p.Ala164Val)	single nucleotide variant	Pathogenic	rs104893793	3:129249848-129249848	3:129531005-129531005
2	RHO	NM_000539.3(RHO): c.68C> A (p.Pro23His)	single nucleotide variant	Pathogenic	rs104893768	3:129247644-129247644	3:129528801-129528801
3	RHO	NM_000539.3(RHO): c.875C> A (p.Ala292Glu)	single nucleotide variant	Pathogenic	rs104893789	3:129251554-129251554	3:129532711-129532711
4	RHO	NM_000539.3(RHO): c.269G> A (p.Gly90Asp)	single nucleotide variant	Pathogenic	rs104893790	3:129247845-129247845	3:129529002-129529002
5	RHO	NM_000539.3(RHO): c.281C> T (p.Thr94Ile)	single nucleotide variant	Pathogenic	rs104893796	3:129247857-129247857	3:129529014-129529014

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

⁷⁴

#	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

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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

¹ BioSystems

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⁴⁸ NCBI Bookshelf

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Night Blindness, Congenital Stationary, Autosomal Dominant 1 (CSNBAD1)

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

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

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

Diseases in the Congenital Stationary Night Blindness family:

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

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

Clinical features from OMIM:

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

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

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

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

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

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Genes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

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

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1