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 ⁵⁶ ⁷³ ¹³ ⁷¹

Csnbad1 ⁵⁶ ¹² ⁷³

Congenital Stationary Night Blindness, Autosomal Dominant 1 ²⁹ ⁶

Congenital Stationary Night Blindness Autosomal Dominant 1 ¹² ¹⁵

Rhodopsin-Related Congenital Stationary Night Blindness ¹² ⁷³

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 ³⁹

Night Blindness, Congenital Stationary, Rhodopsin-Related ⁵⁶

Characteristics:

HPO:

³¹

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 ⁵⁶ 610445

OMIM Phenotypic Series ⁵⁶ PS310500

MeSH ⁴³ D009755

MedGen ⁴¹ C1864869

SNOMED-CT via HPO ⁶⁸ 12184005 193687000 232061009 more

UMLS ⁷¹ C1864869

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Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : ⁷³ 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, also known as csnbad1, is related to autosomal dominant congenital stationary night blindness and retinitis pigmentosa 4. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 1 is RHO (Rhodopsin). Affiliated tissues include eye, bone 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

Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant congenital stationary night blindness	10.2	RHO GNAT1
2	retinitis pigmentosa 4	10.1	RHO GNAT1
3	enhanced s-cone syndrome	10.1	RHO GNAT1
4	abnormal threshold of rods	10.0	GNAT1 CACNA1F
5	retinoschisis 1, x-linked, juvenile	10.0	RHO CACNA1F
6	pathologic nystagmus	9.9	RHO CACNA1F
7	night blindness	9.9	RHO GNAT1 CACNA1F
8	oguchi disease	9.8	RHO GNAT1 CACNA1F
9	night blindness, congenital stationary, type 1a	9.8	RHO GNAT1 CACNA1F
10	fundus albipunctatus	9.8	RHO GNAT1 CACNA1F
11	congenital stationary night blindness	9.8	RHO GNAT1 CACNA1F
12	retinitis pigmentosa 35	9.7	SEMA4A LSM8
13	myopia	9.7	RHO GNAT1 CACNA1F
14	achromatopsia	9.7	RHO CACNA1F
15	retinal degeneration	9.4	SEMA4A RHO GNAT1
16	retinal disease	9.2	SEMA4A RHO GNAT1 CACNA1F
17	cone-rod dystrophy 2	9.2	SEMA4A RHO CACNA1F
18	fundus dystrophy	8.8	SEMA4A RHO PRPF4 GNAT1 CACNA1F
19	retinitis pigmentosa	8.5	SEMA4A RHO PRPF4 LSM8 GNAT1 CACNA1F

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

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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:

³¹

#	Description	HPO Source Accession
1	visual field defect ³¹	HP:0001123
2	congenital stationary night blindness ³¹	HP:0007642
3	bone spicule pigmentation of the retina ³¹	HP:0007737
4	decreased light- and dark-adapted electroretinogram amplitude ³¹	HP:0000654

Clinical features from OMIM:

610445

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation	MP:0001186	8.8	GNAT1 RHO SEMA4A

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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:

⁴⁰

Eye, Bone, Retina

Sources

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. ⁵⁶ ⁶	al-Jandal N...Kenna PF	9888392	1999
2	Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. ⁵⁶ ⁶	Dryja TP...Oprian DD	8358437	1993
3	Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. ⁵⁶	Sieving PA...Alpern M	7846071	1995
4	Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. ⁶	Rao VR...Oprian DD	8107847	1994
5	A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT. ⁵⁶	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	1324.36	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	8107847 8358437 9888392
2	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	6.6	DISEASES inferred ¹⁵
3	LSM8	LSM8 Homolog, U6 Small Nuclear RNA Associated	Protein Coding	5.91	DISEASES inferred ¹⁵
4	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	5.87	DISEASES inferred ¹⁵
5	LCN8	Lipocalin 8	Protein Coding	5.67	DISEASES inferred ¹⁵
6	PNISR	PNN Interacting Serine And Arginine Rich Protein	Protein Coding	5.6	DISEASES inferred ¹⁵
7	SEMA4A	Semaphorin 4A	Protein Coding	5.49	DISEASES inferred ¹⁵
8	PRPF4	Pre-MRNA Processing Factor 4	Protein Coding	5.47	DISEASES inferred ¹⁵

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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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RHO	NM_000539.3(RHO):c.68C>A (p.Pro23His)	SNV	Pathogenic	13013	rs104893768	3:129247644-129247644	3:129528801-129528801
2	RHO	NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	SNV	Pathogenic	13044	rs104893789	3:129251554-129251554	3:129532711-129532711
3	RHO	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	SNV	Pathogenic	13045	rs104893790	3:129247845-129247845	3:129529002-129529002
4	RHO	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	SNV	Pathogenic	13054	rs104893796	3:129247857-129247857	3:129529014-129529014
5	RHO	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	SNV	Pathogenic	417867	rs104893793	3:129249848-129249848	3:129531005-129531005

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

⁷³

#	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

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	U2-type precatalytic spliceosome	GO:0071005	9.37	PRPF4 LSM8
2	photoreceptor inner segment	GO:0001917	9.32	RHO GNAT1
3	U4/U6 x U5 tri-snRNP complex	GO:0046540	9.26	PRPF4 LSM8
4	photoreceptor disc membrane	GO:0097381	9.16	RHO GNAT1
5	photoreceptor outer segment membrane	GO:0042622	8.96	RHO GNAT1
6	photoreceptor outer segment	GO:0001750	8.8	RHO GNAT1 CACNA1F

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	retina development in camera-type eye	GO:0060041	9.43	RHO GNAT1
2	visual perception	GO:0007601	9.43	RHO GNAT1 CACNA1F
3	phototransduction	GO:0007602	9.4	RHO GNAT1
4	response to light stimulus	GO:0009416	9.37	RHO GNAT1
5	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.32	RHO GNAT1
6	detection of light stimulus involved in visual perception	GO:0050908	9.16	GNAT1 CACNA1F
7	rhodopsin mediated signaling pathway	GO:0016056	8.96	RHO GNAT1
8	phototransduction, visible light	GO:0007603	8.62	RHO GNAT1

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	U6 snRNA binding	GO:0017070	8.62	PRPF4 LSM8

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Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

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:

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

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

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1