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

CSNB1H MCID: NGH024 MIFTS: 39	Night Blindness, Congenital Stationary, Type 1h (CSNB1H) Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1h

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1h:

Name: Night Blindness, Congenital Stationary, Type 1h ⁵⁶ ²⁹ ⁶

Csnb1h ⁵⁶ ¹² ⁷³

Congenital Stationary Night Blindness 1h ¹² ¹⁵

Congenital Stationary Night Blindness Type 1h ¹²

Night Blindness, Congenital Stationary, 1h ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
stable visual parameters over long follow-up

HPO:

³¹

night blindness, congenital stationary, type 1h:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110866

OMIM ⁵⁶ 617024

OMIM Phenotypic Series ⁵⁶ PS310500

MeSH ⁴³ D009755

MedGen ⁴¹ C4310758 CN237389

SNOMED-CT via HPO ⁶⁸ 246622003 258211005 38101003 more

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Summaries for Night Blindness, Congenital Stationary, Type 1h

OMIM : ⁵⁶ 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, also known as csnb1h, is related to mental retardation, autosomal dominant 42 and progressive familial heart block, type ib. An important gene associated with Night Blindness, Congenital Stationary, Type 1h is GNB3 (G Protein Subunit Beta 3), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. 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 : ⁷³ 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.

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Related Diseases for Night Blindness, Congenital Stationary, Type 1h

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, Type 1h via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)

#	Related Disease	Score	Top Affiliating Genes
1	mental retardation, autosomal dominant 42	10.3	GNB4 GNB2 GNB1
2	progressive familial heart block, type ib	10.3	GNB5 GNB2
3	amphetamine abuse	9.8	DRD5 DRD4
4	long qt syndrome 1	9.8	KCNJ6 KCNJ5 KCNJ3
5	ventricular fibrillation, paroxysmal familial, 1	9.8	KNG1 KCNJ5
6	polysubstance abuse	9.7	DRD3 DRD2
7	early-onset schizophrenia	9.7	DRD2 DRD1
8	tardive dyskinesia	9.7	DRD3 DRD2
9	cyclothymic disorder	9.4	DRD4 DRD2
10	focal dystonia	9.4	DRD5 DRD2 DRD1
11	neuroleptic malignant syndrome	9.4	DRD3 DRD2 DRD1
12	cocaine abuse	9.4	DRD3 DRD2 DRD1
13	kleptomania	9.4	DRD4 DRD3 DRD2
14	cocaine dependence	9.3	DRD3 DRD2 DRD1
15	trichotillomania	9.3	DRD4 DRD3 DRD2
16	drug dependence	9.3	DRD3 DRD2 DRD1
17	sexual disorder	9.3	DRD4 DRD3 DRD2
18	conduct disorder	9.3	DRD5 DRD4 DRD2
19	heroin dependence	9.3	DRD4 DRD2 DRD1
20	personality disorder	9.3	DRD4 DRD3 DRD2
21	alcohol use disorder	9.2	DRD3 DRD2 DRD1
22	schizoaffective disorder	9.2	DRD4 DRD3 DRD2
23	cannabis abuse	9.2	DRD4 DRD2
24	bruxism	9.1	DRD5 DRD3 DRD2 DRD1
25	opiate dependence	9.0	DRD4 DRD3 DRD2 DRD1
26	bipolar i disorder	9.0	DRD4 DRD3 DRD2 DRD1
27	mental depression	9.0	DRD4 DRD3 DRD2 DRD1
28	obsessive-compulsive disorder	8.9	DRD4 DRD3 DRD2 DRD1
29	mood disorder	8.8	GNB3 DRD4 DRD3 DRD2 DRD1
30	major depressive disorder	8.8	GNB3 DRD4 DRD3 DRD2 DRD1
31	oculogyric crisis	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
32	drug psychosis	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
33	drug-induced mental disorder	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
34	chronic tic disorder	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
35	tic disorder	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
36	substance-induced psychosis	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
37	delusional disorder	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
38	schizophreniform disorder	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
39	opioid abuse	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
40	lingual-facial-buccal dyskinesia	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
41	impulse control disorder	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
42	pathological gambling	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
43	choreatic disease	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
44	gastroparesis	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
45	migraine without aura	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
46	movement disease	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
47	substance abuse	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
48	substance dependence	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
49	gilles de la tourette syndrome	8.7	DRD5 DRD4 DRD3 DRD2 DRD1
50	tobacco addiction	8.7	DRD5 DRD4 DRD3 DRD2 DRD1

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

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Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1h

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1h:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	hypermetropia ³¹	occasional (7.5%)	HP:0000540
2	photophobia ³¹		HP:0000613
3	nyctalopia ³¹		HP:0000662
4	mild myopia ³¹		HP:0025573

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hyperopia (in some patients)
night blindness (childhood onset)
photophobia (in older patients)
color vision deficits (in older patients)
mild myopia (in 1 patient)
more

Clinical features from OMIM:

617024

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	10.11	PLCB2
2	Decreased viability	GR00221-A-4	10.11	PLCB2
3	Decreased viability	GR00249-S	10.11	GNB5
4	Decreased viability	GR00301-A	10.11	PLCB2
5	Decreased viability	GR00381-A-1	10.11	KCNJ3 KCNJ5
6	Decreased viability	GR00381-A-3	10.11	KCNJ5
7	Decreased viability	GR00386-A-1	10.11	DRD1 GNB1 GNB3 GNB4 RGS6
8	Decreased viability	GR00402-S-2	10.11	GNB4 GNB5 KCNJ3 KCNJ5 RGS6 SUCLG2
9	shRNA abundance <= 50%	GR00343-S	9.17	DRD1 DRD2 DRD4 GNB3 KCNJ5 KCNJ6
10	Increased the percentage of infected cells	GR00402-S-1	8.65	GNB2

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 1h:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	DRD1 DRD2 DRD3 DRD4 DRD5 GNB1
2	cardiovascular system	MP:0005385	9.36	DRD1 DRD2 DRD3 DRD5 GNB1 GNB2

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Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1h

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1h

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Genetic Tests for Night Blindness, Congenital Stationary, Type 1h

Genetic tests related to Night Blindness, Congenital Stationary, Type 1h:

#	Genetic test	Affiliating Genes
1	Night Blindness, Congenital Stationary, Type 1h ²⁹	GNB3

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Anatomical Context for Night Blindness, Congenital Stationary, Type 1h

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Publications for Night Blindness, Congenital Stationary, Type 1h

Articles related to Night Blindness, Congenital Stationary, Type 1h:

#	Title	Authors	PMID	Year
1	Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ⁶ ⁵⁶	Vincent A...Heon E	27063057	2016

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Genes for Night Blindness, Congenital Stationary, Type 1h

Genes related to Night Blindness, Congenital Stationary, Type 1h (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GNB3	G Protein Subunit Beta 3	Protein Coding	1015.08	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	27063057
2	CDCA3	Cell Division Cycle Associated 3	Protein Coding	8.01	GeneCards inferred via : Variants (show sections)
3	GNB2	G Protein Subunit Beta 2	Protein Coding	6.01	DISEASES inferred ¹⁵
4	GNB4	G Protein Subunit Beta 4	Protein Coding	6	DISEASES inferred ¹⁵
5	RGS6	Regulator Of G Protein Signaling 6	Protein Coding	5.74	DISEASES inferred ¹⁵
6	GNB1	G Protein Subunit Beta 1	Protein Coding	5.58	DISEASES inferred ¹⁵
7	GNB5	G Protein Subunit Beta 5	Protein Coding	5.47	DISEASES inferred ¹⁵
8	PLCB2	Phospholipase C Beta 2	Protein Coding	5.38	DISEASES inferred ¹⁵
9	KCNJ3	Potassium Inwardly Rectifying Channel Subfamily J Member 3	Protein Coding	5.32	DISEASES inferred ¹⁵
10	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	5.14	DISEASES inferred ¹⁵
11	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	4.93	DISEASES inferred ¹⁵
12	SUCLG2	Succinate-CoA Ligase GDP-Forming Subunit Beta	Protein Coding	4.89	DISEASES inferred ¹⁵
13	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	4.34	DISEASES inferred ¹⁵
14	DRD5	Dopamine Receptor D5	Protein Coding	4.08	DISEASES inferred ¹⁵
15	DRD3	Dopamine Receptor D3	Protein Coding	4.04	DISEASES inferred ¹⁵
16	DRD1	Dopamine Receptor D1	Protein Coding	4.01	DISEASES inferred ¹⁵
17	DRD4	Dopamine Receptor D4	Protein Coding	4.01	DISEASES inferred ¹⁵
18	DRD2	Dopamine Receptor D2	Protein Coding	3.77	DISEASES inferred ¹⁵
19	KNG1	Kininogen 1	Protein Coding	3.71	DISEASES inferred ¹⁵

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Variations for Night Blindness, Congenital Stationary, Type 1h

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1h:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GNB3	NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)	SNV	Pathogenic	242984	rs879253773	12:6956056-6956056	12:6846892-6846892
2	GNB3	NM_002075.4(GNB3):c.170_172del (p.Lys57del)	deletion	Pathogenic	242985	rs879253774	12:6952206-6952208	12:6843042-6843044
3	GNB3	NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)	SNV	Pathogenic	242986	rs140263599	12:6952237-6952237	12:6843073-6843073

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Expression for Night Blindness, Congenital Stationary, Type 1h

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1h.

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Pathways for Night Blindness, Congenital Stationary, Type 1h

Pathways related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

(show top 50) (show all 70)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	14.23	RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
2	Peptide ligand-binding receptors ⁶⁵ Show member pathways Class A/1 (Rhodopsin-like receptors) ⁶⁵ Defective AVP causes neurohypophyseal diabetes insipidus (NDI) ⁶⁵ Formyl peptide receptors bind formyl peptides and many other ligands ⁶⁵ G alpha (i) signalling events ⁶⁵ GPCR ligand binding ⁶⁵ GPCRs, Class A Rhodopsin-like ¹ Neuroactive ligand-receptor interaction ³⁶ Orexin and neuropeptides FF and QRFP bind to their respective receptors ⁶⁵ Peptide GPCRs ¹ Tachykinin receptors bind tachykinins ⁶⁵ Vasopressin-like receptors ⁶⁵	13.64	RGS6 KNG1 GNB5 GNB4 GNB3 GNB2
3	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	13.27	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
4	IL-2 Pathway ⁶³ Show member pathways ErbB Family Pathway ⁶³ ErbB2-ErbB3 Heterodimers ⁶³ ErbB4 Pathway ⁶³ Growth Hormone Signaling ⁶³ HMGB1 Pathway ⁶³ IL-4 Pathway ⁶³ LPS Stimulated MAPK Signaling ⁶³ PACAP Signaling ⁶³ PI3K Signaling in B-Lymphocyte ⁶³ Prolactin Signaling ⁶³ Thrombopoietin Pathway ⁶³ TREM1 Pathway ⁶³ UVC-Induced MAPK Signaling ⁶³	13.21	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
5	DAG and IP3 signaling ⁶⁵ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²² Ca-dependent events ⁶⁵ Calmodulin induced events ⁶⁵ CaM pathway ⁶⁵ Cam-PDE 1 activation ⁶⁵ CREB phosphorylation through the activation of Adenylate Cyclase ⁶⁵ Development Beta-adrenergic receptors signaling via cAMP ²² Development Role of Activin A in cell differentiation and proliferation ²² EGFR interacts with phospholipase C-gamma ⁶⁵ G Protein Signaling Pathways ¹ G-protein mediated events ⁶⁵ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²² Neurophysiological process PGE2-induced pain processing ²² Opioid Signalling ⁶⁵ PKA activation ⁶⁵ PKA activation in glucagon signalling ⁶⁵ PKA-mediated phosphorylation of CREB ⁶⁵ PLC beta mediated events ⁶⁵ PLC-gamma1 signalling ⁶⁵ Signal transduction Calcium signaling ²²	13.16	PLCB2 KCNJ3 GNB5 GNB4 GNB3 GNB2
6	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	13.1	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
7	TNFR1 Pathway ⁶³ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶³ Apoptotic Pathways Triggered By HIV1 ⁶³ Death Receptor Signaling ⁶⁶ DR3 Signaling ⁶³ Fas Signaling ⁶³ GITR Pathway ⁶³ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁵ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶³ TNF Signaling ⁶⁶ TRAIL Pathway ⁶³ TWEAK Pathway ⁶³	13.09	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
8	Sweet Taste Signaling ⁶³ Show member pathways Bitter Taste Signaling ⁶³ Cellular Effects of Sildenafil ⁶³ Melatonin Signaling ⁶³ Sperm Motility ⁶³	13.09	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
9	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	13.08	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
10	fMLP Pathway ⁶³ Show member pathways Alpha-Adrenergic Signaling ⁶³ CCR3 Pathway in Eosinophils ⁶³ CXCR4 Pathway ⁶³ Huntington's Disease Pathway ⁶³ Internalin Pathway ⁶³ Signal transduction Activation of PKC via G-Protein coupled receptor ²² VEGF and S-1P Signaling ⁶³	13.05	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
11	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	13	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
12	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.98	GNB5 GNB4 GNB3 GNB2 GNB1
13	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	12.98	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
14	Actin Nucleation by ARP-WASP Complex ⁶³ Show member pathways Actin Nucleation and Branching ⁶³ CDC42 Pathway ⁶³ RhoA Pathway ⁶³	12.96	GNB5 GNB4 GNB3 GNB2 GNB1
15	Signaling by Wnt ⁶⁵ Show member pathways TCF dependent signaling in response to WNT ⁶⁵	12.95	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
16	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.94	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
17	NFAT and Cardiac Hypertrophy ⁶³ Show member pathways IGF1R Signaling ⁶³ Signaling Involved in Cardiac Hypertrophy ⁶³	12.93	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
18	Pathways in cancer ³⁶	12.93	PLCB2 KNG1 GNB5 GNB4 GNB3 GNB2
19	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.92	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
20	p75 NTR receptor-mediated signalling ⁶⁵ Show member pathways Axonal growth inhibition (RHOA activation) ⁶⁵ Axonal growth stimulation ⁶⁵ Cell death signalling via NRAGE, NRIF and NADE ⁶⁵ G alpha (12/13) signalling events ⁶⁵ NADE modulates death signalling ⁶⁵ NF-kB is activated and signals survival ⁶⁵ NRAGE signals death through JNK ⁶⁵ NRIF signals cell death from the nucleus ⁶⁵ p75NTR negatively regulates cell cycle via SC1 ⁶⁵ p75NTR recruits signalling complexes ⁶⁵ p75NTR regulates axonogenesis ⁶⁵ p75NTR signals via NF-kB ⁶⁵ Regulated proteolysis of p75NTR ⁶⁵ Rho GTPase cycle ⁶⁵	12.9	GNB5 GNB4 GNB3 GNB2 GNB1
21	Ras signaling pathway ³⁶ Show member pathways Rap1 signaling pathway ³⁶	12.84	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
22	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.76	RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
23	Beta-Adrenergic Signaling ⁶³ Show member pathways CDK5 Pathway ⁶³ Erythropoietin Pathway ⁶³ Insulin Receptor Pathway ⁶³	12.72	GNB5 GNB4 GNB3 GNB2 GNB1 DRD5
24	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.68	GNB5 GNB4 GNB3 GNB2 GNB1
25	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	12.68	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
26	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Apoptosis and survival BAD phosphorylation ²² BAD Phosphorylation ⁶³ Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²²	12.67	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
27	ADP signalling through P2Y purinoceptor 12 ⁶⁵ Show member pathways Adrenaline,noradrenaline inhibits insulin secretion ⁶⁵ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁵ G alpha (z) signalling events ⁶⁵ G-protein activation ⁶⁵ Signal transduction cAMP signaling ²²	12.65	RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
28	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	12.65	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
29	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.57	RGS6 KCNJ5 KCNJ3 GNB5 GNB4 GNB3
30	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.55	GNB5 GNB4 GNB3 GNB2 GNB1
31	WNT Signaling ⁶³	12.54	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
32	Presynaptic function of Kainate receptors ⁶⁵ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁵ Activation of Kainate Receptors upon glutamate binding ⁶⁵ Activation of Na-permeable Kainate Receptors ⁶⁵ Calcitonin-like ligand receptors ⁶⁵ Class B/2 (Secretin family receptors) ⁶⁵ G beta-gamma signalling through PLC beta ⁶⁵ Glucagon-type ligand receptors ⁶⁵ G-Protein Signaling through Tubby Protein ⁶³ Ionotropic activity of Kainate Receptors ⁶⁵	12.53	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
33	Aquaporin-mediated transport ⁶⁵ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² Glucagon signaling in metabolic regulation ⁶⁵ Glucagon-like Peptide-1 (GLP1) regulates insulin secretion ⁶⁵ Passive transport by Aquaporins ⁶⁵ Transport of glycerol from adipocytes to the liver by Aquaporins ⁶⁵ Vasopressin regulates renal water homeostasis via Aquaporins ⁶⁵	12.51	GNB5 GNB4 GNB3 GNB2 GNB1
34	EphB-EphrinB Signaling ⁶³ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²² Ephrin-Eph Signaling ⁶³	12.51	TUBB4A GNB5 GNB4 GNB3 GNB2 GNB1
35	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.5	PLCB2 KCNJ6 KCNJ5 KCNJ3
36	G-protein signaling G-Protein alpha-i signaling cascades ²² Show member pathways Development Beta-adrenergic receptors regulation of ERK ²² G-protein signaling G-Protein alpha-s signaling cascades ²² G-protein signaling G-Protein beta/gamma signaling cascades ²²	12.48	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
37	Integration of energy metabolism ⁶⁵ Show member pathways Acetylcholine regulates insulin secretion ⁶⁵ AMPK inhibits chREBP transcriptional activation activity ⁶⁵ ChREBP activates metabolic gene expression ⁶⁵ PKA-mediated phosphorylation of key metabolic factors ⁶⁵ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁵ Regulation of insulin secretion ⁶⁵	12.47	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
38	Chaperonin-mediated protein folding ⁶⁵ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁵ Protein folding ⁶⁵	12.47	TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
39	GABAergic synapse ³⁶ Show member pathways Morphine addiction ³⁶ Retrograde endocannabinoid signaling ³⁶	12.47	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
40	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	12.45	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
41	Development A3 receptor signaling ²² Show member pathways Development A1 receptor signaling ²² G-protein signaling G-Protein alpha-q signaling cascades ²²	12.42	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
42	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.39	GNB5 GNB4 GNB3 GNB2 GNB1
43	Platelet homeostasis ⁶⁵ Show member pathways Elevation of cytosolic Ca2+ levels ⁶⁵ Platelet calcium homeostasis ⁶⁵ Platelet sensitization by LDL ⁶⁵ Prostacyclin signalling through prostacyclin receptor ⁶⁵ Reduction of cytosolic Ca++ levels ⁶⁵	12.36	GNB5 GNB4 GNB3 GNB2 GNB1
44	Circadian rythm related genes ¹	12.35	DRD4 DRD3 DRD2 DRD1
45	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	12.31	GNB5 GNB4 GNB3 GNB2 GNB1
46	Colorectal Cancer Metastasis ⁶³	12.29	GNB5 GNB4 GNB3 GNB2 GNB1
47	ADP signalling through P2Y purinoceptor 1 ⁶⁵ Show member pathways Development Angiotensin signaling via beta-Arrestin ²² Signal amplification ⁶⁵ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁵ Thromboxane signalling through TP receptor ⁶⁵	12.27	GNB5 GNB4 GNB3 GNB2 GNB1
48	G beta-gamma signalling through PI3Kgamma ⁶⁵ Show member pathways G-protein beta-gamma signalling ⁶⁵ GPVI-mediated activation cascade ⁶⁵	12.26	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
49	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	12.24	KCNJ6 KCNJ5 KCNJ3 GNB3 GNB2 GNB1
50	Apelin signaling pathway ³⁶	12.18	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1

Sources

GO Terms for Night Blindness, Congenital Stationary, Type 1h

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	10.03	SUCLG2 RGS6 KNG1 KCNJ6 KCNJ5 KCNJ3
2	dendrite	GO:0030425	9.8	GNB3 GNB1 DRD4 DRD2 DRD1
3	cell body	GO:0044297	9.65	GNB3 GNB2 GNB1
4	voltage-gated potassium channel complex	GO:0008076	9.63	KCNJ6 KCNJ5 KCNJ3
5	GABA-ergic synapse	GO:0098982	9.61	DRD3 DRD2 DRD1
6	cell	GO:0005623	9.61	PLCB2 KNG1 GNB3 GNB1 DRD5 DRD4
7	integral component of presynaptic membrane	GO:0099056	9.54	KCNJ3 DRD2 DRD1
8	9+0 non-motile cilium	GO:0097731	9.51	DRD5 DRD1
9	ciliary membrane	GO:0060170	9.5	DRD5 DRD2 DRD1
10	dopaminergic synapse	GO:0098691	9.49	DRD3 DRD2
11	non-motile cilium	GO:0097730	9.43	DRD5 DRD2 DRD1
12	heterotrimeric G-protein complex	GO:0005834	9.02	GNB5 GNB4 GNB3 GNB2 GNB1

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

(show top 50) (show all 54)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.29	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
2	cell-cell signaling	GO:0007267	9.98	DRD5 DRD3 DRD2 DRD1
3	protein folding	GO:0006457	9.97	GNB5 GNB4 GNB3 GNB2 GNB1
4	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	GO:0007188	9.9	DRD5 DRD3 DRD2 DRD1
5	cellular calcium ion homeostasis	GO:0006874	9.88	DRD5 DRD4 DRD3
6	locomotory behavior	GO:0007626	9.87	DRD3 DRD2 DRD1
7	response to cocaine	GO:0042220	9.86	DRD5 DRD3 DRD2 DRD1
8	visual learning	GO:0008542	9.83	DRD3 DRD2 DRD1
9	potassium ion import across plasma membrane	GO:1990573	9.83	KCNJ6 KCNJ5 KCNJ3
10	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	GO:0051482	9.82	DRD3 DRD2 DRD1
11	adenylate cyclase-activating adrenergic receptor signaling pathway	GO:0071880	9.81	DRD5 DRD3 DRD2 DRD1
12	associative learning	GO:0008306	9.8	DRD5 DRD2 DRD1
13	negative regulation of blood pressure	GO:0045776	9.8	DRD5 DRD3 DRD2
14	negative regulation of protein secretion	GO:0050709	9.79	DRD4 DRD3 DRD2
15	arachidonic acid secretion	GO:0050482	9.78	DRD4 DRD3 DRD2
16	prepulse inhibition	GO:0060134	9.77	DRD3 DRD2 DRD1
17	G protein-coupled receptor signaling pathway	GO:0007186	9.77	RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
18	behavioral response to ethanol	GO:0048149	9.76	DRD4 DRD3 DRD2
19	behavioral response to cocaine	GO:0048148	9.76	DRD4 DRD3 DRD2 DRD1
20	adenylate cyclase-inhibiting dopamine receptor signaling pathway	GO:0007195	9.74	DRD4 DRD3 DRD2
21	negative regulation of voltage-gated calcium channel activity	GO:1901386	9.73	GNB5 DRD4 DRD3 DRD2
22	vasodilation	GO:0042311	9.72	KNG1 DRD1
23	transmission of nerve impulse	GO:0019226	9.71	DRD5 DRD1
24	negative regulation of cytosolic calcium ion concentration	GO:0051481	9.71	DRD3 DRD2
25	long-term synaptic depression	GO:0060292	9.71	DRD5 DRD1
26	negative regulation of synaptic transmission, glutamatergic	GO:0051967	9.71	DRD3 DRD2
27	cellular response to catecholamine stimulus	GO:0071870	9.71	GNB1 DRD5 DRD1
28	dopamine metabolic process	GO:0042417	9.71	DRD4 DRD3 DRD2 DRD1
29	positive regulation of renal sodium excretion	GO:0035815	9.7	DRD3 DRD2
30	grooming behavior	GO:0007625	9.7	DRD2 DRD1
31	G protein-coupled receptor internalization	GO:0002031	9.7	DRD3 DRD2
32	regulation of dopamine uptake involved in synaptic transmission	GO:0051584	9.7	DRD3 DRD2 DRD1
33	striatum development	GO:0021756	9.69	DRD2 DRD1
34	regulation of postsynaptic neurotransmitter receptor internalization	GO:0099149	9.69	DRD4 DRD3
35	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.69	KCNJ5 KCNJ3
36	regulation of potassium ion transport	GO:0043266	9.68	DRD3 DRD2
37	regulation of dopamine metabolic process	GO:0042053	9.68	DRD4 DRD1
38	peristalsis	GO:0030432	9.68	DRD2 DRD1
39	mating behavior	GO:0007617	9.67	DRD5 DRD1
40	cerebral cortex GABAergic interneuron migration	GO:0021853	9.67	DRD2 DRD1
41	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.67	KCNJ5 KCNJ3
42	regulation of locomotion involved in locomotory behavior	GO:0090325	9.67	GNB3 DRD3 DRD2
43	phospholipase C-activating dopamine receptor signaling pathway	GO:0060158	9.67	DRD5 DRD3 DRD2 DRD1
44	regulation of neurotransmitter uptake	GO:0051580	9.66	DRD3 DRD2
45	negative regulation of dopamine receptor signaling pathway	GO:0060160	9.65	DRD3 DRD2
46	response to histamine	GO:0034776	9.65	DRD4 DRD3 DRD2
47	response to amphetamine	GO:0001975	9.65	DRD5 DRD4 DRD3 DRD2 DRD1
48	ventricular cardiac muscle cell membrane repolarization	GO:0099625	9.64	KCNJ5 KCNJ3
49	positive regulation of dopamine uptake involved in synaptic transmission	GO:0051586	9.64	DRD4 DRD2
50	acid secretion	GO:0046717	9.63	DRD3 DRD2

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.45	TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6
2	protein-containing complex binding	GO:0044877	9.92	SUCLG2 GNB4 GNB2 GNB1 DRD2
3	GTPase activity	GO:0003924	9.88	TUBB4A RGS6 GNB5 GNB3 GNB2 GNB1
4	drug binding	GO:0008144	9.71	DRD4 DRD3 DRD2
5	GTPase binding	GO:0051020	9.65	GNB3 GNB2 GNB1
6	inward rectifier potassium channel activity	GO:0005242	9.61	KCNJ6 KCNJ5 KCNJ3
7	adrenergic receptor activity	GO:0004935	9.56	DRD5 DRD3 DRD2 DRD1
8	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.55	KCNJ5 KCNJ3
9	dopamine binding	GO:0035240	9.55	DRD5 DRD4 DRD3 DRD2 DRD1
10	dopamine neurotransmitter receptor activity, coupled via Gi/Go	GO:0001591	9.54	DRD4 DRD3 DRD2
11	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.51	KCNJ5 KCNJ3
12	G-protein activated inward rectifier potassium channel activity	GO:0015467	9.5	KCNJ6 KCNJ5 KCNJ3
13	dopamine neurotransmitter receptor activity, coupled via Gs	GO:0001588	9.46	DRD5 DRD1
14	G-protein gamma-subunit binding	GO:0031682	9.35	GNB5 GNB4 GNB3 GNB2 GNB1
15	dopamine neurotransmitter receptor activity	GO:0004952	9.02	DRD5 DRD4 DRD3 DRD2 DRD1

Sources

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Night Blindness, Congenital Stationary, Type 1h (CSNB1H)

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1h

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1h:

Characteristics:

OMIM:

HPO:

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External Ids:

Summaries for Night Blindness, Congenital Stationary, Type 1h

Related Diseases for Night Blindness, Congenital Stationary, Type 1h

Diseases in the Congenital Stationary Night Blindness family:

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

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

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1h

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1h:

Symptoms via clinical synopsis from OMIM:

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GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

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Genes related to Night Blindness, Congenital Stationary, Type 1h (1 elite genes):

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Expression for Night Blindness, Congenital Stationary, Type 1h

Pathways for Night Blindness, Congenital Stationary, Type 1h

Pathways related to Night Blindness, Congenital Stationary, Type 1h according to GeneCards Suite gene sharing:

GO Terms for Night Blindness, Congenital Stationary, Type 1h

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

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

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

Sources for Night Blindness, Congenital Stationary, Type 1h