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

CSNB1H MCID: NGH024 MIFTS: 36	Night Blindness, Congenital Stationary, Type 1h (CSNB1H) Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues 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 ⁵⁷ ²⁹ ⁶

Csnb1h ⁵⁷ ¹² ⁷²

Congenital Stationary Night Blindness 1h ¹² ¹⁵

Congenital Stationary Night Blindness Type 1h ¹²

Night Blindness, Congenital Stationary, 1h ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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® ⁵⁷ 617024

OMIM Phenotypic Series ⁵⁷ PS310500

MeSH ⁴⁴ 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® : 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) (Updated 20-May-2021)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1h, also known as csnb1h, is related to autosomal recessive congenital stationary night blindness 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 Metabolism of proteins and Peptide ligand-binding receptors. Affiliated tissues include eye and heart, 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 : ⁷² 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:

#	Related Disease	Score	Top Affiliating Genes
1	autosomal recessive congenital stationary night blindness	10.2	GNB3 CDCA3
2	progressive familial heart block, type ib	10.1	GNB5 GNB2
3	mental retardation, autosomal dominant 42	10.1	GNB2 GNB1
4	congenital stationary night blindness	10.0	GNB5 GNB3 CDCA3
5	prolonged electroretinal response suppression	9.9	RGS6 GNB5
6	ventricular fibrillation, paroxysmal familial, 1	9.8	KNG1 KCNJ5
7	myocardial stunning	9.7	KNG1 KCNJ5
8	long qt syndrome 1	9.6	KCNJ6 KCNJ5 KCNJ3
9	disease of mental health	8.6	TUBB4A SUCLG2 KNG1 KCNJ6 KCNJ3 GNB3
10	charcot-marie-tooth disease, dominant intermediate f	7.5	TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6

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®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.28	GNB1 GNB2 GNB4 GNB5 KCNJ3 KCNJ6

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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

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1h:

⁴⁰

Eye, Heart

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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 ⁵⁷	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 (2 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GNB3	G Protein Subunit Beta 3	Protein Coding	1015.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	27063057
2	CDCA3	Cell Division Cycle Associated 3	Protein Coding	407.84	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	27063057
3	GNB2	G Protein Subunit Beta 2	Protein Coding	6.04	DISEASES inferred ¹⁵
4	GNB4	G Protein Subunit Beta 4	Protein Coding	6.02	DISEASES inferred ¹⁵
5	RGS6	Regulator Of G Protein Signaling 6	Protein Coding	5.79	DISEASES inferred ¹⁵
6	GNB1	G Protein Subunit Beta 1	Protein Coding	5.61	DISEASES inferred ¹⁵
7	GNB5	G Protein Subunit Beta 5	Protein Coding	5.55	DISEASES inferred ¹⁵
8	PLCB2	Phospholipase C Beta 2	Protein Coding	5.43	DISEASES inferred ¹⁵
9	KCNJ3	Potassium Inwardly Rectifying Channel Subfamily J Member 3	Protein Coding	5.38	DISEASES inferred ¹⁵
10	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	5.15	DISEASES inferred ¹⁵
11	SUCLG2	Succinate-CoA Ligase GDP-Forming Subunit Beta	Protein Coding	5.02	DISEASES inferred ¹⁵
12	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	4.98	DISEASES inferred ¹⁵
13	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	4.42	DISEASES inferred ¹⁵
14	KNG1	Kininogen 1	Protein Coding	3.77	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	Position
1	GNB3	NM_002075.4(GNB3):c.170_172del (p.Lys57del)	Deletion	Pathogenic	242985	rs879253774	GRCh37: 12:6952206-6952208 GRCh38: 12:6843042-6843044
2	GNB3	NM_002075.4(GNB3):c.200C>T (p.Ser67Phe)	SNV	Pathogenic	242986	rs140263599	GRCh37: 12:6952237-6952237 GRCh38: 12:6843073-6843073
3	GNB3 , CDCA3	NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter)	SNV	Pathogenic	242984	rs879253773	GRCh37: 12:6956056-6956056 GRCh38: 12:6846892-6846892
4	GNB3	NM_002075.4(GNB3):c.495G>A (p.Thr165=)	SNV	Pathogenic	998197		GRCh37: 12:6952860-6952860 GRCh38: 12:6843696-6843696
5	GNB3	NM_002075.4(GNB3):c.265A>T (p.Lys89Ter)	SNV	Pathogenic	1029409		GRCh37: 12:6952399-6952399 GRCh38: 12:6843235-6843235
6	GNB3	NM_002075.4(GNB3):c.130_131del (p.Gln44fs)	Deletion	Pathogenic	1033474		GRCh37: 12:6952167-6952168 GRCh38: 12:6843003-6843004

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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 75)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.72	TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
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	13.57	RGS6 KNG1 GNB5 GNB4 GNB3 GNB2
3	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.53	RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
4	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.37	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
5	Integrin Pathway ⁶³ Show member pathways FAK1 Signaling ⁶³ GnRH Signaling ⁶³ Inhibition of Angiogenesis by TSP1 ⁶³ Transendothelial Migration of Leukocytes ⁶³ UPA-UPAR Pathway ⁶³	13.36	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
6	CREB Pathway ⁶³ Show member pathways Activation of PKC through GPCR ⁶³ Intracellular Calcium Signaling ⁶³ IP3 Pathway ⁶³	13.3	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
7	Response to elevated platelet cytosolic Ca2+ ⁶⁵ Show member pathways Disinhibition of SNARE formation ⁶⁵ Hemostasis ⁶⁵ Platelet activation, signaling and aggregation ⁶⁵ Platelet degranulation ⁶⁵	13.29	KNG1 GNB5 GNB4 GNB3 GNB2 GNB1
8	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	13.26	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
9	DAG and IP3 signaling ⁶⁵ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²³ 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 ²³ Development Role of Activin A in cell differentiation and proliferation ²³ 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 ²³ Neurophysiological process PGE2-induced pain processing ²³ 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 ²³	13.13	PLCB2 KCNJ3 GNB5 GNB4 GNB3 GNB2
10	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	13.09	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
11	TNFR1 Pathway ⁶³ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ 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	13.08	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
12	Sweet Taste Signaling ⁶³ Show member pathways Bitter Taste Signaling ⁶³ Cellular Effects of Sildenafil ⁶³ Melatonin Signaling ⁶³ Sperm Motility ⁶³	13.08	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
13	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 ²³ VEGF and S-1P Signaling ⁶³	13.03	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
14	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	13.02	GNB5 GNB4 GNB3 GNB2 GNB1
15	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.99	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
16	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	12.97	GNB5 GNB4 GNB3 GNB2 GNB1
17	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
18	Circadian entrainment ³⁶ Show member pathways Cholinergic synapse ³⁶ Dopaminergic synapse ³⁶ Glutamatergic synapse ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵ Relaxin signaling pathway ³⁶ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁴	12.95	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
19	Signaling by Wnt ⁶⁵ Show member pathways TCF dependent signaling in response to WNT ⁶⁵	12.94	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
20	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
21	NFAT and Cardiac Hypertrophy ⁶³ Show member pathways IGF1R Signaling ⁶³ Signaling Involved in Cardiac Hypertrophy ⁶³	12.91	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
22	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.91	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
23	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.9	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
24	Pathways in cancer ³⁶	12.9	PLCB2 KNG1 GNB5 GNB4 GNB3 GNB2
25	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	12.89	GNB5 GNB4 GNB3 GNB2 GNB1
26	ErbB4 Pathway ⁶³ Show member pathways ErbB Family Pathway ⁶³ ErbB2-ErbB3 Heterodimers ⁶³ Growth Hormone Signaling ⁶³ IL-4 Pathway ⁶³ Prolactin Signaling ⁶³ Thrombopoietin Pathway ⁶³ UVC-Induced MAPK Signaling ⁶³	12.87	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
27	IL-2 Pathway ⁶³ Show member pathways HMGB1 Pathway ⁶³ LPS Stimulated MAPK Signaling ⁶³ PACAP Signaling ⁶³ PI3K Signaling in B-Lymphocyte ⁶³ TREM1 Pathway ⁶³	12.85	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
28	Beta-Adrenergic Signaling ⁶³ Show member pathways CDK5 Pathway ⁶³ Erythropoietin Pathway ⁶³ Insulin Receptor Pathway ⁶³	12.82	GNB5 GNB4 GNB3 GNB2 GNB1
29	Ras signaling pathway ³⁶ Show member pathways Rap1 signaling pathway ³⁶	12.8	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
30	G-protein signaling G-Protein alpha-i signaling cascades ²³ Show member pathways Development Beta-adrenergic receptors regulation of ERK ²³ G-protein signaling G-Protein alpha-s signaling cascades ²³ G-protein signaling G-Protein beta/gamma signaling cascades ²³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³	12.78	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
31	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.72	RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
32	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.67	GNB5 GNB4 GNB3 GNB2 GNB1
33	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	12.66	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
34	Development Dopamine D2 receptor transactivation of EGFR ²³ Show member pathways Apoptosis and survival BAD phosphorylation ²³ BAD Phosphorylation ⁶³ Chemotaxis CXCR4 signaling pathway ²³ Development Alpha-2 adrenergic receptor activation of ERK ²³	12.64	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
35	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 ²³	12.61	RGS6 PLCB2 GNB5 GNB4 GNB3 GNB2
36	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.53	GNB5 GNB4 GNB3 GNB2 GNB1
37	Aquaporin-mediated transport ⁶⁵ Show member pathways Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²³ 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	12.5	GNB5 GNB4 GNB3 GNB2 GNB1
38	WNT Signaling ⁶³	12.5	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
39	Oxytocin signaling pathway ³⁶ Show member pathways Vascular smooth muscle contraction ³⁶	12.49	PLCB2 KCNJ6 KCNJ5 KCNJ3
40	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	12.49	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
41	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³	12.49	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4
42	EphB-EphrinB Signaling ⁶³ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²³ Ephrin-Eph Signaling ⁶³	12.47	TUBB4A GNB5 GNB4 GNB3 GNB2 GNB1
43	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	12.44	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
44	Immune response CCR3 signaling in eosinophils ²³ Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²³	12.42	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
45	Myometrial Relaxation and Contraction Pathways ¹ Show member pathways Calcium Regulation in the Cardiac Cell ¹	12.41	RGS6 KCNJ5 KCNJ3 GNB5 GNB4 GNB3
46	Development A3 receptor signaling ²³ Show member pathways Development A1 receptor signaling ²³ G-protein signaling G-Protein alpha-q signaling cascades ²³	12.4	PLCB2 GNB5 GNB4 GNB3 GNB2 GNB1
47	Chaperonin-mediated protein folding ⁶⁵ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁵ Protein folding ⁶⁵	12.39	TUBB4A RGS6 GNB5 GNB4 GNB3 GNB2
48	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.38	GNB5 GNB4 GNB3 GNB2 GNB1
49	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	12.34	GNB5 GNB4 GNB3 GNB2 GNB1
50	GABAergic synapse ³⁶ Show member pathways Morphine addiction ³⁶ Retrograde endocannabinoid signaling ³⁶	12.32	PLCB2 KCNJ6 KCNJ5 KCNJ3 GNB5 GNB4

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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:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.96	SUCLG2 RGS6 KNG1 KCNJ6 KCNJ5 KCNJ3
2	cell body	GO:0044297	9.33	GNB3 GNB2 GNB1
3	voltage-gated potassium channel complex	GO:0008076	9.13	KCNJ6 KCNJ5 KCNJ3
4	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of ion transmembrane transport	GO:0034765	9.61	KCNJ6 KCNJ5 KCNJ3
2	potassium ion transport	GO:0006813	9.58	KCNJ6 KCNJ5 KCNJ3
3	G protein-coupled receptor signaling pathway	GO:0007186	9.56	RGS6 PLCB2 KNG1 GNB5 GNB4 GNB3
4	regulation of heart rate by cardiac conduction	GO:0086091	9.48	KCNJ5 KCNJ3
5	Wnt signaling pathway, calcium modulating pathway	GO:0007223	9.46	PLCB2 GNB1
6	potassium ion import across plasma membrane	GO:1990573	9.43	KCNJ6 KCNJ5 KCNJ3
7	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.37	KCNJ5 KCNJ3
8	membrane repolarization during atrial cardiac muscle cell action potential	GO:0098914	9.32	KCNJ5 KCNJ3
9	ventricular cardiac muscle cell membrane repolarization	GO:0099625	9.16	KCNJ5 KCNJ3
10	protein folding	GO:0006457	9.02	GNB5 GNB4 GNB3 GNB2 GNB1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.34	TUBB4A SUCLG2 RGS6 PLCB2 KNG1 KCNJ6
2	protein-containing complex binding	GO:0044877	9.73	SUCLG2 GNB4 GNB2 GNB1
3	voltage-gated ion channel activity	GO:0005244	9.63	KCNJ6 KCNJ5 KCNJ3
4	GTPase activity	GO:0003924	9.63	TUBB4A RGS6 GNB5 GNB3 GNB2 GNB1
5	GTPase binding	GO:0051020	9.5	GNB3 GNB2 GNB1
6	spectrin binding	GO:0030507	9.48	GNB3 GNB1
7	inward rectifier potassium channel activity	GO:0005242	9.43	KCNJ6 KCNJ5 KCNJ3
8	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.4	KCNJ5 KCNJ3
9	voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	GO:0086089	9.37	KCNJ5 KCNJ3
10	G-protein activated inward rectifier potassium channel activity	GO:0015467	9.13	KCNJ6 KCNJ5 KCNJ3
11	G-protein gamma-subunit binding	GO:0031682	9.02	GNB5 GNB4 GNB3 GNB2 GNB1

Sources

Sources for Night Blindness, Congenital Stationary, Type 1h

¹ BioSystems

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³ CDC

⁴ Cell Signaling Technology

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¹² Disease Ontology

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²⁷ GEO DataSets

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³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

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³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁵ MESH via Orphanet

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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:

Classifications:

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®:

Clinical features from OMIM®:

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

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

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

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Genes for Night Blindness, Congenital Stationary, Type 1h

Genes related to Night Blindness, Congenital Stationary, Type 1h (2 elite genes):

Variations for Night Blindness, Congenital Stationary, Type 1h

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

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:

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

Sources for Night Blindness, Congenital Stationary, Type 1h