NAD
MCID: NTR027
MIFTS: 32

Neutrophil Actin Dysfunction (NAD)

Aliases & Classifications for Neutrophil Actin Dysfunction

MalaCards integrated aliases for Neutrophil Actin Dysfunction:

Name: Neutrophil Actin Dysfunction 58 56 74
Nad 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
neutrophil actin dysfunction:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 257150
MedGen 43 C1850380
SNOMED-CT via HPO 70 258211005 428875002
UMLS 74 C1850380

Summaries for Neutrophil Actin Dysfunction

MalaCards based summary : Neutrophil Actin Dysfunction, also known as nad, is related to hyperlysinemia, type i and vertebral, cardiac, renal, and limb defects syndrome 1. An important gene associated with Neutrophil Actin Dysfunction is LSP1 (Lymphocyte Specific Protein 1). Affiliated tissues include neutrophil, endothelial and liver, and related phenotypes are abnormality of metabolism/homeostasis and recurrent bacterial infections

Description from OMIM: 257150

Related Diseases for Neutrophil Actin Dysfunction

Diseases related to Neutrophil Actin Dysfunction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 hyperlysinemia, type i 11.3
2 vertebral, cardiac, renal, and limb defects syndrome 1 11.2
3 congenital vertebral-cardiac-renal anomalies syndrome 11.2
4 hartnup disorder 11.1
5 cortisone reductase deficiency 11.1
6 lactate dehydrogenase deficiency 11.1
7 sjogren-larsson syndrome 11.1
8 vertebral, cardiac, renal, and limb defects syndrome 2 11.1
9 lung cancer 10.8
10 neuroblastoma 10.7
11 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.5
12 aging 10.5
13 colorectal adenoma 10.5
14 diphtheria 10.3
15 ischemia 10.3
16 leukemia 10.2
17 pancreatic ductal adenocarcinoma 10.2
18 endometriosis 10.2
19 brain injury 10.2
20 hypoxia 10.2
21 alzheimer disease 10.1
22 pancreatic cancer 10.1
23 haemophilus influenzae 10.1
24 rere-related disorders 10.1
25 breast cancer 10.1
26 colorectal cancer 10.1
27 prostate cancer 10.1
28 prostate cancer, hereditary, 8 10.1
29 prostate cancer, hereditary, 6 10.1
30 microvascular complications of diabetes 3 10.1
31 microvascular complications of diabetes 4 10.1
32 microvascular complications of diabetes 6 10.1
33 microvascular complications of diabetes 7 10.1
34 melanoma 10.1
35 fatty liver disease 10.1
36 alcoholic hepatitis 10.1
37 hepatocellular carcinoma 10.0
38 diabetes mellitus 10.0
39 liver disease 10.0
40 lymphoma 10.0
41 lymphocytic leukemia 10.0
42 adenocarcinoma 10.0
43 diabetes mellitus, noninsulin-dependent 10.0
44 schizophrenia 10.0
45 small cell cancer of the lung 10.0
46 arteries, anomalies of 9.9
47 multiple sclerosis 9.9
48 ovarian cancer 9.9
49 endometrial cancer 9.9
50 leukemia, acute lymphoblastic 9.9

Graphical network of the top 20 diseases related to Neutrophil Actin Dysfunction:



Diseases related to Neutrophil Actin Dysfunction

Symptoms & Phenotypes for Neutrophil Actin Dysfunction

Human phenotypes related to Neutrophil Actin Dysfunction:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 recurrent bacterial infections 33 HP:0002718

Symptoms via clinical synopsis from OMIM:

58
Misc:
recurrent bacterial infections

Lab:
pmns severely defective in migration and particle ingestion
failure of pmn actin polymerization

Clinical features from OMIM:

257150

Drugs & Therapeutics for Neutrophil Actin Dysfunction

Search Clinical Trials , NIH Clinical Center for Neutrophil Actin Dysfunction

Genetic Tests for Neutrophil Actin Dysfunction

Anatomical Context for Neutrophil Actin Dysfunction

MalaCards organs/tissues related to Neutrophil Actin Dysfunction:

42
Neutrophil, Endothelial, Liver, Brain, Heart, Smooth Muscle, Skeletal Muscle

Publications for Neutrophil Actin Dysfunction

Articles related to Neutrophil Actin Dysfunction:

(show top 50) (show all 2164)
# Title Authors Year
1
Impairment of an Endothelial NAD+-H2S Signaling Network Is a Reversible Cause of Vascular Aging. ( 30735637 )
2019
2
Macrophage de novo NAD+ synthesis specifies immune function in aging and inflammation. ( 30478397 )
2019
3
DNA damage-induced PARP1 activation confers cardiomyocyte dysfunction through NAD+ depletion in experimental atrial fibrillation. ( 30898999 )
2019
4
NAD(P)H: quinone oxidoreductase 1 overexpression in Hepatocellular Carcinoma potentiates apoptosis evasion through regulating stabilization of X-linked inhibitor of apoptosis protein. ( 30867140 )
2019
5
Non-NAD-like PARP-1 inhibitors in prostate cancer treatment. ( 30880062 )
2019
6
Lactobacillus reuteri NAD(P)H oxidase: Properties and coexpression with propanediol-utilization enzymes for enhancing 3-hydroxypropionic acid production from 3-hydroxypropionaldehyde. ( 30503904 )
2019
7
NAD(P)H quinone oxidoreductase (NQO1): an enzyme which needs just enough mobility, in just the right places. ( 30518535 )
2019
8
Reverse metabolic engineering in lager yeast: impact of the NADH/NAD+ ratio on acetaldehyde production during the brewing process. ( 30535678 )
2019
9
Catalytic Biomimetic Asymmetric Reduction of Alkenes and Imines Enabled by Chiral and Regenerable NAD(P)H Models. ( 30556234 )
2019
10
Targeting NAD+ Metabolism to Enhance Radiation Therapy Responses. ( 30573185 )
2019
11
Low metformin causes a more oxidized mitochondrial NADH/NAD redox state in hepatocytes and inhibits gluconeogenesis by a redox-independent mechanism. ( 30591586 )
2019
12
Single-cell redox states analyzed by fluorescence lifetime metrics and tryptophan FRET interaction with NAD(P)H. ( 30604477 )
2019
13
Constraints-based analysis identifies NAD+ recycling through metabolic reprogramming in antibiotic resistant Chromobacterium violaceum. ( 30608971 )
2019
14
A cytosolic NAD+-dependent GPDH from maize (ZmGPDH1) is involved in conferring salt and osmotic stress tolerance. ( 30626322 )
2019
15
Keeping the balance in NAD metabolism. ( 30626706 )
2019
16
A Regulatory NADH/NAD+ Redox Biosensor for Bacteria. ( 30633862 )
2019
17
Emissive Synthetic Cofactors: A Highly Responsive NAD+ Analogue Reveals Biomolecular Recognition Features. ( 30648291 )
2019
18
β-Lapachone protects against doxorubicin-induced nephrotoxicity via NAD+/AMPK/NF-kB in mice. ( 30671613 )
2019
19
Methanol fermentation increases the production of NAD(P)H-dependent chemicals in synthetic methylotrophic Escherichia coli. ( 30679956 )
2019
20
Polyunsaturated Fatty Acid Desaturation Is a Mechanism for Glycolytic NAD+ Recycling. ( 30686744 )
2019
21
The E3 ligase Highwire promotes synaptic transmission by targeting the NAD-synthesizing enzyme dNmnat. ( 30692130 )
2019
22
One of the NAD kinases, sll1415, is required for the glucose metabolism of Synechocystis sp. PCC 6803. ( 30693583 )
2019
23
Homologous role of CovRS two-component regulatory system in NAD+ -glycohydrolase activity in Streptococcus dysgalactiae subsp. equisimilis as in Streptococcus pyogenes. ( 30698306 )
2019
24
Constitutive Activation of NAD-Dependent Sirtuin 3 Plays an Important Role in Tumorigenesis of Chromium(VI)-Transformed Cells. ( 30715550 )
2019
25
Can Carob-Fruit-Extract-Enriched Meat Improve the Lipoprotein Profile, VLDL-Oxidation, and LDL Receptor Levels Induced by an Atherogenic Diet in STZ-NAD-Diabetic Rats? ( 30717491 )
2019
26
Metabolic Profiling of Live Cancer Tissues Using NAD(P)H Fluorescence Lifetime Imaging. ( 30725465 )
2019
27
Efficient production of androstenedione by repeated batch fermentation in waste cooking oil media through regulating NAD+/NADH ratio and strengthening cell vitality of Mycobacterium neoaurum. ( 30735930 )
2019
28
UDP-glucose Dehydrogenase: The First-step Oxidation Is an NAD+-dependent Bimolecular Nucleophilic Substitution Reaction (SN2). ( 30745825 )
2019
29
Snake venom NAD glycohydrolases: primary structures, genomic location, and gene structure. ( 30755823 )
2019
30
Extracellular ATP and β-NAD alter electrical properties and cholinergic effects in the rat heart in age-specific manner. ( 30756226 )
2019
31
Functional definition of NrtR, a remnant regulator of NAD+ homeostasis in the zoonotic pathogen Streptococcus suis. ( 30759348 )
2019
32
The copper-sensing transcription factor Mac1, the histone deacetylase Hst1, and nicotinic acid regulate de novo NAD+ biosynthesis in budding yeast. ( 30760525 )
2019
33
Regulation of permeability transition pore opening in mitochondria by external NAD(H). ( 30763605 )
2019
34
NAD+ metabolism as a target for metabolic health: have we found the silver bullet? ( 30772929 )
2019
35
NAD+ metabolism governs the proinflammatory senescence-associated secretome. ( 30778219 )
2019
36
Aryl hydrocarbon receptor (AHR) functions in NAD+ metabolism, myelopoiesis and obesity. ( 30779909 )
2019
37
Niacin: an old lipid drug in a new NAD+ dress. ( 30782960 )
2019
38
Cellular Compartmentation and the Redox/Non-Redox Functions of NAD<sup>+</sup>. ( 30784294 )
2019
39
Antioxidative pseudo-enzymatic mechanism of NAD(P)H coexisting with oxyhemoglobin for suppressed methemoglobin formation. ( 30789715 )
2019
40
An NAD+ Phosphorylase Toxin Triggers Mycobacterium tuberculosis Cell Death. ( 30792174 )
2019
41
ACMSD: A Novel Target for Modulating NAD+ Homeostasis. ( 30799186 )
2019
42
Identification of novel NAD(P)H dehydrogenase [quinone] 1 antagonist using computational approaches. ( 30806580 )
2019
43
Targeting NAD+ Metabolism as Interventions for Mitochondrial Disease. ( 30816177 )
2019
44
Assessment of NAD+metabolism in human cell cultures, erythrocytes, cerebrospinal fluid and primate skeletal muscle. ( 30822397 )
2019
45
Synthesis of Formate from CO2 Gas Catalyzed by an O2-tolerant NAD-Dependent Formate Dehydrogenase and Glucose Dehydrogenase. ( 30839197 )
2019
46
Direct stimulation of NADP+ synthesis through Akt-mediated phosphorylation of NAD kinase. ( 30846598 )
2019
47
Thylakoid Localized Type 2 NAD(P)H Dehydrogenase NdbA Optimizes Light-Activated Heterotrophic Growth of Synechocystis sp. PCC 6803. ( 30847494 )
2019
48
The NAD-Booster Nicotinamide Riboside Potently Stimulates Hematopoiesis through Increased Mitochondrial Clearance. ( 30849366 )
2019
49
A Focused DNA-encoded Chemical Library for the Discovery of Inhibitors of NAD+-dependent Enzymes. ( 30855951 )
2019
50
Inflammatory macrophage dependence on NAD+ salvage is a consequence of reactive oxygen species-mediated DNA damage. ( 30858618 )
2019

Variations for Neutrophil Actin Dysfunction

Expression for Neutrophil Actin Dysfunction

Search GEO for disease gene expression data for Neutrophil Actin Dysfunction.

Pathways for Neutrophil Actin Dysfunction

GO Terms for Neutrophil Actin Dysfunction

Cellular components related to Neutrophil Actin Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 8.62 ACTG1 LSP1

Molecular functions related to Neutrophil Actin Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.62 LSP1 SHROOM3

Sources for Neutrophil Actin Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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