NAD
MCID: NTR027
MIFTS: 31

Neutrophil Actin Dysfunction (NAD)

Aliases & Classifications for Neutrophil Actin Dysfunction

MalaCards integrated aliases for Neutrophil Actin Dysfunction:

Name: Neutrophil Actin Dysfunction 57 55 73
Nad 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
neutrophil actin dysfunction:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 257150
MedGen 42 C1850380
SNOMED-CT via HPO 69 258211005 428875002
UMLS 73 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, liver and brain, 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 185)
# 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 11.0
8 vertebral, cardiac, renal, and limb defects syndrome 2 11.0
9 lung cancer 10.8
10 neuroblastoma 10.7
11 colorectal adenoma 10.5
12 aging 10.4
13 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.4
14 pancreatic ductal adenocarcinoma 10.2
15 endometriosis 10.2
16 ischemia 10.2
17 alzheimer disease 10.1
18 leukemia 10.1
19 colorectal cancer 10.1
20 pancreatic cancer 10.1
21 hypoxia 10.1
22 6-phosphogluconate dehydrogenase deficiency 10.1
23 prostate cancer 10.1
24 melanoma 10.1
25 fatty liver disease 10.1
26 alcoholic hepatitis 10.0
27 small cell cancer of the lung 10.0
28 brain injury 10.0
29 liver disease 10.0
30 lymphocytic leukemia 10.0
31 diphtheria 10.0
32 adenocarcinoma 10.0
33 ovarian cancer 9.9
34 schizophrenia 9.9
35 microvascular complications of diabetes 3 9.9
36 microvascular complications of diabetes 4 9.9
37 microvascular complications of diabetes 6 9.9
38 microvascular complications of diabetes 7 9.9
39 leukemia, acute lymphoblastic 9.9
40 diabetes mellitus 9.9
41 haemophilus influenzae 9.9
42 wallerian degeneration 9.9
43 arteries, anomalies of 9.9
44 bladder cancer 9.9
45 breast cancer 9.9
46 hepatocellular carcinoma 9.9
47 esophageal cancer 9.9
48 endometrial cancer 9.9
49 gastric cancer 9.9
50 cholangiocarcinoma 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

Symptoms via clinical synopsis from OMIM:

57
Misc:
recurrent bacterial infections

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


Clinical features from OMIM:

257150

Human phenotypes related to Neutrophil Actin Dysfunction:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 recurrent bacterial infections 32 HP:0002718

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:

41
Neutrophil, Liver, Brain, Endothelial, Heart, Lung, Prostate

Publications for Neutrophil Actin Dysfunction

Articles related to Neutrophil Actin Dysfunction:

(show top 50) (show all 845)
# Title Authors Year
1
Targeting NAD+ synthesis to boost mitochondrial function and protect the kidney. ( 30443015 )
2019
2
Macrophage de novo NAD+ synthesis specifies immune function in aging and inflammation. ( 30478397 )
2018
3
Aging: Promoting NAD+ production. ( 30482958 )
2018
4
Correction to: PARP1 inhibitor (PJ34) improves the function of aging-induced endothelial progenitor cells by preserving intracellular NAD+ levels and increasing SIRT1 activity. ( 30359294 )
2018
5
PARP1 inhibitor (PJ34) improves the function of aging-induced endothelial progenitor cells by preserving intracellular NAD+ levels and increasing SIRT1 activity. ( 30139380 )
2018
6
The effect of succinate on brain NADH/NAD+ redox state and high energy phosphate metabolism in acute traumatic brain injury. ( 30042490 )
2018
7
Rapid Assessment of Mitochondrial Complex I Activity and Metabolic Phenotyping of Breast Cancer Cells by NAD(p)H Cytometry. ( 30536579 )
2018
8
NNMT activation can contribute to the development of fatty liver disease by modulating the NAD + metabolism. ( 29872122 )
2018
9
Interplay between NAD+ and acetyl‑CoA metabolism in ischemia-induced mitochondrial pathophysiology. ( 30261291 )
2018
10
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD. ( 30429455 )
2018
11
Non-NAD-like PARP1 inhibitor enhanced synthetic lethal effect of NAD-like PARP inhibitors against BRCA1-deficient leukemia. ( 30277116 )
2018
12
Discovery of Non-Quinone Substrates for NAD(P)H: Quinone Oxidoreductase 1 (NQO1) as Effective Intracellular ROS Generators for the Treatment of Drug-Resistant Non-Small Cell Lung Cancer. ( 30508483 )
2018
13
Facilitation of 9,10-phenanthrenequinone-elicited neuroblastoma cell apoptosis by NAD(P)H:quinone oxidoreductase 1. ( 29108775 )
2018
14
Silybin inhibits NLRP3 inflammasome assembly through the NAD+/SIRT2 pathway in mice with nonalcoholic fatty liver disease. ( 28970254 )
2018
15
Targeting NAD+/PARP DNA Repair Pathway as a Novel Therapeutic Approach to SDHB-Mutated Cluster I Pheochromocytoma and Paraganglioma. ( 29636359 )
2018
16
De novo NAD synthesis is required for intracellular replication of Coxiella burnetii, the causative agent of the neglected zoonotic disease Q fever. ( 30315113 )
2018
17
Increased NAD(H) pool promotes colon cancer progression by suppressing ROS level. ( 30457689 )
2018
18
Engineering NADH/NAD+ ratio in Halomonas bluephagenesis for enhanced production of polyhydroxyalkanoates (PHA). ( 30219528 )
2018
19
Reversible redox inter-conversion of biologically active NAD+/NADH derivatives bound to a gold electrode: ToF-SIMS evidence. ( 30457615 )
2018
20
Investigation of the Ionization Mechanism of NAD+/NADH-Modified Gold Electrodes in ToF-SIMS Analysis. ( 29869326 )
2018
21
Functional effects of active site mutations in NAD+-dependent formate dehydrogenases on transformation of hydrogen carbonate to formate. ( 30321426 )
2018
22
Studying NAD(P)H cofactor-binding to alcohol dehydrogenases through global analysis of circular dichroism spectra. ( 30328850 )
2018
23
Host NAD+ metabolism and infections: therapeutic implications. ( 30329059 )
2018
24
JNK-mediated phosphorylation of SARM1 regulates NAD+ cleavage activity to inhibit mitochondrial respiration. ( 30333228 )
2018
25
Sirtuins and NAD+ in the Development and Treatment of Metabolic and Cardiovascular Diseases. ( 30355082 )
2018
26
De novo NAD+ synthesis enhances mitochondrial function and improves health. ( 30356218 )
2018
27
Fluorescence lifetime shifts of NAD(P)H during apoptosis measured by time-resolved flow cytometry. ( 30369063 )
2018
28
An NAD+-dependent novel transcription factor controls stage conversion in Entamoeba. ( 30375973 )
2018
29
Alpha-Amino-Beta-Carboxy-Muconate-Semialdehyde Decarboxylase Controls Dietary Niacin Requirements for NAD+ Synthesis. ( 30380424 )
2018
30
A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. ( 30404003 )
2018
31
Extracellular Degradation Into Adenosine and the Activities of Adenosine Kinase and AMPK Mediate Extracellular NAD+-Produced Increases in the Adenylate Pool of BV2 Microglia Under Basal Conditions. ( 30405351 )
2018
32
α-Mangostin Alleviated Lipopolysaccharide Induced Acute Lung Injury in Rats by Suppressing NAMPT/NAD Controlled Inflammatory Reactions. ( 30405740 )
2018
33
Aminoglycosides rapidly inhibit NAD(P)H metabolism increasing reactive oxygen species and cochlear cell demise. ( 30411553 )
2018
34
Molecular mechanism of metabolic NAD(P)H-dependent electron-transfer systems: The role of redox cofactors. ( 30419202 )
2018
35
Retraction: Disruption of the NAD(P)H:Quinone Oxidoreductase 1 (NQO1) Gene in Mice Causes Myelogenous Hyperplasia. ( 30442815 )
2018
36
Expanded genetic screening in Caenorhabditis elegans identifies new regulators and an inhibitory role for NAD+ in axon regeneration. ( 30461420 )
2018
37
NAD binding by human CD38 analyzed by Trp189 fluorescence. ( 30472140 )
2018
38
Isolation of RNA and beta-NAD by phenylboronic acid functionalized, monodisperse-porous silica microspheres as sorbent in batch and microfluidic boronate affinity systems. ( 30472619 )
2018
39
Nicotinamide-Containing Di- and Trinucleotides as Chemical Tools for Studies of NAD-Capped RNAs. ( 30479128 )
2018
40
Toxicity of Melaleuca alternifolia essential oil to the mitochondrion and NAD+/NADH dehydrogenase in Tribolium confusum. ( 30479882 )
2018
41
MopA, the Mn Oxidizing Protein From Erythrobacter sp. SD-21, Requires Heme and NAD+ for Mn(II) Oxidation. ( 30487779 )
2018
42
Correction to: ADP-ribosylation and NAD+ Utilizing Enzymes. ( 30488319 )
2018
43
Modelling the impact of changes in the extracellular environment on the cytosolic free NAD+/NADH ratio during cell culture. ( 30496306 )
2018
44
Human DNA ligase IV is able to use NAD+ as an alternative adenylation donor for DNA ends ligation. ( 30496552 )
2018
45
The Ralstonia solanacearum effector RipN suppresses plant PAMP-triggered immunity, localizes to the endoplasmic reticulum and nucleus, and alters the NADH/NAD+ ratio in Arabidopsis. ( 30499216 )
2018
46
Lactobacillus reuteri NAD(P)H oxidase: Properties and coexpression with propanediol-utilization enzymes for enhancing 3-hydroxypropionic acid production from 3-hydroxypropionaldehyde. ( 30503904 )
2018
47
SIRT6 deacetylase activity regulates NAMPT activity and NAD(P)(H) pools in cancer cells. ( 30514106 )
2018
48
NAD(P)H quinone oxidoreductase 1 (NQO1): an enzyme which needs just enough mobility, in just the right places. ( 30518535 )
2018
49
Dicyanoisophorone-Based Near-Infrared Emission Fluorescent Probe for Detecting NAD(P)H in Living Cells and in Vivo. ( 30525465 )
2018
50
Validation of NAD Synthase Inhibitors for Inhibiting the Cell Viability of Leishmania donovani: In Silico and In Vitro Approach. ( 30526395 )
2018

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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