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 vertebral, cardiac, renal, and limb defects syndrome 1 and sjogren-larsson syndrome. An important gene associated with Neutrophil Actin Dysfunction is LSP1 (Lymphocyte Specific Protein 1). Affiliated tissues include neutrophil, liver and endothelial, 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 234)
# Related Disease Score Top Affiliating Genes
1 vertebral, cardiac, renal, and limb defects syndrome 1 11.5
2 sjogren-larsson syndrome 11.4
3 vertebral, cardiac, renal, and limb defects syndrome 2 11.4
4 hyperlysinemia, type i 11.3
5 congenital vertebral-cardiac-renal anomalies syndrome 11.2
6 hartnup disorder 11.1
7 cortisone reductase deficiency 11.1
8 lactate dehydrogenase deficiency 11.1
9 lung cancer 10.8
10 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.6
11 colorectal adenoma 10.5
12 aging 10.5
13 diphtheria 10.3
14 ischemia 10.3
15 leukemia 10.2
16 pancreatic ductal adenocarcinoma 10.2
17 endometriosis 10.2
18 brain injury 10.2
19 hypoxia 10.2
20 alzheimer disease 10.2
21 pancreatic cancer 10.1
22 haemophilus influenzae 10.1
23 breast cancer 10.1
24 rere-related disorders 10.1
25 6-phosphogluconate dehydrogenase deficiency 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 fatty liver disease 10.1
31 alcoholic hepatitis 10.1
32 microvascular complications of diabetes 3 10.1
33 microvascular complications of diabetes 4 10.1
34 microvascular complications of diabetes 6 10.1
35 microvascular complications of diabetes 7 10.1
36 melanoma 10.1
37 adenocarcinoma 10.1
38 hepatocellular carcinoma 10.0
39 diabetes mellitus 10.0
40 liver disease 10.0
41 lymphoma 10.0
42 lymphocytic leukemia 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 bladder cancer 9.9
48 burkitt lymphoma 9.9
49 multiple sclerosis 9.9
50 ovarian cancer 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, Liver, Endothelial, Brain, Heart, Smooth Muscle, Prostate

Publications for Neutrophil Actin Dysfunction

Articles related to Neutrophil Actin Dysfunction:

(show top 50) (show all 3001)
# Title Authors Year
1
Macrophage de novo NAD+ synthesis specifies immune function in aging and inflammation. ( 30478397 )
2019
2
Mitophagy and NAD+ inhibit Alzheimer disease. ( 30922179 )
2019
3
DNA damage-induced PARP1 activation confers cardiomyocyte dysfunction through NAD+ depletion in experimental atrial fibrillation. ( 30898999 )
2019
4
The Role of ZNF143 in Breast Cancer Cell Survival Through the NAD(P)H Quinone Dehydrogenase 1⁻p53⁻Beclin1 Axis Under Metabolic Stress. ( 30935019 )
2019
5
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
6
Non-NAD-like PARP-1 inhibitors in prostate cancer treatment. ( 30880062 )
2019
7
PGC-1α, Sirtuins and PARPs in Huntington's Disease and Other Neurodegenerative Conditions: NAD+ to Rule Them All. ( 31065944 )
2019
8
Implications of altered NAD metabolism in metabolic disorders. ( 31078136 )
2019
9
SIRT2, ERK and Nrf2 Mediate NAD+ Treatment-Induced Increase in the Antioxidant Capacity of PC12 Cells Under Basal Conditions. ( 31080405 )
2019
10
Computational approach identifies protein off-targets for Isoniazid-NAD adduct: hypothesizing a possible drug resistance mechanism in Mycobacterium tuberculosis. ( 31094664 )
2019
11
An integrative bioinformatics pipeline to demonstrate the alteration of the interaction between the ALDH2*2 allele with NAD+ and Disulfiram. ( 31104322 )
2019
12
NAD(P)H quinone oxidoreductase (NQO1): an enzyme which needs just enough mobility, in just the right places. ( 30518535 )
2019
13
Dicyanoisophorone-Based Near-Infrared-Emission Fluorescent Probe for Detecting NAD(P)H in Living Cells and in Vivo. ( 30525465 )
2019
14
Reverse metabolic engineering in lager yeast: impact of the NADH/NAD+ ratio on acetaldehyde production during the brewing process. ( 30535678 )
2019
15
The catalytic mechanism of electron-bifurcating electron transfer flavoproteins (ETFs) involves an intermediary complex with NAD<sup/>. ( 30567738 )
2019
16
Metabolic aspects of neuronal degeneration: From a NAD+ point of view. ( 30006197 )
2019
17
Analysis of the bacterial community from high alkaline (pH > 13) drainage water at a brown mud disposal site near Žiar nad Hronom (Banská Bystrica region, Slovakia) using 454 pyrosequencing. ( 30084086 )
2019
18
NAD metabolism and the SLC34 family: evidence for a liver-kidney axis regulating inorganic phosphate. ( 30218374 )
2019
19
The RES domain toxins of RES-Xre toxin-antitoxin modules induce cell stasis by degrading NAD. ( 30315706 )
2019
20
Studying NAD(P)H cofactor-binding to alcohol dehydrogenases through global analysis of circular dichroism spectra. ( 30328850 )
2019
21
Host NAD+ metabolism and infections: therapeutic implications. ( 30329059 )
2019
22
Alternative NAD(P)H dehydrogenase and alternative oxidase: Proposed physiological roles in animals. ( 29421444 )
2019
23
Regulation of Cancer and Cancer-Related Genes via NAD. ( 29334761 )
2019
24
NAD+ Deficiency Is a Common Central Pathological Factor of a Number of Diseases and Aging: Mechanisms and Therapeutic Implications. ( 29295624 )
2019
25
Signaling and Regulation Through the NAD+ and NADP+ Networks. ( 29284289 )
2019
26
Evaluating Cell Metabolism Through Autofluorescence Imaging of NAD(P)H and FAD. ( 29268621 )
2019
27
SIRT6 deacetylase activity regulates NAMPT activity and NAD(P)(H) pools in cancer cells. ( 30514106 )
2019
28
NAD binding by human CD38 analyzed by Trp189 fluorescence. ( 30472140 )
2019
29
Targeting NAD+ synthesis to boost mitochondrial function and protect the kidney. ( 30443015 )
2019
30
Fluorescence lifetime shifts of NAD(P)H during apoptosis measured by time-resolved flow cytometry. ( 30369063 )
2019
31
CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1. ( 30205735 )
2019
32
Kinetic Investigation of a Presumed Nitronate Monooxygenase from Pseudomonas aeruginosa PAO1 Establishes a New Class of NAD(P)H:quinone Reductases. ( 31075192 )
2019
33
Palmitic Acid-Induced NAD+ Depletion is Associated with the Reduced Function of SIRT1 and Increased Expression of BACE1 in Hippocampal Neurons. ( 31073968 )
2019
34
NAD Metabolic Dependency Determines Therapeutic Sensitivity in Cancer. ( 31053632 )
2019
35
NAD metabolites interfere with proliferation and functional properties of THP-1 cells. ( 31053044 )
2019
36
Selectivity through discriminatory induced fit enables switching of NAD(P)H coenzyme specificity in Old Yellow Enzyme ene-reductases. ( 31033202 )
2019
37
GlSir2.1 of Giardia lamblia is a NAD+-dependent cytoplasmic deacetylase. ( 31025022 )
2019
38
Developing a single strain for in vitro salvage synthesis of NAD+ at high temperatures and its potential for bioconversion. ( 31023312 )
2019
39
Polarised Two-Photon Absorption and Heterogeneous Fluorescence Dynamics in NAD(P)H. ( 31021092 )
2019
40
NAD metabolic dependency in cancer is shaped by gene amplification and enhancer remodelling. ( 31019297 )
2019
41
NAD+-dependent RNA terminal 2' and 3' phosphomonoesterase activity of a sub-set of Tpt1 enzymes. ( 31019096 )
2019
42
Genomic Islands in the Full-Genome Sequence of an NAD-Hemin-Independent Avibacterium paragallinarum Strain Isolated from Peru. ( 31000542 )
2019
43
Purification of Adult Hymenolepis diminuta (Cestoda) Mitochondrial NADPH→NAD+ Transhydrogenase. ( 30998130 )
2019
44
Crystal Structure of GenD2, an NAD-Dependent Oxidoreductase Involved in the Biosynthesis of Gentamicin. ( 30995396 )
2019
45
Combination of double-mediator system with large-scale integration-based amperometric devices for detecting NAD(P)H:quinone oxidoreductase 1 activity of cancer cell aggregates. ( 30995391 )
2019
46
Cross-talk in NAD+ metabolism: insights from Saccharomyces cerevisiae. ( 30993413 )
2019
47
The NADase CD38 is induced by factors secreted from senescent cells providing a potential link between senescence and age-related cellular NAD+ decline. ( 30975470 )
2019
48
Subcellular compartmentalization of NAD+ and its role in cancer: A sereNADe of metabolic melodies. ( 30974124 )
2019
49
Novel Antimycobacterial Compounds Suppress NAD Biogenesis by Targeting a Unique Pocket of NaMN Adenylyltransferase. ( 30969758 )
2019
50
Application of WST-8 based colorimetric NAD(P)H detection for quantitative dehydrogenase assays. ( 30961528 )
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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