NAD
MCID: NTR027
MIFTS: 24

Neutrophil Actin Dysfunction (NAD)

Aliases & Classifications for Neutrophil Actin Dysfunction

MalaCards integrated aliases for Neutrophil Actin Dysfunction:

Name: Neutrophil Actin Dysfunction 56 54 71
Nad 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
neutrophil actin dysfunction:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 257150
MedGen 41 C1850380
SNOMED-CT via HPO 68 258211005 428875002
UMLS 71 C1850380

Summaries for Neutrophil Actin Dysfunction

MalaCards based summary : Neutrophil Actin Dysfunction, also known as nad, is related to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 and hyperlysinemia, type i. An important gene associated with Neutrophil Actin Dysfunction is LSP1 (Lymphocyte Specific Protein 1). Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are abnormality of metabolism/homeostasis and recurrent bacterial infections

More information 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 500)
# Related Disease Score Top Affiliating Genes
1 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 12.0
2 hyperlysinemia, type i 11.7
3 vertebral, cardiac, renal, and limb defects syndrome 1 11.6
4 2,4-dienoyl-coa reductase deficiency 11.5
5 sjogren-larsson syndrome 11.5
6 vertebral, cardiac, renal, and limb defects syndrome 2 11.5
7 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 11.5
8 vertebral, cardiac, renal, and limb defects syndrome 3 11.5
9 congenital vertebral-cardiac-renal anomalies syndrome 11.3
10 hartnup disorder 11.2
11 cortisone reductase deficiency 11.2
12 lactate dehydrogenase deficiency 11.2
13 lung cancer 10.9
14 neuroblastoma 10.8
15 pancreatic ductal adenocarcinoma 10.7
16 colorectal adenoma 10.6
17 diphtheria 10.5
18 pertussis 10.4
19 aging 10.4
20 endometriosis 10.4
21 colorectal cancer 10.3
22 fatty liver disease 10.3
23 cholera 10.3
24 vascular disease 10.3
25 haemophilus influenzae 10.3
26 pancreatic cancer 10.2
27 microvascular complications of diabetes 3 10.2
28 microvascular complications of diabetes 4 10.2
29 microvascular complications of diabetes 6 10.2
30 microvascular complications of diabetes 7 10.2
31 non-alcoholic fatty liver disease 10.2
32 ischemia 10.2
33 hyperglycemia 10.2
34 wallerian degeneration 10.2
35 alzheimer disease 10.2
36 breast cancer 10.2
37 hypercholesterolemia, familial, 1 10.2
38 alcoholic hepatitis 10.2
39 chronic acquired demyelinating polyneuropathy 10.2
40 proteasome-associated autoinflammatory syndrome 1 10.2
41 helix syndrome 10.2
42 hepatoblastoma 10.2
43 ataxia and polyneuropathy, adult-onset 10.1
44 leukemia 10.1
45 brain injury 10.1
46 atherosclerosis susceptibility 10.1
47 bladder cancer 10.1
48 hepatocellular carcinoma 10.1
49 huntington disease 10.1
50 arts syndrome 10.1

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 recurrent bacterial infections 31 HP:0002718

Symptoms via clinical synopsis from OMIM:

56
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:

40
Neutrophil, Bone Marrow, Bone, Myeloid

Publications for Neutrophil Actin Dysfunction

Articles related to Neutrophil Actin Dysfunction:

(show all 15)
# Title Authors PMID Year
1
Neutrophil actin dysfunction is a genetic disorder associated with partial impairment of neutrophil actin assembly in three family members. 56 61
3183050 1988
2
Neutrophil actin dysfunction and abnormal neutrophil behavior. 61 56
4609060 1974
3
Bone marrow transplantation for an infant with neutrophil dysfunction. 56
321233 1977
4
Lymphocyte-specific protein 1 expression in eukaryotic cells reproduces the morphologic and motile abnormality of NAD 47/89 neutrophils. 61 54
9616178 1998
5
The actin-binding protein, lymphocyte-specific protein 1, is expressed in human leukocytes and human myeloid and lymphoid cell lines. 54 61
7561054 1995
6
Neutrophil cytoskeletal disease. 61
11594510 2001
7
Aberrant expression and localization of the cytoskeleton-binding pp52 (LSP1) protein in hairy cell leukemia. 61
11137562 2001
8
Human lymphocyte-specific protein 1, the protein overexpressed in neutrophil actin dysfunction with 47-kDa and 89-kDa protein abnormalities (NAD 47/89), has multiple F-actin binding domains. 61
10925289 2000
9
[Neutrophil actin dysfunction]. 61
9833432 1998
10
The 47-kD protein increased in neutrophil actin dysfunction with 47- and 89-kD protein abnormalities is lymphocyte-specific protein. 61
8274738 1994
11
Association of aberrant F-actin formation with defective leukocyte chemotaxis and recurrent pyoderma. 61
1959239 1991
12
Activation of neutrophils: measurement of actin conformational changes by flow cytometry. 61
2190647 1990
13
The relationship between CR3 deficiency and neutrophil actin assembly. 61
2523744 1989
14
Cell biology of leukocyte abnormalities--membrane and cytoskeletal function in normal and defective cells. A review. 61
211848 1978
15
Contractile proteins in phagocytosis: an example of cell surface-to-cytoplasm communication. 61
141380 1977

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 8.96 LSP1 ACTG1
2 apical junction complex GO:0043296 8.62 SHROOM3 ACTG1

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 SHROOM3 LSP1

Sources for Neutrophil Actin Dysfunction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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