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, 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 158)
# Related Disease Score Top Affiliating Genes
1 hyperlysinemia, type i 11.1
2 vertebral, cardiac, renal, and limb defects syndrome 1 11.0
3 hartnup disorder 10.9
4 cortisone reductase deficiency 10.9
5 lactate dehydrogenase deficiency 10.9
6 sjogren-larsson syndrome 10.9
7 vertebral, cardiac, renal, and limb defects syndrome 2 10.9
8 lung cancer 10.6
9 neuroblastoma 10.5
10 colorectal adenoma 10.3
11 endotheliitis 10.3
12 aging 10.1
13 pancreatitis 10.1
14 hepatitis 10.0
15 neuronitis 10.0
16 pancreatic ductal adenocarcinoma 10.0
17 endometriosis 10.0
18 colorectal cancer 10.0
19 leukemia 10.0
20 alzheimer disease 9.9
21 pancreatic cancer 9.9
22 prostatitis 9.9
23 melanoma 9.9
24 cerebritis 9.9
25 alcoholic hepatitis 9.9
26 prostate cancer 9.9
27 adenocarcinoma 9.9
28 ischemia 9.9
29 hypoxia 9.9
30 bladder cancer 9.8
31 breast cancer 9.8
32 schizophrenia 9.8
33 small cell cancer of the lung 9.8
34 leukemia, acute lymphoblastic 9.8
35 lymphoma 9.8
36 lymphoblastic leukemia 9.8
37 diphtheria 9.8
38 esophagitis 9.8
39 wallerian degeneration 9.8
40 arteries, anomalies of 9.7
41 hepatocellular carcinoma 9.7
42 diabetes mellitus, noninsulin-dependent 9.7
43 microvascular complications of diabetes 3 9.7
44 microvascular complications of diabetes 4 9.7
45 microvascular complications of diabetes 6 9.7
46 microvascular complications of diabetes 7 9.7
47 gastric cancer 9.7
48 coronary artery anomaly 9.7
49 pertussis 9.7
50 retinitis 9.7

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

Publications for Neutrophil Actin Dysfunction

Articles related to Neutrophil Actin Dysfunction:

# Title Authors Year
1
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. ( 10925289 )
2000
2
The 47-kD protein increased in neutrophil actin dysfunction with 47- and 89-kD protein abnormalities is lymphocyte-specific protein. ( 8274738 )
1994
3
Neutrophil actin dysfunction is a genetic disorder associated with partial impairment of neutrophil actin assembly in three family members. ( 3183050 )
1988
4
Neutrophil actin dysfunction and abnormal neutrophil behavior. ( 4609060 )
1974

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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