MCID: ANT007
MIFTS: 31

Anterior Horn Cell Disease

Categories: Neuronal diseases

Aliases & Classifications for Anterior Horn Cell Disease

MalaCards integrated aliases for Anterior Horn Cell Disease:

Name: Anterior Horn Cell Disease 12 54 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:4873
ICD9CM 34 335
MeSH 44 D016472
SNOMED-CT 67 267693003
UMLS 70 C0154681

Summaries for Anterior Horn Cell Disease

MalaCards based summary : Anterior Horn Cell Disease is related to pontocerebellar hypoplasia, type 1e and motor neuron disease. An important gene associated with Anterior Horn Cell Disease is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways are Gene Expression and Transport of the SLBP independent Mature mRNA. Affiliated tissues include cerebellum and pons, and related phenotypes are Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) and Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)

Wikipedia : 73 Amyotrophic lateral sclerosis (ALS; also known as Lou Gehrig's disease in Canada and the United States,... more...

Related Diseases for Anterior Horn Cell Disease

Diseases related to Anterior Horn Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 1e 31.7 VRK1 TSEN54 RARS2 EXOSC3
2 motor neuron disease 31.6 VRK1 SMN2 SMN1 HEXA AMPD2
3 muscular atrophy 30.6 VRK1 SMN2 SMN1 IGHMBP2
4 spinal muscular atrophy, type i 30.6 SMN2 SMN1 IGHMBP2
5 spinal muscular atrophy, x-linked 2 30.3 SMN2 SMN1 IGHMBP2
6 pontocerebellar hypoplasia, type 1b 30.2 VRK1 EXOSC3
7 spinal muscular atrophy 30.1 VRK1 SMN2 SMN1 IGHMBP2 HEXA GLE1
8 polyhydramnios 29.9 VRK1 TSEN54 NUP88
9 cerebellar hypoplasia 29.9 TSEN54 RARS2 EXOSC3
10 progressive muscular atrophy 29.9 SMN2 SMN1
11 pontocerebellar hypoplasia 29.7 VRK1 TSEN54 RARS2 EXOSC3 AMPD2
12 lethal congenital contracture syndrome 29.7 SON RAE1 NUP155 GLE1 DDX19B
13 amyotrophic lateral sclerosis 1 29.2 TSEN54 SMN2 SMN1 IGHMBP2 HEXA GLE1
14 lethal congenital contracture syndrome 1 28.1 SON RAE1 NXT1 NUP88 NUP214 NUP155
15 congenital arthrogryposis with anterior horn cell disease 12.0
16 pontocerebellar hypoplasia, type 1a 11.5
17 acquired motor neuron disease 11.3
18 genetic motor neuron disease 11.3
19 spinal muscular atrophy, segmental 11.2
20 spinal muscular atrophy type 0 10.3 SMN2 SMN1
21 pontocerebellar hypoplasia, type 5 10.3 VRK1 TSEN54
22 congenital amyoplasia 10.2
23 lethal congenital contracture syndrome 2 10.2 SON GLE1
24 autosomal recessive distal hereditary motor neuronopathy 10.2 SMN2 SMN1 IGHMBP2
25 proximal spinal muscular atrophy 10.2 SMN2 SMN1
26 spinal muscular atrophy, distal, autosomal recessive, 1 10.2 SMN2 SMN1 IGHMBP2
27 childhood spinal muscular atrophy 10.2 SMN2 SMN1 IGHMBP2
28 ataxia and polyneuropathy, adult-onset 10.2
29 congenital contractures 10.2
30 cerebral atrophy 10.2
31 diaphragmatic eventration 10.1 TSEN54 IGHMBP2
32 spinal muscular atrophy, type ii 10.1 SMN2 SMN1 IGHMBP2
33 spinal muscular atrophy, type iii 10.1 SMN2 SMN1 IGHMBP2
34 neuronopathy, distal hereditary motor, type va 10.1 SMN2 SMN1 IGHMBP2
35 pontocerebellar hypoplasia, type 9 10.1 VRK1 AMPD2
36 spinal muscular atrophy, distal, autosomal recessive, 4 10.1 SMN2 SMN1
37 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.1 SMN2 SMN1 HEXA
38 chronic inflammatory demyelinating polyneuritis 10.1 SMN2 SMN1 HEXA
39 dubowitz syndrome 10.1 SMN2 SMN1
40 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.1 VRK1 TSEN54 EXOSC3
41 tay-sachs disease 10.1 SMN2 SMN1 HEXA
42 spinal muscular atrophy with progressive myoclonic epilepsy 10.0 SMN2 SMN1
43 pontocerebellar hypoplasia, type 6 10.0 TSEN54 RARS2
44 spastic paraplegia 63, autosomal recessive 10.0 EXOSC3 AMPD2
45 peho syndrome 10.0 VRK1 TSEN54 RARS2
46 fetal akinesia deformation sequence 1 10.0
47 3-methylglutaconic aciduria, type iii 10.0
48 yemenite deaf-blind hypopigmentation syndrome 10.0
49 distal arthrogryposis 10.0
50 covid-19 10.0

Graphical network of the top 20 diseases related to Anterior Horn Cell Disease:



Diseases related to Anterior Horn Cell Disease

Symptoms & Phenotypes for Anterior Horn Cell Disease

GenomeRNAi Phenotypes related to Anterior Horn Cell Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.46 NUP88
2 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.46 DDX19B NUP214 NUP88
3 Nuclear 60S biogenesis defects GR00209-A-3 9.26 GLE1 NUP214 NUP88 RAE1
4 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.8 NUP155 NUP214 NUP88

MGI Mouse Phenotypes related to Anterior Horn Cell Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 AMPD2 EXOSC3 GLE1 HEXA IGHMBP2 NUP155

Drugs & Therapeutics for Anterior Horn Cell Disease

Search Clinical Trials , NIH Clinical Center for Anterior Horn Cell Disease

Genetic Tests for Anterior Horn Cell Disease

Anatomical Context for Anterior Horn Cell Disease

MalaCards organs/tissues related to Anterior Horn Cell Disease:

40
Cerebellum, Pons

Publications for Anterior Horn Cell Disease

Articles related to Anterior Horn Cell Disease:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype. 54 61
12220455 2002
2
Curious case of steroid responsive diffuse anterior horn cell disease associated with COVID-19 infection. 61
33751257 2021
3
Assessment of Emergency Department and Inpatient Use and Costs in Adult and Pediatric Functional Neurological Disorders. 61
33104173 2021
4
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. 61
32537934 2020
5
The Presence and Significance of A-Waves-A Retrospective Review of 679 Patients. 61
32756267 2020
6
Acute flaccid myelitis caused by enterovirus D68: Case definitions for use in clinical practice. 61
30670331 2019
7
Reversible spontaneous EMG activity during myasthenic crisis: Two case reports. 61
30555945 2019
8
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia. 61
30504431 2019
9
Acute Flaccid Paralysis and Enteroviral Infections. 61
29959591 2018
10
Electromyography in Pediatric Population. 61
30042639 2018
11
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. 61
28657126 2018
12
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. 61
28729373 2017
13
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 61
28884921 2017
14
Survival of a child with spinal muscular atrophy and acute respiratory distress syndrome. 61
25866361 2015
15
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 61
25343993 2015
16
Hirayama disease with juvenile myoclonic epilepsy: A case report. 61
25221414 2014
17
Neuronatin gene: Imprinted and misfolded: Studies in Lafora disease, diabetes and cancer may implicate NNAT-aggregates as a common downstream participant in neuronal loss. 61
24345642 2014
18
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. 61
24275432 2014
19
Brachial amyotrophic diparesis associated with anti-Hu positive anterior horn cell disease and autonomic disorder. 61
23135291 2013
20
Clinical and radiological profile of Hirayama disease: A flexion myelopathy due to tight cervical dural canal amenable to collar therapy. 61
22566723 2012
21
[Treatment of foot drop in orthopaedic practice]. 61
23289258 2012
22
Fasciculation-cramp syndrome preceding anterior horn cell disease: an intermediate syndrome? 61
20587485 2011
23
Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification. 61
20809097 2011
24
Electrophysiologic evidence for anterior horn cell disease in amyoplasia. 61
20610128 2010
25
The accuracy of discharge diagnosis coding for Amyotrophic Lateral Sclerosis in a large teaching hospital. 61
19657715 2009
26
Foot drop: where, why and what to do? 61
18502948 2008
27
Cerebral palsy masking spinal muscular atrophy. 61
21791763 2008
28
Motor neuronopathy with dropped hands and downbeat nystagmus: a distinctive disorder? A case report. 61
16409626 2006
29
Adult cavovarus foot. 61
16148356 2005
30
Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity. 61
15832356 2005
31
HTLV-1 Associated Motor Neuron Disease Mimicking "Man-in-the-Barrel" Syndrome. 61
19078761 2005
32
HIV-1 clade-C-associated "ALS"-like disorder: first report from India. 61
15450778 2004
33
Vialetto-Van Laere syndrome in two sisters born to consanguineous parents. 61
15165639 2004
34
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 61
14681881 2003
35
The changing role of pediatric electrodiagnosis. 61
12795524 2003
36
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. 61
12548734 2003
37
Do we consider Andermann syndrome in infants with agenesis of corpus callosum. 61
12872822 2003
38
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. 61
12872823 2003
39
Spinal muscular atrophy with congenital fractures: postmortem analysis. 61
12503655 2002
40
Cerebellar ataxia, anterior horn cell disease, learning difficulties, and dystonia: a new syndrome. 61
11104351 2000
41
Anterior horn cell disease and olivopontocerebellar hypoplasia. 61
11020648 2000
42
Nonparalytic polio and postpolio syndrome. 61
10678597 2000
43
Asian paralysis syndrome. 61
10716023 1999
44
Somatosensory evoked potentials in X-linked recessive bulbospinal neuronopathy: a case demonstration. 61
10546074 1999
45
[Cerebral agyria-pachygyria in a child with Werdnig-Hoffmann disease]. 61
10486849 1999
46
Familial pontocerebellar hypoplasia type I with anterior horn cell disease. 61
10727190 1999
47
Madras pattern of motor neuron disease: case report from Thailand. 61
8855616 1996
48
[Contribution of the electromyogram in the diagnosis of infantile spinal muscular atrophy in the neonatal period]. 61
8762951 1996
49
Acute anterior horn cell disease resembling poliomyelitis as a manifestation of respiratory syncytial virus infection. 61
8558137 1996
50
Amyotrophic lateral sclerosis and polio: is there an association? 61
7611634 1995

Variations for Anterior Horn Cell Disease

Expression for Anterior Horn Cell Disease

Search GEO for disease gene expression data for Anterior Horn Cell Disease.

Pathways for Anterior Horn Cell Disease

Pathways related to Anterior Horn Cell Disease according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 TSEN54 SMN2 SMN1 RARS2 RAE1 NXT1
2
Show member pathways
12.93 VRK1 SMN2 SMN1 RAE1 NUP88 NUP214
3
Show member pathways
12.61 RAE1 NUP88 NUP214 NUP155 HEXA
4
Show member pathways
12.47 RAE1 NUP88 NUP214 NUP155
5
Show member pathways
12.45 VRK1 RAE1 NUP88 NUP214 NUP155
6
Show member pathways
12.34 RAE1 NUP88 NUP214 NUP155
7
Show member pathways
12.29 RAE1 NUP88 NUP214 NUP155
8
Show member pathways
11.94 RAE1 NUP88 NUP214 NUP155
9
Show member pathways
11.92 TSEN54 RAE1 NUP88 NUP214 NUP155
10 11.64 NXT1 GLE1 DDX19B
11
Show member pathways
11.57 RAE1 NXT1 NUP88 NUP214 NUP155
12
Show member pathways
11.56 RAE1 NUP88 NUP214 NUP155
13 11.55 SMN2 SMN1 RAE1 NXT1 NUP88 NUP214

GO Terms for Anterior Horn Cell Disease

Cellular components related to Anterior Horn Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 VRK1 TSEN54 SON SMN2 SMN1 RAE1
2 nucleoplasm GO:0005654 10.06 VRK1 TSEN54 SMN2 SMN1 RAE1 NXT1
3 nuclear envelope GO:0005635 9.55 RAE1 NUP214 NUP155 GLE1 DDX19B
4 SMN-Sm protein complex GO:0034719 9.46 SMN2 SMN1
5 Gemini of coiled bodies GO:0097504 9.43 SMN2 SMN1
6 SMN complex GO:0032797 9.4 SMN2 SMN1
7 nuclear pore cytoplasmic filaments GO:0044614 9.37 NUP214 GLE1
8 host cell GO:0043657 9.26 RAE1 NUP88 NUP214 NUP155
9 nuclear pore GO:0005643 9.17 RAE1 NXT1 NUP88 NUP214 NUP155 GLE1

Biological processes related to Anterior Horn Cell Disease according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.97 NXT1 NUP88 NUP214 NUP155 GLE1
2 mRNA processing GO:0006397 9.89 TSEN54 SON SMN2 SMN1
3 viral transcription GO:0019083 9.81 RAE1 NUP88 NUP214 NUP155
4 mRNA transport GO:0051028 9.8 NUP88 NUP214 NUP155 GLE1
5 protein import into nucleus GO:0006606 9.76 NXT1 NUP88 NUP214 NUP155
6 regulation of gene silencing by miRNA GO:0060964 9.73 RAE1 NUP88 NUP214 NUP155
7 regulation of cellular response to heat GO:1900034 9.71 RAE1 NUP88 NUP214 NUP155
8 nucleocytoplasmic transport GO:0006913 9.7 NXT1 NUP88 NUP155
9 protein sumoylation GO:0016925 9.67 RAE1 NUP88 NUP214 NUP155
10 poly(A)+ mRNA export from nucleus GO:0016973 9.65 NUP214 GLE1 DDX19B
11 RNA export from nucleus GO:0006405 9.62 RAE1 NXT1 NUP214 NUP155
12 protein export from nucleus GO:0006611 9.61 NXT1 NUP214
13 spliceosomal snRNP assembly GO:0000387 9.61 SMN2 SMN1
14 spliceosomal complex assembly GO:0000245 9.6 SMN2 SMN1
15 import into nucleus GO:0051170 9.58 SMN2 SMN1
16 DNA-templated transcription, termination GO:0006353 9.57 SMN2 SMN1
17 ribosomal small subunit export from nucleus GO:0000056 9.56 NUP88 NUP214
18 intracellular transport of virus GO:0075733 9.56 RAE1 NUP88 NUP214 NUP155
19 ribosomal large subunit export from nucleus GO:0000055 9.55 NUP88 NUP214
20 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.54 RAE1 NUP155
21 regulation of glycolytic process GO:0006110 9.46 RAE1 NUP88 NUP214 NUP155
22 tRNA export from nucleus GO:0006409 9.26 RAE1 NUP88 NUP214 NUP155
23 mRNA export from nucleus GO:0006406 9.17 RAE1 NXT1 NUP88 NUP214 NUP155 GLE1

Molecular functions related to Anterior Horn Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.09 VRK1 TSEN54 SON SMN2 SMN1 RARS2
2 RNA binding GO:0003723 9.56 SON SMN2 SMN1 RARS2 RAE1 IGHMBP2
3 structural constituent of nuclear pore GO:0017056 8.8 NUP88 NUP214 NUP155

Sources for Anterior Horn Cell Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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