MCID: ANT007
MIFTS: 22

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 56 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:4873
ICD9CM 36 335 335.9
MeSH 45 D016472
SNOMED-CT 69 85672005
UMLS 74 C0154681

Summaries for Anterior Horn Cell Disease

MalaCards based summary : Anterior Horn Cell Disease is related to congenital contractures and proximal spinal muscular atrophy. An important gene associated with Anterior Horn Cell Disease is GLE1 (GLE1 RNA Export Mediator).

Wikipedia : 77 Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig''s disease,... 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 all 33)
# Related Disease Score Top Affiliating Genes
1 congenital contractures 30.1 UBA1 VRK1
2 proximal spinal muscular atrophy 30.1 SMN1 SMN2
3 spinal muscular atrophy 29.4 IGHMBP2 SMN1 SMN2 UBA1 VRK1
4 congenital arthrogryposis with anterior horn cell disease 12.9
5 pontocerebellar hypoplasia, type 1a 11.5
6 pontocerebellar hypoplasia type 1 11.4
7 spinal muscular atrophy, segmental 11.2
8 spinal muscular atrophy, type iv 10.2 SMN1 SMN2
9 arthrogryposis multiplex congenita, neurogenic type 10.2 SMN1 SMN2
10 spinal muscular atrophy, type iii 10.2 SMN1 SMN2
11 spinal muscular atrophy, type ii 10.2 SMN1 SMN2
12 culler-jones syndrome 10.2 SMN1 SMN2
13 juvenile spinal muscular atrophy 10.2 SMN1 SMN2
14 spinal disease 10.2 SMN1 SMN2
15 progressive muscular atrophy 10.1 SMN1 SMN2
16 pontocerebellar hypoplasia 10.1
17 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 IGHMBP2 SMN1 SMN2
18 lethal congenital contracture syndrome 1 9.9 FUS GLE1 LOC101929270 SON
19 juvenile amyotrophic lateral sclerosis 9.9 FUS IGHMBP2
20 cerebellar hypoplasia 9.9
21 aceruloplasminemia 9.9
22 lethal congenital contracture syndrome 9.9
23 poliomyelitis 9.9
24 dystonia 9.9
25 tremor 9.9
26 motor neuron disease 9.9 FUS SMN1 SMN2
27 survival motor neuron spinal muscular atrophy 9.9 IGHMBP2 SMN1 SMN2 VRK1
28 spinal muscular atrophy, type i 9.9 IGHMBP2 SMN1 SMN2 VRK1
29 amyotrophic lateral sclerosis 1 9.8 FUS GLE1 SMN1 SMN2
30 tay-sachs disease 9.8 HHEX SMN1
31 muscular disease 9.7 IGHMBP2 LDB3 SMN1 SMN2
32 focal hand dystonia 9.7 CAMP FUS
33 muscular atrophy 9.7 IGHMBP2 SMN1 SMN2 UBA1 VRK1

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

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

Publications for Anterior Horn Cell Disease

Articles related to Anterior Horn Cell Disease:

(show all 17)
# Title Authors Year
1
Brachial amyotrophic diparesis associated with anti-Hu positive anterior horn cell disease and autonomic disorder. ( 23135291 )
2013
2
Fasciculation-cramp syndrome preceding anterior horn cell disease: an intermediate syndrome? ( 20587485 )
2011
3
Electrophysiologic evidence for anterior horn cell disease in amyoplasia. ( 20610128 )
2010
4
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. ( 12872823 )
2003
5
Anterior horn cell disease and olivopontocerebellar hypoplasia. ( 11020648 )
2000
6
Cerebellar ataxia, anterior horn cell disease, learning difficulties, and dystonia: a new syndrome. ( 11104351 )
2000
7
Familial pontocerebellar hypoplasia type I with anterior horn cell disease. ( 10727190 )
1999
8
Acute anterior horn cell disease resembling poliomyelitis as a manifestation of respiratory syncytial virus infection. ( 8558137 )
1996
9
Lethal arthrogryposis with anterior horn cell disease. ( 7821908 )
1995
10
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ( 7897624 )
1995
11
Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. ( 874513 )
1977
12
Plasma lactate in anterior horn cell disease. ( 950572 )
1976
13
Anterior horn cell disease seen in South India. ( 1206426 )
1975
14
Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis. ( 1227532 )
1975
15
Progressive anterior horn cell disease. ( 5112265 )
1971
16
Comparison of physiological tremor and tremor in patients with anterior horn cell disease. ( 5772806 )
1969
17
Treatment of anterior horn cell disease. ( 5906963 )
1966

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

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 Z disc GO:0030018 9.54 LDB3 SMN1 SMN2
2 perikaryon GO:0043204 9.5 FUS SMN1 SMN2
3 SMN-Sm protein complex GO:0034719 9.4 SMN1 SMN2
4 cytoplasm GO:0005737 9.36 AHI1 FUS GLE1 HHEX IGHMBP2 LDB3
5 cell projection GO:0042995 9.35 AHI1 IGHMBP2 LDB3 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 9.26 SMN1 SMN2
7 SMN complex GO:0032797 9.16 SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
3 import into nucleus GO:0051170 9.16 SMN1 SMN2
4 poly(A)+ mRNA export from nucleus GO:0016973 8.96 GLE1 HHEX
5 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 AHI1 FUS GLE1 SMN1 SMN2
2 RNA binding GO:0003723 9.1 FUS IGHMBP2 SMN1 SMN2 SON UBA1

Sources for Anterior Horn Cell Disease

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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