MCID: ANT007
MIFTS: 25

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 55 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:4873
ICD9CM 35 335 335.9
MeSH 44 D016472
SNOMED-CT 68 85672005
UMLS 73 C0154681

Summaries for Anterior Horn Cell Disease

MalaCards based summary : Anterior Horn Cell Disease is related to lethal arthrogryposis with anterior horn cell disease and congenital contractures. An important gene associated with Anterior Horn Cell Disease is GLE1 (GLE1, RNA Export Mediator). Affiliated tissues include brain, and related phenotype is muscle.

Wikipedia : 76 Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND), or Lou Gehrig''s... 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 44)
# Related Disease Score Top Affiliating Genes
1 lethal arthrogryposis with anterior horn cell disease 34.7 GLE1 LOC101929270
2 congenital contractures 30.1 UBA1 VRK1
3 pontocerebellar hypoplasia, type 1a 11.5
4 pontocerebellar hypoplasia type 1 11.3
5 spinal muscular atrophy, segmental 11.1
6 spinal muscular atrophy, type iv 10.2 SMN1 SMN2
7 arthrogryposis multiplex congenita, neurogenic type 10.2 SMN1 SMN2
8 spinal muscular atrophy, type iii 10.2 SMN1 SMN2
9 spinal muscular atrophy, type ii 10.2 SMN1 SMN2
10 culler-jones syndrome 10.2 SMN1 SMN2
11 juvenile spinal muscular atrophy 10.2 SMN1 SMN2
12 spinal disease 10.2 SMN1 SMN2
13 proximal spinal muscular atrophy 10.2 SMN1 SMN2
14 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 IGHMBP2 SMN1 SMN2
15 pontocerebellar hypoplasia 10.1
16 survival motor neuron spinal muscular atrophy 10.0 IGHMBP2 SMN1 SMN2 VRK1
17 spinal muscular atrophy, type i 10.0 IGHMBP2 SMN1 SMN2 VRK1
18 peripheral nervous system disease 10.0 DOK7 SMN1 SMN2
19 focal hand dystonia 10.0 CAMP FUS
20 expressive language disorder 9.9 FUS TARDBP
21 amyotrophic lateral sclerosis type 6 9.9 FUS TARDBP
22 cerebellar hypoplasia 9.9
23 aceruloplasminemia 9.9
24 lethal congenital contracture syndrome 9.9
25 poliomyelitis 9.9
26 dystonia 9.9
27 viral infectious disease 9.9
28 tremor 9.9
29 progressive muscular atrophy 9.9 SMN1 SMN2 TARDBP
30 spinal muscular atrophy 9.9 IGHMBP2 SMN1 SMN2 UBA1 VRK1
31 muscular atrophy 9.9 IGHMBP2 SMN1 SMN2 UBA1 VRK1
32 amyotrophic lateral sclerosis 18 9.9 FUS TARDBP
33 nervous system disease 9.9 SMN1 SMN2 TARDBP
34 amyotrophic lateral sclerosis type 14 9.9 FUS TARDBP
35 juvenile amyotrophic lateral sclerosis 9.9 FUS IGHMBP2
36 amyotrophic lateral sclerosis 21 9.9 FUS TARDBP
37 amyotrophic lateral sclerosis 11 9.9 FUS TARDBP
38 amyotrophic lateral sclerosis 7 9.8 FUS TARDBP
39 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.8 FUS TARDBP
40 amyotrophic lateral sclerosis 9 9.8 FUS TARDBP
41 motor neuron disease 9.7 FUS SMN1 SMN2 TARDBP
42 lethal congenital contracture syndrome 1 9.7 FUS GLE1 LOC101929270 SON TARDBP
43 amyotrophic lateral sclerosis 1 9.6 FUS GLE1 SMN1 SMN2 TARDBP
44 muscular disease 9.4 DOK7 IGHMBP2 LDB3 SMN1 SMN2 TARDBP

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

MGI Mouse Phenotypes related to Anterior Horn Cell Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 DOK7 HHEX IGHMBP2 LDB3 SMN2 TARDBP

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:

41
Brain

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
Cerebellar ataxia, anterior horn cell disease, learning difficulties, and dystonia: a new syndrome. ( 11104351 )
2000
6
Anterior horn cell disease and olivopontocerebellar hypoplasia. ( 11020648 )
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 congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ( 7897624 )
1995
10
Lethal arthrogryposis with anterior horn cell disease. ( 7821908 )
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
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
14
Anterior horn cell disease seen in South India. ( 1206426 )
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 9.58 LDB3 SMN1 SMN2
2 perikaryon GO:0043204 9.54 FUS SMN1 SMN2
3 cytoplasm GO:0005737 9.44 AHI1 CAMP FUS GLE1 HHEX IGHMBP2
4 cell projection GO:0042995 9.43 AHI1 CAMP IGHMBP2 LDB3 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.32 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 mRNA processing GO:0006397 9.56 SMN1 SMN2 SON TARDBP
2 spliceosomal snRNP assembly GO:0000387 9.4 SMN1 SMN2
3 spliceosomal complex assembly GO:0000245 9.37 SMN1 SMN2
4 import into nucleus GO:0051170 9.32 SMN1 SMN2
5 RNA splicing GO:0008380 9.26 SMN1 SMN2 SON TARDBP
6 poly(A)+ mRNA export from nucleus GO:0016973 9.16 GLE1 HHEX
7 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 9.43 AHI1 FUS GLE1 SMN1 SMN2 TARDBP
2 RNA binding GO:0003723 9.17 FUS IGHMBP2 SMN1 SMN2 SON TARDBP

Sources for Anterior Horn Cell Disease

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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