MCID: ATS425
MIFTS: 20

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Distal Hereditary Motor Neuronopathy

MalaCards integrated aliases for Autosomal Recessive Distal Hereditary Motor Neuronopathy:

Name: Autosomal Recessive Distal Hereditary Motor Neuronopathy 12 15
Autosomal Recessive Distal Spinal Muscular Atrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111197

Summaries for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Disease Ontology : 12 A spinal muscular atrophy that has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Distal Hereditary Motor Neuronopathy, also known as autosomal recessive distal spinal muscular atrophy, is related to spinal muscular atrophy, distal, autosomal recessive, 3 and spinal muscular atrophy, distal, autosomal recessive, 2. An important gene associated with Autosomal Recessive Distal Hereditary Motor Neuronopathy is SMAR (Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive), and among its related pathways/superpathways is RNA transport.

Related Diseases for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Diseases in the Autosomal Dominant Distal Hereditary Motor Neuronopathy family:

Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Iia
Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Viii
Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Viib
Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic
Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Iid
Neuronopathy, Distal Hereditary Motor, Type Ix Neuronopathy, Distal Hereditary Motor, Type Vc
Autosomal Recessive Distal Hereditary Motor Neuronopathy Distal Hereditary Motor Neuronopathy Type 7
Distal Hereditary Motor Neuronopathy Type 2

Diseases related to Autosomal Recessive Distal Hereditary Motor Neuronopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 3 32.5 SMAR ATP7A
2 spinal muscular atrophy, distal, autosomal recessive, 2 32.2 REEP1 GARS1
3 spinal muscular atrophy, distal, autosomal recessive, 4 32.1 SMN2 SMN1 SETX PLEKHG5
4 neuronopathy, distal hereditary motor, type va 31.4 SMN2 SMN1 REEP1 PLEKHG5 IGHMBP2 GARS1
5 spinal muscular atrophy, distal, autosomal recessive, 1 28.8 UPF1 SPATA5L1 SMN2 SMN1 SETX REEP1
6 spinal muscular atrophy, distal, autosomal recessive, 5 11.4
7 autosomal recessive distal hereditary motor neuropathy 11.4
8 spinal muscular atrophy type 0 10.3 SMN2 SMN1
9 neonatal myasthenia gravis 10.3 LAS1L IGHMBP2
10 charcot-marie-tooth hereditary neuropathy 10.3 IGHMBP2 GARS1
11 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 SMN2 SMN1
12 distal hereditary motor neuropathies 10.3 SETX GARS1
13 chronic inflammatory demyelinating polyneuritis 10.3 SMN2 SMN1
14 diaphragmatic eventration 10.2 LAS1L IGHMBP2
15 spinal muscular atrophy, type i 10.2 SMN2 SMN1 IGHMBP2
16 spinal muscular atrophy, type ii 10.2 SMN2 SMN1 IGHMBP2
17 dubowitz syndrome 10.2 SMN2 SMN1
18 spinal muscular atrophy, x-linked 2 10.2 SMN2 SMN1 IGHMBP2
19 scapuloperoneal spinal muscular atrophy 10.2 IGHMBP2 GARS1
20 anterior horn cell disease 10.2 SMN2 SMN1 IGHMBP2
21 spinal muscular atrophy with progressive myoclonic epilepsy 10.2 SMN2 SMN1
22 childhood spinal muscular atrophy 10.2 SMN2 SMN1 IGHMBP2
23 proximal spinal muscular atrophy 10.2 SMN2 SMN1 SETX
24 progressive muscular atrophy 10.2 SMN2 SMN1
25 spinal muscular atrophy with lower extremity predominance 10.2 SETX IGHMBP2 GARS1
26 mitochondrial dna depletion syndrome 2 10.2 MORC2 LAS1L
27 amyotrophic lateral sclerosis 4, juvenile 10.1 UPF1 SETX IGHMBP2
28 neuronopathy, distal hereditary motor, type iib 10.1 MORC2 IGHMBP2 GARS1
29 mitochondrial dna depletion syndrome 3 10.1 MORC2 LAS1L
30 juvenile amyotrophic lateral sclerosis 10.1 SETX PLEKHG5
31 distal hereditary motor neuronopathy type 2 10.0 IGHMBP2 GARS1
32 axonal neuropathy 10.0 SETX MORC2 GARS1
33 spinal muscular atrophy, type iii 10.0 SMN2 SMN1 IGHMBP2 ATP7A
34 spinal muscular atrophy, type iv 10.0 SMN2 SMN1
35 distal hereditary motor neuronopathy type 7 9.9 REEP1 PLEKHG5
36 autosomal dominant distal hereditary motor neuronopathy 9.9 REEP1 IGHMBP2 GARS1
37 neuromuscular disease 9.9 SMN2 SMN1 MORC2 IGHMBP2 GARS1
38 charcot-marie-tooth disease, axonal, type 2e 9.8 SMN2 SMN1 MORC2 IGHMBP2 GARS1
39 motor neuron disease 9.8 SMN2 SMN1 SETX PLEKHG5 LAS1L GARS1
40 tooth disease 9.7 PLEKHG5 MORC2 IGHMBP2 GARS1 ATP7A
41 motor peripheral neuropathy 9.7 SETX REEP1 IGHMBP2 GARS1
42 muscular atrophy 9.4 SMN2 SMN1 SETX PLEKHG5 MORC2 IGHMBP2
43 spinal muscular atrophy 9.2 UPF1 SMN2 SMN1 SETX PLEKHG5 MORC2
44 charcot-marie-tooth disease 9.0 SMN2 SETX REEP1 PLEKHG5 MORC2 IGHMBP2

Graphical network of the top 20 diseases related to Autosomal Recessive Distal Hereditary Motor Neuronopathy:



Diseases related to Autosomal Recessive Distal Hereditary Motor Neuronopathy

Symptoms & Phenotypes for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Drugs & Therapeutics for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Genetic Tests for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Anatomical Context for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Publications for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Articles related to Autosomal Recessive Distal Hereditary Motor Neuronopathy:

# Title Authors PMID Year
1
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. 61
12112104 2002
2
Distal Hereditary Motor Neuronopathy of the Jerash Type. 61
29086969 1999
3
Distal hereditary motor neuronopathy of the Jerash type. 61
10586232 1999

Variations for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Expression for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Search GEO for disease gene expression data for Autosomal Recessive Distal Hereditary Motor Neuronopathy.

Pathways for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Pathways related to Autosomal Recessive Distal Hereditary Motor Neuronopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.07 UPF1 SMN2 SMN1

GO Terms for Autosomal Recessive Distal Hereditary Motor Neuronopathy

Cellular components related to Autosomal Recessive Distal Hereditary Motor Neuronopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.88 SMN2 SMN1 SETX PLEKHG5 IGHMBP2 GARS1
2 cytoplasm GO:0005737 9.8 UPF1 SPATA5L1 SMN2 SMN1 SETX REEP1
3 nuclear body GO:0016604 9.62 SMN2 SMN1 SETX IGHMBP2
4 perikaryon GO:0043204 9.61 SMN2 SMN1 ATP7A
5 SMN-Sm protein complex GO:0034719 9.37 SMN2 SMN1
6 Gemini of coiled bodies GO:0097504 9.26 SMN2 SMN1
7 SMN complex GO:0032797 9.16 SMN2 SMN1
8 axon GO:0030424 9.1 SMN2 SMN1 SETX PLEKHG5 IGHMBP2 GARS1

Biological processes related to Autosomal Recessive Distal Hereditary Motor Neuronopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
2 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
3 import into nucleus GO:0051170 8.96 SMN2 SMN1
4 DNA-templated transcription, termination GO:0006353 8.8 SMN2 SMN1 SETX

Molecular functions related to Autosomal Recessive Distal Hereditary Motor Neuronopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.7 UPF1 SMN2 SMN1 SETX LAS1L IGHMBP2
2 nucleotide binding GO:0000166 9.61 UPF1 SPATA5L1 SETX MORC2 MAP4K4 IGHMBP2
3 helicase activity GO:0004386 9.43 UPF1 SETX IGHMBP2
4 ATP binding GO:0005524 9.28 UPF1 SPATA5L1 SETX MORC2 MAP4K4 IGHMBP2

Sources for Autosomal Recessive Distal Hereditary Motor Neuronopathy

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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