MCID: ATS425
MIFTS: 19

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, 2 and spinal muscular atrophy, distal, autosomal recessive, 3. An important gene associated with Autosomal Recessive Distal Hereditary Motor Neuronopathy is SMAR (Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive).

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 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, distal, autosomal recessive, 2 33.0 REEP1 GARS1
2 spinal muscular atrophy, distal, autosomal recessive, 3 32.5 SMAR ATP7A
3 neuronopathy, distal hereditary motor, type va 32.2 SMN2 SMN1 REEP1 IGHMBP2 GARS1
4 spinal muscular atrophy, distal, autosomal recessive, 1 28.1 UPF1 SPATA5L1 SMN2 SMN1 SETX REEP1
5 spinal muscular atrophy, distal, autosomal recessive, 5 11.6
6 autosomal recessive distal hereditary motor neuropathy 11.6
7 spinal muscular atrophy, distal, autosomal recessive, 4 11.5
8 neonatal myasthenia gravis 10.4 LAS1L IGHMBP2
9 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.4 SMN2 SMN1
10 genetic motor neuron disease 10.4 SETX GARS1
11 amelogenesis imperfecta, type ia 10.3 SMN2 SMN1
12 mitochondrial dna depletion syndrome 2 10.3 MORC2 LAS1L
13 anterior horn cell disease 10.3 SMN2 SMN1 IGHMBP2
14 childhood spinal muscular atrophy 10.3 SMN2 SMN1 IGHMBP2
15 spinal muscular atrophy, type i 10.3 SMN2 SMN1 IGHMBP2
16 spinal muscular atrophy, type ii 10.3 SMN2 SMN1 IGHMBP2
17 spinal muscular atrophy, type iii 10.3 SMN2 SMN1 IGHMBP2
18 scapuloperoneal spinal muscular atrophy 10.3 IGHMBP2 GARS1
19 diaphragmatic eventration 10.3 LAS1L IGHMBP2
20 proximal spinal muscular atrophy 10.3 SMN2 SMN1 SETX
21 spinal muscular atrophy with lower extremity predominance 10.3 SETX IGHMBP2 GARS1
22 dubowitz syndrome 10.2 SMN2 SMN1
23 neuronopathy, distal hereditary motor, type iib 10.2 MORC2 IGHMBP2 GARS1
24 spinal muscular atrophy with progressive myoclonic epilepsy 10.2 SMN2 SMN1
25 amyotrophic lateral sclerosis type 15 10.2 SETX ALS2
26 amyotrophic lateral sclerosis type 14 10.2 SETX ALS2
27 amyotrophic lateral sclerosis 7 10.2 SETX ALS2
28 progressive muscular atrophy 10.2 SMN2 SMN1
29 amyotrophic lateral sclerosis 18 10.1 SETX ALS2
30 amyotrophic lateral sclerosis 17 10.1 SETX ALS2
31 amyotrophic lateral sclerosis 21 10.1 SETX ALS2
32 amyotrophic lateral sclerosis 16, juvenile 10.1 SETX ALS2
33 amyotrophic lateral sclerosis type 5 10.1 SETX ALS2
34 amyotrophic lateral sclerosis 12 10.1 SETX ALS2
35 amyotrophic lateral sclerosis 11 10.1 SETX ALS2
36 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.1 SETX ALS2
37 amyotrophic lateral sclerosis 9 10.1 SETX ALS2
38 peripheral nervous system disease 10.1 SMN2 SMN1 SETX GARS1
39 distal hereditary motor neuronopathy type 7 10.1 REEP1 ALS2
40 juvenile amyotrophic lateral sclerosis 10.0 SETX ALS2
41 spastic paraplegia 57, autosomal recessive 10.0 REEP1 ALS2
42 charcot-marie-tooth hereditary neuropathy 10.0 SETX MORC2 IGHMBP2 GARS1
43 distal hereditary motor neuropathies 10.0 SETX MORC2 IGHMBP2 GARS1
44 amyotrophic lateral sclerosis type 6 10.0 SETX ALS2
45 motor peripheral neuropathy 9.9 SETX REEP1 IGHMBP2 GARS1
46 amyotrophic lateral sclerosis 4, juvenile 9.8 UPF1 SETX IGHMBP2 ALS2
47 amyotrophic lateral sclerosis 8 9.8 SETX ALS2
48 spastic paraplegia 17, autosomal dominant 9.8 REEP1 GARS1
49 neuromuscular disease 9.7 SMN2 SMN1 IGHMBP2 GARS1 ALS2
50 motor neuron disease 9.7 SMN2 SMN1 SETX GARS1 ALS2

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

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 cytoplasm GO:0005737 9.8 UPF1 SPATA5L1 SMN2 SMN1 SETX REEP1
2 perikaryon GO:0043204 9.58 SMN2 SMN1 ATP7A
3 growth cone GO:0030426 9.54 SETX IGHMBP2 ALS2
4 SMN-Sm protein complex GO:0034719 9.32 SMN2 SMN1
5 Gemini of coiled bodies GO:0097504 9.26 SMN2 SMN1
6 SMN complex GO:0032797 9.16 SMN2 SMN1
7 axon GO:0030424 9.1 SMN2 SMN1 SETX IGHMBP2 GARS1 ALS2

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 9.32 SMN2 SMN1
2 spliceosomal complex assembly GO:0000245 9.26 SMN2 SMN1
3 import into nucleus GO:0051170 9.16 SMN2 SMN1
4 neuron projection morphogenesis GO:0048812 9.13 MAP4K4 ATP7A ALS2
5 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 9.86 UPF1 SMN2 SMN1 SETX LAS1L IGHMBP2
2 nucleotide binding GO:0000166 9.65 UPF1 SPATA5L1 SETX MORC2 MAP4K4 IGHMBP2
3 RNA helicase activity GO:0003724 9.5 UPF1 IGHMBP2 DDX27
4 helicase activity GO:0004386 9.46 UPF1 SETX IGHMBP2 DDX27
5 ATP binding GO:0005524 9.32 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....