DSMA3
MCID: SPN355
MIFTS: 33

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 (DSMA3)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 57 44 70
Distal Spinal Muscular Atrophy Type 3 12 58 15
Dsma3 57 12 58
Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive 57 13
Autosomal Recessive Distal Spinal Muscular Atrophy Type 3 12 58
Distal Hereditary Motor Neuropathy Type 3 and Type 4 12 58
Dhmn3 and Dhmn4 12 58
Neuronopathy, Distal Hereditary Motor, Type Iii; Hmn3 57
Distal Spinal Muscular Atrophy, Autosomal Recessive 3 29
Neuronopathy, Distal Hereditary Motor, Type Iv; Hmn4 57
Neuronopathy, Distal Hereditary Motor, Type Iii 57
Neuronopathy, Distal Hereditary Motor, Type Iv 57
Neuropathy, Distal Hereditary Motor, Type Iv 57
Hmn Iii 57
Hmn Iv 57
Dhmn4 57
Dhmn3 57
Hmn4 57
Hmn3 57

Characteristics:

Orphanet epidemiological data:

58
distal spinal muscular atrophy type 3
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
age of onset ranges from infancy to young adulthood (6 months-19 years)


HPO:

31
spinal muscular atrophy, distal, autosomal recessive, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111211
OMIM® 57 607088
MeSH 44 C564626
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 71 C1846823
Orphanet 58 ORPHA139547
MedGen 41 C1846823
UMLS 70 C1846823

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

OMIM® : 57 Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006). (607088) (Updated 20-May-2021)

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3, also known as distal spinal muscular atrophy type 3, is related to spinal muscular atrophy, distal, x-linked 3 and autosomal recessive distal hereditary motor neuronopathy. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 is SMAR (Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Related phenotypes are hyperlordosis and distal lower limb muscle weakness

Disease Ontology : 12 An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has material basis in homozygous mutation in a 2.6-cM region of chromosome 11q13.3.

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:



Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 31 HP:0003307
2 distal lower limb muscle weakness 31 HP:0009053
3 reduced vital capacity 31 HP:0002792
4 diaphragmatic weakness 31 HP:0009113
5 distal amyotrophy 31 HP:0003693
6 emg: neuropathic changes 31 HP:0003445
7 spinal muscular atrophy 31 HP:0007269
8 interosseus muscle atrophy 31 HP:0007181

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
hyperlordosis

Respiratory Lung:
decreased respiratory vital capacity

Neurologic Central Nervous System:
interosseus muscle atrophy
emg shows neurogenic abnormalities
muscle atrophy, distal
muscle weakness, distal limbs, due to neuronopathy
early and severe foot extensor muscle involvement
more
Chest Diaphragm:
diaphragmatic paraparesis

Clinical features from OMIM®:

607088 (Updated 20-May-2021)

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Cochrane evidence based reviews: spinal muscular atrophy, distal, autosomal recessive, 3

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Autosomal Recessive 3 29

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3:

# Title Authors PMID Year
1
Unraveling the genetics of distal hereditary motor neuronopathies. 57
16775372 2006
2
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. 57
15054395 2004
3
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13. 57
12112104 2002
4
Distal spinal muscular atrophy. A clinical and genetic study of 8 kindreds. 57
512678 1979
5
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. 61
32994893 2020

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Pathways related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 GOLIM4 COG8 COG4 COG2
2
Show member pathways
12.08 GOLIM4 COG8 COG4 COG2
3 10.82 COG8 COG4 COG2
4 10.58 GOLIM4 COG8 COG4 COG2

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Cellular components related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.56 GOLIM4 COG8 COG4 COG2
2 Golgi apparatus GO:0005794 9.55 GOLIM4 COG8 COG4 COG2 ATP7A
3 trans-Golgi network membrane GO:0032588 9.13 COG8 COG4 COG2
4 Golgi transport complex GO:0017119 8.8 COG8 COG4 COG2

Biological processes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi organization GO:0007030 9.16 COG4 COG2
2 intra-Golgi vesicle-mediated transport GO:0006891 8.96 COG8 COG2
3 ER to Golgi vesicle-mediated transport GO:0006888 8.8 COG8 COG4 COG2

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

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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