SMA4
MCID: SPN398
MIFTS: 37

Spinal Muscular Atrophy, Type Iv (SMA4)

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

Aliases & Classifications for Spinal Muscular Atrophy, Type Iv

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Iv:

Name: Spinal Muscular Atrophy, Type Iv 58 12 74
Spinal Muscular Atrophy, Adult Form 58 12 54 60
Spinal Muscular Atrophy Type 4 54 30 6
Spinal Muscular Atrophy 4 54 76 74
Sma4 58 60 76
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive 58 54
Adult Spinal Muscular Atrophy 12 15
Spinal Muscular Atrophy-4 58 13
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive 76
Proximal Spinal Muscular Atrophy Type 4 60
Adult-Onset Spinal Muscular Atrophy 54
Spinal Muscular Atrophy Adult Form 76
Atrophy, Muscular, Spinal, Type Iv 41
Spinal Muscular Atrophy Type Iv 76
Myelopathic Muscular Atrophy 74
Sma Type Iv 60
Sma Type 4 60
Sma-Iv 60
Sma Iv 76
Sma 4 54

Characteristics:

Orphanet epidemiological data:

60
proximal spinal muscular atrophy type 4
Inheritance: Autosomal recessive; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 35 years (range 20-60)
slow disease progression
allelic disorder to spinal muscular atrophy type i


HPO:

33
spinal muscular atrophy, type iv:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050529
OMIM 58 271150
MeSH 45 D009134
ICD10 via Orphanet 35 G12.1
UMLS via Orphanet 75 C1838230
Orphanet 60 ORPHA83420
MedGen 43 C1838230

Summaries for Spinal Muscular Atrophy, Type Iv

UniProtKB/Swiss-Prot : 76 Spinal muscular atrophy 4: An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is in adulthood, disease progression is slow, and patients can stand and walk.

MalaCards based summary : Spinal Muscular Atrophy, Type Iv, also known as spinal muscular atrophy, adult form, is related to spinal muscular atrophy, type i and spinal muscular atrophy, type iii, and has symptoms including tremor of hands An important gene associated with Spinal Muscular Atrophy, Type Iv is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is RNA transport. Affiliated tissues include spinal cord and tongue, and related phenotypes are areflexia of lower limbs and proximal muscle weakness

Disease Ontology : 12 A survival motor neuron spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has material basis in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons.

Description from OMIM: 271150

Related Diseases for Spinal Muscular Atrophy, Type Iv

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Iii
Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iv
Juvenile Spinal Muscular Atrophy Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type i 32.0 SMN1 SMN2
2 spinal muscular atrophy, type iii 31.9 SMN1 SMN2
3 proximal spinal muscular atrophy 31.7 SMN1 SMN2
4 spinal muscular atrophy 29.6 SMN1 SMN2 VAPB
5 muscular atrophy 29.6 SMN1 SMN2 VAPB
6 spinal muscular atrophy, distal, autosomal recessive, 4 11.5
7 spinal muscular atrophy, late-onset, finkel type 11.1
8 survival motor neuron spinal muscular atrophy 10.1 SMN1 SMN2
9 arthrogryposis multiplex congenita, neurogenic type 10.0 SMN1 SMN2
10 spinal muscular atrophy, type ii 10.0 SMN1 SMN2
11 culler-jones syndrome 10.0 SMN1 SMN2
12 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 SMN1 SMN2
13 spinal disease 10.0 SMN1 SMN2
14 progressive muscular atrophy 10.0 SMN1 SMN2
15 anterior horn cell disease 10.0 SMN1 SMN2
16 intestinal pseudo-obstruction 9.9
17 neuromuscular disease 9.9 SMN1 SMN2
18 peripheral nervous system disease 9.8 SMN1 SMN2
19 juvenile spinal muscular atrophy 9.7 SMN1 SMN2 VAPB
20 nervous system disease 9.7 SMN1 SMN2
21 motor neuron disease 9.7 SMN1 SMN2 VAPB
22 muscle tissue disease 9.6 MSTN SMN1 SMN2
23 amyotrophic lateral sclerosis 1 9.6 SMN1 SMN2 VAPB
24 muscular disease 9.3 FST MSTN SMN1 SMN2

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Type Iv:



Diseases related to Spinal Muscular Atrophy, Type Iv

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type Iv

Human phenotypes related to Spinal Muscular Atrophy, Type Iv:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 33 HP:0002522
2 proximal muscle weakness 33 HP:0003701
3 proximal amyotrophy 33 HP:0007126
4 emg: neuropathic changes 33 HP:0003445
5 spinal muscular atrophy 33 HP:0007269
6 hand tremor 33 HP:0002378
7 tongue fasciculations 33 HP:0001308
8 degeneration of anterior horn cells 33 HP:0002398

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hand tremor
tongue fasciculations
emg shows neurogenic abnormalities
muscle atrophy, proximal
muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy
more
Muscle Soft Tissue:
hypertrophy of calves (in 3 of 6 patients)

Clinical features from OMIM:

271150

UMLS symptoms related to Spinal Muscular Atrophy, Type Iv:


tremor of hands

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Type Iv:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 FST MSTN SMN2 VAPB

Drugs & Therapeutics for Spinal Muscular Atrophy, Type Iv

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Type Iv

Genetic Tests for Spinal Muscular Atrophy, Type Iv

Genetic tests related to Spinal Muscular Atrophy, Type Iv:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy Type 4 30 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type Iv

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type Iv:

42
Spinal Cord, Tongue

Publications for Spinal Muscular Atrophy, Type Iv

Articles related to Spinal Muscular Atrophy, Type Iv:

# Title Authors Year
1
Clinical utility gene card for: proximal spinal muscular atrophy. ( 22510849 )
2012
2
Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report. ( 22606392 )
2011
3
Consensus statement for standard of care in spinal muscular atrophy. ( 17761659 )
2007
4
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. ( 12872254 )
2003
5
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. ( 7581461 )
1995

Variations for Spinal Muscular Atrophy, Type Iv

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type Iv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
2 SMN1 NC_000005.10: g.70946066_70946176del111 deletion Pathogenic rs1554082110 GRCh37 Chromosome 5, 70241893: 70242003
3 SMN1 NC_000005.10: g.70946066_70946176del111 deletion Pathogenic rs1554082110 GRCh38 Chromosome 5, 70946066: 70946176

Expression for Spinal Muscular Atrophy, Type Iv

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type Iv.

Pathways for Spinal Muscular Atrophy, Type Iv

Pathways related to Spinal Muscular Atrophy, Type Iv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 SMN1 SMN2

GO Terms for Spinal Muscular Atrophy, Type Iv

Cellular components related to Spinal Muscular Atrophy, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.4 SMN1 SMN2
2 perikaryon GO:0043204 9.37 SMN1 SMN2
3 Cajal body GO:0015030 9.32 SMN1 SMN2
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
6 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
7 SMN complex GO:0032797 8.62 SMN1 SMN2

Biological processes related to Spinal Muscular Atrophy, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.26 SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.16 SMN1 SMN2
3 import into nucleus GO:0051170 8.96 SMN1 SMN2
4 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Molecular functions related to Spinal Muscular Atrophy, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.8 MSTN SMN1 SMN2

Sources for Spinal Muscular Atrophy, Type Iv

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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