MCID: SPN398
MIFTS: 35

Spinal Muscular Atrophy, Type Iv

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

Aliases & Classifications for Spinal Muscular Atrophy, Type Iv

MalaCards integrated aliases for Spinal Muscular Atrophy, Type Iv:

Name: Spinal Muscular Atrophy, Type Iv 57 12 73
Spinal Muscular Atrophy, Adult Form 57 12 53 59
Spinal Muscular Atrophy Type 4 53 29 6
Spinal Muscular Atrophy 4 53 75 73
Sma4 57 59 75
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive 57 53
Adult Spinal Muscular Atrophy 12 15
Spinal Muscular Atrophy-4 57 13
Spinal Muscular Atrophy Proximal Adult Autosomal Recessive 75
Proximal Spinal Muscular Atrophy Type 4 59
Adult-Onset Spinal Muscular Atrophy 53
Spinal Muscular Atrophy Adult Form 75
Atrophy, Muscular, Spinal, Type Iv 40
Spinal Muscular Atrophy Type Iv 75
Myelopathic Muscular Atrophy 73
Sma Type Iv 59
Sma Type 4 59
Sma-Iv 59
Sma Iv 75
Sma 4 53

Characteristics:

Orphanet epidemiological data:

59
proximal spinal muscular atrophy type 4
Inheritance: Autosomal recessive; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
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:

32
spinal muscular atrophy, type iv:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 271150
Disease Ontology 12 DOID:0050529
Orphanet 59 ORPHA83420
ICD10 via Orphanet 34 G12.1
UMLS via Orphanet 74 C1838230
MedGen 42 C1838230
MeSH 44 D009134

Summaries for Spinal Muscular Atrophy, Type Iv

UniProtKB/Swiss-Prot : 75 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 proximal spinal muscular atrophy and muscular atrophy, 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 amyotrophy

Description from OMIM: 271150

Related Diseases for Spinal Muscular Atrophy, Type Iv

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tongue fasciculations
hand tremor
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

Human phenotypes related to Spinal Muscular Atrophy, Type Iv:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 areflexia of lower limbs 32 HP:0002522
2 proximal amyotrophy 32 HP:0007126
3 proximal muscle weakness 32 HP:0003701
4 tongue fasciculations 32 HP:0001308
5 hand tremor 32 HP:0002378
6 degeneration of anterior horn cells 32 HP:0002398
7 spinal muscular atrophy 32 HP:0007269
8 emg 32 HP:0003445

UMLS symptoms related to Spinal Muscular Atrophy, Type Iv:


tremor of hands

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

46
# 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 29 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type Iv

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

41
Spinal Cord, Tongue

Publications for Spinal Muscular Atrophy, Type Iv

Articles related to Spinal Muscular Atrophy, Type Iv:

# Title Authors Year
1
Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report. ( 22606392 )
2011

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_000005.9: g.70241893_70242003del deletion Pathogenic GRCh37 Chromosome 5, 70241893: 70242003

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 10.86 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 cytoplasmic ribonucleoprotein granule GO:0036464 9.32 SMN1 SMN2
4 Cajal body GO:0015030 9.26 SMN1 SMN2
5 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
6 SMN complex GO:0032797 8.96 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 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 complex assembly GO:0000245 9.26 SMN1 SMN2
2 spliceosomal snRNP assembly GO:0000387 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 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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