MCID: SPN317
MIFTS: 41

Spinal Muscular Atrophy-3

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

Aliases & Classifications for Spinal Muscular Atrophy-3

MalaCards integrated aliases for Spinal Muscular Atrophy-3:

Name: Spinal Muscular Atrophy-3 54 13
Juvenile Spinal Muscular Atrophy 12 56 14 69
Kugelberg-Welander Disease 12 51 56 29
Sma3 12 50 56 71
Kugelberg-Welander Syndrome 50 71
Sma Iii 71 52
Kws 50 71
Spinal Muscular Atrophy, Mild Childhood and Adolescent Form 50
Spinal Muscular Atrophy Mild Childhood and Adolescent Form 71
Spinal Muscular Atrophy, Type Iii, Modifier of 54
Proximal Spinal Muscular Atrophy Type 3 56
Spinal Muscular Atrophy of Childhood 12
Wohlfart-Kugelberg-Welander Disease 71
Spinal Muscular Atrophy, Familial 12
Type Iii Spinal Muscular Atrophy 12
Spinal Muscular Atrophy Type Iii 71
Spinal Muscular Atrophy Type 3 50
Muscular Atrophy, Juvenile 50
Spinal Muscular Atrophy 3 71
Sma Type Iii 56
Sma Type 3 56
Sma-Iii 56
Sma 3 50

Characteristics:

Orphanet epidemiological data:

56
proximal spinal muscular atrophy type 3
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in childhood or adolescence
presentation after 18 months
individuals develop ability to stand and walk
deletions in naip gene found in 18% of sma2 patients


HPO:

32
spinal muscular atrophy-3:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 253400
Disease Ontology 12 DOID:12376
ICD9CM 35 335.11
MeSH 42 D014897
SNOMED-CT 64 54280009
Orphanet 56 ORPHA83419
UMLS via Orphanet 70 C0152109
ICD10 via Orphanet 34 G12.1
MedGen 40 C0152109

Summaries for Spinal Muscular Atrophy-3

NINDS : 51 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.  The lower extremities are most often affected.  Complications include scoliosis and chronic shortening of muscles or tendons around joints.  

MalaCards based summary : Spinal Muscular Atrophy-3, also known as juvenile spinal muscular atrophy, is related to amyotrophy, monomelic and survival motor neuron spinal muscular atrophy, and has symptoms including hyporeflexia, muscle weakness and muscle cramps. An important gene associated with Spinal Muscular Atrophy-3 is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways are Arginine and proline metabolism and Urea cycle and metabolism of amino groups. Affiliated tissues include spinal cord and tongue.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on spinal muscular atrophy.

OMIM : 54
SMA is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs. By convention, SMA is classified into 4 types: I (SMA1; 253300), II (SMA2; 253550), III (SMA3), and IV (271150), by increasing age at onset and decreasing clinical severity. SMA1 is the most severe form of the disorder and often results in death in early childhood. SMA3, known as the juvenile form, tends to show onset in childhood or adolescence (summary by Fraidakis et al., 2012). (253400)

UniProtKB/Swiss-Prot : 71 Spinal muscular atrophy 3: 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 after 18 months. Patients develop ability to stand and walk and survive into adulthood.

Related Diseases for Spinal Muscular Atrophy-3

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy-1 Spinal Muscular Atrophy-2
Spinal Muscular Atrophy-3 Spinal Muscular Atrophy-4
Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy-3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 amyotrophy, monomelic 11.5
2 survival motor neuron spinal muscular atrophy 11.2
3 spinal muscular atrophy, distal, autosomal recessive, 3 11.2
4 spinal muscular atrophy, lower extremity, autosomal dominant 11.1
5 spinal muscular atrophy, lower extremity-predominant 1, ad 11.1
6 neuronopathy, distal hereditary motor, type i 11.1
7 spinal muscular atrophy, distal, x-linked 3 11.1
8 spinal muscular atrophy-1 10.9
9 proximal spinal muscular atrophy 10.8
10 stargardt disease, autosomal recessive 10.5 SMN1 SMN2
11 spinal cord oligodendroglioma 10.4 SMN1 SMN2
12 spinal muscular atrophy 10.4
13 muscular atrophy 10.4
14 esophageal adenoid cystic carcinoma 10.4 SMN1 SMN2
15 pain disorder 10.2 NAIP SMN1 SMN2
16 erythema elevatum diutinum 10.2 NAIP SMN1 SMN2
17 pseudoachondroplastic dysplasia 2 10.2 NAIP SMN1 SMN2
18 spinal muscular atrophy-2 10.2 NAIP SMN1 SMN2
19 eosinophilic variant of chromophobe renal cell carcinoma 10.2 NAIP SMN1 SMN2
20 spongiotic dermatitis 10.2 NAIP SMN1 SMN2
21 compartment syndrome 10.1 HEXA VAPB
22 retinitis pigmentosa with or without skeletal anomalies 10.1 SMN1 SMN2 VAPB
23 tyrosinemia, type i 10.0 HEXA SMN1
24 gallbladder sarcoma 10.0 CKB CKM
25 pancreatic acinar cell adenocarcinoma 9.9 SMN1 SMN2
26 botryoid rhabdomyosarcoma 9.9 CKB CKM
27 beach ear 9.9 CKB CKM
28 scoliosis 9.8
29 xanthinuria, type i 9.8 CKB CKM
30 uv-sensitive syndrome 3 9.7 CKB CKM
31 sphenoid sinus inverted papilloma 9.7 NAIP SMN1 SMN2 VAPB
32 adult respiratory distress syndrome 9.6 CHKB CKB CKM
33 mucopolysaccharidosis iii 9.3 HEXA NAIP SMN1 SMN2 VAPB
34 long qt syndrome 5 9.2 HEXA NAIP SMN1 SMN2 VAPB
35 splenic marginal zone lymphoma 8.9 HEXA NAIP PLS3 SMN1 SMN2 VAPB
36 spinal muscular atrophy-4 6.5 CHKB CKB CKM HEXA NAIP PLS3

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy-3:



Diseases related to Spinal Muscular Atrophy-3

Symptoms & Phenotypes for Spinal Muscular Atrophy-3

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Peripheral Nervous System:
hyporeflexia
areflexia of the lower limbs

Neurologic- Central Nervous System:
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
tongue fasciculation/fibrillation
degeneration of anterior horn cells
hand tremor
limb fasciculation

Muscle Soft Tissue:
muscle cramps
proximal muscle weakness and atrophy
chronic denervation seen on emg
neuropathic process seen on muscle biopsy


Clinical features from OMIM:

253400

Human phenotypes related to Spinal Muscular Atrophy-3:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 muscle weakness 32 HP:0001324
3 muscle cramps 32 HP:0003394
4 spinal muscular atrophy 32 HP:0007269
5 areflexia of lower limbs 32 HP:0002522
6 degeneration of anterior horn cells 32 HP:0002398
7 hand tremor 32 HP:0002378
8 tongue fasciculations 32 HP:0001308
9 emg abnormality 32 HP:0003457
10 limb fasciculations 32 HP:0007289

UMLS symptoms related to Spinal Muscular Atrophy-3:


muscle cramp

Drugs & Therapeutics for Spinal Muscular Atrophy-3

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy-3

Genetic Tests for Spinal Muscular Atrophy-3

Genetic tests related to Spinal Muscular Atrophy-3:

id Genetic test Affiliating Genes
1 Kugelberg-Welander Disease 29

Anatomical Context for Spinal Muscular Atrophy-3

MalaCards organs/tissues related to Spinal Muscular Atrophy-3:

39
Spinal Cord, Tongue

Publications for Spinal Muscular Atrophy-3

Variations for Spinal Muscular Atrophy-3

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy-3:

71
id Symbol AA change Variation ID SNP ID
1 SMN1 p.Ala2Gly VAR_005615 rs75030631
2 SMN1 p.Ser262Ile VAR_005616 rs75660264
3 SMN1 p.Thr274Ile VAR_005618 rs76871093
4 SMN1 p.Gly275Ser VAR_005619 rs77301881
5 SMN1 p.Gly279Cys VAR_007990 rs77969175
6 SMN1 p.Pro245Leu VAR_010051 rs75586164
7 SMN1 p.Asp44Val VAR_034804 rs104893931
8 SMN1 p.Gly95Arg VAR_034805 rs104893927
9 SMN1 p.Ser262Gly VAR_034809 rs104893932

ClinVar genetic disease variations for Spinal Muscular Atrophy-3:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SMN2 NM_017411.3(SMN2): c.859G> C (p.Gly287Arg) single nucleotide variant Pathogenic,risk factor rs121909192 GRCh37 Chromosome 5, 69372372: 69372372
2 SMN1 NM_000344.3(SMN1): c.821C> T (p.Thr274Ile) single nucleotide variant Pathogenic rs76871093 GRCh37 Chromosome 5, 70241990: 70241990
3 SMN1 NM_000344.3(SMN1): c.785G> T (p.Ser262Ile) single nucleotide variant Pathogenic rs75660264 GRCh37 Chromosome 5, 70241954: 70241954
4 SMN1 NM_000344.3(SMN1): c.5C> G (p.Ala2Gly) single nucleotide variant Pathogenic rs75030631 GRCh37 Chromosome 5, 70220935: 70220935
5 SMN1 SMN1, EX8DEL deletion Pathogenic
6 SMN1 SMN1, IVS7DS, T-G, +6 single nucleotide variant Pathogenic
7 SMN1 NM_000344.3(SMN1): c.131A> T (p.Asp44Val) single nucleotide variant Pathogenic rs104893931 GRCh37 Chromosome 5, 70234715: 70234715
8 SMN1 NM_000344.3(SMN1): c.305G> A (p.Trp102Ter) single nucleotide variant Pathogenic rs77804083 GRCh37 Chromosome 5, 70238216: 70238216
9 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
10 SMN1 NM_000344.3(SMN1): c.283G> C (p.Gly95Arg) single nucleotide variant Pathogenic rs104893927 GRCh37 Chromosome 5, 70238194: 70238194
11 SMN1 NM_000344.3(SMN1): c.784A> G (p.Ser262Gly) single nucleotide variant Pathogenic rs104893932 GRCh37 Chromosome 5, 70241953: 70241953
12 SMN1 NM_000344.3(SMN1): c.389A> G (p.Tyr130Cys) single nucleotide variant Pathogenic rs397514517 GRCh37 Chromosome 5, 70238300: 70238300
13 SMN1 NM_000344.3(SMN1): c.388T> C (p.Tyr130His) single nucleotide variant Pathogenic rs397514518 GRCh37 Chromosome 5, 70238299: 70238299
14 SMN1 SMN1, DEL deletion Pathogenic
15 SMN1 NC_000005.9: g.70241893_70242003del deletion Pathogenic GRCh37 Chromosome 5, 70241893: 70242003

Expression for Spinal Muscular Atrophy-3

Search GEO for disease gene expression data for Spinal Muscular Atrophy-3.

Pathways for Spinal Muscular Atrophy-3

Pathways related to Spinal Muscular Atrophy-3 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 CKB CKM
2
Show member pathways
10.34 CKB CKM
3 9.74 CKB CKM

GO Terms for Spinal Muscular Atrophy-3

Cellular components related to Spinal Muscular Atrophy-3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.58 NAIP SMN1 SMN2
2 cytoplasmic ribonucleoprotein granule GO:0036464 9.37 SMN1 SMN2
3 Cajal body GO:0015030 9.32 SMN1 SMN2
4 SMN-Sm protein complex GO:0034719 9.26 SMN1 SMN2
5 SMN complex GO:0032797 9.16 SMN1 SMN2
6 perikaryon GO:0043204 9.13 NAIP SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 8.62 SMN1 SMN2

Biological processes related to Spinal Muscular Atrophy-3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.26 SMN1 SMN2
3 nuclear import GO:0051170 9.16 SMN1 SMN2
4 DNA-templated transcription, termination GO:0006353 8.96 SMN1 SMN2
5 creatine metabolic process GO:0006600 8.62 CKB CKM

Molecular functions related to Spinal Muscular Atrophy-3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring phosphorus-containing groups GO:0016772 8.96 CKB CKM
2 creatine kinase activity GO:0004111 8.62 CKB CKM

Sources for Spinal Muscular Atrophy-3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....