SMA
MCID: PRX014
MIFTS: 36

Proximal Spinal Muscular Atrophy (SMA) malady

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Proximal Spinal Muscular Atrophy

About this section
Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Proximal Spinal Muscular Atrophy:

Name: Proximal Spinal Muscular Atrophy 48 54 68
 
Sma 48 54

Characteristics:

Orphanet epidemiological data:

54
proximal spinal muscular atrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age

Classifications:



External Ids:

Orphanet54 ORPHA70
ICD10 via Orphanet31 G12.0, G12.1

Summaries for Proximal Spinal Muscular Atrophy

About this section
MalaCards based summary: Proximal Spinal Muscular Atrophy, also known as SMA, is related to spinal muscular atrophy-4 and spinal muscular atrophy-3, and has symptoms including Array, Array and Array. An important gene associated with Proximal Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Cytoskeletal Signaling. Affiliated tissues include skin and testes, and related mouse phenotype Negative genetic interaction between BLM-/- and BLM+/+.

Related Diseases for Proximal Spinal Muscular Atrophy

About this section

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy-431.9NAIP, SMN1, SMN2
2spinal muscular atrophy-331.9NAIP, SMN1, SMN2
3autosomal dominant childhood-onset proximal spinal muscular atrophy12.2
4spinal muscular atrophy, late-onset, finkel type11.7
5spinal muscular atrophy11.5
6spinal muscular atrophy, lower extremity-predominant, 2, ad11.4
7spinal muscular atrophy, lower extremity-predominant 1, ad11.4
8spinal muscular atrophy-111.4
9spinal muscular atrophy-211.1
10muscular atrophy10.7
11posterior polar cataract10.3SMN1, SMN2
12pigmented nodular adrenocortical disease, primary, 310.3SMN1, SMN2
13spinal cord glioma10.2SMN1, SMN2
14shigellosis10.2NAIP, SMN1, SMN2
15bipolar ll disorder10.1NAIP, SMN1, SMN2
16cardiac tuberculosis10.1NAIP, SMN1, SMN2
17sandhoff disease, infantile, juvenile, and adult forms10.1NAIP, SMN1, SMN2
18substance-induced psychosis10.1APOE, SMN1, SMN2
19colorado tick fever10.1SMN1, SMN2
20vagina leiomyosarcoma10.0DES, MUC1
21myoma10.0DES, MUC1
22invasive malignant thymoma10.0DES, MUC1
23spleen angiosarcoma10.0DES, MUC1
24marfanoid hypermobility syndrome10.0DES, MUC1
25ovarian cystadenoma10.0DES, MUC1
26biliary papillomatosis10.0DES, MUC1
27tanycytic ependymoma10.0DES, MUC1
28petrous apex meningioma10.0DES, MUC1
29episodic ataxia10.0DES, MUC1
30vulvar squamous papilloma10.0DES, MUC1
31polydactyly cleft lip palate psychomotor retardation10.0DES, MUC1
32mucopolysaccharidosis iv10.0NAIP, SETX, SMN1, SMN2
33mediastinum liposarcoma10.0DES, MUC1
34scoliosis10.0
35coronary stenosis10.0DES, MUC1
36sebaceous adenoma10.0DES, MUC1
37anal gland neoplasm10.0DES, MUC1
38long qt syndrome 510.0NAIP, SETX, SMN1, SMN2
39omodysplasia 29.9DES, MUC1
40congenital muscular dystrophy with hyperlaxity9.9DES, MUC1
41lung benign neoplasm9.9DES, MUC1
42orthostatic proteinuria9.9DES, MUC1
43bladder urachal adenocarcinoma9.9BICD2, NAIP, SMN1, SMN2, SMNDC1
44phototoxic dermatitis9.8DES, NAIP, SMN1, SMN2
45lateral sclerosis9.8
46muscular dystrophy9.8
47progressive muscular dystrophy9.8
48dysautonomia9.8
49diarrhea, chronic, with villous atrophy9.8DES, MUC1
50spondylolisthesis9.6BICD2, LMNA, NAIP, SMN1, SMN2, SMNDC1

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



Diseases related to proximal spinal muscular atrophy

Symptoms & Phenotypes for Proximal Spinal Muscular Atrophy

About this section

Human phenotypes related to Proximal Spinal Muscular Atrophy:

 54 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preauricular skin tag64 54 Frequent (79-30%) HP:0000384
2 lymphedema64 54 Frequent (79-30%) HP:0001004
3 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
4 reduced tendon reflexes64 54 Very frequent (99-80%) HP:0001315
5 joint stiffness64 54 Frequent (79-30%) HP:0001387
6 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
7 polyhydramnios64 54 Frequent (79-30%) HP:0001561
8 abnormality of the voice64 54 Frequent (79-30%) HP:0001608
9 recurrent fractures64 54 Frequent (79-30%) HP:0002757
10 emg abnormality64 54 Very frequent (99-80%) HP:0003457
11 hemiplegia/hemiparesis64 54 Very frequent (99-80%) HP:0004374
12 proximal amyotrophy54 Very frequent (99-80%)
13 proximal lower limb amyotrophy64 54 Very frequent (99-80%) HP:0008956
14 abnormality of movement64 54 Very frequent (99-80%) HP:0100022
15 abnormality of the ribs64 54 Frequent (79-30%) HP:0000772

GenomeRNAi Phenotypes related to Proximal Spinal Muscular Atrophy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00255-A-18.4APOE, BICD2, LMNA, SMNDC1

Drugs & Therapeutics for Proximal Spinal Muscular Atrophy

About this section

Drugs for Proximal Spinal Muscular Atrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pyridostigmine BromidePhase 227101-26-8
2Neurotransmitter AgentsPhase 218340
3Cholinesterase InhibitorsPhase 2592
4Cholinergic AgentsPhase 23992
5BromidesPhase 2642

Interventional clinical trials:

idNameStatusNCT IDPhase
1SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4RecruitingNCT02941328Phase 2

Search NIH Clinical Center for Proximal Spinal Muscular Atrophy

Genetic Tests for Proximal Spinal Muscular Atrophy

About this section

Anatomical Context for Proximal Spinal Muscular Atrophy

About this section

MalaCards organs/tissues related to Proximal Spinal Muscular Atrophy:

36
Skin, Testes

Publications for Proximal Spinal Muscular Atrophy

About this section

Articles related to Proximal Spinal Muscular Atrophy:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. (26606804)
2015
2
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015. (25990799)
2015
3
Proximal spinal muscular atrophy: current orthopedic perspective. (24399883)
2013
4
Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients. (24093531)
2013
5
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (23664119)
2013
6
Clinical utility gene card for: proximal spinal muscular atrophy. (22510849)
2012
7
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. (22088787)
2012
8
Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients. (23053190)
2012
9
Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. (20939690)
2011
10
Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. (21529108)
2011
11
Fractures in proximal spinal muscular atrophy. (20364429)
2010
12
Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. (19010950)
2008
13
Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PRO56SER mutation. (18677189)
2008
14
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. (17136397)
2007
15
SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. (10757638)
2000
16
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
17
The role of the SMN gene in proximal spinal muscular atrophy. (9735373)
1998
18
Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity. (9605392)
1998
19
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. (9199562)
1997
20
Different entities of proximal spinal muscular atrophy within one family. (9341891)
1997
21
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. (9077498)
1997
22
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. (8900246)
1996
23
Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy. (10846550)
1996
24
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. (7581364)
1995
25
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases. (7644431)
1995
26
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. (8030672)
1994
27
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy. (8023839)
1994
28
Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy. (8170486)
1994
29
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. (7977383)
1994
30
The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy. (7907903)
1993
31
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. (8105458)
1993
32
Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. (1570842)
1992
33
Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution. (2063872)
1991
34
Heterogeneity in proximal spinal muscular atrophy. (1975919)
1990
35
Clinical and morphometric analysis of biopsied biceps brachii muscles in adult-onset chronic proximal spinal muscular atrophy. With special reference to intramuscular nerves. (3401687)
1988
36
Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. (3951479)
1986
37
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. (4078864)
1985
38
Clinical study of proximal spinal muscular atrophy. Report on 89 cases. (6530365)
1984
39
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. (6512833)
1984
40
Juvenile proximal spinal muscular atrophy with early hypertrophy of calves. (6878107)
1983
41
Gastrointestinal radiologic manifestations of proximal spinal muscular atrophy (Kugelberg-Welander syndrome). (7120481)
1982
42
Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy. (7224359)
1981
43
A family of juvenile proximal spinal muscular atrophy with dominant inheritance. (933110)
1976
44
A clinical and genetic study of chronic proximal spinal muscular atrophy. (1182487)
1975
45
The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5173132)
1971
46
Chronic proximal spinal muscular atrophy. (5503267)
1970
47
Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia. (5439897)
1970
48
Proximal spinal muscular atrophy. (5910575)
1966
49
Familial proximal spinal muscular atrophy. (4952447)
1966
50
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966

Variations for Proximal Spinal Muscular Atrophy

About this section

Expression for genes affiliated with Proximal Spinal Muscular Atrophy

About this section
Search GEO for disease gene expression data for Proximal Spinal Muscular Atrophy.

Pathways for genes affiliated with Proximal Spinal Muscular Atrophy

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.5BICD2, RAB6A
28.5DES, LMNA, MUC1, RAB6A

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic ribonucleoprotein granuleGO:003646410.5SMN1, SMN2
2Gemini of coiled bodiesGO:009750410.5SMN1, SMN2
3SMN complexGO:003279710.5SMN1, SMN2
4SMN-Sm protein complexGO:003471910.5SMN1, SMN2
5perikaryonGO:004320410.1NAIP, SMN1, SMN2
6Cajal bodyGO:00150309.9SMN1, SMN2, SMNDC1
7Z discGO:00300189.3DES, SMN1, SMN2
8cytoplasmGO:00057376.9APOE, BICD2, DES, DNAI1, MUC1, NAIP

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1nuclear importGO:005117010.4SMN1, SMN2
2spliceosomal complex assemblyGO:000024510.3SMN1, SMN2
3minus-end-directed organelle transport along microtubuleGO:007238510.2BICD2, RAB6A
4DNA-templated transcription, terminationGO:000635310.2SETX, SMN1, SMN2
5protein targeting to GolgiGO:000004210.0BICD2, RAB6A
6spliceosomal snRNP assemblyGO:00003879.9SMN1, SMN2
7nervous system developmentGO:00073999.7NAIP, SETX, SMN1, SMN2

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428029.4APOE, DES, SETX, SMN1, SMN2
2protein bindingGO:00055155.2APOE, BICD2, DES, DNAI1, LMNA, MUC1

Sources for Proximal Spinal Muscular Atrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet