MCID: PRX014
MIFTS: 36

Proximal Spinal Muscular Atrophy malady

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Proximal Spinal Muscular Atrophy

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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
 
Spinal Muscular Atrophy 68

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

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

Related Diseases for Proximal Spinal Muscular Atrophy

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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-332.0NAIP, SMN1, SMN2
2spinal muscular atrophy-432.0NAIP, SMN1, SMN2
3spinal muscular atrophy-232.0NAIP, SMN1, SMN2
4autosomal dominant childhood-onset proximal spinal muscular atrophy12.2
5spinal muscular atrophy, late-onset, finkel type11.7
6spinal muscular atrophy11.5
7spinal muscular atrophy, lower extremity-predominant 1, ad11.4
8spinal muscular atrophy-111.4
9spinal muscular atrophy, lower extremity-predominant, 2, ad11.3
10muscular atrophy10.7
11sandhoff disease, infantile, juvenile, and adult forms10.5SMN1, SMN2
12exudative vitreoretinopathy10.5SMN1, SMN2
13childhood oligodendroglioma10.4SMN1, SMN2
14breast adenoid cystic carcinoma10.3SMN1, SMN2
15angiomyolipoma10.3APOE, SMN1, SMN2
16dysentery10.2NAIP, SMN1, SMN2
17pain disorder10.2NAIP, SMN1, SMN2
18chronic intestinal vascular insufficiency10.2APOE, SMN1, SMN2
19sptb-related spherocytosis10.2SETX, SMN1, SMN2
20intravascular fasciitis10.0DES, MUC1
21lymphangiosarcoma10.0DES, MUC1
22scoliosis10.0
23combined thymoma10.0DES, MUC1
24chondroblastoma10.0DES, MUC1
25subacute leukemia10.0DES, MUC1
26monophasic synovial sarcoma9.9DES, MUC1
27bartholin's gland benign neoplasm9.9DES, MUC1
28sclerosing liposarcoma9.9DES, MUC1
29white platelet syndrome9.9DES, MUC1
30skin glomangioma9.9DES, MUC1
31parachordoma9.9DES, MUC1
32mucopolysaccharidosis iii9.9NAIP, SETX, SMN1, SMN2
33angora hair nevus9.9DES, MUC1
34short-rib thoracic dysplasia 129.9DES, MUC1
35lateral sclerosis9.8
36muscular dystrophy9.8
37progressive muscular dystrophy9.8
38setx9.8
39dysautonomia9.8
40long qt syndrome 59.8NAIP, SETX, SMN1, SMN2
41occupational dermatitis9.8DES, SMN1, SMN2
42staphyloenterotoxemia9.8DES, MUC1
43omphalocele9.8DES, MUC1
44gallbladder leiomyosarcoma9.7DES, MUC1
45anus leiomyosarcoma9.7DES, MUC1
46renal tubular acidosis, distal, autosomal recessive9.7DES, MUC1
47testicular thecoma9.6BICD2, NAIP, SMN1, SMN2, SMNDC1
48splenic marginal zone lymphoma9.6BICD2, NAIP, SMN1, SMN2, SMNDC1
49megarbane jalkh syndrome9.6DES, MUC1
50second-degree atrioventricular block9.2DES, LMNA

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

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Human phenotypes related to Proximal Spinal Muscular Atrophy:

 64 54 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
2 reduced tendon reflexes64 54 hallmark (90%) Very frequent (99-80%) HP:0001315
3 skeletal muscle atrophy64 hallmark (90%) HP:0003202
4 emg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0003457
5 hemiplegia/hemiparesis64 54 hallmark (90%) Very frequent (99-80%) HP:0004374
6 abnormality of movement64 54 hallmark (90%) Very frequent (99-80%) HP:0100022
7 preauricular skin tag64 54 typical (50%) Frequent (79-30%) HP:0000384
8 abnormality of the ribs64 54 typical (50%) Frequent (79-30%) HP:0000772
9 lymphedema64 54 typical (50%) Frequent (79-30%) HP:0001004
10 limitation of joint mobility64 typical (50%) HP:0001376
11 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
12 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
13 abnormality of the voice64 54 typical (50%) Frequent (79-30%) HP:0001608
14 recurrent fractures64 54 typical (50%) Frequent (79-30%) HP:0002757
15 joint stiffness54 Frequent (79-30%)
16 proximal amyotrophy54 Very frequent (99-80%)
17 proximal lower limb amyotrophy54 Very frequent (99-80%)

UMLS symptoms related to Proximal Spinal Muscular Atrophy:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, hyperexplexia, vertigo/dizziness, sleeplessness

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pyridostigmine BromidePhase 225101-26-8
2Neurotransmitter AgentsPhase 217734
3Cholinesterase InhibitorsPhase 2570
4Cholinergic AgentsPhase 23846
5BromidesPhase 2606

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

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Anatomical Context for Proximal Spinal Muscular Atrophy

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MalaCards organs/tissues related to Proximal Spinal Muscular Atrophy:

36
Skeletal muscle, Skin, Testes

Publications for Proximal Spinal Muscular Atrophy

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Articles related to Proximal Spinal Muscular Atrophy:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015. (25990799)
2015
2
SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. (26606804)
2015
3
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
4
Proximal spinal muscular atrophy: current orthopedic perspective. (24399883)
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
Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. (21529108)
2011
10
Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. (20939690)
2011
11
Fractures in proximal spinal muscular atrophy. (20364429)
2010
12
Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PRO56SER mutation. (18677189)
2008
13
Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. (19010950)
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
Different entities of proximal spinal muscular atrophy within one family. (9341891)
1997
20
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
21
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. (9199562)
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
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
25
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. (7581364)
1995
26
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy. (8023839)
1994
27
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. (8030672)
1994
28
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. (7977383)
1994
29
Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy. (8170486)
1994
30
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. (8105458)
1993
31
The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy. (7907903)
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
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. (6512833)
1984
39
Clinical study of proximal spinal muscular atrophy. Report on 89 cases. (6530365)
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
Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia. (5439897)
1970
47
Chronic proximal spinal muscular atrophy. (5503267)
1970
48
Proximal spinal muscular atrophy. (5910575)
1966
49
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966
50
Familial proximal spinal muscular atrophy. (4952447)
1966

Variations for Proximal Spinal Muscular Atrophy

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Expression for genes affiliated with Proximal Spinal Muscular Atrophy

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

Pathways for genes affiliated with Proximal Spinal Muscular Atrophy

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

idSuper pathwaysScoreTop Affiliating Genes
19.5BICD2, RAB6A

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

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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:003471910.4SMN1, SMN2
5perikaryonGO:004320410.1NAIP, SMN1, SMN2
6Cajal bodyGO:00150309.9SMN1, SMN2, SMNDC1
7Z discGO:00300189.3DES, SMN1, SMN2
8cytoplasmGO:00057376.4APOE, BICD2, DES, DNAI1, LMNA, MUC1

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

idNameGO IDScoreTop Affiliating Genes
1nuclear importGO:005117010.4SMN1, SMN2
2spliceosomal complex assemblyGO:000024510.3SMN1, SMN2
3minus-end-directed organelle transport along microtubuleGO:007238510.0BICD2, RAB6A
4DNA-templated transcription, terminationGO:000635310.0SETX, SMN1, SMN2
5spliceosomal snRNP assemblyGO:00003879.9SMN1, 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

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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