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:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Proximal Spinal Muscular Atrophy:

Name: Proximal Spinal Muscular Atrophy 47 53 67
Sma 47 53
 
Spinal Muscular Atrophy 67

Characteristics:

Orphanet epidemiological data:

53
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:

Orphanet53 ORPHA70
ICD10 via Orphanet30 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.

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 for Proximal Spinal Muscular Atrophy

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Human phenotypes related to Proximal Spinal Muscular Atrophy:

 63 53 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0001252
2 reduced tendon reflexes63 53 hallmark (90%) Very frequent (99-80%) HP:0001315
3 skeletal muscle atrophy63 hallmark (90%) HP:0003202
4 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
5 hemiplegia/hemiparesis63 53 hallmark (90%) Very frequent (99-80%) HP:0004374
6 abnormality of movement63 53 hallmark (90%) Very frequent (99-80%) HP:0100022
7 preauricular skin tag63 53 typical (50%) Frequent (79-30%) HP:0000384
8 abnormality of the ribs63 53 typical (50%) Frequent (79-30%) HP:0000772
9 lymphedema63 53 typical (50%) Frequent (79-30%) HP:0001004
10 limitation of joint mobility63 typical (50%) HP:0001376
11 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
12 polyhydramnios63 53 typical (50%) Frequent (79-30%) HP:0001561
13 abnormality of the voice63 53 typical (50%) Frequent (79-30%) HP:0001608
14 recurrent fractures63 53 typical (50%) Frequent (79-30%) HP:0002757
15 joint stiffness53 Frequent (79-30%)
16 proximal amyotrophy53 Very frequent (99-80%)
17 proximal lower limb amyotrophy53 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

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:

35
Skeletal muscle, Skin, Testes

Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

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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
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
16
The role of the SMN gene in proximal spinal muscular atrophy. (9735373)
1998
17
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
18
Different entities of proximal spinal muscular atrophy within one family. (9341891)
1997
19
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
20
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. (8900246)
1996
21
Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy. (10846550)
1996
22
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
23
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. (7581364)
1995
24
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy. (8023839)
1994
25
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. (8030672)
1994
26
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. (7977383)
1994
27
Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy. (8170486)
1994
28
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. (8105458)
1993
29
The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy. (7907903)
1993
30
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
31
Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution. (2063872)
1991
32
Heterogeneity in proximal spinal muscular atrophy. (1975919)
1990
33
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
34
Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. (3951479)
1986
35
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. (4078864)
1985
36
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. (6512833)
1984
37
Juvenile proximal spinal muscular atrophy with early hypertrophy of calves. (6878107)
1983
38
Gastrointestinal radiologic manifestations of proximal spinal muscular atrophy (Kugelberg-Welander syndrome). (7120481)
1982
39
Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy. (7224359)
1981
40
A family of juvenile proximal spinal muscular atrophy with dominant inheritance. (933110)
1976
41
A clinical and genetic study of chronic proximal spinal muscular atrophy. (1182487)
1975
42
The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5173132)
1971
43
Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia. (5439897)
1970
44
Proximal spinal muscular atrophy. (5910575)
1966
45
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966
46
Familial proximal spinal muscular atrophy. (4952447)
1966
47
HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. BIOCHEMICAL INVESTIGATIONS. (14267799)
1965
48
Familial proximal spinal muscular atrophy. Study of a large pedigree. (5857744)
1965
49
STUDIES ON CARBOHYDRATE METABOLISM IN AMYOTROPHIC LATERAL SCLEROSIS AND HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. (14108417)
1964
50
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy. (13301901)
1955

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
1SMN complexGO:003279710.5SMN1, SMN2
2SMN-Sm protein complexGO:003471910.5SMN1, SMN2
3Gemini of coiled bodiesGO:009750410.5SMN1, SMN2
4cytoplasmic ribonucleoprotein granuleGO:003646410.4SMN1, SMN2
5Cajal bodyGO:00150309.6SMN1, SMN2, SMNDC1
6Z discGO:00300189.6DES, SMN1, SMN2
7perikaryonGO:00432049.6NAIP, SMN1, SMN2
8cytoplasmGO:00057375.5APOE, BICD2, DES, DNAI1, LMNA, MUC1

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

idNameGO IDScoreTop Affiliating Genes
1spliceosomal complex assemblyGO:00002459.9SMN1, SMN2
2spliceosomal snRNP assemblyGO:00003879.8SMN1, SMN2
3DNA-templated transcription, terminationGO:00063539.8SETX, SMN1, SMN2
4minus-end-directed organelle transport along microtubuleGO:00723859.7BICD2, RAB6A
5nuclear importGO:00511709.6SMN1, SMN2

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.5APOE, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet