MCID: PRX014
MIFTS: 27

Proximal Spinal Muscular Atrophy malady

Muscle category

Summaries for Proximal Spinal Muscular Atrophy

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33MalaCards
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MalaCards: Proximal Spinal Muscular Atrophy is related to muscular atrophy and spinal muscular atrophy. An important gene associated with Proximal Spinal Muscular Atrophy is NAIP (NLR family, apoptosis inhibitory protein). The compounds aclarubicin and phenylbutyrate have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and nervous system.

Aliases & Classifications for Proximal Spinal Muscular Atrophy

Sources:
43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

proximal spinal muscular atrophy 43


Related Diseases for Proximal Spinal Muscular Atrophy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Proximal Spinal Muscular Atrophy:



Diseases related to proximal spinal muscular atrophy

Clinical Features for Proximal Spinal Muscular Atrophy

Drugs & Therapeutics for Proximal Spinal Muscular Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Proximal Spinal Muscular Atrophy

Search CenterWatch for Proximal Spinal Muscular Atrophy

Genetic Tests for Proximal Spinal Muscular Atrophy

Anatomical Context for Proximal Spinal Muscular Atrophy

Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Proximal Spinal Muscular Atrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.0SMN1, LMNA, MAP1B, CHKB, APOE
2MP:00036317.8SMN1, LMNA, NAIP, MAP1B, CHKB, APOE
3MP:00053867.5APOE, CHKB, MAP1B, VAPB, LMNA, SMN1

Publications for Proximal Spinal Muscular Atrophy

Sources:
51PubMed
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Articles related to Proximal Spinal Muscular Atrophy:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
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
2
Proximal spinal muscular atrophy: current orthopedic perspective. (24399883)
2013
3
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (23664119)
2013
4
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. (22088787)
2012
5
Clinical utility gene card for: proximal spinal muscular atrophy. (22510849)
2012
6
Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients. (23053190)
2012
7
Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR. (21529108)
2011
8
Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. (20939690)
2011
9
Fractures in proximal spinal muscular atrophy. (20364429)
2010
10
Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. (19010950)
2008
11
Pathogenesis of proximal autosomal recessive spinal muscular atrophy. (18629520)
2008
12
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. (17136397)
2007
13
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
14
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
15
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
16
The role of the SMN gene in proximal spinal muscular atrophy. (9735373)
1998
17
Different entities of proximal spinal muscular atrophy within one family. (9341891)
1997
18
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
19
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. (9199562)
1997
20
YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p. (8838809)
1996
21
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. (8900246)
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
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. (8030672)
1994
25
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy. (8023839)
1994
26
Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy. (8170486)
1994
27
Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families. (8105458)
1993
28
The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy. (7907903)
1993
29
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
30
Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution. (2063872)
1991
31
Heterogeneity in proximal spinal muscular atrophy. (1975919)
1990
32
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
33
Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. (3951479)
1986
34
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling. (4078864)
1985
35
Clinical study of proximal spinal muscular atrophy. Report on 89 cases. (6530365)
1984
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
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966
45
Familial proximal spinal muscular atrophy. (4952447)
1966
46
Proximal spinal muscular atrophy. (5910575)
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

Genetic Variations for Proximal Spinal Muscular Atrophy

Expression for genes affiliated with Proximal Spinal Muscular Atrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proximal Spinal Muscular Atrophy

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

Pathways for genes affiliated with Proximal Spinal Muscular Atrophy

Compounds for genes affiliated with Proximal Spinal Muscular Atrophy

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aclarubicin459.7SMN2, SMN1
2phenylbutyrate459.7SMN2, SMN1
3gemfibrozil45 29 1111.6APOE, CHKB
4bezafibrate45 29 1111.5CHKB, APOE
5guanidine45 11 2411.4APOE, CHKB
6alpha tocopherol459.4APOE, CHKB, SETX
7lovastatin45 50 60 29 1113.3LMNA, CHKB, APOE
8spec-t459.2APOE, CHKB
9arginine458.7SMN1, LMNA, CHKB, APOE

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

Sources:
16Gene Ontology
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Cellular components related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.1SMN2, SMNDC1, SETX, LMNA, NAIP, CHKB

Biological processes related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of axon extensionGO:0457739.3MAP1B, APOE
2cell deathGO:0082198.3SMN2, SETX, VAPB, APOE

Molecular functions related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1LMNA, VAPB, MAP1B

Products for genes affiliated with Proximal Spinal Muscular Atrophy

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Sources for Proximal Spinal Muscular Atrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet