MCID: PRX014
MIFTS: 32

Proximal Spinal Muscular Atrophy malady

Rare diseases, Muscle diseases categories
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Summaries for Proximal Spinal Muscular Atrophy

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33MalaCards
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MalaCards: Proximal Spinal Muscular Atrophy is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Proximal Spinal Muscular Atrophy is CHKB (choline kinase beta), and among its related pathways is Regulation of Glucokinase by Glucokinase Regulatory Protein. The compounds aclarubicin and gemfibrozil have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Aliases & Classifications for Proximal Spinal Muscular Atrophy

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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

proximal spinal muscular atrophy 43


Related Diseases for Proximal Spinal Muscular Atrophy

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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

Symptoms for Proximal Spinal Muscular Atrophy

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Drugs & Therapeutics for Proximal Spinal Muscular Atrophy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Proximal Spinal Muscular Atrophy

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Anatomical Context for Proximal Spinal Muscular Atrophy

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33MalaCards
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MalaCards organs/tissues related to Proximal Spinal Muscular Atrophy:

33
Testes

Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Proximal Spinal Muscular Atrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9CHKB, LMNA, APOE, SMN1
2MP:00053888.7DNAI1, LMNA, APOE, SMN1
3MP:00036317.8SMN1, APOE, LMNA, NAIP, CHKB, DNAI1

Publications for Proximal Spinal Muscular Atrophy

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52PubMed
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Articles related to Proximal Spinal Muscular Atrophy:

(show top 50)    (show all 51)
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
Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PRO56SER mutation. (18677189)
2008
11
Brachial amyotrophic diplegia (segmental proximal spinal muscular atrophy) associated with HIV infection. (19010950)
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
Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy. (10846550)
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
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
Clinical study of proximal spinal muscular atrophy. Report on 89 cases. (6530365)
1984
37
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. (6512833)
1984
38
Juvenile proximal spinal muscular atrophy with early hypertrophy of calves. (6878107)
1983
39
Gastrointestinal radiologic manifestations of proximal spinal muscular atrophy (Kugelberg-Welander syndrome). (7120481)
1982
40
Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy. (7224359)
1981
41
A family of juvenile proximal spinal muscular atrophy with dominant inheritance. (933110)
1976
42
A clinical and genetic study of chronic proximal spinal muscular atrophy. (1182487)
1975
43
The Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5173132)
1971
44
Familial adult-onset proximal spinal muscular atrophy. Report of a family with type II hyperlipoproteinemia. (5439897)
1970
45
Kugelberg-Welander syndrome (hereditary proximal spinal muscular atrophy). (5933049)
1966
46
Familial proximal spinal muscular atrophy. (4952447)
1966
47
Proximal spinal muscular atrophy. (5910575)
1966
48
HEREDITARY PROXIMAL SPINAL MUSCULAR ATROPHY. BIOCHEMICAL INVESTIGATIONS. (14267799)
1965
49
Familial proximal spinal muscular atrophy. Study of a large pedigree. (5857744)
1965
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proximal Spinal Muscular Atrophy

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Compounds for genes affiliated with Proximal Spinal Muscular Atrophy

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience
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Compounds related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1aclarubicin4510.0SMN2, SMN1
2gemfibrozil29 45 1112.0CHKB, APOE
3phenylbutyrate459.9SMN2, SMN1
4rosuvastatin45 51 29 1112.9APOE, CHKB
5guanidine45 24 1111.9CHKB, APOE
6spec-t459.9CHKB, APOE
7bezafibrate45 29 1111.9CHKB, APOE
8guanidine hydrochloride459.7CHKB, APOE
9alpha tocopherol459.7APOE, SETX, CHKB
10lovastatin45 51 61 29 1113.7CHKB, LMNA, APOE
11fluvastatin45 51 29 1112.6APOE, CHKB
12olanzapine45 51 29 24 1113.4CHKB, APOE
13arginine459.3SMN1, APOE, LMNA, CHKB
14glutamine459.2RAB6A, CHKB, APOE
15cholesterol45 29 24 1112.2APOE, LMNA, CHKB, RAB6A
16cysteine458.9APOE, NAIP, CHKB, RAB6A

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057376.7BICD2, DNAI1, NAIP, LMNA, SETX, APOE

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

idNameGO IDScoreTop Affiliating Genes
1minus-end-directed organelle transport along microtubuleGO:0723859.4RAB6A, BICD2
2cell deathGO:0082198.5BICD2, SETX, APOE, SMN2

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.5RAB6A, BICD2, DNAI1, NAIP, LMNA, APOE

Products for genes affiliated with Proximal Spinal Muscular Atrophy

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Sources for Proximal Spinal Muscular Atrophy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet