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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MalaCards based summary: 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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Proximal Spinal Muscular Atrophy, Aliases & Descriptions:

Name: Proximal Spinal Muscular Atrophy 42


Classifications:

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


Related Diseases for Proximal Spinal Muscular Atrophy

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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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Drug clinical trials:

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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:

32
Testes

Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Proximal Spinal Muscular Atrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9SMN1, CHKB, LMNA, APOE
2MP:00053888.7SMN1, APOE, LMNA, DNAI1
3MP:00036317.8APOE, LMNA, NAIP, CHKB, DNAI1, SMN1

Publications for Proximal Spinal Muscular Atrophy

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Articles related to Proximal Spinal Muscular Atrophy:

(show top 50)    (show all 52)
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
No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
1999
14
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
15
The role of the SMN gene in proximal spinal muscular atrophy. (9735373)
1998
16
Different entities of proximal spinal muscular atrophy within one family. (9341891)
1997
17
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
18
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. (9199562)
1997
19
Biphasic intra-abdominal desmoplastic small cell tumor in a patient with proximal spinal muscular atrophy. (10846550)
1996
20
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. (8900246)
1996
21
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
22
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. (7581364)
1995
23
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. (8030672)
1994
24
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy. (8023839)
1994
25
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. (7977383)
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

Variations for Proximal Spinal Muscular Atrophy

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Expression for genes affiliated with Proximal Spinal Muscular Atrophy

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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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Compounds related to Proximal Spinal Muscular Atrophy according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1aclarubicin4410.0SMN2, SMN1
2gemfibrozil28 44 1112.0CHKB, APOE
3phenylbutyrate449.9SMN2, SMN1
4rosuvastatin44 50 28 1112.9APOE, CHKB
5guanidine44 24 1111.9CHKB, APOE
6spec-t449.9CHKB, APOE
7bezafibrate44 28 1111.9CHKB, APOE
8guanidine hydrochloride449.7CHKB, APOE
9alpha tocopherol449.7APOE, SETX, CHKB
10lovastatin44 50 61 28 1113.7CHKB, LMNA, APOE
11fluvastatin44 50 28 1112.6APOE, CHKB
12olanzapine44 50 28 24 1113.4CHKB, APOE
13arginine449.3SMN1, APOE, LMNA, CHKB
14glutamine449.2RAB6A, CHKB, APOE
15cholesterol44 28 24 1112.2APOE, LMNA, CHKB, RAB6A
16cysteine448.9APOE, NAIP, CHKB, 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/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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet