MCID: PRX014
MIFTS: 34

Proximal Spinal Muscular Atrophy malady

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Proximal Spinal Muscular Atrophy

About this section
Sources:
66UMLS, 46NIH Rare Diseases, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Proximal Spinal Muscular Atrophy:

Name: Proximal Spinal Muscular Atrophy 46 52 66
Spinal Muscular Atrophy 66
 
Sma 52

Characteristics:

Orphanet epidemiological data:

52
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:

Orphanet52 ORPHA70
ICD10 via Orphanet29 G12.0, G12.1

Summaries for Proximal Spinal Muscular Atrophy

About this section
MalaCards based summary: Proximal Spinal Muscular Atrophy, also known as spinal muscular atrophy, 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

About this section

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-331.7NAIP, SMN1, SMN2
2spinal muscular atrophy-431.7NAIP, SMN1, SMN2
3spinal muscular atrophy-231.7NAIP, SMN1, SMN2
4autosomal dominant childhood-onset proximal spinal muscular atrophy12.3
5spinal muscular atrophy, late-onset, finkel type11.6
6spinal muscular atrophy, lower extremity-predominant 1, ad11.5
7spinal muscular atrophy-111.5
8spinal muscular atrophy, lower extremity-predominant, 2, ad11.4
9spinal muscular atrophy11.2
10muscular atrophy10.8
11sandhoff disease, infantile, juvenile, and adult forms10.5SMN1, SMN2
12exudative vitreoretinopathy10.5SMN1, SMN2
13childhood oligodendroglioma10.4SMN1, SMN2
14breast adenoid cystic carcinoma10.3SMN1, SMN2
15scoliosis10.1
16angiomyolipoma10.1APOE, SMN1, SMN2
17chronic intestinal vascular insufficiency10.0APOE, SMN1, SMN2
18sptb-related spherocytosis10.0SETX, SMN1, SMN2
19occupational dermatitis10.0DES, SMN1, SMN2
20lateral sclerosis9.9
21muscular dystrophy9.9
22progressive muscular dystrophy9.9
23setx9.9
24dysautonomia9.9
25dysentery9.9NAIP, SMN1, SMN2
26pain disorder9.9NAIP, SMN1, SMN2
27intravascular fasciitis9.9DES, MUC1
28lymphangiosarcoma9.9DES, MUC1
29combined thymoma9.9DES, MUC1
30chondroblastoma9.8DES, MUC1
31subacute leukemia9.8DES, MUC1
32monophasic synovial sarcoma9.8DES, MUC1
33bartholin's gland benign neoplasm9.8DES, MUC1
34sclerosing liposarcoma9.8DES, MUC1
35white platelet syndrome9.8DES, MUC1
36skin glomangioma9.8DES, MUC1
37parachordoma9.8DES, MUC1
38second-degree atrioventricular block9.7DES, LMNA
39angora hair nevus9.7DES, MUC1
40short-rib thoracic dysplasia 129.7DES, MUC1
41staphyloenterotoxemia9.7DES, MUC1
42omphalocele9.6DES, MUC1
43gallbladder leiomyosarcoma9.6DES, MUC1
44anus leiomyosarcoma9.5DES, MUC1
45renal tubular acidosis, distal, autosomal recessive9.5DES, MUC1
46megarbane jalkh syndrome9.4DES, MUC1
47mucopolysaccharidosis iii9.4NAIP, SETX, SMN1, SMN2
48long qt syndrome 59.3NAIP, SETX, SMN1, SMN2
49testicular thecoma9.3BICD2, NAIP, SMN1, SMN2, SMNDC1
50splenic marginal zone lymphoma9.3BICD2, NAIP, SMN1, SMN2, SMNDC1

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

About this section

Symptoms:

 52 (show all 15)
  • preauricular skin tag
  • lymphedema
  • muscular hypotonia
  • reduced tendon reflexes
  • joint stiffness
  • intrauterine growth retardation
  • polyhydramnios
  • abnormality of the voice
  • recurrent fractures
  • emg abnormality
  • hemiplegia/hemiparesis
  • proximal amyotrophy
  • proximal lower limb amyotrophy
  • abnormality of movement
  • abnormality of the ribs

HPO human phenotypes related to Proximal Spinal Muscular Atrophy:

(show all 14)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 reduced tendon reflexes hallmark (90%) HP:0001315
3 skeletal muscle atrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 hemiplegia/hemiparesis hallmark (90%) HP:0004374
6 abnormality of movement hallmark (90%) HP:0100022
7 preauricular skin tag typical (50%) HP:0000384
8 abnormality of the ribs typical (50%) HP:0000772
9 lymphedema typical (50%) HP:0001004
10 limitation of joint mobility typical (50%) HP:0001376
11 intrauterine growth retardation typical (50%) HP:0001511
12 polyhydramnios typical (50%) HP:0001561
13 abnormality of the voice typical (50%) HP:0001608
14 recurrent fractures typical (50%) HP:0002757

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Proximal Spinal Muscular Atrophy

Genetic Tests for Proximal Spinal Muscular Atrophy

About this section

Anatomical Context for Proximal Spinal Muscular Atrophy

About this section

MalaCards organs/tissues related to Proximal Spinal Muscular Atrophy:

34
Skeletal muscle, Skin, Testes

Animal Models for Proximal Spinal Muscular Atrophy or affiliated genes

About this section

Publications for Proximal Spinal Muscular Atrophy

About this section

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

About this section

Expression for genes affiliated with Proximal Spinal Muscular Atrophy

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

Pathways for genes affiliated with Proximal Spinal Muscular Atrophy

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
19.6BICD2, RAB6A

GO Terms for genes affiliated with Proximal Spinal Muscular Atrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1SMN complexGO:003279710.4SMN1, SMN2
2SMN-Sm protein complexGO:003471910.4SMN1, SMN2
3Gemini of coiled bodiesGO:009750410.4SMN1, SMN2
4cytoplasmic ribonucleoprotein granuleGO:003646410.4SMN1, SMN2
5Z discGO:00300189.7DES, SMN1, SMN2
6Cajal bodyGO:00150309.6SMN1, SMN2, SMNDC1
7perikaryonGO:00432049.4NAIP, SMN1, SMN2
8cytoplasmGO:00057375.8APOE, 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:00002459.8SMN1, SMN2
2minus-end-directed organelle transport along microtubuleGO:00723859.8BICD2, RAB6A
3nuclear importGO:00511709.7SMN1, SMN2
4DNA-templated transcription, terminationGO:00063539.6SETX, SMN1, SMN2
5spliceosomal snRNP assemblyGO:00003879.5SMN1, SMN2

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.4APOE, DES, SETX, SMN1, SMN2
2protein bindingGO:00055155.2APOE, BICD2, DES, DNAI1, LMNA, MUC1

Sources for Proximal Spinal Muscular Atrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet