MCID: PRX014
MIFTS: 34

Proximal Spinal Muscular Atrophy malady

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Proximal Spinal Muscular Atrophy

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Sources:
65UMLS, 51Orphanet, 45NIH Rare Diseases, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Proximal Spinal Muscular Atrophy:

Name: Proximal Spinal Muscular Atrophy 45 51 65
Spinal Muscular Atrophy 65
 
Sma 51

Characteristics:

Orphanet epidemiological data:

51
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:

Orphanet51 70
ICD10 via Orphanet28 G12.0, G12.1
UMLS65 C4024957

Summaries for Proximal Spinal Muscular Atrophy

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MalaCards based summary: Proximal Spinal Muscular Atrophy, also known as spinal muscular atrophy, is related to proximal spinal muscular atrophy type 2 and autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, and has symptoms including muscular hypotonia, reduced tendon reflexes and skeletal muscle atrophy. An important gene associated with Proximal Spinal Muscular Atrophy is LMNA (Lamin A/C), and among its related pathways is COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skin, skeletal muscle and bone.

Related Diseases for Proximal Spinal Muscular Atrophy

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Diseases in the Proximal Spinal Muscular Atrophy family:

Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant Proximal Spinal Muscular Atrophy Type 3
Proximal Spinal Muscular Atrophy Type 4 Proximal Spinal Muscular Atrophy Type 2

Diseases related to Proximal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1proximal spinal muscular atrophy type 233.7NAIP, SMN1, SMN2
2autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures12.7
3autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures12.7
4autosomal dominant childhood-onset proximal spinal muscular atrophy12.7
5adult-onset proximal spinal muscular atrophy, autosomal dominant12.6
6proximal spinal muscular atrophy type 312.6
7proximal spinal muscular atrophy type 412.6
8spinal muscular atrophy-111.9
9spinal muscular atrophy, lower extremity-predominant 1, ad11.8
10spinal muscular atrophy, late-onset, finkel type10.5
11spinal muscular atrophy10.5
12lymphoma10.4
13hepatocellular carcinoma10.3
14pancreatitis10.3
15megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome10.2SMN1, SMN2
16hiv-110.2
17hodgkin lymphoma10.2
18hyperprolactinemia10.2
19hypertriglyceridemia10.2
20becker muscular dystrophy10.2
21arthritis10.2
22atherosclerosis10.2
23hepatitis10.2
24mycosis fungoides10.2
25neuromyelitis optica10.2
26neutropenia10.2
27small cell carcinoma10.2
28ductal carcinoma in situ10.2
29urinary bladder cancer10.2
30sarcoma10.2
31hellp syndrome10.2
32cervicitis10.2
33acute pancreatitis10.2
34adenocarcinoma10.2
35lipid metabolism disorder10.2
36subclavian artery aneurysm10.2
37myopathy10.2
38perineurioma10.2
39kidney disease10.2
40overnutrition10.2
41intussusception10.2
42duodenitis10.2
43vasculitis10.2
44diabetic macular edema10.2
45cervical incompetence10.2
46muscular dystrophy10.2
47dwarfism10.2
48cluster headache10.2
49hansen's disease10.2
50paroxysmal hemicrania10.2

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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Symptoms:

 51 (show all 17)
  • movement disorder
  • hypotonia
  • areflexia/hyporeflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • autosomal recessive inheritance
  • preauricular/branchial tags/appendages
  • rib number anomalies
  • abnormal cry/voice/phonation disorder/nasal speech
  • lymphedema
  • mutiple fractures/bone fragility
  • restricted joint mobility/joint stiffness/ankylosis
  • stillbirth/neonatal death
  • polyhydramnios
  • intrauterine growth retardation

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

Drugs & Therapeutics for Proximal Spinal Muscular Atrophy

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Skin, Skeletal muscle, Bone, Lung, Myeloid, B cells, Prostate

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 49)    (show all 53)
idTitleAuthorsYear
1
Diagnosis (20023675)
Acute gastri
2
Endometrial adenocarcinoma in spontaneous abortion: two cases and review of the literature. (26221400)
2015
3
High expression of E-cadherin in pleural effusion cells predicts better prognosis in lung adenocarcinoma patients. (26045824)
2015
4
Association between ST8SIA2 and the Risk of Schizophrenia and Bipolar I Disorder across Diagnostic Boundaries. (26418860)
2015
5
CRABP1 provides high malignancy of transformed mesenchymal cells and contributes to the pathogenesis of mesenchymal and neuroendocrine tumors. (24626200)
2014
6
Obstructive sleep apnea and other sleep-related syndromes. (24365301)
2014
7
Preterm twin and triplet pregnancies are at increased risk for the development of cystic periventricular leukomalacia. (22795624)
2013
8
Premature delivery due to intrauterine Candida infection that caused neonatal congenital cutaneous candidiasis: a case report. (22764835)
2013
9
AEG-1/MTDH/LYRIC in liver cancer. (23889992)
2013
10
Hypertrophic cardiomyopathy in owl monkeys (Aotus spp.). (23759531)
2013
11
The omega-3 polyunsaturated fatty acid DHA induces simultaneous apoptosis and autophagy via mitochondrial ROS-mediated Akt-mTOR signaling in prostate cancer cells expressing mutant p53. (23841076)
2013
12
Intronic SNPs of TP53 gene in chronic myeloid leukemia: Impact on drug response. (23225982)
2012
13
Adenosarcoma ovarii in a 51-year-old woman: case report. (23185809)
2012
14
Escape from human monoclonal antibody neutralization affects in vitro and in vivo fitness of severe acute respiratory syndrome coronavirus. (20144042)
2010
15
Endoscopic management of exophthalmos. (19206027)
2009
16
Cytoplasmic accumulation of activated leukocyte cell adhesion molecule is a predictor of disease progression and reduced survival in oral cancer patients. (19142865)
2009
17
Human multidrug resistance protein 7 (ABCC10) is a resistance factor for nucleoside analogues and epothilone B. (19118001)
2009
18
Evidence for a role of Mycoplasma genitalium in pelvic inflammatory disease. (18192788)
2008
19
Spontaneous and Fas-induced apoptosis of low-grade MDS erythroid precursors involves the endoplasmic reticulum. (18615109)
2008
20
CXCR3 <-> ligand-mediated skin inflammation in cutaneous lichenoid graft-versus-host disease. (18280341)
2008
21
Interleukin 21 as a target of intervention in autoimmune disease. (19022821)
2008
22
Transformation of childhood MDS-refractory anemia to acute lymphoblastic leukemia. (17921857)
2007
23
Chromosome instability and translocation t(11;18) in primary gastric marginal zone B-cell lymphoma of MALT-type. (17607663)
2007
24
TNFalpha release from peripheral blood leukocytes depends on a CRM1-mediated nuclear export. (17064665)
2006
25
Treatment of recalcitrant hidradenitis suppurativa with oral ciclosporin. (16309527)
2006
26
Role of PAX2 gene polymorphisms in Henoch-Schonlein purpura nephritis. (16509931)
2006
27
Single small-interfering RNA expression vector for silencing multiple transforming growth factor-beta pathway components. (16113239)
2005
28
The proton/amino acid cotransporter PAT2 is expressed in neurons with a different subcellular localization than its paralog PAT1. (14600155)
2004
29
Severe pre-eclampsia complicated by multiple serous effusions. (15282015)
2004
30
Cleavage of eukaryotic translation initiation factor 4GII within foot-and-mouth disease virus-infected cells: identification of the L- protease cleavage site in vitro. (15016848)
2004
31
"Munchausen by proxy syndrome": not just pathological parenting but also problematic doctoring? Another view. (12558486)
2003
32
IgG anti-cardiolipin antibodies-markers of inflammation in diabetic patients with ischemic stroke. (15526511)
2003
33
Tyrosine phosphorylation of Kv1.2 modulates its interaction with the actin-binding protein cortactin. (12151401)
2002
34
Intrauterine torsion of a wandering spleen presenting as an abdominal cystic swelling. (11051164)
2000
35
Fibroblast growth factor receptors participate in the control of mitogen-activated protein kinase activity during nerve growth factor-induced neuronal differentiation of PC12 cells. (10409634)
1999
36
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. (10029266)
1999
37
Prenatal diagnosis of limb-body wall complex. (9749415)
1998
38
Primary defect in CD8+ lymphocytes in the antibody deficiency disease (common variable immunodeficiency): abnormalities in intracellular production of interferon-gamma (IFN-gamma) in CD28+ ('cytotoxic') and CD28- ('suppressor') CD8+ subsets. (9472663)
1998
39
Functional results after restorative proctocolectomy complicated by pouchitis. (9221849)
1997
40
Histamine release from human bronchoalveolar lavage mast cells by neurokinin A and bradykinin. (9297575)
1997
41
Association of oviduct-specific glycoproteins with human and baboon (Papio anubis) ovarian oocytes and enhancement of human sperm binding to human hemizonae following in vitro incubation. (8838001)
1996
42
In vitro assembly of the component chains of fibrinogen requires endoplasmic reticulum factors. (8798716)
1996
43
Enhancement of hammerhead ribozyme catalysis by glyceraldehyde-3-phosphate dehydrogenase. (8636981)
1996
44
The combined effects of all-trans retinoic acid and granulocyte colony-stimulating factor as a differentiation induction therapy for acute promyelocytic leukemia. (7508772)
1993
45
Protein tyrosine phosphorylation is involved in osmoregulation of ionic conductances. (7690749)
1993
46
Localization of cytochrome P450 cholesterol side-chain cleavage, cytochrome P450 17 alpha-hydroxylase/17, 20-lyase, and 3 beta-hydroxysteroid dehydrogenase isomerase steroidogenic enzymes in human and rhesus monkey fetal adrenal glands: reappraisal of functional zonation. (8077311)
1993
47
Case 4. Sarcomatoid renal cell carcinoma with osteogenic metaplasia. (2913624)
1989
48
Steatocystoma multiplex. (3740892)
1986
49
Atypical presentation of tropical pulmonary eosinophilia. (3759841)
1986

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
19.6BICD2, 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
1Cajal bodyGO:001503010.3SMN1, SMN2
2perikaryonGO:004320410.2SMN1, SMN2
3cytoplasmic ribonucleoprotein granuleGO:00364649.7SMN1, SMN2
4cytoplasmGO:00057377.4BICD2, NAIP, SETX, SMN1, SMN2, SMNDC1

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

idNameGO IDScoreTop Affiliating Genes
1nuclear importGO:005117010.0SMN1, SMN2
2minus-end-directed organelle transport along microtubuleGO:00723859.7BICD2, RAB6A
3spliceosomal complex assemblyGO:00002459.7SMN1, SMN2
4spliceosomal snRNP assemblyGO:00003879.4SMN1, SMN2

Sources for Proximal Spinal Muscular Atrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet