MCID: SPN444
MIFTS: 17

Spinal Muscular Atrophy Type 0

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy Type 0

MalaCards integrated aliases for Spinal Muscular Atrophy Type 0:

Name: Spinal Muscular Atrophy Type 0 12
Very Severe Spinal Muscular Atrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080667

Summaries for Spinal Muscular Atrophy Type 0

Disease Ontology : 12 A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles.

MalaCards based summary : Spinal Muscular Atrophy Type 0, also known as very severe spinal muscular atrophy, is related to spinal muscular atrophy and myopathy. An important gene associated with Spinal Muscular Atrophy Type 0 is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Apoptotic execution phase and Neuroscience. Affiliated tissues include brain.

Related Diseases for Spinal Muscular Atrophy Type 0

Diseases in the Spinal Muscular Atrophy family:

Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Iii
Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iv
Spinal Muscular Atrophy Type 0 Congenital Benign Spinal Muscular Atrophy Dominant

Diseases related to Spinal Muscular Atrophy Type 0 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 32.5 MTM1 MAPT
2 myopathy 28.7 RPS27A MTM1 MAPT
3 muscular atrophy 10.7
4 alkuraya-kucinskas syndrome 10.4
5 hypotonia 10.4
6 congenital amyoplasia 10.4
7 aspiration pneumonia 10.1
8 exanthem 10.1
9 respiratory failure 10.1
10 neuromuscular disease 10.1
11 dysphagia 10.1
12 spinal muscular atrophy, type i 10.0
13 cerebral cortical dysplasia 9.9 RPS27A MAPT
14 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 9.9 RPS27A MAPT
15 semantic dementia 9.8 RPS27A MAPT
16 dementia 9.8 RPS27A MAPT
17 corticobasal degeneration 9.8 RPS27A MAPT
18 neuronal intranuclear inclusion disease 9.8 RPS27A MAPT
19 rem sleep behavior disorder 9.8 RPS27A MAPT
20 olivopontocerebellar atrophy 9.8 RPS27A MAPT
21 leukoencephalopathy, hereditary diffuse, with spheroids 9.8 RPS27A MAPT
22 inclusion body myositis 9.8 RPS27A MAPT
23 multiple system atrophy 1 9.8 RPS27A MAPT
24 supranuclear palsy, progressive, 1 9.7 RPS27A MAPT
25 dementia, lewy body 9.7 RPS27A MAPT
26 pick disease of brain 9.7 RPS27A MAPT
27 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.6 RPS27A MAPT
28 motor neuron disease 9.5 RPS27A MAPT
29 frontotemporal dementia 9.4 RPS27A MAPT

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy Type 0:



Diseases related to Spinal Muscular Atrophy Type 0

Symptoms & Phenotypes for Spinal Muscular Atrophy Type 0

Drugs & Therapeutics for Spinal Muscular Atrophy Type 0

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy Type 0

Genetic Tests for Spinal Muscular Atrophy Type 0

Anatomical Context for Spinal Muscular Atrophy Type 0

MalaCards organs/tissues related to Spinal Muscular Atrophy Type 0:

40
Brain

Publications for Spinal Muscular Atrophy Type 0

Articles related to Spinal Muscular Atrophy Type 0:

(show all 13)
# Title Authors PMID Year
1
Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec. 61
32515646 2020
2
Case of spinal muscular atrophy type 0 with mild prognosis. 61
31916364 2020
3
Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0. 61
31502271 2019
4
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0". 61
31502291 2019
5
Severe brain involvement in 5q spinal muscular atrophy type 0. 61
31301241 2019
6
Very severe spinal muscular atrophy (Type 0). 61
28182029 2017
7
Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant. 61
24891907 2014
8
[A case of spinal muscular atrophy type 0 in Japan]. 61
23012868 2012
9
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. 61
18006961 2007
10
Motor neuron degeneration in a 20-week male fetus: spinal muscular atrophy type 0. 61
17598601 2007
11
Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy. 61
11785510 2001
12
[Very severe spinal muscular atrophy--type 0. A cause of congenital multiple arthrogryposis]. 61
11665473 2001
13
Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. 61
10700538 1999

Variations for Spinal Muscular Atrophy Type 0

Expression for Spinal Muscular Atrophy Type 0

Search GEO for disease gene expression data for Spinal Muscular Atrophy Type 0.

Pathways for Spinal Muscular Atrophy Type 0

Pathways related to Spinal Muscular Atrophy Type 0 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 RPS27A MAPT
2 11.16 RPS27A MAPT

GO Terms for Spinal Muscular Atrophy Type 0

Molecular functions related to Spinal Muscular Atrophy Type 0 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol binding GO:0035091 8.62 MTM1 MAPT

Sources for Spinal Muscular Atrophy Type 0

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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