MCID: SPN444
MIFTS: 22

Spinal Muscular Atrophy Type 0

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 15
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 muscular atrophy. An important gene associated with Spinal Muscular Atrophy Type 0 is MTM1 (Myotubularin 1). Affiliated tissues include brain, and related phenotype is muscle.

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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 31.2 SMN2 SMN1 MTM1 MAPT
2 muscular atrophy 30.4 SMN2 SMN1 MAPT
3 spinal muscular atrophy, type i 29.9 SMN2 SMN1
4 respiratory failure 29.8 MTM1 MAPT KLHL40
5 neuromuscular disease 29.6 SMN2 SMN1 MTM1
6 myopathy 29.0 SMN1 RPS27A MTM1 MAPT KLHL40
7 congenital amyoplasia 10.4
8 hypotonia 10.3
9 aspiration pneumonia 10.1
10 exanthem 10.1
11 dysphagia 10.1
12 cerebral cortical dysplasia 10.1 RPS27A MAPT
13 corticobasal degeneration 10.1 RPS27A MAPT
14 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.1 RPS27A MAPT
15 semantic dementia 10.1 RPS27A MAPT
16 neuronal intranuclear inclusion disease 10.1 RPS27A MAPT
17 rem sleep behavior disorder 10.0 RPS27A MAPT
18 olivopontocerebellar atrophy 10.0 RPS27A MAPT
19 congenital structural myopathy 10.0 MTM1 KLHL40
20 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 RPS27A MAPT
21 batten-turner congenital myopathy 10.0 MTM1 KLHL40
22 inclusion body myositis 10.0 RPS27A MAPT
23 multiple system atrophy 1 10.0 RPS27A MAPT
24 supranuclear palsy, progressive, 1 9.9 RPS27A MAPT
25 multiple pterygium syndrome, escobar variant 9.9 MTM1 KLHL40
26 congenital fiber-type disproportion 9.9 MTM1 KLHL40
27 dementia, lewy body 9.9 RPS27A MAPT
28 spinal muscular atrophy, x-linked 2 9.9 SMN2 SMN1
29 nephrolithiasis/osteoporosis, hypophosphatemic, 2 9.9 SMN2 SMN1
30 centronuclear myopathy 9.9 MTM1 KLHL40
31 autosomal recessive distal hereditary motor neuronopathy 9.9 SMN2 SMN1
32 chronic inflammatory demyelinating polyneuritis 9.9 SMN2 SMN1
33 anterior horn cell disease 9.9 SMN2 SMN1
34 proximal spinal muscular atrophy 9.9 SMN2 SMN1
35 spinal muscular atrophy, distal, autosomal recessive, 4 9.9 SMN2 SMN1
36 spinal muscular atrophy, distal, autosomal recessive, 1 9.8 SMN2 SMN1
37 dubowitz syndrome 9.8 SMN2 SMN1
38 spinal muscular atrophy with progressive myoclonic epilepsy 9.8 SMN2 SMN1
39 progressive muscular atrophy 9.8 SMN2 SMN1
40 childhood spinal muscular atrophy 9.8 SMN2 SMN1
41 pick disease of brain 9.8 RPS27A MAPT
42 spinal muscular atrophy, type iv 9.8 SMN2 SMN1
43 neuropathy, hereditary sensory and autonomic, type iii 9.8 SMN2 SMN1
44 spinal muscular atrophy, type ii 9.8 SMN2 SMN1
45 spinal muscular atrophy, type iii 9.8 SMN2 SMN1
46 tay-sachs disease 9.8 SMN2 SMN1
47 spinal and bulbar muscular atrophy, x-linked 1 9.8 SMN2 SMN1
48 muscle tissue disease 9.6 SMN2 SMN1 MTM1
49 muscular disease 9.6 SMN2 SMN1 MTM1
50 charcot-marie-tooth disease, axonal, type 2e 9.6 SMN2 SMN1 MTM1

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

MGI Mouse Phenotypes related to Spinal Muscular Atrophy Type 0:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 KLHL40 MAPT MTM1 SMN2

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

GO Terms for Spinal Muscular Atrophy Type 0

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 SMN2 SMN1 RPS27A MTM1 MAPT KLHL40
2 cell projection GO:0042995 9.67 SMN2 SMN1 MTM1 MAPT
3 neuron projection GO:0043005 9.61 SMN2 SMN1 MAPT
4 axon GO:0030424 9.58 SMN2 SMN1 MAPT
5 Z disc GO:0030018 9.48 SMN2 SMN1
6 Cajal body GO:0015030 9.46 SMN2 SMN1
7 I band GO:0031674 9.32 MTM1 KLHL40
8 SMN-Sm protein complex GO:0034719 9.26 SMN2 SMN1
9 Gemini of coiled bodies GO:0097504 9.16 SMN2 SMN1
10 SMN complex GO:0032797 8.96 SMN2 SMN1
11 cytoplasmic ribonucleoprotein granule GO:0036464 8.8 SMN2 SMN1 MAPT

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032435 9.32 MTM1 KLHL40
2 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
3 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
4 import into nucleus GO:0051170 8.96 SMN2 SMN1
5 DNA-templated transcription, termination GO:0006353 8.62 SMN2 SMN1

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 8.96 MTM1 MAPT
2 RNA binding GO:0003723 8.92 SMN2 SMN1 RPS27A MAPT

Sources for Spinal Muscular Atrophy Type 0

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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