MCID: SPN315
MIFTS: 42

Spinal Muscular Atrophy-1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Oral diseases categories

Aliases & Classifications for Spinal Muscular Atrophy-1

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Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 22GTR, 55SNOMED-CT, 27ICD9CM, 33MeSH, 26ICD10 via Orphanet
See all sources

Spinal Muscular Atrophy-1, Aliases & Descriptions:

Name: Spinal Muscular Atrophy-1 45 10
Werdnig-Hoffmann Disease 9 41 11 43 47
Werdnig Hoffmann Disease 41 22
Hmn Proximal Type I 9 60
Sma1 41 47
Hereditary Motor Neuropathy Proximal Type I 9
Proximal Spinal Muscular Atrophy, Type 1 41
Progressive Muscular Atrophy of Infancy 9
 
Proximal Spinal Muscular Atrophy Type 1 47
Infantile Spinal Muscular Atrophy 47
Spinal Muscular Atrophy, Type I 45
Muscular Atrophy, Infantile 41
Infantile Muscular Atrophy 9
Sma, Infantile Acute Form 41
Spinal Muscular Atrophy 1 41
Sma-I 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
werdnig-hoffmann disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 253300
Disease Ontology9 DOID:13137
ICD9CM27 335.0
MeSH33 D014897
Orphanet47 83330
ICD10 via Orphanet26 G12.0

Summaries for Spinal Muscular Atrophy-1

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OMIM:45 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration... (253300) more...

MalaCards based summary: Spinal Muscular Atrophy-1, also known as werdnig-hoffmann disease, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including autosomal recessive inheritance, areflexia and tongue fasciculations. An important gene associated with Spinal Muscular Atrophy-1 is SMA4 (glucuronidase, beta pseudogene), and among its related pathways are RNA transport and Regulation of Glucokinase by Glucokinase Regulatory Protein. The compounds aclarubicin and ribonucleic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue.

NIH Rare Diseases:41 Spinal muscular atrophy 1 (sma1), also known as werdnig hoffmann disease, is a severe type of spinal muscular atrophy. symptoms of sma1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. feeding and breathing problems are also present. sma1 is caused by changes (mutations) in the smn1 gene and is typically inherited in an autosomal recessive manner. around 2% of cases are not inherited and are due to new mutations in the affected person. treatment is symptomatic and aims to improve quality of life. last updated: 1/21/2015

Related Diseases for Spinal Muscular Atrophy-1

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Diseases in the Spinal Muscular Atrophy family:

spinal muscular atrophy-1 Spinal Muscular Atrophy-2
Spinal Muscular Atrophy-3 Spinal Muscular Atrophy-4
Adult Spinal Muscular Atrophy Juvenile Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy Dominant Autosomal Dominant Congenital Benign Spinal Muscular Atrophy

Diseases related to Spinal Muscular Atrophy-1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy31.5SMN2, SMN1
2muscular atrophy30.6IGHMBP2, SMN1, SMN2, NAIP
3neuropathy30.5SMN2, SMN1
4spinal muscular atrophy-230.2SMN1, SMN2, NAIP
5motor neuron disease29.9IGHMBP2, SMN1, SMN2, NAIP
6juvenile spinal muscular atrophy29.7SMN1, SMN2, NAIP
7neuronitis10.9
8lateral sclerosis10.7
9spinal muscular atrophy, x-linked 2, infantile10.7
10myopathy10.5
11pontocerebellar hypoplasia type 110.4
12werdnig-hoffman disease10.3
13cystic fibrosis10.3
14ataxia-telangiectasia10.3
15mannosidosis10.3
16diabetes insipidus10.3
17locked-in syndrome10.3
18biliary atresia10.3
19nemaline myopathy10.3
20congenital hypothyroidism10.3
21hypothyroidism10.3
22laryngitis10.3
23acardia10.3
24amyotonia congenita10.3
25cerebellar hypoplasia10.3
26cytoplasmic body myopathy10.3
27ataxia10.3
28multiple system atrophy10.3
29axonal neuropathy10.3
30anterior spinal artery syndrome10.3
31congenital heart disease10.3
32pontocerebellar hypoplasia10.3
33rhabdomyosarcoma10.3
34progressive muscular atrophy10.2SMN1
35neuronopathy, distal hereditary motor, type vi10.2
36spinal muscular atrophy-310.2
37olivopontocerebellar atrophy10.1
38spinal muscular atrophy, lower extremity-predominant 1, ad10.0
39pontocerebellar hypoplasia type 1a10.0
40spinal and bulbar muscular atrophy of kennedy10.0
41spinal muscular atrophy type 1 with congenital bone fractures10.0
42autosomal recessive disease9.9SMN2, SMN1
43neuromuscular disease9.7SMN1, SMN2, NAIP
44amyotrophic lateral sclerosis 19.6SMN1, SMN2, NAIP

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy-1:



Diseases related to spinal muscular atrophy-1

Symptoms for Spinal Muscular Atrophy-1

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Symptoms by clinical synopsis from OMIM:

253300

Clinical features from OMIM:

253300

HPO human phenotypes related to Spinal Muscular Atrophy-1:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 areflexia HP:0001284
3 tongue fasciculations HP:0001308
4 decreased fetal movement HP:0001558
5 ventricular septal defect HP:0001629
6 defect in the atrial septum HP:0001631
7 recurrent respiratory infections HP:0002205
8 respiratory failure HP:0002878
9 emg HP:0003445
10 proximal amyotrophy HP:0007126
11 proximal muscle weakness in lower limbs HP:0008994

Drugs & Therapeutics for Spinal Muscular Atrophy-1

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Drug clinical trials:

Search ClinicalTrials for Spinal Muscular Atrophy-1

Search NIH Clinical Center for Spinal Muscular Atrophy-1

Genetic Tests for Spinal Muscular Atrophy-1

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Genetic tests related to Spinal Muscular Atrophy-1:

id Genetic test Affiliating Genes
1 Werdnig-Hoffmann Disease22

Anatomical Context for Spinal Muscular Atrophy-1

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MalaCards organs/tissues related to Spinal Muscular Atrophy-1:

31
Spinal cord, Brain, Tongue

Animal Models for Spinal Muscular Atrophy-1 or affiliated genes

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Publications for Spinal Muscular Atrophy-1

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Articles related to Spinal Muscular Atrophy-1:

idTitleAuthorsYear
1
Spinal muscular atrophy-1 and gastrostomy. (25041302)
2014

Variations for Spinal Muscular Atrophy-1

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UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy-1:

62
id Symbol AA change Variation ID SNP ID
1SMN1p.Tyr272CysVAR_005617
2SMN1p.Gly279ValVAR_005620
3SMN1p.Ile116PheVAR_034807
4SMN1p.Gln136GluVAR_034808

Clinvar genetic disease variations for Spinal Muscular Atrophy-1:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1IGHMBP2NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852665GRCh37Chr 11, 68701934: 68701934
2IGHMBP2NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg)single nucleotide variantPathogenicrs137852666GRCh37Chr 11, 68678998: 68678998
3IGHMBP2NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile)single nucleotide variantPathogenicrs137852667GRCh37Chr 11, 68702872: 68702872
4IGHMBP2NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter)single nucleotide variantPathogenicrs137852668GRCh37Chr 11, 68673571: 68673571
5IGHMBP2IGHMBP2, 1-BP DEL, 675TdeletionPathogenic
6IGHMBP2NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter)single nucleotide variantPathogenicrs137852669GRCh37Chr 11, 68679067: 68679067
7IGHMBP2IGHMBP2, IVS13, G-T, +1single nucleotide variantPathogenic
8IGHMBP2NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu)single nucleotide variantPathogenicrs137852670GRCh37Chr 11, 68696697: 68696697
9IGHMBP2IGHMBP2, 18.5-KB DEL, EX3-7deletionPathogenic
10SMN1SMN1, 11-BP DUP, 801-811duplicationPathogenic
11SMN1NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys)single nucleotide variantPathogenicrs104893922GRCh37Chr 5, 70241984: 70241984
12SMN1NM_000344.3(SMN1): c.836G> T (p.Gly279Val)single nucleotide variantPathogenicrs76163360GRCh37Chr 5, 70247769: 70247769
13SMN1SMN1, 5-BP DEL, 425deletionPathogenic
14SMN1SMN1, 4-BP DEL, 399AGAGdeletionPathogenic
15SMN1NM_000344.3(SMN1): c.332C> G (p.Ala111Gly)single nucleotide variantPathogenicrs104893935GRCh37Chr 5, 70238243: 70238243
16SMN1NM_000344.3(SMN1): c.346A> T (p.Ile116Phe)single nucleotide variantPathogenicrs104893933GRCh37Chr 5, 70238257: 70238257
17SMN1NM_000344.3(SMN1): c.406C> G (p.Gln136Glu)single nucleotide variantPathogenicrs104893934GRCh37Chr 5, 70238317: 70238317

Expression for genes affiliated with Spinal Muscular Atrophy-1

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Search GEO for disease gene expression data for Spinal Muscular Atrophy-1.

Compounds for genes affiliated with Spinal Muscular Atrophy-1

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
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Compounds related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1aclarubicin439.4SMN2, SMN1
2ribonucleic acid439.4SMN2, SMN1
3phenylbutyrate439.3SMN2, SMN1
4valproic acid43 49 24 1212.1SMN2, SMN1

GO Terms for genes affiliated with Spinal Muscular Atrophy-1

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Cellular components related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1SMN complexGO:00327979.3SMN2, IGHMBP2

Biological processes related to Spinal Muscular Atrophy-1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.3SMN2, IGHMBP2

Products for genes affiliated with Spinal Muscular Atrophy-1

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Sources for Spinal Muscular Atrophy-1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet