SMA1
MCID: SPN393
MIFTS: 52

Spinal Muscular Atrophy, Type I (SMA1)

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

Aliases & Classifications for Spinal Muscular Atrophy, Type I

MalaCards integrated aliases for Spinal Muscular Atrophy, Type I:

Name: Spinal Muscular Atrophy, Type I 56
Werdnig-Hoffmann Disease 56 12 74 52 58 29 54 6 15
Sma1 56 12 52 58 73
Spinal Muscular Atrophy 1 12 52 73
Proximal Spinal Muscular Atrophy Type 1 52 58
Muscular Atrophy, Infantile 56 52
Infantile Muscular Atrophy 12 73
Sma, Infantile Acute Form 56 52
Spinal Muscular Atrophy-1 56 13
Hmn Proximal Type I 12 71
Sma Type 1 52 58
Sma Type I 52 58
Sma I 56 73
Sma-I 52 58
Hereditary Motor Neuropathy Proximal Type I 12
Proximal Hereditary Motor Neuropathy Type I 73
Proximal Spinal Muscular Atrophy, Type 1 52
Progressive Muscular Atrophy of Infancy 12
Infantile Spinal Muscular Atrophy 58
Atrophy, Muscular, Spinal, Type 1 39
Spinal Muscular Atrophy Type I 73
Werdnig Hoffmann Disease 52
Sma Infantile Acute Form 73
Werdnig-Hoffman Disease 73

Characteristics:

Orphanet epidemiological data:

58
proximal spinal muscular atrophy type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death secondary to respiratory infection or failure before age 2 years
onset birth to 6 months
incidence 1 in 6,000 to 1 in 8,000 live births
approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, ), which may play a role in modifying disease severity
exon 7 of smn1 is absent in 95.6% of sma1 patients


HPO:

31
spinal muscular atrophy, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:13137
OMIM 56 253300
ICD9CM 34 335.0
MeSH 43 D014897
NCIt 49 C98670
SNOMED-CT 67 64383006
ICD10 32 G12.0
ICD10 via Orphanet 33 G12.0
UMLS via Orphanet 72 C0043116
Orphanet 58 ORPHA83330
MedGen 41 C0043116
UMLS 71 C0043116

Summaries for Spinal Muscular Atrophy, Type I

NIH Rare Diseases : 52 Spinal muscular atrophy 1 (SMA1) , also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, 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 (pathogenic variants also called mutations ) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Diagnosis of SMA1 is suspected by symptoms and confirmed by genetic testing . SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing. This occurred because treatments are being developed that are changing the course of the disease. In December 2016, nusinersen (Spinraza) became the first FDA approved treatment for SMA1. Continued treatment with nusinersen is allowing many babies with SMA1 to reach and maintain age appropriate developmental milestones, including sitting, crawling, and walking. On average, breathing problems, nutrition problems, and hospital admissions have also decreased. However, response to treatment does vary. Some babies with SMA1 may not respond to the nusinersen at all or may have medical complications that prevent use of the treatment. Other treatments remain supportive.

MalaCards based summary : Spinal Muscular Atrophy, Type I, also known as werdnig-hoffmann disease, is related to spinal muscular atrophy and proximal spinal muscular atrophy. An important gene associated with Spinal Muscular Atrophy, Type I is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Acetaminophen and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes, and related phenotypes are recurrent respiratory infections and atrial septal defect

Disease Ontology : 12 A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted.

OMIM : 56 Spinal muscular atrophy refers to a group of autosomal recessive neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy (summary by Wirth, 2000). Four types of SMA are recognized depending on the age of onset, the maximum muscular activity achieved, and survivorship: type I, severe infantile acute SMA, or Werdnig-Hoffman disease; type II (253550), or infantile chronic SMA; type III (253400), juvenile SMA, or Wohlfart-Kugelberg-Welander disease; and type IV (271150), or adult-onset SMA. All types are caused by recessive mutations in the SMN1 gene. Lunn and Wang (2008) provided a detailed review of clinical features, molecular pathogenesis, and therapeutic strategies for SMA. (253300)

UniProtKB/Swiss-Prot : 73 Spinal muscular atrophy 1: A form of spinal muscular atrophy, a group of neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Autosomal recessive forms are classified according to the age of onset, the maximum muscular activity achieved, and survivorship. The severity of the disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amount of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is a severe form, with onset before 6 months of age. SMA1 patients never achieve the ability to sit.

Wikipedia : 74 Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor... more...

Related Diseases for Spinal Muscular Atrophy, Type I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 33.4 SMN2 SMN1 SCO2 NAIP IGHMBP2 GTF2H2
2 proximal spinal muscular atrophy 32.6 SMN2 SMN1 NAIP
3 muscular atrophy 32.0 SMN2 SMN1 NAIP IGHMBP2 GTF2H2 GEMIN2
4 motor neuron disease 31.7 SYP SMN2 SMN1 NAIP
5 amyotrophic lateral sclerosis 1 31.6 SYP SMN2 SMN1 SACM1L NAIP IGHMBP2
6 neuromuscular disease 31.3 SMN2 SMN1 NAIP IGHMBP2
7 anterior horn cell disease 31.2 SMN2 SMN1 IGHMBP2
8 spinal muscular atrophy, distal, autosomal recessive, 1 31.2 SMN2 SMN1 IGHMBP2
9 spinal muscular atrophy, type ii 31.0 UNC119 SMN2 SMN1 NAIP IGHMBP2
10 neuronopathy, distal hereditary motor, type va 30.8 SMN2 SMN1 IGHMBP2
11 spinal muscular atrophy, type iii 30.5 UNC119 SMN2 SMN1 NAIP IGHMBP2 GTF2H2
12 progressive muscular atrophy 30.5 SMN2 SMN1
13 childhood spinal muscular atrophy 29.3 WASH2P UNC119 TMEM47 ST8SIA4 SMN2 SMN1
14 pontocerebellar hypoplasia type 1 11.8
15 spinal muscular atrophy, x-linked 2 11.7
16 spinal muscular atrophy with congenital bone fractures 1 11.7
17 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.2
18 spinal and bulbar muscular atrophy, x-linked 1 11.2
19 pontocerebellar hypoplasia, type 1a 11.2
20 lateral sclerosis 10.8
21 myopathy 10.6
22 autosomal recessive distal hereditary motor neuronopathy 10.5 SMN2 SMN1 IGHMBP2
23 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.5 SMN2 SMN1
24 spinal muscular atrophy, type iv 10.5 SMN2 SMN1 NAIP
25 amelogenesis imperfecta, type ia 10.5 SMN2 SMN1
26 dubowitz syndrome 10.5 SMN2 SMN1
27 spinal muscular atrophy with progressive myoclonic epilepsy 10.4 SMN2 SMN1
28 amyotonia congenita 10.4
29 myopathy, congenital 10.4
30 alkuraya-kucinskas syndrome 10.4
31 distal arthrogryposis 10.4
32 cerebellar hypoplasia 10.4
33 peripheral nervous system disease 10.4
34 wallerian degeneration 10.4
35 congenital amyoplasia 10.4
36 hypotonia 10.4
37 volvulus of midgut 10.3
38 neurogenic bladder 10.3
39 orofaciodigital syndrome 10.3
40 hypertonia 10.3
41 spinal disease 10.3 SMN2 SMN1 NAIP
42 congenital contractures 10.3
43 spherocytosis, type 1 10.3 ST8SIA4 SLC9A1 SFI1 SALL1 SACM1L CNOT1
44 diabetes insipidus, nephrogenic, autosomal 10.3
45 multiple system atrophy 1 10.3
46 ataxia-telangiectasia 10.3
47 cryptorchidism, unilateral or bilateral 10.3
48 cystic fibrosis 10.3
49 mitochondrial complex iv deficiency 10.3
50 ataxia and polyneuropathy, adult-onset 10.3

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



Diseases related to Spinal Muscular Atrophy, Type I

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type I

Human phenotypes related to Spinal Muscular Atrophy, Type I:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 atrial septal defect 31 HP:0001631
3 respiratory insufficiency 31 HP:0002093
4 proximal muscle weakness in lower limbs 31 HP:0008994
5 areflexia 31 HP:0001284
6 ventricular septal defect 31 HP:0001629
7 decreased fetal movement 31 HP:0001558
8 respiratory failure 31 HP:0002878
9 proximal amyotrophy 31 HP:0007126
10 emg: neuropathic changes 31 HP:0003445
11 tongue fasciculations 31 HP:0001308
12 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
atrial septal defect
ventricular septal defect
congenital cardiac malformations have been rarely reported in severe cases

Prenatal Manifestations Movement:
decreased fetal movement

Neurologic Central Nervous System:
areflexia
muscle atrophy
emg shows neurogenic abnormalities
muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy
affected children are unable to sit without support
more
Respiratory:
respiratory failure

Clinical features from OMIM:

253300

Drugs & Therapeutics for Spinal Muscular Atrophy, Type I

Drugs for Spinal Muscular Atrophy, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2 Analgesics, Non-Narcotic Phase 4
3 Analgesics Phase 4
4 Antipyretics Phase 4
5
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
6
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
7 Neurotransmitter Agents Phase 1, Phase 2
8 carnitine Phase 1, Phase 2
9 Psychotropic Drugs Phase 1, Phase 2
10 Anticonvulsants Phase 1, Phase 2
11 4-phenylbutyric acid Phase 1, Phase 2

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
2 A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 Enrolling by invitation NCT04042025 Phase 4
3 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Completed NCT03306277 Phase 3
4 Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Recruiting NCT03837184 Phase 3
5 European, Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion Active, not recruiting NCT03461289 Phase 3
6 The Effectiveness of Allogeneic Adipose Derived Mesenchymal Stem Cells (ADMSCs) in the Phenotypic Changes of Werdnig Hoffman Patients Unknown status NCT02855112 Phase 1, Phase 2
7 Phase I/II Trial of Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy Type I (CARNI-VAL Type I) Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
8 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea;Placebo to match hydroxyurea
9 Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
10 Phase I/IIa Clinical Trial of Sodium Phenylbutyrate in Pediatric Subjects With Type I Spinal Muscular Atrophy Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
11 Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101 Completed NCT02122952 Phase 1
12 Evaluation of Palliative and Supportive Care for Spinal Muscular Atrophy (SMA) Type 1 Patients Completed NCT01862042
13 Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy Completed NCT03223051
14 International Spinal Muscular Atrophy Patient Registry Completed NCT00466349
15 Natural History of Spinal Muscular Atrophy Type 1 in Taiwan Completed NCT02466529
16 The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs Completed NCT04228718
17 Prospective Evaluation of Infants With Spinal Muscular Atrophy: SPOT SMA Recruiting NCT02831296
18 Controlled Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II Recruiting NCT03395795
19 A Registered Cohort Study on Spinal Muscular Atrophy Recruiting NCT04010604
20 UK Spinal Muscular Atrophy Patient Registry Recruiting NCT04292574
21 A Long Term Follow up Safety Study of Patients in the AVXS-101-CL-101 Gene Replacement Therapy Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS 101 Active, not recruiting NCT03421977
22 Physical Exercise and Neuromuscular Diseases: Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy Active, not recruiting NCT02061189
23 A Pilot Study of the Natural History of Infants With Spinal Muscular Atrophy (SMA) Type 1 Terminated NCT01547871

Search NIH Clinical Center for Spinal Muscular Atrophy, Type I

Genetic Tests for Spinal Muscular Atrophy, Type I

Genetic tests related to Spinal Muscular Atrophy, Type I:

# Genetic test Affiliating Genes
1 Werdnig-Hoffmann Disease 29 SMN1

Anatomical Context for Spinal Muscular Atrophy, Type I

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type I:

40
Spinal Cord, Brain, Testes, Tongue, Bone, Heart, Skeletal Muscle

Publications for Spinal Muscular Atrophy, Type I

Articles related to Spinal Muscular Atrophy, Type I:

(show top 50) (show all 423)
# Title Authors PMID Year
1
Identification and characterization of a spinal muscular atrophy-determining gene. 56 6
7813012 1995
2
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling. 54 56
19780763 2009
3
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). 61 56
20162870 2009
4
Congenital heart disease is a feature of severe infantile spinal muscular atrophy. 56 54
18662980 2008
5
Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. 61 56
16116135 2005
6
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. 6 54
8922999 1996
7
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. 61 56
8730281 1996
8
The natural history of type I (severe) spinal muscular atrophy. 56 61
7881295 1994
9
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. 61 56
1348092 1992
10
Prevalence of type I spinal muscular atrophy in North Dakota. 61 56
1785637 1991
11
A hungarian study on Werdnig-Hoffmann disease. 61 56
2614795 1989
12
Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island. 61 56
6467653 1984
13
Werdnig-Hoffmann disease. The effects of intrauterine onset on lung growth. 56 61
747396 1978
14
High incidence of spinal muscular atrophy type I (Werdnig - Hoffmann disease) in the Karaite community in Israel. 61 56
912942 1977
15
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. 6
27939059 2016
16
SMN regulates axonal local translation via miR-183/mTOR pathway. 56
25055867 2014
17
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. 56
25104390 2014
18
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. 56
23263861 2013
19
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 56
22975760 2013
20
A novel function for the survival motoneuron protein as a translational regulator. 6
23136128 2013
21
Clinical utility gene card for: proximal spinal muscular atrophy. 6
22510849 2012
22
A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. 56
21610747 2011
23
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. 56
20705736 2010
24
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. 56
20937953 2010
25
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. 56
20442745 2010
26
Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. 56
20176735 2010
27
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. 56
20097679 2010
28
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. 56
19897588 2010
29
Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. 56
19884170 2010
30
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. 56
19625298 2009
31
Differences in SMN1 allele frequencies among ethnic groups within North America. 56
19625283 2009
32
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. 56
19329542 2009
33
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. 56
19010792 2009
34
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. 56
19050931 2009
35
Induced pluripotent stem cells from a spinal muscular atrophy patient. 56
19098894 2009
36
Carrier frequency of spinal muscular atrophy. 56
18984183 2008
37
Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. 56
18661558 2008
38
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. 56
18492800 2008
39
Unaffected patients with a homozygous absence of the SMN1 gene. 56
18337729 2008
40
Spinal muscular atrophy. 56
18572081 2008
41
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. 56
18440926 2008
42
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. 56
18178576 2008
43
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. 56
17932121 2008
44
5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells. 56
17924536 2008
45
The changing natural history of spinal muscular atrophy type 1. 56
17998484 2007
46
Consensus statement for standard of care in spinal muscular atrophy. 6
17761659 2007
47
Stat5 constitutive activation rescues defects in spinal muscular atrophy. 56
17220171 2007
48
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. 56
16607616 2006
49
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. 56
16049920 2005
50
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 6
15580564 2005

Variations for Spinal Muscular Atrophy, Type I

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type I:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMN1 deletion Pathogenic 431179 rs1554082110 5:70241892-70242002 5:70946065-70946175
2 SMN1 NM_000344.3(SMN1):c.770_780dup (p.Gly261fs)duplication Pathogenic 586627 rs1561500847 5:70241936-70241937 5:70946109-70946110
3 SMN1 NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs)short repeat Pathogenic 634947 5:70238308-70238311 5:70942481-70942484
4 SMN1 NC_000005.10:g.70936291_70945268deldeletion Pathogenic 692109
5 IGHMBP2 NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)SNV Pathogenic 9112 rs137852665 11:68701934-68701934 11:68934466-68934466
6 IGHMBP2 NM_002180.2(IGHMBP2):c.121C>T (p.Gln41Ter)SNV Pathogenic 9115 rs137852668 11:68673571-68673571 11:68906103-68906103
7 IGHMBP2 NM_002180.2(IGHMBP2):c.675del (p.Glu226fs)deletion Pathogenic 9116 rs786205089 11:68679034-68679034 11:68911566-68911566
8 IGHMBP2 NM_002180.2(IGHMBP2):c.707T>G (p.Leu236Ter)SNV Pathogenic 9117 rs137852669 11:68679067-68679067 11:68911599-68911599
9 IGHMBP2 NM_002180.2(IGHMBP2):c.1107C>G (p.Phe369Leu)SNV Pathogenic 9119 rs137852670 11:68696697-68696697 11:68929229-68929229
10 IGHMBP2 NC_000011.10:g.(68906754_68906786)_(68925257_68925289)deldeletion Pathogenic 9120 11:68674222-68692757 11:68906754-68925289
11 SMN1 SMN1, 11-BP DUP, 801-811duplication Pathogenic 9163
12 SMN1 NM_001297715.1(SMN1):c.835-497G>TSNV Pathogenic 9167 rs76163360 5:70247769-70247769 5:70951942-70951942
13 SMN1 SMN1, 5-BP DEL, 425deletion Pathogenic 9171
14 SMN1 NM_000344.3(SMN1):c.332C>G (p.Ala111Gly)SNV Pathogenic 9177 rs104893935 5:70238243-70238243 5:70942416-70942416
15 SMN1 NM_000344.3(SMN1):c.346A>T (p.Ile116Phe)SNV Pathogenic 9179 rs104893933 5:70238257-70238257 5:70942430-70942430
16 SMN1 NM_000344.3(SMN1):c.406C>G (p.Gln136Glu)SNV Pathogenic 9180 rs104893934 5:70238317-70238317 5:70942490-70942490
17 SMN1 NM_000344.3(SMN1):c.835-2A>GSNV Pathogenic/Likely pathogenic 632985 rs141760116 5:70247766-70247766 5:70951939-70951939
18 SMN1 NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys)SNV Pathogenic/Likely pathogenic 9166 rs104893922 5:70241984-70241984 5:70946157-70946157
19 IGHMBP2 NM_002180.2(IGHMBP2):c.2611+1G>TSNV Pathogenic/Likely pathogenic 9118 rs786205090 11:68704560-68704560 11:68937092-68937092
20 IGHMBP2 NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg)SNV Likely pathogenic 9113 rs137852666 11:68678998-68678998 11:68911530-68911530
21 IGHMBP2 NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)SNV Likely pathogenic 9114 rs137852667 11:68702872-68702872 11:68935404-68935404
22 SMN1 NM_000344.3(SMN1):c.490C>A (p.Gln164Lys)SNV Uncertain significance 634937 rs1561499713 5:70238560-70238560 5:70942733-70942733
23 SMN1 NM_000344.3(SMN1):c.840C>T (p.Phe280=)SNV Benign 586628 rs1164325688 5:70247773-70247773 5:70951946-70951946

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Type I:

73
# Symbol AA change Variation ID SNP ID
1 SMN1 p.Tyr272Cys VAR_005617 rs104893922
2 SMN1 p.Gly279Val VAR_005620 rs76163360
3 SMN1 p.Ile116Phe VAR_034807 rs104893933
4 SMN1 p.Gln136Glu VAR_034808 rs104893934

Expression for Spinal Muscular Atrophy, Type I

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

Pathways for Spinal Muscular Atrophy, Type I

GO Terms for Spinal Muscular Atrophy, Type I

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

# Name GO ID Score Top Affiliating Genes
1 SMN-Sm protein complex GO:0034719 9.33 SMN2 SMN1 GEMIN2
2 Gemini of coiled bodies GO:0097504 9.13 SMN2 SMN1 GEMIN2
3 SMN complex GO:0032797 8.8 SMN2 SMN1 GEMIN2

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.72 UNC119 ST8SIA4 SMN2 SMN1 NAIP
2 spliceosomal snRNP assembly GO:0000387 9.33 SMN2 SMN1 GEMIN2
3 DNA-templated transcription, termination GO:0006353 9.26 SMN2 SMN1
4 spliceosomal complex assembly GO:0000245 9.13 SMN2 SMN1 GEMIN2
5 import into nucleus GO:0051170 8.8 SMN2 SMN1 GEMIN2

Sources for Spinal Muscular Atrophy, Type I

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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