MCID: SPN393
MIFTS: 50

Spinal Muscular Atrophy, Type I

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

Aliases & Classifications for Spinal Muscular Atrophy, Type I

MalaCards integrated aliases for Spinal Muscular Atrophy, Type I:

Name: Spinal Muscular Atrophy, Type I 57
Werdnig-Hoffmann Disease 57 12 53 59 29 55 6 15
Sma1 57 53 59 75
Werdnig-Hoffman Disease 12 54 75
Proximal Spinal Muscular Atrophy Type 1 53 59
Muscular Atrophy, Infantile 57 53
Infantile Muscular Atrophy 12 75
Sma, Infantile Acute Form 57 53
Spinal Muscular Atrophy-1 57 13
Spinal Muscular Atrophy 1 53 75
Hmn Proximal Type I 12 73
Sma Type 1 53 59
Sma Type I 53 59
Sma I 57 75
Sma-I 53 59
Hereditary Motor Neuropathy Proximal Type I 12
Proximal Hereditary Motor Neuropathy Type I 75
Proximal Spinal Muscular Atrophy, Type 1 53
Progressive Muscular Atrophy of Infancy 12
Infantile Spinal Muscular Atrophy 59
Atrophy, Muscular, Spinal, Type 1 40
Spinal Muscular Atrophy Type I 75
Werdnig Hoffmann Disease 53
Sma Infantile Acute Form 75

Characteristics:

Orphanet epidemiological data:

59
proximal spinal muscular atrophy type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
spinal muscular atrophy, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 253300
Disease Ontology 12 DOID:13137
ICD10 33 G12.0
ICD9CM 35 335.0
MeSH 44 D014897
NCIt 50 C98670
Orphanet 59 ORPHA83330
UMLS via Orphanet 74 C0043116
ICD10 via Orphanet 34 G12.0
MedGen 42 C0043116
UMLS 73 C0043116

Summaries for Spinal Muscular Atrophy, Type I

NINDS : 54 Spinal Muscular Atrophy (SMA) Types I, II, and III belong to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA (I, II, or III) is determined by the age of onset and the severity of symptoms. Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Type II (the intermediate form) usually begins 6 and 18 months of age. Legs tend to be more impaired than arms. Children with Type II may able to sit and some may be able to stand or walk with help. Symptoms of Type III (also called Kugelberg-Welander disease) appear between 2 and 17 years of age and include difficulty running, climbing steps, or rising from a chair.  The lower extremities are most often affected.  Complications include scoliosis and chronic shortening of muscles or tendons around joints.  

MalaCards based summary : Spinal Muscular Atrophy, Type I, also known as werdnig-hoffmann disease, is related to spinal muscular atrophy, type iii and spinal muscular atrophy, type ii. An important gene associated with Spinal Muscular Atrophy, Type I is SMN1 (Survival Of Motor Neuron 1, Telomeric). The drugs Hydroxyurea and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and tongue, and related phenotypes are areflexia and tongue fasciculations

OMIM : 57 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 : 75 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.

NIH Rare Diseases : 53 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.

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
Juvenile Spinal Muscular Atrophy 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 all 29)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy, type iii 31.3 NAIP SMN1 SMN2
2 spinal muscular atrophy, type ii 31.3 NAIP SMN1 SMN2
3 proximal spinal muscular atrophy 31.0 NAIP SMN1 SMN2
4 muscular atrophy 29.1 IGHMBP2 NAIP SMN1 SMN2 VRK1
5 spinal muscular atrophy 27.5 IGHMBP2 MAP1B NAIP SCO2 SMN1 SMN2
6 survival motor neuron spinal muscular atrophy 27.0 COX14 MAP1B NAIP SMN1 SMN2 VRK1
7 spinal muscular atrophy, type i, with congenital bone fractures 12.2
8 pontocerebellar hypoplasia, type 1a 12.1
9 spinal muscular atrophy, distal, autosomal recessive, 1 11.3
10 spinal muscular atrophy, x-linked 2 11.3
11 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant 11.2
12 type i 10.6
13 spinal muscular atrophy, type iv 10.2 SMN1 SMN2
14 progressive muscular atrophy 10.1 SMN1 SMN2
15 functional colonic disease 9.9 HSPG2 SYP
16 differentiating neuroblastoma 9.9 MAP1B SMN1
17 epileptic encephalopathy, early infantile, 3 9.9
18 epileptic encephalopathy, early infantile, 4 9.9
19 early myoclonic encephalopathy 9.9
20 encephalopathy 9.9
21 juvenile spinal muscular atrophy 9.9 NAIP SMN1 SMN2
22 colonic pseudo-obstruction 9.8 HSPG2 SYP
23 spinal disease 9.8 NAIP SMN1 SMN2
24 muscle tissue disease 9.8 NAIP SMN1 SMN2
25 neuromuscular disease 9.8 NAIP SMN1 SMN2
26 motor neuron disease 9.7 NAIP SMN1 SMN2
27 peripheral nervous system disease 9.6 SMN1 SMN2
28 anterior horn cell disease 9.3 IGHMBP2 SMN1 SMN2 VRK1
29 amyotrophic lateral sclerosis 1 9.1 NAIP SMN1 SMN2 SYP

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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial septal defect
ventricular septal defect
congenital cardiac malformations have been rarely reported in severe cases

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

Prenatal Manifestations Movement:
decreased fetal movement


Clinical features from OMIM:

253300

Human phenotypes related to Spinal Muscular Atrophy, Type I:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 areflexia 32 HP:0001284
2 tongue fasciculations 32 HP:0001308
3 decreased fetal movement 32 HP:0001558
4 ventricular septal defect 32 HP:0001629
5 atrial septal defect 32 HP:0001631
6 respiratory insufficiency 32 HP:0002093
7 recurrent respiratory infections 32 HP:0002205
8 respiratory failure 32 HP:0002878
9 emg 32 HP:0003445
10 proximal amyotrophy 32 HP:0007126
11 spinal muscular atrophy 32 HP:0007269
12 proximal muscle weakness in lower limbs 32 HP:0008994

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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
2
Valproic Acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
3 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
4 Anticonvulsants Phase 1, Phase 2
5 Antimanic Agents Phase 1, Phase 2
6 Central Nervous System Depressants Phase 1, Phase 2
7 GABA Agents Phase 1, Phase 2
8 Neurotransmitter Agents Phase 1, Phase 2
9 Psychotropic Drugs Phase 1, Phase 2
10 Tranquilizing Agents Phase 1, Phase 2
11 4-phenylbutyric acid Phase 1, Phase 2,Phase 2
12 carnitine Nutraceutical Phase 1, Phase 2
13
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Gene Replacement Therapy Clinical Trial for Patients With Spinal Muscular Atrophy Type 1 Active, not recruiting NCT03306277 Phase 3
2 A Pilot Therapeutic Trial Using Hydroxyurea in Type I Spinal Muscular Atrophy Patients Completed NCT00568698 Phase 1, Phase 2 Hydroxyurea
3 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I Completed NCT00661453 Phase 1, Phase 2 Valproic Acid and Levocarnitine
4 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy Completed NCT00528268 Phase 1, Phase 2 Sodium phenylbutyrate (NaPB)
5 Allogeneic Adipose Derived Stem Cells for Werdnig Hoffman Patients Recruiting NCT02855112 Phase 1, Phase 2
6 Clinical Trial of Sodium Phenylbutyrate in Children With Spinal Muscular Atrophy Type I Terminated NCT00439218 Phase 1, Phase 2 sodium phenylbutyrate
7 Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Completed NCT02122952 Phase 1
8 Smartphone Application, Mood and Stress Completed NCT02365220 Not Applicable
9 A Pilot Study of Biomarkers for Spinal Muscular Atrophy Completed NCT00756821
10 Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development Completed NCT01736553
11 Natural History of Spinal Muscular Atrophy Type 1 in Taiwan Completed NCT02466529
12 Trial Evaluating the Interest of Noninvasive Ventilation in NAVA Mode in Respiratory Decompensations Children With Infantile Spinal Muscular Atrophy Type II Recruiting NCT03395795 Not Applicable
13 Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy (SMA) Recruiting NCT02061189 Not Applicable
14 Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy Recruiting NCT03223051 Not Applicable
15 Prospective Evaluation of Infants With Spinal Muscular Atrophy: Recruiting NCT02831296
16 Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA) Recruiting NCT03520179
17 Palliative Care in Spinal Muscular Atrophy (SMA) 1 Active, not recruiting NCT01862042 Not Applicable
18 International SMA Patient Registry Active, not recruiting NCT00466349
19 Long-Term Follow-up Study for Patients From AVXS-101-CL-101 Enrolling by invitation NCT03421977
20 Infants With Spinal Muscular Atrophy Type I 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:

41
Spinal Cord, Brain, Tongue, Bone, Thalamus, Heart, Lung

Publications for Spinal Muscular Atrophy, Type I

Articles related to Spinal Muscular Atrophy, Type I:

(show top 50) (show all 126)
# Title Authors Year
1
Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. ( 28384258 )
2017
2
Clinical trial of L-carnitine and valproic acid in spinal muscular atrophy type I. ( 28833236 )
2017
3
Spinal Muscular Atrophy, types I and II: What are the differences inA body composition and resting energy expenditure? ( 27890489 )
2016
4
Early disruption of neurovascular units and microcirculatory dysfunction in the spinal cord in spinal muscular atrophy type I. ( 26433686 )
2015
5
Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature. ( 25225621 )
2014
6
Bilateral wrist drop at presentation in a child with spinal muscular atrophy type I. ( 25364568 )
2014
7
Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. ( 23146148 )
2013
8
Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort: Correlations With Bone Health. ( 23334077 )
2013
9
Nutritional Practices at a Glance: Spinal Muscular Atrophy Type I Nutrition Survey Findings. ( 24097849 )
2013
10
Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I. ( 23542189 )
2013
11
Spinal muscular atrophy type I: do the benefits of ventilation compensate for its burdens? ( 24131113 )
2013
12
International survey of physician recommendation for tracheostomy for Spinal Muscular Atrophy Type I. ( 22170631 )
2012
13
Drug treatment for spinal muscular atrophy type I. ( 22513939 )
2012
14
Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I. ( 22832342 )
2012
15
Drug treatment for spinal muscular atrophy type I. ( 22161399 )
2011
16
Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. ( 20573738 )
2011
17
Survival analysis of spinal muscular atrophy type I. ( 21218019 )
2010
18
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. ( 20863938 )
2010
19
Parental role in the Intensive Care Unit for children affected by Werdnig Hoffmann disease. ( 20440234 )
2010
20
Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann disease. Case report. ( 20485962 )
2010
21
Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease. ( 19839757 )
2009
22
Drug treatment for spinal muscular atrophy type I. ( 19160274 )
2009
23
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). ( 20162870 )
2009
24
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. ( 18266240 )
2008
25
Long-term survival in Werdnig-Hoffmann disease. ( 17449977 )
2007
26
Medical considerations of long-term survival of Werdnig-Hoffmann disease. ( 17449979 )
2007
27
Morphological and morphometrical study of human muscle spindles in Werdnig-Hoffmann disease (infantile spinal muscular atrophy type I). ( 16730053 )
2006
28
Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. ( 16116135 )
2005
29
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. ( 14994243 )
2004
30
Prenatal diagnosis of Werdnig-Hoffmann disease in China. ( 12875676 )
2003
31
Genetic diagnosis of Werdnig-Hoffmann disease: a problem for application to prenatal diagnosis. ( 12646976 )
2003
32
Werdnig-Hoffmann disease with congenital hypothyroidism. ( 14738578 )
2003
33
Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival. ( 12121035 )
2002
34
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. ( 12020273 )
2002
35
Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease. ( 10888370 )
2000
36
Long-term ventilator support in patients with Werdnig-Hoffmann disease. ( 10986865 )
2000
37
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. ( 10665977 )
2000
38
[Werdnig-Hoffmann disease. The first prenatal diagnosis in Cuba]. ( 10652743 )
1999
39
[Cerebral agyria-pachygyria in a child with Werdnig-Hoffmann disease]. ( 10486849 )
1999
40
Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1. ( 10423316 )
1999
41
Analysis of creatine kinase activity in 504 patients with proximal spinal muscular atrophy types I-III from the point of view of progression and severity. ( 9605392 )
1998
42
MR findings of Werdnig-Hoffmann disease in two infants. ( 9541317 )
1998
43
A study of cell death in Werdnig Hoffmann disease brain. ( 9535127 )
1998
44
Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. ( 9748047 )
1998
45
Congenital cytoplasmic body myopathy with survival motor neuron gene deletion or Werdnig-Hoffmann disease. ( 9748045 )
1998
46
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease. ( 9818873 )
1998
47
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. ( 8981949 )
1997
48
Aberrant glycosylation/phosphorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease. ( 9415542 )
1997
49
Synaptic alterations of anterior horn cells in Werdnig-Hoffmann disease. ( 8858698 )
1996
50
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. ( 8730281 )
1996

Variations for Spinal Muscular Atrophy, Type I

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

75
# 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

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

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 IGHMBP2 NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys) single nucleotide variant Pathogenic rs137852665 GRCh37 Chromosome 11, 68701934: 68701934
2 IGHMBP2 NM_002180.2(IGHMBP2): c.1540G> A (p.Glu514Lys) single nucleotide variant Pathogenic rs137852665 GRCh38 Chromosome 11, 68934466: 68934466
3 IGHMBP2 NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg) single nucleotide variant Pathogenic rs137852666 GRCh37 Chromosome 11, 68678998: 68678998
4 IGHMBP2 NM_002180.2(IGHMBP2): c.638A> G (p.His213Arg) single nucleotide variant Pathogenic rs137852666 GRCh38 Chromosome 11, 68911530: 68911530
5 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
6 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh38 Chromosome 11, 68935404: 68935404
7 IGHMBP2 NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs137852668 GRCh37 Chromosome 11, 68673571: 68673571
8 IGHMBP2 NM_002180.2(IGHMBP2): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs137852668 GRCh38 Chromosome 11, 68906103: 68906103
9 IGHMBP2 NM_002180.2(IGHMBP2): c.675delT (p.Glu226Argfs) deletion Pathogenic rs786205089 GRCh38 Chromosome 11, 68911567: 68911567
10 IGHMBP2 NM_002180.2(IGHMBP2): c.675delT (p.Glu226Argfs) deletion Pathogenic rs786205089 GRCh37 Chromosome 11, 68679035: 68679035
11 IGHMBP2 NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter) single nucleotide variant Pathogenic rs137852669 GRCh37 Chromosome 11, 68679067: 68679067
12 IGHMBP2 NM_002180.2(IGHMBP2): c.707T> G (p.Leu236Ter) single nucleotide variant Pathogenic rs137852669 GRCh38 Chromosome 11, 68911599: 68911599
13 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 GRCh38 Chromosome 11, 68937092: 68937092
14 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 GRCh37 Chromosome 11, 68704560: 68704560
15 IGHMBP2 NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu) single nucleotide variant Pathogenic rs137852670 GRCh37 Chromosome 11, 68696697: 68696697
16 IGHMBP2 NM_002180.2(IGHMBP2): c.1107C> G (p.Phe369Leu) single nucleotide variant Pathogenic rs137852670 GRCh38 Chromosome 11, 68929229: 68929229
17 IGHMBP2 NG_007976.1: g.(7904_7936)_(26407_26439)del deletion Pathogenic GRCh38 Chromosome 11, 68906754: 68925289
18 IGHMBP2 NG_007976.1: g.(7904_7936)_(26407_26439)del deletion Pathogenic GRCh37 Chromosome 11, 68674222: 68692757
19 SMN1 SMN1, 11-BP DUP, 801-811 duplication Pathogenic
20 SMN1 NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs104893922 GRCh37 Chromosome 5, 70241984: 70241984
21 SMN1 NM_000344.3(SMN1): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs104893922 GRCh38 Chromosome 5, 70946157: 70946157
22 SMN1 NM_000344.3(SMN1): c.836G> T (p.Gly279Val) single nucleotide variant Pathogenic rs76163360 GRCh37 Chromosome 5, 70247769: 70247769
23 SMN1 NM_000344.3(SMN1): c.836G> T (p.Gly279Val) single nucleotide variant Pathogenic rs76163360 GRCh38 Chromosome 5, 70951942: 70951942
24 SMN1 SMN1, 5-BP DEL, 425 deletion Pathogenic
25 SMN1 SMN1, 4-BP DEL, 399AGAG deletion Pathogenic
26 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 GRCh37 Chromosome 5, 70238243: 70238243
27 SMN1 NM_000344.3(SMN1): c.332C> G (p.Ala111Gly) single nucleotide variant Pathogenic rs104893935 GRCh38 Chromosome 5, 70942416: 70942416
28 SMN1 NM_000344.3(SMN1): c.346A> T (p.Ile116Phe) single nucleotide variant Pathogenic rs104893933 GRCh37 Chromosome 5, 70238257: 70238257
29 SMN1 NM_000344.3(SMN1): c.346A> T (p.Ile116Phe) single nucleotide variant Pathogenic rs104893933 GRCh38 Chromosome 5, 70942430: 70942430
30 SMN1 NM_000344.3(SMN1): c.406C> G (p.Gln136Glu) single nucleotide variant Pathogenic rs104893934 GRCh37 Chromosome 5, 70238317: 70238317
31 SMN1 NM_000344.3(SMN1): c.406C> G (p.Gln136Glu) single nucleotide variant Pathogenic rs104893934 GRCh38 Chromosome 5, 70942490: 70942490
32 SMN1 NC_000005.9: g.70241893_70242003del deletion Pathogenic GRCh37 Chromosome 5, 70241893: 70242003

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 cell projection GO:0042995 9.71 IGHMBP2 MAP1B SMN1 SMN2
2 neuron projection GO:0043005 9.56 NAIP SMN1 SMN2 SYP
3 cytoplasmic ribonucleoprotein granule GO:0036464 9.43 SMN1 SMN2
4 Cajal body GO:0015030 9.37 SMN1 SMN2
5 perikaryon GO:0043204 9.33 NAIP SMN1 SMN2
6 SMN-Sm protein complex GO:0034719 9.32 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
8 SMN complex GO:0032797 8.8 IGHMBP2 SMN1 SMN2

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 9.56 MAP1B NAIP SMN1 SMN2
2 spliceosomal complex assembly GO:0000245 9.37 SMN1 SMN2
3 spliceosomal snRNP assembly GO:0000387 9.32 SMN1 SMN2
4 import into nucleus GO:0051170 9.16 SMN1 SMN2
5 mitochondrial respiratory chain complex IV assembly GO:0033617 8.96 COX14 SCO2
6 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Sources for Spinal Muscular Atrophy, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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