DSMA1
MCID: SPN408
MIFTS: 47

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 (DSMA1)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 58 54 30 6 39
Smard1 58 12 54 26 60 76 56
Sianrf 58 12 54 26 60 76
Dsma1 58 12 54 26 60 76
Spinal Muscular Atrophy with Respiratory Distress 1 58 39 54 76 74
Dhmn6 58 12 26 60 76
Severe Infantile Axonal Neuropathy with Respiratory Failure 58 54 26 76
Spinal Muscular Atrophy with Respiratory Distress Type 1 12 77 26 60
Diaphragmatic Spinal Muscular Atrophy 12 26 60 76
Hmn6 58 54 26 76
Autosomal Recessive Distal Spinal Muscular Atrophy 1 12 26 15
Neuronopathy, Distal Hereditary Motor, Type Vi 58 54 13
Hmn Vi 58 54 76
Autosomal Recessive Spinal Muscular Atrophy with Respiratory Distress 12 60
Severe Infantile Axonal Neuropathy with Respiratory Failure Type 1 12 60
Neuronopathy, Severe Infantile Axonal, with Respiratory Failure 58 54
Distal Hereditary Motor Neuropathy Type 6 12 60
Distal-Hmn Type 6 12 60
Severe Infantile Axonal Neuropathy with Respiratory Failure; Sianrf 58
Severe Infantile Axonal Neuronopathy with Respiratory Failure 76
Spinal Muscular Atrophy with Respiratory Distress 1; Smard1 58
Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 60
Neuronopathy, Distal Hereditary Motor, Type Vi; Dhmn6 58
Spinal Muscular Atrophy Distal Autosomal Recessive 1 76
Spinal Muscular Atrophy with Respiratory Distress 26
Distal Hereditary Motor Neuronopathy Type Vi 26
Distal Hereditary Motor Neuropathy Type Vi 76
Atrophy, Muscular, Spinal, Distal, Type 1 41
Neuronopathy, Distal Hereditary Motor, 6 76
Spinal Muscular Atrophy, Diaphragmatic 58
Distal Spinal Muscular Atrophy Type 1 26
Dhmn Vi 76
Hmnvi 26

Characteristics:

Orphanet epidemiological data:

60
spinal muscular atrophy with respiratory distress type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset within the first 3 months of life
death usually occurs by 12 months of life


HPO:

33
spinal muscular atrophy, distal, autosomal recessive, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Genetics Home Reference : 26 Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood.

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1, also known as smard1, is related to spinal muscular atrophy and proximal spinal muscular atrophy, and has symptoms including constipation and inspiratory stridor. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways is RNA transport. Affiliated tissues include Neural Tube and Neural Tube, and related phenotypes are hyperhidrosis and failure to thrive

Disease Ontology : 12 A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 76 Neuronopathy, distal hereditary motor, 6: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

Wikipedia : 77 Distal spinal muscular atrophy type 1 (DSMA1), is a rare neuromuscular disorder involving death of motor... more...

Description from OMIM: 604320

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Diseases in the Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 family:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 30.0 IGHMBP2 SMN1 SMN2
2 proximal spinal muscular atrophy 30.0 SMN1 SMN2
3 muscular atrophy 29.8 IGHMBP2 SMN1 SMN2
4 peripheral nervous system disease 29.7 SMN1 SMN2
5 spinal muscular atrophy, type i 29.6 IGHMBP2 SMN1 SMN2
6 spinal muscular atrophy with respiratory distress type 2 11.6
7 hypertonia 10.2
8 neuropathy 10.2
9 respiratory failure 10.1
10 axonal neuropathy 10.1
11 infantile axonal neuropathy 10.1
12 severe infantile axonal neuropathy 10.1
13 distal hereditary motor neuropathies 10.1
14 myopathy, congenital 10.0
15 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.0
16 hepatitis 10.0
17 myopathy 10.0
18 juvenile amyotrophic lateral sclerosis 10.0 IGHMBP2 UPF1
19 spinal muscular atrophy, type iv 10.0 SMN1 SMN2
20 arthrogryposis multiplex congenita, neurogenic type 10.0 SMN1 SMN2
21 spinal muscular atrophy, type iii 10.0 SMN1 SMN2
22 spinal muscular atrophy, type ii 10.0 SMN1 SMN2
23 culler-jones syndrome 9.9 SMN1 SMN2
24 juvenile spinal muscular atrophy 9.9 SMN1 SMN2
25 spinal disease 9.9 SMN1 SMN2
26 progressive muscular atrophy 9.9 SMN1 SMN2
27 muscle tissue disease 9.9 SMN1 SMN2
28 neuromuscular disease 9.8 SMN1 SMN2
29 survival motor neuron spinal muscular atrophy 9.7 IGHMBP2 SMN1 SMN2
30 anterior horn cell disease 9.7 IGHMBP2 SMN1 SMN2
31 nervous system disease 9.7 SMN1 SMN2
32 muscular disease 9.7 IGHMBP2 SMN1 SMN2
33 motor neuron disease 9.6 SMN1 SMN2

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:



Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 failure to thrive 33 HP:0001508
3 constipation 33 HP:0002019
4 decreased nerve conduction velocity 33 HP:0000762
5 intrauterine growth retardation 33 HP:0001511
6 talipes equinovarus 33 HP:0001762
7 respiratory failure 33 HP:0002878
8 hyporeflexia 33 HP:0001265
9 decreased fetal movement 33 HP:0001558
10 camptodactyly of finger 33 HP:0100490
11 premature birth 33 HP:0001622
12 limb muscle weakness 33 HP:0003690
13 urinary incontinence 33 HP:0000020
14 diaphragmatic paralysis 33 HP:0006597
15 distal muscle weakness 33 HP:0002460
16 tachypnea 33 HP:0002789
17 weak cry 33 HP:0001612
18 distal amyotrophy 33 HP:0003693
19 small for gestational age 33 HP:0001518
20 emg: neuropathic changes 33 HP:0003445
21 ventilator dependence with inability to wean 33 HP:0005946
22 spinal muscular atrophy 33 HP:0007269
23 degeneration of anterior horn cells 33 HP:0002398
24 axonal degeneration 33 HP:0040078
25 diaphragmatic eventration 33 HP:0009110
26 inspiratory stridor 33 HP:0005348
27 denervation of the diaphragm 33 HP:0009109
28 peripheral axonal degeneration 33 HP:0000764

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Respiratory:
respiratory failure
tachypnea
ventilar dependence with inability to wean

Chest Diaphragm:
diaphragmatic paralysis
diaphragmatic weakness
eventration of the right or both hemidiaphragms
thin diaphragm
membranous diaphragm
more
Prenatal Manifestations Delivery:
premature delivery

Growth Weight:
low birth weight

Neurologic Central Nervous System:
degeneration of alpha-motor neurons in anterior horn cells of the spinal cord

Neurologic Peripheral Nervous System:
constipation
hyporeflexia
bladder incontinence
emg shows neurogenic changes
distal muscle weakness and atrophy (begins in lower limbs)
more
Prenatal Manifestations Movement:
decreased fetal movement

Respiratory Airways:
weak cry
inspiratory stridor

Skeletal Feet:
foot deformities
pes equinus

Skeletal Hands:
finger contractures

Prenatal Manifestations:
intrauterine growth retardation (less than tenth percentile)

Clinical features from OMIM:

604320

UMLS symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:


constipation, inspiratory stridor

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases Recruiting NCT02532244

Search NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
Neural stem cell-derived motoneurons for treatment of spinal muscular atrophy
Embryonic/Adult Cultured Cells Related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
Motor neuron progenitors

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 30 IGHMBP2

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

42
Spinal Cord, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Motor Neural Progenitor Domain Motor Neural Progenitor Cells Potential therapeutic candidate
2 Neural Tube Motor Neural Progenitor Domain Motor Neurons Affected by disease

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

(show all 29)
# Title Authors Year
1
Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). ( 29928949 )
2018
2
Selective vulnerability in neuronal populations in nmd/SMARD1 mice. ( 29272405 )
2018
3
A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1. ( 30202772 )
2018
4
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature. ( 27570397 )
2016
5
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up. ( 26709713 )
2016
6
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model. ( 26601156 )
2015
7
Growing up with spinal muscular atrophy with respiratory distress (SMARD1). ( 25454169 )
2015
8
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells. ( 24388491 )
2014
9
Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1. ( 25083343 )
2014
10
Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ. ( 23295857 )
2013
11
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). ( 22157136 )
2012
12
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. ( 21353777 )
2011
13
A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis. ( 20859832 )
2010
14
Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). ( 19776263 )
2009
15
Interfamilial phenotypic heterogeneity in SMARD1. ( 19157874 )
2009
16
Spinal muscular atrophy with respiratory distress type 1 (SMARD1). ( 18263757 )
2008
17
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. ( 18298318 )
2008
18
Consensus statement for standard of care in spinal muscular atrophy. ( 17761659 )
2007
19
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. ( 17236770 )
2007
20
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. ( 16339214 )
2006
21
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). ( 16025284 )
2005
22
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). ( 15248100 )
2004
23
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). ( 15269181 )
2004
24
'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'. ( 15287252 )
2004
25
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy. ( 15503272 )
2004
26
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. ( 15108294 )
2004
27
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. ( 15290238 )
2004
28
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). ( 14681881 )
2003
29
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. ( 14506069 )
2003

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

76 (show all 29)
# Symbol AA change Variation ID SNP ID
1 IGHMBP2 p.Leu192Pro VAR_022321
2 IGHMBP2 p.His213Arg VAR_022322 rs137852666
3 IGHMBP2 p.Thr221Ala VAR_022323
4 IGHMBP2 p.Cys241Arg VAR_022324
5 IGHMBP2 p.Glu334Lys VAR_022325
6 IGHMBP2 p.Leu361Pro VAR_022326 rs201060167
7 IGHMBP2 p.Leu364Pro VAR_022327
8 IGHMBP2 p.Glu382Lys VAR_022328 rs776730737
9 IGHMBP2 p.Leu426Pro VAR_022329
10 IGHMBP2 p.Glu514Lys VAR_022330 rs137852665
11 IGHMBP2 p.Asp565Asn VAR_022331 rs770111639
12 IGHMBP2 p.Leu577Pro VAR_022333 rs148316500
13 IGHMBP2 p.Val580Ile VAR_022334 rs137852667
14 IGHMBP2 p.Asn583Ile VAR_022335
15 IGHMBP2 p.Gly586Cys VAR_022336
16 IGHMBP2 p.Arg603His VAR_022337 rs151079750
17 IGHMBP2 p.Arg637Cys VAR_022338 rs201563456
18 IGHMBP2 p.Asp974Glu VAR_022340 rs147674615
19 IGHMBP2 p.Leu17Pro VAR_058497
20 IGHMBP2 p.Gln196Arg VAR_058498
21 IGHMBP2 p.Pro216Leu VAR_058499
22 IGHMBP2 p.Leu251Pro VAR_058500
23 IGHMBP2 p.Trp386Arg VAR_058501 rs759641927
24 IGHMBP2 p.His445Pro VAR_058502 rs571142182
25 IGHMBP2 p.Leu472Pro VAR_058503
26 IGHMBP2 p.Thr493Ile VAR_058504 rs780594709
27 IGHMBP2 p.Arg581Ser VAR_058505
28 IGHMBP2 p.Arg603Cys VAR_058506 rs146580326
29 IGHMBP2 p.Phe369Leu VAR_072695 rs137852670

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

6 (show top 50) (show all 419)
# 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.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh37 Chromosome 11, 68702872: 68702872
4 IGHMBP2 NM_002180.2(IGHMBP2): c.1738G> A (p.Val580Ile) single nucleotide variant Likely pathogenic rs137852667 GRCh38 Chromosome 11, 68935404: 68935404
5 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 GRCh38 Chromosome 11, 68937092: 68937092
6 IGHMBP2 NM_002180.2(IGHMBP2): c.2611+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs786205090 GRCh37 Chromosome 11, 68704560: 68704560
7 IGHMBP2 NM_002180.2(IGHMBP2): c.2456C> T (p.Pro819Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 68704404: 68704404
8 IGHMBP2 NM_002180.2(IGHMBP2): c.2456C> T (p.Pro819Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 68936936: 68936936
9 IGHMBP2 NM_002180.2(IGHMBP2): c.2456C> T (p.Pro819Leu) single nucleotide variant Uncertain significance NCBI36 Chromosome 11, 68460980: 68460980
10 IGHMBP2 NM_002180.2(IGHMBP2): c.256+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs118015540 GRCh38 Chromosome 11, 68906247: 68906247
11 IGHMBP2 NM_002180.2(IGHMBP2): c.256+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs118015540 GRCh37 Chromosome 11, 68673715: 68673715
12 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh38 Chromosome 11, 68906120: 68906120
13 IGHMBP2 NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter) single nucleotide variant Pathogenic rs372000714 GRCh37 Chromosome 11, 68673588: 68673588
14 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh38 Chromosome 11, 68939660: 68939661
15 IGHMBP2 NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs) deletion Conflicting interpretations of pathogenicity rs724159994 GRCh37 Chromosome 11, 68707128: 68707129
16 IGHMBP2 NM_002180.2(IGHMBP2): c.1546C> T (p.Arg516Cys) single nucleotide variant Uncertain significance rs757425203 GRCh37 Chromosome 11, 68701940: 68701940
17 IGHMBP2 NM_002180.2(IGHMBP2): c.1546C> T (p.Arg516Cys) single nucleotide variant Uncertain significance rs757425203 GRCh38 Chromosome 11, 68934472: 68934472
18 IGHMBP2 NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=) single nucleotide variant Benign/Likely benign rs624147 GRCh37 Chromosome 11, 68704387: 68704387
19 IGHMBP2 NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=) single nucleotide variant Benign/Likely benign rs624147 GRCh38 Chromosome 11, 68936919: 68936919
20 IGHMBP2 NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys) single nucleotide variant Benign rs17612126 GRCh37 Chromosome 11, 68705674: 68705674
21 IGHMBP2 NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys) single nucleotide variant Benign rs17612126 GRCh38 Chromosome 11, 68938206: 68938206
22 IGHMBP2 NM_002180.2(IGHMBP2): c.2618C> T (p.Pro873Leu) single nucleotide variant Uncertain significance rs141903179 GRCh37 Chromosome 11, 68705656: 68705656
23 IGHMBP2 NM_002180.2(IGHMBP2): c.2618C> T (p.Pro873Leu) single nucleotide variant Uncertain significance rs141903179 GRCh38 Chromosome 11, 68938188: 68938188
24 IGHMBP2 NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs147674615 GRCh37 Chromosome 11, 68707139: 68707139
25 IGHMBP2 NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs147674615 GRCh38 Chromosome 11, 68939671: 68939671
26 IGHMBP2 NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=) single nucleotide variant Conflicting interpretations of pathogenicity rs139926138 GRCh37 Chromosome 11, 68707010: 68707010
27 IGHMBP2 NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=) single nucleotide variant Conflicting interpretations of pathogenicity rs139926138 GRCh38 Chromosome 11, 68939542: 68939542
28 IGHMBP2 NM_002180.2(IGHMBP2): c.132C> T (p.Gly44=) single nucleotide variant Benign/Likely benign rs78807992 GRCh37 Chromosome 11, 68673582: 68673582
29 IGHMBP2 NM_002180.2(IGHMBP2): c.132C> T (p.Gly44=) single nucleotide variant Benign/Likely benign rs78807992 GRCh38 Chromosome 11, 68906114: 68906114
30 IGHMBP2 NM_002180.2(IGHMBP2): c.808C> T (p.Arg270Cys) single nucleotide variant Uncertain significance rs201054207 GRCh37 Chromosome 11, 68682387: 68682387
31 IGHMBP2 NM_002180.2(IGHMBP2): c.808C> T (p.Arg270Cys) single nucleotide variant Uncertain significance rs201054207 GRCh38 Chromosome 11, 68914919: 68914919
32 IGHMBP2 NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=) single nucleotide variant Conflicting interpretations of pathogenicity rs76707931 GRCh37 Chromosome 11, 68682320: 68682320
33 IGHMBP2 NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=) single nucleotide variant Conflicting interpretations of pathogenicity rs76707931 GRCh38 Chromosome 11, 68914852: 68914852
34 IGHMBP2 NM_002180.2(IGHMBP2): c.832C> G (p.His278Asp) single nucleotide variant Uncertain significance rs144681826 GRCh37 Chromosome 11, 68682411: 68682411
35 IGHMBP2 NM_002180.2(IGHMBP2): c.832C> G (p.His278Asp) single nucleotide variant Uncertain significance rs144681826 GRCh38 Chromosome 11, 68914943: 68914943
36 IGHMBP2 NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=) single nucleotide variant Conflicting interpretations of pathogenicity rs148157556 GRCh37 Chromosome 11, 68696694: 68696694
37 IGHMBP2 NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=) single nucleotide variant Conflicting interpretations of pathogenicity rs148157556 GRCh38 Chromosome 11, 68929226: 68929226
38 IGHMBP2 NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr) single nucleotide variant Uncertain significance rs756985703 GRCh38 Chromosome 11, 68934517: 68934517
39 IGHMBP2 NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr) single nucleotide variant Uncertain significance rs756985703 GRCh37 Chromosome 11, 68701985: 68701985
40 IGHMBP2 NM_002180.2(IGHMBP2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037759 GRCh38 Chromosome 11, 68903954: 68903954
41 IGHMBP2 NM_002180.2(IGHMBP2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037759 GRCh37 Chromosome 11, 68671422: 68671422
42 IGHMBP2 NM_002180.2(IGHMBP2): c.983_987delAAGAA (p.Lys328Thrfs) deletion Likely pathogenic rs746581714 GRCh38 Chromosome 11, 68917806: 68917810
43 IGHMBP2 NM_002180.2(IGHMBP2): c.983_987delAAGAA (p.Lys328Thrfs) deletion Likely pathogenic rs746581714 GRCh37 Chromosome 11, 68685274: 68685278
44 IGHMBP2 NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile) single nucleotide variant Pathogenic/Likely pathogenic rs780594709 GRCh38 Chromosome 11, 68933854: 68933854
45 IGHMBP2 NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile) single nucleotide variant Pathogenic/Likely pathogenic rs780594709 GRCh37 Chromosome 11, 68701322: 68701322
46 IGHMBP2 NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly) single nucleotide variant Uncertain significance rs148095551 GRCh38 Chromosome 11, 68914878: 68914878
47 IGHMBP2 NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly) single nucleotide variant Uncertain significance rs148095551 GRCh37 Chromosome 11, 68682346: 68682346
48 IGHMBP2 NM_002180.2(IGHMBP2): c.1148C> T (p.Ala383Val) single nucleotide variant Uncertain significance rs876661217 GRCh37 Chromosome 11, 68696738: 68696738
49 IGHMBP2 NM_002180.2(IGHMBP2): c.1148C> T (p.Ala383Val) single nucleotide variant Uncertain significance rs876661217 GRCh38 Chromosome 11, 68929270: 68929270
50 IGHMBP2 NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35193202 GRCh37 Chromosome 11, 68696783: 68696783

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Pathways related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.02 SMN1 SMN2 UPF1

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Cellular components related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex GO:1990904 9.43 GTF3C1 IGHMBP2
2 Z disc GO:0030018 9.4 SMN1 SMN2
3 perikaryon GO:0043204 9.37 SMN1 SMN2
4 Cajal body GO:0015030 9.32 SMN1 SMN2
5 cytoplasmic ribonucleoprotein granule GO:0036464 9.26 SMN1 SMN2
6 SMN-Sm protein complex GO:0034719 9.16 SMN1 SMN2
7 Gemini of coiled bodies GO:0097504 8.96 SMN1 SMN2
8 SMN complex GO:0032797 8.62 SMN1 SMN2

Biological processes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.32 IGHMBP2 UPF1
2 spliceosomal snRNP assembly GO:0000387 9.26 SMN1 SMN2
3 spliceosomal complex assembly GO:0000245 9.16 SMN1 SMN2
4 import into nucleus GO:0051170 8.96 SMN1 SMN2
5 DNA-templated transcription, termination GO:0006353 8.62 SMN1 SMN2

Molecular functions related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 8.96 IGHMBP2 UPF1
2 RNA binding GO:0003723 8.92 IGHMBP2 SMN1 SMN2 UPF1

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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