DSMA1
MCID: SPN408
MIFTS: 49

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 56 52 29 6 37
Smard1 56 12 52 25 58 73 54
Sianrf 56 12 52 25 58 73
Dsma1 56 12 52 25 58 73
Dhmn6 56 12 25 58 73
Severe Infantile Axonal Neuropathy with Respiratory Failure 56 52 25 73
Spinal Muscular Atrophy with Respiratory Distress Type 1 12 74 25 58
Spinal Muscular Atrophy with Respiratory Distress 1 56 52 73 71
Diaphragmatic Spinal Muscular Atrophy 12 25 58 73
Hmn6 56 52 25 73
Autosomal Recessive Distal Spinal Muscular Atrophy 1 12 25 15
Neuronopathy, Distal Hereditary Motor, Type Vi 56 52 13
Hmn Vi 56 52 73
Autosomal Recessive Spinal Muscular Atrophy with Respiratory Distress 12 58
Severe Infantile Axonal Neuropathy with Respiratory Failure Type 1 12 58
Neuronopathy, Severe Infantile Axonal, with Respiratory Failure 56 52
Distal Hereditary Motor Neuropathy Type 6 12 58
Distal-Hmn Type 6 12 58
Severe Infantile Axonal Neuropathy with Respiratory Failure; Sianrf 56
Severe Infantile Axonal Neuronopathy with Respiratory Failure 73
Spinal Muscular Atrophy with Respiratory Distress 1; Smard1 56
Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 58
Neuronopathy, Distal Hereditary Motor, Type Vi; Dhmn6 56
Spinal Muscular Atrophy Distal Autosomal Recessive 1 73
Spinal Muscular Atrophy with Respiratory Distress 25
Distal Hereditary Motor Neuronopathy Type Vi 25
Distal Hereditary Motor Neuropathy Type Vi 73
Atrophy, Muscular, Spinal, Distal, Type 1 39
Neuronopathy, Distal Hereditary Motor, 6 73
Spinal Muscular Atrophy, Diaphragmatic 56
Distal Spinal Muscular Atrophy Type 1 25
Distal Spinal Muscular Atrophy 1 12
Dhmn Vi 73
Hmnvi 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
spinal muscular atrophy, distal, autosomal recessive, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


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

Genetics Home Reference : 25 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. Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. These are the muscles farther from the center of the body, such as muscles in the hands and feet. The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia).

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1, also known as smard1, is related to charcot-marie-tooth hereditary neuropathy and 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 related phenotypes are failure to thrive and hyperhidrosis

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 : 73 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 : 74 Distal spinal muscular atrophy type 1 (DSMA1), is a rare neuromuscular disorder involving death of motor... more...

More information 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 31.0 SETX MORC2 IGHMBP2
2 muscular atrophy 30.5 SMN2 SMN1 SETX MORC2 IGHMBP2
3 diaphragmatic eventration 30.5 LAS1L IGHMBP2
4 distal hereditary motor neuropathies 30.5 SETX MORC2 IGHMBP2
5 spinal muscular atrophy, type i 30.5 SMN2 SMN1 LAS1L IGHMBP2
6 proximal spinal muscular atrophy 30.5 SMN2 SMN1 SETX
7 anterior horn cell disease 30.5 SMN2 SMN1 IGHMBP2
8 spinal muscular atrophy 30.2 UPF1 SMN2 SMN1 SETX MORC2 IGHMBP2
9 motor neuron disease 30.2 SMN2 SMN1 SLC52A2 SETX
10 spinal muscular atrophy with respiratory distress type 2 11.7
11 neuromuscular disease 10.4
12 neonatal myasthenia gravis 10.4 LAS1L IGHMBP2
13 spinal muscular atrophy, type ii 10.4 SMN2 SMN1
14 hypertonia 10.4
15 hypotonia 10.3
16 culler-jones syndrome 10.3 SMN2 SMN1
17 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 SMN2 SMN1
18 autosomal recessive disease 10.3
19 respiratory failure 10.3
20 amelogenesis imperfecta, type ia 10.3 SMN2 SMN1
21 mitochondrial dna depletion syndrome 2 10.3 MORC2 LAS1L
22 mitochondrial dna depletion syndrome 3 10.3 MORC2 LAS1L
23 survival motor neuron spinal muscular atrophy 10.2 SMN2 SMN1 IGHMBP2
24 spinal muscular atrophy, type iv 10.2 SMN2 SMN1
25 spinal muscular atrophy, type iii 10.2 SMN2 SMN1 IGHMBP2
26 hydrocephalus 10.2
27 sensory peripheral neuropathy 10.2
28 tracheobronchomalacia 10.2
29 dysautonomia 10.2
30 genetic motor neuron disease 10.2
31 progressive muscular atrophy 10.2 SMN2 SMN1
32 myopathy 10.2
33 juvenile amyotrophic lateral sclerosis 10.2 UPF1 SETX IGHMBP2
34 neuropathy 10.2
35 spinal disease 10.1 SMN2 SMN1
36 axonal neuropathy 10.1
37 infantile axonal neuropathy 10.1
38 severe infantile axonal neuropathy 10.1
39 microcephaly 10.1
40 polyneuropathy 10.1
41 hypothyroidism 10.1
42 congenital contractures 10.1
43 cerebral atrophy 10.1
44 amyotrophic lateral sclerosis 4, juvenile 10.1 SETX IGHMBP2
45 cardiac arrhythmia 10.0
46 myopathy, congenital 10.0
47 sudden infant death syndrome 10.0
48 spinal muscular atrophy, x-linked 2 10.0
49 lissencephaly 1 10.0
50 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.0

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:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hyperhidrosis 31 HP:0000975
3 constipation 31 HP:0002019
4 intrauterine growth retardation 31 HP:0001511
5 spinal muscular atrophy 31 HP:0007269
6 decreased nerve conduction velocity 31 HP:0000762
7 talipes equinovarus 31 HP:0001762
8 respiratory failure 31 HP:0002878
9 hyporeflexia 31 HP:0001265
10 decreased fetal movement 31 HP:0001558
11 weak cry 31 HP:0001612
12 camptodactyly of finger 31 HP:0100490
13 premature birth 31 HP:0001622
14 distal amyotrophy 31 HP:0003693
15 limb muscle weakness 31 HP:0003690
16 urinary incontinence 31 HP:0000020
17 diaphragmatic paralysis 31 HP:0006597
18 distal muscle weakness 31 HP:0002460
19 tachypnea 31 HP:0002789
20 small for gestational age 31 HP:0001518
21 emg: neuropathic changes 31 HP:0003445
22 ventilator dependence with inability to wean 31 HP:0005946
23 degeneration of anterior horn cells 31 HP:0002398
24 axonal degeneration 31 HP:0040078
25 diaphragmatic eventration 31 HP:0009110
26 inspiratory stridor 31 HP:0005348
27 peripheral axonal degeneration 31 HP:0000764
28 denervation of the diaphragm 31 HP:0009109

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Respiratory:
respiratory failure
tachypnea
ventilar dependence with inability to wean

Respiratory Airways:
weak cry
inspiratory stridor

Prenatal Manifestations Delivery:
premature delivery

Skeletal Feet:
foot deformities
pes equinus

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

Chest Diaphragm:
diaphragmatic paralysis
diaphragmatic weakness
denervation of the diaphragm
eventration of the right or both hemidiaphragms
thin diaphragm
more
Skeletal Hands:
finger contractures

Growth Weight:
low birth weight

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

Search Clinical Trials , 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 29 IGHMBP2

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

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

40
Spinal Cord, Lung, Testes, Bone, 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 top 50) (show all 81)
# Title Authors PMID Year
1
Interfamilial phenotypic heterogeneity in SMARD1. 54 61 56
19157874 2009
2
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 54 61 56
17431882 2007
3
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. 54 61 56
15290238 2004
4
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61 56
14681881 2003
5
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. 61 56
14506069 2003
6
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. 61 56
11528396 2001
7
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). 56
19158098 2009
8
Consensus statement for standard of care in spinal muscular atrophy. 6
17761659 2007
9
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21. 56
10521314 1999
10
Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. 56
9883726 1998
11
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. 56
8677029 1996
12
The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13. 56
8530062 1995
13
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13. 56
7783173 1995
14
A new mouse mutant with progressive motor neuronopathy. 56
2022963 1991
15
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. 56
2801766 1989
16
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. 56
4809192 1974
17
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. 54 61
19299493 2009
18
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. 54 61
18298318 2008
19
Spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61
18263757 2008
20
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. 54 61
17236770 2007
21
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. 54 61
16964485 2006
22
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). 54 61
15269181 2004
23
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61
15248100 2004
24
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. 54 61
15108294 2004
25
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights. 61
31802621 2020
26
Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd. 61
31604525 2019
27
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1. 61
31445043 2019
28
Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1. 61
31256932 2019
29
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1. 61
30863264 2019
30
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study. 61
30598237 2019
31
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case. 61
30409445 2018
32
IGHMBP2 mutation associated with organ-specific autonomic dysfunction. 61
30385095 2018
33
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1). 61
29653221 2018
34
Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency. 61
31073488 2018
35
A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1. 61
30202772 2018
36
Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). 61
29928949 2018
37
Selective vulnerability in neuronal populations in nmd/SMARD1 mice. 61
29272405 2018
38
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. 61
28899595 2018
39
Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation. 61
29761130 2018
40
Clinical diversity caused by novel IGHMBP2 variants. 61
28202949 2017
41
[Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1]. 61
28397221 2017
42
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. 61
27450922 2016
43
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature. 61
26922252 2016
44
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature. 61
27570397 2016
45
Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent. 61
26860981 2016
46
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up. 61
26709713 2016
47
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. 61
27066569 2015
48
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. 61
26298607 2015
49
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1. 61
26095024 2015
50
Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia. 61
25280635 2015

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

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

6 (show top 50) (show all 213) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
2 IGHMBP2 NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)SNV Pathogenic 234316 rs145226920 11:68701332-68701332 11:68933864-68933864
3 IGHMBP2 NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)SNV Pathogenic 9112 rs137852665 11:68701934-68701934 11:68934466-68934466
4 IGHMBP2 NM_002180.2(IGHMBP2):c.1346del (p.Met449fs)deletion Pathogenic 243079 rs879253865 11:68700877-68700877 11:68933409-68933409
5 IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)SNV Pathogenic 245627 rs201060167 11:68696672-68696672 11:68929204-68929204
6 IGHMBP2 NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs)duplication Pathogenic 466583 rs1555247732 11:68702812-68702813 11:68935344-68935345
7 IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293
8 IGHMBP2 NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter)SNV Pathogenic 488695 rs773242930 11:68704316-68704316 11:68936848-68936848
9 IGHMBP2 NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter)SNV Pathogenic 521206 rs1324667543 11:68675795-68675795 11:68908327-68908327
10 IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>ASNV Pathogenic 534927 rs797044802 11:68675806-68675806 11:68908338-68908338
11 IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)SNV Pathogenic 561032 rs1000091588 11:68702842-68702842 11:68935374-68935374
12 IGHMBP2 NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter)SNV Pathogenic 571351 rs1566430156 11:68682405-68682405 11:68914937-68914937
13 IGHMBP2 NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)SNV Pathogenic 574350 rs556292818 11:68701360-68701360 11:68933892-68933892
14 IGHMBP2 NM_002180.3(IGHMBP2):c.133del (p.Val45fs)deletion Pathogenic 640505 11:68673583-68673583 11:68906115-68906115
15 IGHMBP2 NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter)SNV Pathogenic 566209 rs1373247548 11:68704523-68704523 11:68937055-68937055
16 IGHMBP2 NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)deletion Pathogenic 637908 11:68704302-68704302 11:68936834-68936834
17 IGHMBP2 NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter)SNV Pathogenic/Likely pathogenic 620136 rs372181708 11:68700867-68700867 11:68933399-68933399
18 IGHMBP2 NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)SNV Pathogenic/Likely pathogenic 573815 rs759641927 11:68696746-68696746 11:68929278-68929278
19 IGHMBP2 NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs)duplication Pathogenic/Likely pathogenic 582766 rs1566443170 11:68700843-68700844 11:68933375-68933376
20 IGHMBP2 NM_002180.2(IGHMBP2):c.2611+1G>TSNV Pathogenic/Likely pathogenic 9118 rs786205090 11:68704560-68704560 11:68937092-68937092
21 IGHMBP2 NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 217448 rs886037759 11:68671422-68671422 11:68903954-68903954
22 IGHMBP2 NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)short repeat Pathogenic/Likely pathogenic 217449 rs746581714 11:68685269-68685273 11:68917801-68917805
23 IGHMBP2 NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)SNV Pathogenic/Likely pathogenic 217450 rs780594709 11:68701322-68701322 11:68933854-68933854
24 IGHMBP2 NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)short repeat Pathogenic/Likely pathogenic 162195 rs724159994 11:68707126-68707127 11:68939658-68939659
25 IGHMBP2 NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)SNV Likely pathogenic 9114 rs137852667 11:68702872-68702872 11:68935404-68935404
26 IGHMBP2 NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu)SNV Likely pathogenic 243080 rs35193202 11:68696783-68696783 11:68929315-68929315
27 IGHMBP2 NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)SNV Likely pathogenic 466598 rs777575504 11:68682370-68682370 11:68914902-68914902
28 IGHMBP2 NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)SNV Likely pathogenic 287977 rs886043773 11:68685351-68685351 11:68917883-68917883
29 IGHMBP2 NM_002180.2(IGHMBP2):c.547+1G>ASNV Likely pathogenic 373749 rs1057518588 11:68676100-68676100 11:68908632-68908632
30 IGHMBP2 NM_002180.2(IGHMBP2):c.1633-2A>GSNV Likely pathogenic 573404 rs1566445029 11:68702765-68702765 11:68935297-68935297
31 IGHMBP2 NM_002180.2(IGHMBP2):c.257-2A>GSNV Likely pathogenic 580622 rs1566424655 11:68675611-68675611 11:68908143-68908143
32 IGHMBP2 NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter)SNV Likely pathogenic 522258 rs557416644 11:68682483-68682483 11:68915015-68915015
33 IGHMBP2 NM_002180.2(IGHMBP2):c.1418+1G>CSNV Likely pathogenic 523647 rs1160978570 11:68700950-68700950 11:68933482-68933482
34 IGHMBP2 NM_002180.2(IGHMBP2):c.688C>G (p.Gln230Glu)SNV Likely pathogenic 487481 rs1555243325 11:68679048-68679048 11:68911580-68911580
35 IGHMBP2 NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)SNV Likely pathogenic 617575 rs751549678 11:68700858-68700858 11:68933390-68933390
36 IGHMBP2 NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)deletion Likely pathogenic 666974 11:68682304-68682304 11:68914836-68914836
37 IGHMBP2 NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)SNV Conflicting interpretations of pathogenicity 637695 11:68700804-68700804 11:68933336-68933336
38 IGHMBP2 NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)SNV Conflicting interpretations of pathogenicity 637262 11:68704310-68704310 11:68936842-68936842
39 IGHMBP2 NM_002180.2(IGHMBP2):c.1756+4C>TSNV Conflicting interpretations of pathogenicity 466584 rs778913429 11:68702894-68702894 11:68935426-68935426
40 IGHMBP2 NM_002180.2(IGHMBP2):c.1632+4C>TSNV Conflicting interpretations of pathogenicity 509916 rs775832239 11:68702030-68702030 11:68934562-68934562
41 IGHMBP2 NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg)SNV Conflicting interpretations of pathogenicity 374170 rs1057518943 11:68673631-68673631 11:68906163-68906163
42 IGHMBP2 NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)SNV Conflicting interpretations of pathogenicity 258557 rs117061430 11:68673601-68673601 11:68906133-68906133
43 IGHMBP2 NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)SNV Conflicting interpretations of pathogenicity 246570 rs149824485 11:68707054-68707054 11:68939586-68939586
44 IGHMBP2 NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)SNV Conflicting interpretations of pathogenicity 305856 rs2228207 11:68704480-68704480 11:68937012-68937012
45 IGHMBP2 NM_002180.2(IGHMBP2):c.256+9G>ASNV Conflicting interpretations of pathogenicity 137568 rs118015540 11:68673715-68673715 11:68906247-68906247
46 IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)SNV Conflicting interpretations of pathogenicity 235774 rs151079750 11:68703756-68703756 11:68936288-68936288
47 IGHMBP2 NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu)SNV Conflicting interpretations of pathogenicity 245629 rs879253887 11:68702010-68702010 11:68934542-68934542
48 IGHMBP2 NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu)SNV Conflicting interpretations of pathogenicity 194494 rs147674615 11:68707139-68707139 11:68939671-68939671
49 IGHMBP2 NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys)SNV Uncertain significance 198144 rs201054207 11:68682387-68682387 11:68914919-68914919
50 IGHMBP2 NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp)SNV Uncertain significance 198146 rs144681826 11:68682411-68682411 11:68914943-68914943

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

73 (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

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 UPF1 SMN2 SMN1

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 axon GO:0030424 9.56 SMN2 SMN1 SETX IGHMBP2
2 SMN-Sm protein complex GO:0034719 9.16 SMN2 SMN1
3 Gemini of coiled bodies GO:0097504 8.96 SMN2 SMN1
4 SMN complex GO:0032797 8.62 SMN2 SMN1

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 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
2 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
3 import into nucleus GO:0051170 8.96 SMN2 SMN1
4 DNA-templated transcription, termination GO:0006353 8.8 SMN2 SMN1 SETX

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 ATP binding GO:0005524 9.8 UPF1 SPATA5L1 SETX MORC2 IGHMBP2 DDX27
2 RNA binding GO:0003723 9.56 UPF1 SMN2 SMN1 SETX LAS1L IGHMBP2
3 RNA helicase activity GO:0003724 9.33 UPF1 IGHMBP2 DDX27
4 helicase activity GO:0004386 8.92 UPF1 SETX IGHMBP2 DDX27

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

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
Content
Loading form....