Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN408 MIFTS: 39	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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 ⁵⁷ ⁵³ ²⁹ ⁶ ³⁸

Smard1 ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵ ⁵⁵

Sianrf ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Dsma1 ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Spinal Muscular Atrophy with Respiratory Distress 1 ⁵⁷ ³⁸ ⁵³ ⁷⁵ ⁷³

Dhmn6 ⁵⁷ ¹² ²⁵ ⁵⁹ ⁷⁵

Severe Infantile Axonal Neuropathy with Respiratory Failure ⁵⁷ ⁵³ ²⁵ ⁷⁵

Spinal Muscular Atrophy with Respiratory Distress Type 1 ¹² ⁷⁶ ²⁵ ⁵⁹

Diaphragmatic Spinal Muscular Atrophy ¹² ²⁵ ⁵⁹ ⁷⁵

Hmn6 ⁵⁷ ⁵³ ²⁵ ⁷⁵

Neuronopathy, Distal Hereditary Motor, Type Vi ⁵⁷ ⁵³ ¹³

Hmn Vi ⁵⁷ ⁵³ ⁷⁵

Autosomal Recessive Spinal Muscular Atrophy with Respiratory Distress ¹² ⁵⁹

Severe Infantile Axonal Neuropathy with Respiratory Failure Type 1 ¹² ⁵⁹

Neuronopathy, Severe Infantile Axonal, with Respiratory Failure ⁵⁷ ⁵³

Autosomal Recessive Distal Spinal Muscular Atrophy 1 ¹² ²⁵

Distal Hereditary Motor Neuropathy Type 6 ¹² ⁵⁹

Distal-Hmn Type 6 ¹² ⁵⁹

Severe Infantile Axonal Neuropathy with Respiratory Failure; Sianrf ⁵⁷

Severe Infantile Axonal Neuronopathy with Respiratory Failure ⁷⁵

Spinal Muscular Atrophy with Respiratory Distress 1; Smard1 ⁵⁷

Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 ⁵⁹

Neuronopathy, Distal Hereditary Motor, Type Vi; Dhmn6 ⁵⁷

Spinal Muscular Atrophy Distal Autosomal Recessive 1 ⁷⁵

Spinal Muscular Atrophy with Respiratory Distress ²⁵

Distal Hereditary Motor Neuronopathy Type Vi ²⁵

Distal Hereditary Motor Neuropathy Type Vi ⁷⁵

Atrophy, Muscular, Spinal, Distal, Type 1 ⁴⁰

Neuronopathy, Distal Hereditary Motor, 6 ⁷⁵

Spinal Muscular Atrophy, Diaphragmatic ⁵⁷

Distal Spinal Muscular Atrophy Type 1 ²⁵

Dhmn Vi ⁷⁵

Hmnvi ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Motor neuron disease

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 604320

Disease Ontology ¹² DOID:0111064

ICD10 ³³ G12.2

Orphanet ⁵⁹ ORPHA98920

ICD10 via Orphanet ³⁴ G12.2

UMLS via Orphanet ⁷⁴ C1858517

MedGen ⁴² C1858517

MeSH ⁴⁴ D009134

SNOMED-CT via HPO ⁶⁹ 258211005 165232002 161857006 more

UMLS ⁷³ C1858517

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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.

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1, also known as smard1, is related to spinal muscular atrophy with respiratory distress type 2 and respiratory failure, and has symptoms including constipation and inspiratory stridor. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 is IGHMBP2 (Immunoglobulin Mu Binding Protein 2). 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 : ⁷⁵ 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 : ⁷⁶ Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory... more...

Description from OMIM: 604320

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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:

#	Related Disease	Score
1	spinal muscular atrophy with respiratory distress type 2	11.4
2	respiratory failure	10.0
3	axonal neuropathy	10.0
4	neuropathy	10.0
5	infantile axonal neuropathy	10.0
6	severe infantile axonal neuropathy	10.0
7	spinal muscular atrophy	9.9
8	muscular atrophy	9.9
9	distal hereditary motor neuropathies	9.9

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

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

Chest Diaphragm:
diaphragmatic paralysis
diaphragmatic weakness
eventration of the right or both hemidiaphragms
thin diaphragm
membranous diaphragm
more

Skeletal Feet:
foot deformities
pes equinus

Skeletal Hands:
finger contractures

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

Clinical features from OMIM:

604320

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

³² (show all 27)

#	Description	HPO Source Accession
1	hyperhidrosis ³²	HP:0000975
2	failure to thrive ³²	HP:0001508
3	constipation ³²	HP:0002019
4	decreased nerve conduction velocity ³²	HP:0000762
5	intrauterine growth retardation ³²	HP:0001511
6	respiratory failure ³²	HP:0002878
7	talipes equinovarus ³²	HP:0001762
8	hyporeflexia ³²	HP:0001265
9	decreased fetal movement ³²	HP:0001558
10	camptodactyly of finger ³²	HP:0100490
11	weak cry ³²	HP:0001612
12	premature birth ³²	HP:0001622
13	urinary incontinence ³²	HP:0000020
14	diaphragmatic paralysis ³²	HP:0006597
15	distal muscle weakness ³²	HP:0002460
16	tachypnea ³²	HP:0002789
17	limb muscle weakness ³²	HP:0003690
18	distal amyotrophy ³²	HP:0003693
19	small for gestational age ³²	HP:0001518
20	degeneration of anterior horn cells ³²	HP:0002398
21	inspiratory stridor ³²	HP:0005348
22	diaphragmatic eventration ³²	HP:0009110
23	spinal muscular atrophy ³²	HP:0007269
24	denervation of the diaphragm ³²	HP:0009109
25	emg ³²	HP:0003445
26	peripheral axonal degeneration ³²	HP:0000764
27	ventilator dependence with inability to wean ³²	HP:0005946

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

constipation, inspiratory stridor

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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:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 cell therapies at LifeMap Discovery.

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

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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

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

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

⁴¹

Spinal Cord, Lung

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

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

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

#	Title	Authors	Year
1	Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. ( 18298318 )	Basel-Vanagaite L....Shohat M.	2008

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

Genes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IGHMBP2	Immunoglobulin Mu Binding Protein 2	Protein Coding	1707.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	17761659 20301462 19157874 (more) 15290238 17236770 15108294 15269181 14681881 18263757 17431882 19299493 18298318 16964485 15248100
2	MRPL21	Mitochondrial Ribosomal Protein L21	Protein Coding	8.79	GeneCards inferred via : Variants (show sections)

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

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

⁷⁵ (show all 30)

#	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
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.Thr879Lys	VAR_022339	rs17612126
19	IGHMBP2	p.Asp974Glu	VAR_022340	rs147674615
20	IGHMBP2	p.Leu17Pro	VAR_058497
21	IGHMBP2	p.Gln196Arg	VAR_058498
22	IGHMBP2	p.Pro216Leu	VAR_058499
23	IGHMBP2	p.Leu251Pro	VAR_058500
24	IGHMBP2	p.Trp386Arg	VAR_058501	rs759641927
25	IGHMBP2	p.His445Pro	VAR_058502	rs571142182
26	IGHMBP2	p.Leu472Pro	VAR_058503
27	IGHMBP2	p.Thr493Ile	VAR_058504	rs780594709
28	IGHMBP2	p.Arg581Ser	VAR_058505
29	IGHMBP2	p.Arg603Cys	VAR_058506
30	IGHMBP2	p.Phe369Leu	VAR_072695	rs137852670

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

⁶

(show top 50) (show all 316)

#	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.138T> A (p.Cys46Ter)	single nucleotide variant	Pathogenic	rs372000714	GRCh38	Chromosome 11, 68906120: 68906120
8	IGHMBP2	NM_002180.2(IGHMBP2): c.138T> A (p.Cys46Ter)	single nucleotide variant	Pathogenic	rs372000714	GRCh37	Chromosome 11, 68673588: 68673588
9	IGHMBP2	NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)	deletion	Pathogenic/Likely pathogenic	rs724159994	GRCh38	Chromosome 11, 68939660: 68939661
10	IGHMBP2	NM_002180.2(IGHMBP2): c.2911_2912delAG (p.Arg971Glufs)	deletion	Pathogenic/Likely pathogenic	rs724159994	GRCh37	Chromosome 11, 68707128: 68707129
11	IGHMBP2	NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=)	single nucleotide variant	Benign/Likely benign	rs624147	GRCh37	Chromosome 11, 68704387: 68704387
12	IGHMBP2	NM_002180.2(IGHMBP2): c.2439G> A (p.Ala813=)	single nucleotide variant	Benign/Likely benign	rs624147	GRCh38	Chromosome 11, 68936919: 68936919
13	IGHMBP2	NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys)	single nucleotide variant	Benign	rs17612126	GRCh37	Chromosome 11, 68705674: 68705674
14	IGHMBP2	NM_002180.2(IGHMBP2): c.2636C> A (p.Thr879Lys)	single nucleotide variant	Benign	rs17612126	GRCh38	Chromosome 11, 68938206: 68938206
15	IGHMBP2	NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147674615	GRCh37	Chromosome 11, 68707139: 68707139
16	IGHMBP2	NM_002180.2(IGHMBP2): c.2922T> G (p.Asp974Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147674615	GRCh38	Chromosome 11, 68939671: 68939671
17	IGHMBP2	NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139926138	GRCh37	Chromosome 11, 68707010: 68707010
18	IGHMBP2	NM_002180.2(IGHMBP2): c.2793C> T (p.Gly931=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139926138	GRCh38	Chromosome 11, 68939542: 68939542
19	IGHMBP2	NM_002180.2(IGHMBP2): c.132C> T (p.Gly44=)	single nucleotide variant	Benign/Likely benign	rs78807992	GRCh37	Chromosome 11, 68673582: 68673582
20	IGHMBP2	NM_002180.2(IGHMBP2): c.132C> T (p.Gly44=)	single nucleotide variant	Benign/Likely benign	rs78807992	GRCh38	Chromosome 11, 68906114: 68906114
21	IGHMBP2	NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs76707931	GRCh37	Chromosome 11, 68682320: 68682320
22	IGHMBP2	NM_002180.2(IGHMBP2): c.741C> T (p.Ala247=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs76707931	GRCh38	Chromosome 11, 68914852: 68914852
23	IGHMBP2	NM_002180.2(IGHMBP2): c.832C> G (p.His278Asp)	single nucleotide variant	Uncertain significance	rs144681826	GRCh37	Chromosome 11, 68682411: 68682411
24	IGHMBP2	NM_002180.2(IGHMBP2): c.832C> G (p.His278Asp)	single nucleotide variant	Uncertain significance	rs144681826	GRCh38	Chromosome 11, 68914943: 68914943
25	IGHMBP2	NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148157556	GRCh37	Chromosome 11, 68696694: 68696694
26	IGHMBP2	NM_002180.2(IGHMBP2): c.1104C> T (p.Tyr368=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148157556	GRCh38	Chromosome 11, 68929226: 68929226
27	IGHMBP2	NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr)	single nucleotide variant	Uncertain significance	rs756985703	GRCh38	Chromosome 11, 68934517: 68934517
28	IGHMBP2	NM_002180.2(IGHMBP2): c.1591C> A (p.Pro531Thr)	single nucleotide variant	Uncertain significance	rs756985703	GRCh37	Chromosome 11, 68701985: 68701985
29	IGHMBP2	NM_002180.2(IGHMBP2): c.92G> A (p.Trp31Ter)	single nucleotide variant	Pathogenic	rs863224880	GRCh37	Chromosome 11, 68673542: 68673542
30	IGHMBP2	NM_002180.2(IGHMBP2): c.92G> A (p.Trp31Ter)	single nucleotide variant	Pathogenic	rs863224880	GRCh38	Chromosome 11, 68906074: 68906074
31	IGHMBP2	NM_002180.2(IGHMBP2): c.660A> C (p.Lys220Asn)	single nucleotide variant	no interpretation for the single variant	rs863224881	GRCh37	Chromosome 11, 68679020: 68679020
32	IGHMBP2	NM_002180.2(IGHMBP2): c.660A> C (p.Lys220Asn)	single nucleotide variant	no interpretation for the single variant	rs863224881	GRCh38	Chromosome 11, 68911552: 68911552
33	IGHMBP2	NM_002180.2(IGHMBP2): c.2T> C (p.Met1Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886037759	GRCh38	Chromosome 11, 68903954: 68903954
34	IGHMBP2	NM_002180.2(IGHMBP2): c.2T> C (p.Met1Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs886037759	GRCh37	Chromosome 11, 68671422: 68671422
35	IGHMBP2	NM_002180.2(IGHMBP2): c.983_987delAAGAA (p.Lys328Thrfs)	deletion	Likely pathogenic	rs886037760	GRCh38	Chromosome 11, 68917806: 68917810
36	IGHMBP2	NM_002180.2(IGHMBP2): c.983_987delAAGAA (p.Lys328Thrfs)	deletion	Likely pathogenic	rs886037760	GRCh37	Chromosome 11, 68685274: 68685278
37	IGHMBP2	NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs780594709	GRCh38	Chromosome 11, 68933854: 68933854
38	IGHMBP2	NM_002180.2(IGHMBP2): c.1478C> T (p.Thr493Ile)	single nucleotide variant	Pathogenic/Likely pathogenic	rs780594709	GRCh37	Chromosome 11, 68701322: 68701322
39	IGHMBP2	NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly)	single nucleotide variant	Uncertain significance	rs148095551	GRCh38	Chromosome 11, 68914878: 68914878
40	IGHMBP2	NM_002180.2(IGHMBP2): c.767C> G (p.Ala256Gly)	single nucleotide variant	Uncertain significance	rs148095551	GRCh37	Chromosome 11, 68682346: 68682346
41	IGHMBP2	NM_002180.2(IGHMBP2): c.127C> T (p.Arg43Ter)	single nucleotide variant	Pathogenic	rs200089714	GRCh38	Chromosome 11, 68906109: 68906109
42	IGHMBP2	NM_002180.2(IGHMBP2): c.127C> T (p.Arg43Ter)	single nucleotide variant	Pathogenic	rs200089714	GRCh37	Chromosome 11, 68673577: 68673577
43	IGHMBP2	NM_002180.2(IGHMBP2): c.1148C> T (p.Ala383Val)	single nucleotide variant	Uncertain significance	rs876661217	GRCh37	Chromosome 11, 68696738: 68696738
44	IGHMBP2	NM_002180.2(IGHMBP2): c.1148C> T (p.Ala383Val)	single nucleotide variant	Uncertain significance	rs876661217	GRCh38	Chromosome 11, 68929270: 68929270
45	IGHMBP2	NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35193202	GRCh37	Chromosome 11, 68696783: 68696783
46	IGHMBP2	NM_002180.2(IGHMBP2): c.1193C> T (p.Ala398Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35193202	GRCh38	Chromosome 11, 68929315: 68929315
47	IGHMBP2	NM_002180.2(IGHMBP2): c.1488C> A (p.Cys496Ter)	single nucleotide variant	Pathogenic	rs145226920	GRCh38	Chromosome 11, 68933864: 68933864
48	IGHMBP2	NM_002180.2(IGHMBP2): c.1488C> A (p.Cys496Ter)	single nucleotide variant	Pathogenic	rs145226920	GRCh37	Chromosome 11, 68701332: 68701332
49	IGHMBP2	NM_002180.2(IGHMBP2): c.2872A> G (p.Asn958Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141873613	GRCh37	Chromosome 11, 68707089: 68707089
50	IGHMBP2	NM_002180.2(IGHMBP2): c.2872A> G (p.Asn958Asp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141873613	GRCh38	Chromosome 11, 68939621: 68939621

Sources

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

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

Sources

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

Sources

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

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	translation	GO:0006412	8.62	IGHMBP2 MRPL21

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	RNA binding	GO:0003723	8.62	IGHMBP2 MRPL21

Sources

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

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⁷⁶ Wikipedia