MCID: SPN408
MIFTS: 39

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

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

Orphanet: 59  
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.

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

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

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

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 Frequency 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

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 29 IGHMBP2

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
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:

# 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 )
2008

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

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

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 for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

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