MCID: MYP093
MIFTS: 27

Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

MalaCards integrated aliases for Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

Name: Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 57 53 29 13 6 40 73
Emardd 57 53 59 75
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant 57 29 6
Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome 59
Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia 75
Early-Onset Myopathy, Areflexia, Respiratory Distress and Dysphagia 53

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
patients present at birth with respiratory distress or poor head control
death may occur in childhood due to respiratory failure
some patients may not achieve walking


HPO:

32
myopathy, areflexia, respiratory distress, and dysphagia, early-onset:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

UniProtKB/Swiss-Prot : 75 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia: An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases.

MalaCards based summary : Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, also known as emardd, is related to myopathy and dysphagia, and has symptoms including torticollis and facial paresis. An important gene associated with Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset is MEGF10 (Multiple EGF Like Domains 10). Affiliated tissues include lung, and related phenotypes are cleft palate and high palate

OMIM : 57 EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012). (614399)

Related Diseases for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

Diseases related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy 10.1
2 dysphagia 10.1

Symptoms & Phenotypes for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Abdomen Gastrointestinal:
dysphagia

Head And Neck Mouth:
cleft palate
high-arched palate

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Head And Neck Head:
poor head control

Skeletal Hands:
finger contractures

Head And Neck Face:
facial weakness

Skeletal Feet:
pes equinovarus

Prenatal Manifestations Movement:
decreased fetal movements

Growth Other:
failure to thrive

Skeletal Spine:
scoliosis

Respiratory:
respiratory failure
restrictive lung disease
ventilator dependency (in some)

Chest Diaphragm:
diaphragmatic paralysis
diaphragmatic weakness
eventration of diaphragm

Neurologic Central Nervous System:
difficulty running
delayed motor development
seizures (less common)
frequent falling
some may not achieve ambulation

Skeletal:
contractures

Muscle Soft Tissue:
hypotonia, neonatal
fatty replacement
variation in fiber size
weakness, axial and limb muscles, upper limb muscles more affected than lower limbs
myopathic changes seen on emg of affected muscle
more
Head And Neck Neck:
neck weakness
neck contractures

Voice:
hypernasal voice


Clinical features from OMIM:

614399

Human phenotypes related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 high palate 32 HP:0000218
3 pectus excavatum 32 HP:0000767
4 seizures 32 occasional (7.5%) HP:0001250
5 hyporeflexia 32 HP:0001265
6 motor delay 32 HP:0001270
7 areflexia 32 HP:0001284
8 neonatal hypotonia 32 HP:0001319
9 failure to thrive 32 HP:0001508
10 decreased fetal movement 32 HP:0001558
11 nasal speech 32 HP:0001611
12 talipes equinovarus 32 HP:0001762
13 dysphagia 32 HP:0002015
14 restrictive ventilatory defect 32 HP:0002091
15 respiratory distress 32 HP:0002098
16 poor head control 32 HP:0002421
17 scoliosis 32 HP:0002650
18 respiratory failure 32 HP:0002878
19 diaphragmatic paralysis 32 HP:0006597
20 difficulty running 32 HP:0009046
21 facial palsy 32 HP:0010628
22 camptodactyly of finger 32 HP:0100490

UMLS symptoms related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:


torticollis, facial paresis

Drugs & Therapeutics for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

Search Clinical Trials , NIH Clinical Center for Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset

Genetic Tests for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

Genetic tests related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

# Genetic test Affiliating Genes
1 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 29 MEGF10
2 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant 29

Anatomical Context for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

MalaCards organs/tissues related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

41
Lung

Publications for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

Articles related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

# Title Authors Year
1
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). ( 23453856 )
2013
2
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). ( 22101682 )
2011

Variations for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

75
# Symbol AA change Variation ID SNP ID
1 MEGF10 p.Cys326Arg VAR_067470 rs387907073
2 MEGF10 p.Cys774Arg VAR_067471 rs387907072

ClinVar genetic disease variations for Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

6
(show top 50) (show all 331)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEGF10 MEGF10, 10-BP DUP, NT2288 duplication Pathogenic
2 MEGF10 NM_032446.2(MEGF10): c.1559G> A (p.Trp520Ter) single nucleotide variant Pathogenic rs794726677 GRCh38 Chromosome 5, 127420176: 127420176
3 MEGF10 NM_032446.2(MEGF10): c.1559G> A (p.Trp520Ter) single nucleotide variant Pathogenic rs794726677 GRCh37 Chromosome 5, 126755868: 126755868
4 MEGF10 NM_032446.2(MEGF10): c.2301C> A (p.Cys767Ter) single nucleotide variant Pathogenic rs387907071 GRCh37 Chromosome 5, 126776498: 126776498
5 MEGF10 NM_032446.2(MEGF10): c.2301C> A (p.Cys767Ter) single nucleotide variant Pathogenic rs387907071 GRCh38 Chromosome 5, 127440806: 127440806
6 MEGF10 NM_032446.2(MEGF10): c.3144T> G (p.Tyr1048Ter) single nucleotide variant Pathogenic rs794726678 GRCh38 Chromosome 5, 127455519: 127455519
7 MEGF10 NM_032446.2(MEGF10): c.3144T> G (p.Tyr1048Ter) single nucleotide variant Pathogenic rs794726678 GRCh37 Chromosome 5, 126791211: 126791211
8 MEGF10 NM_032446.2(MEGF10): c.1325delC (p.Pro442Hisfs) deletion Pathogenic rs794726679 GRCh38 Chromosome 5, 127419139: 127419139
9 MEGF10 NM_032446.2(MEGF10): c.1325delC (p.Pro442Hisfs) deletion Pathogenic rs794726679 GRCh37 Chromosome 5, 126754831: 126754831
10 MEGF10 NM_032446.2(MEGF10): c.2320T> C (p.Cys774Arg) single nucleotide variant Pathogenic rs387907072 GRCh37 Chromosome 5, 126776517: 126776517
11 MEGF10 NM_032446.2(MEGF10): c.2320T> C (p.Cys774Arg) single nucleotide variant Pathogenic rs387907072 GRCh38 Chromosome 5, 127440825: 127440825
12 MEGF10 NM_032446.2(MEGF10): c.976T> C (p.Cys326Arg) single nucleotide variant Pathogenic rs387907073 GRCh37 Chromosome 5, 126746139: 126746139
13 MEGF10 NM_032446.2(MEGF10): c.976T> C (p.Cys326Arg) single nucleotide variant Pathogenic rs387907073 GRCh38 Chromosome 5, 127410447: 127410447
14 MEGF10 NM_032446.2(MEGF10): c.211C> T (p.Arg71Trp) single nucleotide variant Pathogenic rs387907074 GRCh37 Chromosome 5, 126674906: 126674906
15 MEGF10 NM_032446.2(MEGF10): c.211C> T (p.Arg71Trp) single nucleotide variant Pathogenic rs387907074 GRCh38 Chromosome 5, 127339214: 127339214
16 MEGF10 NM_032446.2(MEGF10): c.1130+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs115184652 GRCh38 Chromosome 5, 127410604: 127410604
17 MEGF10 NM_032446.2(MEGF10): c.1130+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs115184652 GRCh37 Chromosome 5, 126746296: 126746296
18 MEGF10 NM_032446.2(MEGF10): c.116+10T> C single nucleotide variant Benign/Likely benign rs10519949 GRCh38 Chromosome 5, 127331434: 127331434
19 MEGF10 NM_032446.2(MEGF10): c.116+10T> C single nucleotide variant Benign/Likely benign rs10519949 GRCh37 Chromosome 5, 126667126: 126667126
20 MEGF10 NM_032446.2(MEGF10): c.174G> A (p.Thr58=) single nucleotide variant Benign/Likely benign rs12654455 GRCh38 Chromosome 5, 127339177: 127339177
21 MEGF10 NM_032446.2(MEGF10): c.174G> A (p.Thr58=) single nucleotide variant Benign/Likely benign rs12654455 GRCh37 Chromosome 5, 126674869: 126674869
22 MEGF10 NM_032446.2(MEGF10): c.588G> A (p.Gln196=) single nucleotide variant Benign/Likely benign rs3812055 GRCh37 Chromosome 5, 126732399: 126732399
23 MEGF10 NM_032446.2(MEGF10): c.588G> A (p.Gln196=) single nucleotide variant Benign/Likely benign rs3812055 GRCh38 Chromosome 5, 127396707: 127396707
24 MEGF10 NM_032446.2(MEGF10): c.609C> T (p.Cys203=) single nucleotide variant Conflicting interpretations of pathogenicity rs113794264 GRCh37 Chromosome 5, 126732420: 126732420
25 MEGF10 NM_032446.2(MEGF10): c.609C> T (p.Cys203=) single nucleotide variant Conflicting interpretations of pathogenicity rs113794264 GRCh38 Chromosome 5, 127396728: 127396728
26 MEGF10 NM_032446.2(MEGF10): c.616G> A (p.Val206Ile) single nucleotide variant Benign/Likely benign rs3812054 GRCh37 Chromosome 5, 126732427: 126732427
27 MEGF10 NM_032446.2(MEGF10): c.616G> A (p.Val206Ile) single nucleotide variant Benign/Likely benign rs3812054 GRCh38 Chromosome 5, 127396735: 127396735
28 MEGF10 NM_032446.2(MEGF10): c.660-3C> T single nucleotide variant Benign/Likely benign rs6595769 GRCh38 Chromosome 5, 127398673: 127398673
29 MEGF10 NM_032446.2(MEGF10): c.660-3C> T single nucleotide variant Benign/Likely benign rs6595769 GRCh37 Chromosome 5, 126734365: 126734365
30 MEGF10 NM_032446.2(MEGF10): c.984C> T (p.Asn328=) single nucleotide variant Benign rs35550094 GRCh38 Chromosome 5, 127410455: 127410455
31 MEGF10 NM_032446.2(MEGF10): c.984C> T (p.Asn328=) single nucleotide variant Benign rs35550094 GRCh37 Chromosome 5, 126746147: 126746147
32 MEGF10 NM_032446.2(MEGF10): c.1046G> A (p.Arg349His) single nucleotide variant Conflicting interpretations of pathogenicity rs78847357 GRCh38 Chromosome 5, 127410517: 127410517
33 MEGF10 NM_032446.2(MEGF10): c.1046G> A (p.Arg349His) single nucleotide variant Conflicting interpretations of pathogenicity rs78847357 GRCh37 Chromosome 5, 126746209: 126746209
34 MEGF10 NM_032446.2(MEGF10): c.1114C> T (p.Leu372=) single nucleotide variant Benign rs31483 GRCh37 Chromosome 5, 126746277: 126746277
35 MEGF10 NM_032446.2(MEGF10): c.1114C> T (p.Leu372=) single nucleotide variant Benign rs31483 GRCh38 Chromosome 5, 127410585: 127410585
36 MEGF10 NM_032446.2(MEGF10): c.1626C> T (p.Cys542=) single nucleotide variant Likely benign rs146902993 GRCh37 Chromosome 5, 126758397: 126758397
37 MEGF10 NM_032446.2(MEGF10): c.1626C> T (p.Cys542=) single nucleotide variant Likely benign rs146902993 GRCh38 Chromosome 5, 127422705: 127422705
38 MEGF10 NM_032446.2(MEGF10): c.1785T> C (p.Pro595=) single nucleotide variant Benign/Likely benign rs11950427 GRCh38 Chromosome 5, 127433454: 127433454
39 MEGF10 NM_032446.2(MEGF10): c.1785T> C (p.Pro595=) single nucleotide variant Benign/Likely benign rs11950427 GRCh37 Chromosome 5, 126769146: 126769146
40 MEGF10 NM_032446.2(MEGF10): c.2034C> T (p.Asn678=) single nucleotide variant Benign rs117124929 GRCh37 Chromosome 5, 126771111: 126771111
41 MEGF10 NM_032446.2(MEGF10): c.2034C> T (p.Asn678=) single nucleotide variant Benign rs117124929 GRCh38 Chromosome 5, 127435419: 127435419
42 MEGF10 NM_032446.2(MEGF10): c.2076C> T (p.Pro692=) single nucleotide variant Benign rs115309591 GRCh38 Chromosome 5, 127435461: 127435461
43 MEGF10 NM_032446.2(MEGF10): c.2076C> T (p.Pro692=) single nucleotide variant Benign rs115309591 GRCh37 Chromosome 5, 126771153: 126771153
44 MEGF10 NM_032446.2(MEGF10): c.2199C> T (p.Cys733=) single nucleotide variant Conflicting interpretations of pathogenicity rs35591368 GRCh37 Chromosome 5, 126774225: 126774225
45 MEGF10 NM_032446.2(MEGF10): c.2199C> T (p.Cys733=) single nucleotide variant Conflicting interpretations of pathogenicity rs35591368 GRCh38 Chromosome 5, 127438533: 127438533
46 MEGF10 NM_032446.2(MEGF10): c.3003C> T (p.Ser1001=) single nucleotide variant Benign/Likely benign rs35159176 GRCh37 Chromosome 5, 126790280: 126790280
47 MEGF10 NM_032446.2(MEGF10): c.3003C> T (p.Ser1001=) single nucleotide variant Benign/Likely benign rs35159176 GRCh38 Chromosome 5, 127454588: 127454588
48 MEGF10 NM_032446.2(MEGF10): c.3162G> A (p.Pro1054=) single nucleotide variant Benign rs17164938 GRCh37 Chromosome 5, 126791229: 126791229
49 MEGF10 NM_032446.2(MEGF10): c.3162G> A (p.Pro1054=) single nucleotide variant Benign rs17164938 GRCh38 Chromosome 5, 127455537: 127455537
50 MEGF10 NM_032446.2(MEGF10): c.3215G> A (p.Arg1072Lys) single nucleotide variant Benign/Likely benign rs17164935 GRCh38 Chromosome 5, 127455590: 127455590

Expression for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

Search GEO for disease gene expression data for Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset.

Pathways for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

GO Terms for Myopathy, Areflexia, Respiratory Distress, and Dysphagia,...

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