EMARDD
MCID: MYP093
MIFTS: 33

Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset (EMARDD)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 56 12 52 29 13 6 39 71
Emardd 56 12 52 58 73
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant 56 29 6
Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome 12 58
Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia 73
Early-Onset Myopathy, Areflexia, Respiratory Distress and Dysphagia 52

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
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:

31
myopathy, areflexia, respiratory distress, and dysphagia, early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases


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

UniProtKB/Swiss-Prot : 73 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 skeletal muscle, and related phenotypes are seizures and pectus excavatum

Disease Ontology : 12 A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has material basis in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.

OMIM : 56 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 10.4
2 dysphagia 10.4

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

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

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 pectus excavatum 31 HP:0000767
3 failure to thrive 31 HP:0001508
4 scoliosis 31 HP:0002650
5 dysphagia 31 HP:0002015
6 facial palsy 31 HP:0010628
7 high palate 31 HP:0000218
8 neonatal hypotonia 31 HP:0001319
9 cleft palate 31 HP:0000175
10 areflexia 31 HP:0001284
11 respiratory distress 31 HP:0002098
12 restrictive ventilatory defect 31 HP:0002091
13 motor delay 31 HP:0001270
14 talipes equinovarus 31 HP:0001762
15 respiratory failure 31 HP:0002878
16 nasal speech 31 HP:0001611
17 hyporeflexia 31 HP:0001265
18 decreased fetal movement 31 HP:0001558
19 camptodactyly of finger 31 HP:0100490
20 diaphragmatic paralysis 31 HP:0006597
21 poor head control 31 HP:0002421
22 difficulty running 31 HP:0009046

Symptoms via clinical synopsis from OMIM:

56
Chest External Features:
pectus excavatum

Skeletal Spine:
scoliosis

Head And Neck Mouth:
cleft palate
high-arched palate

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

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

Abdomen Gastrointestinal:
dysphagia

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

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

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:

40
Lung, Skeletal Muscle

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

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

# Title Authors PMID Year
1
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). 61 56 6
22101682 2011
2
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 56 6
22371254 2012
3
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. 56 6
17236770 2007
4
Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. 61 6
28498977 2017
5
Megf10 regulates the progression of the satellite cell myogenic program. 56
18056409 2007
6
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation. 61
27460346 2016
7
Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes. 61
27170117 2016
8
Myogenin is a positive regulator of MEGF10 expression in skeletal muscle. 61
25044114 2014
9
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). 61
23453856 2013

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

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

6 (show top 50) (show all 195) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEGF10 MEGF10, 10-BP DUP, NT2288duplication Pathogenic 30960
2 MEGF10 NM_032446.3(MEGF10):c.1559G>A (p.Trp520Ter)SNV Pathogenic 30961 rs794726677 5:126755868-126755868 5:127420176-127420176
3 MEGF10 NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter)SNV Pathogenic 30962 rs387907071 5:126776498-126776498 5:127440806-127440806
4 MEGF10 NM_032446.3(MEGF10):c.3144T>G (p.Tyr1048Ter)SNV Pathogenic 30963 rs794726678 5:126791211-126791211 5:127455519-127455519
5 MEGF10 NM_001256545.2(MEGF10):c.1325del (p.Pro442fs)deletion Pathogenic 30964 rs794726679 5:126754828-126754828 5:127419136-127419136
6 MEGF10 NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)SNV Pathogenic 30965 rs387907072 5:126776517-126776517 5:127440825-127440825
7 MEGF10 NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)SNV Pathogenic 30966 rs387907073 5:126746139-126746139 5:127410447-127410447
8 MEGF10 NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)SNV Pathogenic 30967 rs387907074 5:126674906-126674906 5:127339214-127339214
9 MEGF10 NM_001256545.2(MEGF10):c.1557del (p.Trp520fs)deletion Pathogenic 374300 rs1057518682 5:126755866-126755866 5:127420174-127420174
10 MEGF10 NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)SNV Pathogenic 472740 rs989552169 5:126791233-126791233 5:127455541-127455541
11 MEGF10 NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)indel Pathogenic 643447 5:126674893-126674893 5:127339201-127339201
12 MEGF10 NM_001256545.2(MEGF10):c.412+2T>CSNV Likely pathogenic 581419 rs1561599823 5:126705696-126705696 5:127370004-127370004
13 MEGF10 NM_001256545.2(MEGF10):c.2104+1G>ASNV Likely pathogenic 647055 5:126771182-126771182 5:127435490-127435490
14 MEGF10 NM_001256545.2(MEGF10):c.319+1G>CSNV Likely pathogenic 472741 rs931073338 5:126676323-126676323 5:127340631-127340631
15 MEGF10 NM_001256545.2(MEGF10):c.2857-2A>GSNV Conflicting interpretations of pathogenicity 472739 rs199750143 5:126784789-126784789 5:127449097-127449097
16 MEGF10 NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr)SNV Conflicting interpretations of pathogenicity 379372 rs748919606 5:126667059-126667059 5:127331367-127331367
17 MEGF10 NM_001256545.2(MEGF10):c.489C>T (p.Ile163=)SNV Conflicting interpretations of pathogenicity 350638 rs34649270 5:126732300-126732300 5:127396608-127396608
18 MEGF10 NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=)SNV Conflicting interpretations of pathogenicity 350652 rs114704569 5:126758373-126758373 5:127422681-127422681
19 MEGF10 NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu)SNV Conflicting interpretations of pathogenicity 350653 rs182243856 5:126758444-126758444 5:127422752-127422752
20 MEGF10 NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=)SNV Conflicting interpretations of pathogenicity 350661 rs151316424 5:126776486-126776486 5:127440794-127440794
21 MEGF10 NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)SNV Conflicting interpretations of pathogenicity 350670 rs75783175 5:126791283-126791283 5:127455591-127455591
22 MEGF10 NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)SNV Conflicting interpretations of pathogenicity 262078 rs113794264 5:126732420-126732420 5:127396728-127396728
23 MEGF10 NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His)SNV Conflicting interpretations of pathogenicity 262059 rs78847357 5:126746209-126746209 5:127410517-127410517
24 MEGF10 NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=)SNV Conflicting interpretations of pathogenicity 262066 rs199930517 5:126769200-126769200 5:127433508-127433508
25 MEGF10 NM_001256545.2(MEGF10):c.2199C>T (p.Cys733=)SNV Conflicting interpretations of pathogenicity 262072 rs35591368 5:126774225-126774225 5:127438533-127438533
26 MEGF10 NM_001256545.2(MEGF10):c.-18-11C>TSNV Conflicting interpretations of pathogenicity 350634 rs138523651 5:126666972-126666972 5:127331280-127331280
27 MEGF10 NM_001256545.2(MEGF10):c.1002C>T (p.His334=)SNV Conflicting interpretations of pathogenicity 350644 rs142947482 5:126746165-126746165 5:127410473-127410473
28 MEGF10 NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg)SNV Conflicting interpretations of pathogenicity 350651 rs140563851 5:126755873-126755873 5:127420181-127420181
29 MEGF10 NM_001256545.2(MEGF10):c.3026-8C>TSNV Conflicting interpretations of pathogenicity 350669 rs185480820 5:126791085-126791085 5:127455393-127455393
30 MEGF10 NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)SNV Conflicting interpretations of pathogenicity 350663 rs370850456 5:126778769-126778769 5:127443077-127443077
31 MEGF10 NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=)SNV Conflicting interpretations of pathogenicity 350664 rs139929890 5:126778790-126778790 5:127443098-127443098
32 MEGF10 NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=)SNV Conflicting interpretations of pathogenicity 350659 rs558369303 5:126774201-126774201 5:127438509-127438509
33 MEGF10 NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu)SNV Conflicting interpretations of pathogenicity 350665 rs116500162 5:126781311-126781311 5:127445619-127445619
34 MEGF10 NM_001256545.2(MEGF10):c.117-5_117-4insCinsertion Conflicting interpretations of pathogenicity 350635 rs538399152 5:126674807-126674808 5:127339115-127339116
35 MEGF10 NM_001256545.2(MEGF10):c.1841-5T>CSNV Conflicting interpretations of pathogenicity 350656 rs372378202 5:126770374-126770374 5:127434682-127434682
36 MEGF10 NM_001256545.2(MEGF10):c.*4C>GSNV Conflicting interpretations of pathogenicity 350671 rs73783802 5:126793014-126793014 5:127457322-127457322
37 MEGF10 NM_001256545.2(MEGF10):c.*559G>ASNV Uncertain significance 350679 rs886059866 5:126793569-126793569 5:127457877-127457877
38 MEGF10 NM_001256545.2(MEGF10):c.*933C>GSNV Uncertain significance 350683 rs17164927 5:126793943-126793943 5:127458251-127458251
39 MEGF10 NM_001256545.2(MEGF10):c.*3669C>ASNV Uncertain significance 350720 rs886059879 5:126796679-126796679 5:127460987-127460987
40 MEGF10 NM_001256545.2(MEGF10):c.755A>G (p.Glu252Gly)SNV Uncertain significance 350642 rs779137178 5:126734463-126734463 5:127398771-127398771
41 MEGF10 NM_001256545.2(MEGF10):c.780+9C>TSNV Uncertain significance 350643 rs886059863 5:126734497-126734497 5:127398805-127398805
42 MEGF10 NM_001256545.2(MEGF10):c.1426+5G>TSNV Uncertain significance 350649 rs148197499 5:126754937-126754937 5:127419245-127419245
43 MEGF10 NM_001256545.2(MEGF10):c.1726C>T (p.Arg576Cys)SNV Uncertain significance 350654 rs143087353 5:126769087-126769087 5:127433395-127433395
44 MEGF10 NM_001256545.2(MEGF10):c.2150A>G (p.Asn717Ser)SNV Uncertain significance 350658 rs116135607 5:126774176-126774176 5:127438484-127438484
45 MEGF10 NM_001256545.2(MEGF10):c.2284C>A (p.Gln762Lys)SNV Uncertain significance 350660 rs886059864 5:126776481-126776481 5:127440789-127440789
46 MEGF10 NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln)SNV Uncertain significance 350662 rs755400237 5:126776545-126776545 5:127440853-127440853
47 MEGF10 NM_001256545.2(MEGF10):c.*2174T>CSNV Uncertain significance 350701 rs770022175 5:126795184-126795184 5:127459492-127459492
48 MEGF10 NM_001256545.2(MEGF10):c.*2972T>CSNV Uncertain significance 350708 rs886059874 5:126795982-126795982 5:127460290-127460290
49 MEGF10 NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=)SNV Uncertain significance 350646 rs751813170 5:126746243-126746243 5:127410551-127410551
50 MEGF10 NM_001256545.2(MEGF10):c.2762A>G (p.Asn921Ser)SNV Uncertain significance 350666 rs79861077 5:126783282-126783282 5:127447590-127447590

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

73
# Symbol AA change Variation ID SNP ID
1 MEGF10 p.Cys326Arg VAR_067470 rs387907073
2 MEGF10 p.Cys774Arg VAR_067471 rs387907072

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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