EMARDD
MCID: MYP093
MIFTS: 41

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 15
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 seizure and scoliosis

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
3 hemophagocytic lymphohistiocytosis, familial, 1 9.9 IFT122 ERCC6
4 carey-fineman-ziter syndrome 9.8 MYMK CACFD1
5 congenital fiber-type disproportion 9.8 MYMK MEGF10

Graphical network of the top 20 diseases related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:



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

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

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
dysphagia

Chest External Features:
pectus excavatum

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

Head And Neck Mouth:
cleft palate
high-arched palate

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

MGI Mouse Phenotypes related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 CACFD1 ERCC6 IFT122 MEGF10 MEGF8 MYMK

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). 6 56 61
22101682 2011
2
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. 6 56
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 342) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEGF10 NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter)SNV Pathogenic 472740 rs989552169 5:126791233-126791233 5:127455541-127455541
2 MEGF10 NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter)indel Pathogenic 643447 5:126674893-126674893 5:127339201-127339201
3 MEGF10 NM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter)SNV Pathogenic 864627 5:126732361-126732361 5:127396669-127396669
4 MEGF10 MEGF10, 10-BP DUP, NT2288duplication Pathogenic 30960
5 MEGF10 NM_032446.3(MEGF10):c.1559G>A (p.Trp520Ter)SNV Pathogenic 30961 rs794726677 5:126755868-126755868 5:127420176-127420176
6 MEGF10 NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter)SNV Pathogenic 30962 rs387907071 5:126776498-126776498 5:127440806-127440806
7 MEGF10 NM_032446.3(MEGF10):c.3144T>G (p.Tyr1048Ter)SNV Pathogenic 30963 rs794726678 5:126791211-126791211 5:127455519-127455519
8 MEGF10 NM_001256545.2(MEGF10):c.1325del (p.Pro442fs)deletion Pathogenic 30964 rs794726679 5:126754828-126754828 5:127419136-127419136
9 MEGF10 NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg)SNV Pathogenic 30965 rs387907072 5:126776517-126776517 5:127440825-127440825
10 MEGF10 NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg)SNV Pathogenic 30966 rs387907073 5:126746139-126746139 5:127410447-127410447
11 MEGF10 NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp)SNV Pathogenic 30967 rs387907074 5:126674906-126674906 5:127339214-127339214
12 MEGF10 NM_001256545.2(MEGF10):c.1557del (p.Trp520fs)deletion Pathogenic 374300 rs1057518682 5:126755866-126755866 5:127420174-127420174
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.412+2T>CSNV Likely pathogenic 581419 rs1561599823 5:126705696-126705696 5:127370004-127370004
15 MEGF10 NM_001256545.2(MEGF10):c.319+1G>CSNV Likely pathogenic 472741 rs931073338 5:126676323-126676323 5:127340631-127340631
16 MEGF10 NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=)SNV Conflicting interpretations of pathogenicity 472731 rs145815113 5:126746171-126746171 5:127410479-127410479
17 MEGF10 NM_001256545.2(MEGF10):c.2362+2dupduplication Conflicting interpretations of pathogenicity 420779 rs762560221 5:126776560-126776561 5:127440868-127440869
18 MEGF10 NM_001256545.2(MEGF10):c.2857-2A>GSNV Conflicting interpretations of pathogenicity 472739 rs199750143 5:126784789-126784789 5:127449097-127449097
19 MEGF10 NM_001256545.2(MEGF10):c.1975+10G>ASNV Conflicting interpretations of pathogenicity 511785 rs148814585 5:126770523-126770523 5:127434831-127434831
20 MEGF10 NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=)SNV Conflicting interpretations of pathogenicity 508803 rs371253627 5:126784877-126784877 5:127449185-127449185
21 MEGF10 NM_001256545.2(MEGF10):c.2157T>C (p.His719=)SNV Conflicting interpretations of pathogenicity 539971 rs374544972 5:126774183-126774183 5:127438491-127438491
22 MEGF10 NM_001256545.2(MEGF10):c.2919G>A (p.Val973=)SNV Conflicting interpretations of pathogenicity 539970 rs770936974 5:126784853-126784853 5:127449161-127449161
23 MEGF10 NM_001256545.2(MEGF10):c.609C>T (p.Cys203=)SNV Conflicting interpretations of pathogenicity 262078 rs113794264 5:126732420-126732420 5:127396728-127396728
24 MEGF10 NM_001256545.2(MEGF10):c.1130+3G>ASNV Conflicting interpretations of pathogenicity 252757 rs115184652 5:126746296-126746296 5:127410604-127410604
25 MEGF10 NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His)SNV Conflicting interpretations of pathogenicity 262059 rs78847357 5:126746209-126746209 5:127410517-127410517
26 MEGF10 NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=)SNV Conflicting interpretations of pathogenicity 262063 rs146902993 5:126758397-126758397 5:127422705-127422705
27 MEGF10 NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=)SNV Conflicting interpretations of pathogenicity 262066 rs199930517 5:126769200-126769200 5:127433508-127433508
28 MEGF10 NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=)SNV Conflicting interpretations of pathogenicity 262073 rs35159176 5:126790280-126790280 5:127454588-127454588
29 MEGF10 NM_001256545.2(MEGF10):c.-18-11C>TSNV Conflicting interpretations of pathogenicity 350634 rs138523651 5:126666972-126666972 5:127331280-127331280
30 MEGF10 NM_001256545.2(MEGF10):c.1002C>T (p.His334=)SNV Conflicting interpretations of pathogenicity 350644 rs142947482 5:126746165-126746165 5:127410473-127410473
31 MEGF10 NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg)SNV Conflicting interpretations of pathogenicity 350651 rs140563851 5:126755873-126755873 5:127420181-127420181
32 MEGF10 NM_001256545.2(MEGF10):c.2857-8T>GSNV Conflicting interpretations of pathogenicity 383117 rs201148765 5:126784783-126784783 5:127449091-127449091
33 MEGF10 NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=)SNV Conflicting interpretations of pathogenicity 387811 rs146075981 5:126755809-126755809 5:127420117-127420117
34 MEGF10 NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=)SNV Conflicting interpretations of pathogenicity 384732 rs36061366 5:126783277-126783277 5:127447585-127447585
35 MEGF10 NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=)SNV Conflicting interpretations of pathogenicity 388384 rs144450528 5:126791247-126791247 5:127455555-127455555
36 MEGF10 NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr)SNV Conflicting interpretations of pathogenicity 379372 rs748919606 5:126667059-126667059 5:127331367-127331367
37 MEGF10 NM_001256545.2(MEGF10):c.522G>A (p.Arg174=)SNV Conflicting interpretations of pathogenicity 382916 rs201076330 5:126732333-126732333 5:127396641-127396641
38 MEGF10 NM_001256545.2(MEGF10):c.303C>T (p.Ser101=)SNV Conflicting interpretations of pathogenicity 387006 rs77203884 5:126676306-126676306 5:127340614-127340614
39 MEGF10 NM_001256545.2(MEGF10):c.489C>T (p.Ile163=)SNV Conflicting interpretations of pathogenicity 350638 rs34649270 5:126732300-126732300 5:127396608-127396608
40 MEGF10 NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=)SNV Conflicting interpretations of pathogenicity 350652 rs114704569 5:126758373-126758373 5:127422681-127422681
41 MEGF10 NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu)SNV Conflicting interpretations of pathogenicity 350653 rs182243856 5:126758444-126758444 5:127422752-127422752
42 MEGF10 NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=)SNV Conflicting interpretations of pathogenicity 350661 rs151316424 5:126776486-126776486 5:127440794-127440794
43 MEGF10 NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)SNV Conflicting interpretations of pathogenicity 350670 rs75783175 5:126791283-126791283 5:127455591-127455591
44 MEGF10 NM_001256545.2(MEGF10):c.3026-8C>TSNV Conflicting interpretations of pathogenicity 350669 rs185480820 5:126791085-126791085 5:127455393-127455393
45 MEGF10 NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=)SNV Conflicting interpretations of pathogenicity 350659 rs558369303 5:126774201-126774201 5:127438509-127438509
46 MEGF10 NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu)SNV Conflicting interpretations of pathogenicity 350665 rs116500162 5:126781311-126781311 5:127445619-127445619
47 MEGF10 NM_001256545.2(MEGF10):c.117-5_117-4insCinsertion Conflicting interpretations of pathogenicity 350635 rs538399152 5:126674807-126674808 5:127339115-127339116
48 MEGF10 NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)SNV Conflicting interpretations of pathogenicity 350663 rs370850456 5:126778769-126778769 5:127443077-127443077
49 MEGF10 NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=)SNV Conflicting interpretations of pathogenicity 350664 rs139929890 5:126778790-126778790 5:127443098-127443098
50 MEGF10 NM_001256545.2(MEGF10):c.1841-5T>CSNV Conflicting interpretations of pathogenicity 350656 rs372378202 5:126770374-126770374 5:127434682-127434682

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,...

Cellular components related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.26 SPATA6 MEGF10 IFT122 AJM1
2 cilium GO:0005929 8.8 SPATA6 IFT122 AJM1

Biological processes related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.26 MYMK MEGF10
2 negative regulation of smoothened signaling pathway GO:0045879 9.16 MEGF8 IFT122
3 homotypic cell-cell adhesion GO:0034109 8.96 MEGF11 MEGF10
4 embryonic heart tube left/right pattern formation GO:0060971 8.62 MEGF8 IFT122

Molecular functions related to Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.62 SCARF1 MEGF10

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

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