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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Muscular Diseases (D009135)
Parent Node: Respiratory Insufficiency (D012131)
..Starting node ..Hereditary Myopathy with Early Respiratory Failure (C566343)
Child Nodes:
Sister Nodes:
..Acidosis, Respiratory (D000142)
..Airway Obstruction (D000402) 1
..Asphyxiating Thoracic Dystrophy 3 (C567761) 1
..Circumvallate Placenta Syndrome (C565847)
..Granuloma, Laryngeal (D006102)
..Hantavirus Pulmonary Syndrome (D018804)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypoventilation (D007040) 3
..Infantile Apparent Life-Threatening Event (D057768)
..Positive-Pressure Respiration, Intrinsic (D018467)
..Respiratory Paralysis (D012133)
..Respiratory Underresponsiveness to Hypoxia and Hypercapnia (C564848)
..Tauopathy and Respiratory Failure (C563580)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5115

Name:

Hereditary Myopathy with Early Respiratory Failure

Definition:

Alternative IDs:

OMIM:603689

ParentIDs:

MESH:D009135|MESH:D012131|MESH:D030342

TreeNumbers:

C05.651/C566343 |C08.618.846/C566343 |C10.668.491/C566343 |C16.320/C566343

Synonyms:

Edstrom Myopathy |HMERF |MPRM |Myopathy, Proximal, with Early Respiratory Muscle Involvement

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Respiratory tract disease

Reference:

MedGen: C566343
MeSH: C566343
OMIM: 603689;

Genes: TTN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009113	Diaphragmatic weakness
3	HP:0009027	Foot dorsiflexor weakness
4	HP:0003722	Neck flexor weakness
5	HP:0003701	Proximal muscle weakness

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_133379.4(TTN):c.*265+210976C>T	-1	-	Uncertain significance	140319117	RCV000119019; RCV000177500; RCV000154875;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464; MedGen:CN169374; MedGen:CN221809	2	179399071	179399071	NM_133379.4:c.*265+210976C>T			-	C1863599 603689 Hereditary myopathy with early respiratory failure; CN221809 not provided; CN169374 not specified
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp)	-1	-	Pathogenic	869320744	RCV000119027;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410591	179410591	NM_001267550.2:c.95372G>A	NP_001254479.2:p.Gly31791Asp		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)	-1	-	Pathogenic	869320743	RCV000119026;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410605	179410605	NM_001267550.2:c.95358C>G	NP_001254479.2:p.Asn31786Lys		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	-1	-	Pathogenic	753334568	RCV000119025;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410768	179410768	NM_001267550.2:c.95195C>T	NP_001254479.2:p.Pro31732Leu	NC_000002.11:g.179410768G>A	-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)	-1	-	Pathogenic	869320742	RCV000119024;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410776	179410776	NM_001267550.2:c.95187G>C	NP_001254479.2:p.Trp31729Cys		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)	-1	-	Pathogenic	786205367	RCV000119023;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410777	179410777	NM_001267550.2:c.95186G>T	NP_001254479.2:p.Trp31729Leu		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)	-1	-	Pathogenic	869320741	RCV000119022;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410778	179410778	NM_001267550.2:c.95185T>C	NP_001254479.2:p.Trp31729Arg		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	-1	-	Pathogenic	869320740	RCV000119021;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410829	179410829	NM_001267550.2:c.95134T>C	NP_001254479.2:p.Cys31712Arg		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)	-1	-	Pathogenic	869320739	RCV000119020;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179410837	179410837	NM_001267550.2:c.95126C>G	NP_001254479.2:p.Pro31709Arg		-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001267550.2(TTN):c.82544_82545insTTAG (p.Arg27515Serfs)	-1	-	Likely pathogenic	797044697	RCV000176832;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464	2	179428314	179428315	NM_001267550.2:c.82544_82545insTTAG	NP_001254479.2:p.Arg27515Serfs	NC_000002.11:g.179428314_179428315insCTAA	-	C1863599 603689 Hereditary myopathy with early respiratory failure
NM_001256850.1(TTN):c.835C>T (p.Arg279Trp)	7273	TTN	Pathogenic;Uncertain significance	138060032	RCV000013495; RCV000172493; RCV000219791;	N	MedGen:C1863599,OMIM:603689,ORPHA:178464; MedGen:CN169374; MedGen:CN221809	2	179664293	179664293	NM_001256850.1:c.835C>T	NP_001243779.1:p.Arg279Trp	NC_000002.11:g.179664293G>A	OMIM Allelic Variant:188840.0011	C1863599 603689 Hereditary myopathy with early respiratory failure; CN221809 not provided; CN169374 not specified