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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cardiomyopathies (D009202)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7682

Name:

Myopathy, Early-Onset, with Fatal Cardiomyopathy

Definition:

Alternative IDs:

OMIM:611705

ParentIDs:

MESH:D009135|MESH:D009202

TreeNumbers:

C05.651/C567129 |C10.668.491/C567129 |C14.280.238/C567129

Synonyms:

EOMFC

Slim Mappings:

Cardiovascular disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C567129
MeSH: C567129
OMIM: 611705;

Genes: TTN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0003593	Infantile onset
4	HP:0011675	Arrhythmia
5	HP:0008981	Calf muscle hypertrophy
6	HP:0003687	Centrally nucleated skeletal muscle fibers
7	HP:0001644	Dilated cardiomyopathy
8	HP:0003236	Elevated circulating creatine kinase concentration	HP:0040283
9	HP:0010628	Facial palsy
10	HP:0001371	Flexion contracture
11	HP:0003324	Generalized muscle weakness
12	HP:0001270	Motor delay
13	HP:0003198	Myopathy
14	HP:0000508	Ptosis
15	HP:0002650	Scoliosis
16	HP:0001699	Sudden death

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_001267550.2(TTN):c.107163_107167delTACTT (p.Phe35721Leufs)	-1	-	Likely pathogenic	794727544	RCV000177506;	N	MedGen:C2673677,OMIM:611705,ORPHA:289377	2	179393311	179393315	NM_001267550.2:c.107163_107167delTACTT	NP_001254479.2:p.Phe35721Leufs	NC_000002.11:g.179393311_179393315delAAGTA	-	C2673677 611705 Myopathy, early-onset, with fatal cardiomyopathy
NM_133378.4(TTN):c.99250C>T (p.Arg33084Ter)	-1	-	Likely pathogenic	565675340	RCV000197581;	N	MedGen:C1837342,OMIM:608807,ORPHA:140922; MedGen:C2673677,OMIM:611705,ORPHA:289377	2	179393524	179393524	NM_133378.4:c.99250C>T	NP_596869.4:p.Arg33084Ter	NC_000002.11:g.179393524G>A	-	C1837342 608807 Limb-girdle muscular dystrophy, type 2J; C2673677 611705 Myopathy, early-onset, with fatal cardiomyopathy
TTN:c.106668delA (p.Lys35556Argfs)	-1	-	Pathogenic	587776772	RCV000013496;	N	MedGen:C2673677,OMIM:611705,ORPHA:289377	2	179393810	179393810	NM_133378.4:c.98964delA	NP_596869.4:p.Lys32988Asnfs		OMIM Allelic Variant:188840.0012	C2673677 611705 Myopathy, early-onset, with fatal cardiomyopathy
NM_133378.4(TTN):c.98049dupA (p.Arg32684Thrfs)	-1	-	Likely pathogenic	863224937	RCV000197581;	N	MedGen:C1837342,OMIM:608807,ORPHA:140922; MedGen:C2673677,OMIM:611705,ORPHA:289377	2	179395589	179395589	NM_133378.4:c.98049dupA	NP_596869.4:p.Arg32684Thrfs	NC_000002.11:g.179395589dupT	-	C1837342 608807 Limb-girdle muscular dystrophy, type 2J; C2673677 611705 Myopathy, early-onset, with fatal cardiomyopathy
NM_133378.4(TTN):c.97820_97827delACCAAGTG (p.Gln32608Hisfs)	-1	-	Pathogenic	199469665	RCV000013497;	N	MedGen:C2673677,OMIM:611705,ORPHA:289377	2	179395811	179395818	NM_133378.4:c.97820_97827delACCAAGTG	NP_596869.4:p.Gln32608Hisfs	NC_000002.11:g.179395811_179395818delCACTTGGT	OMIM Allelic Variant:188840.0013	C2673677 611705 Myopathy, early-onset, with fatal cardiomyopathy