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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
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:

7696

Name:

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe

Definition:

Alternative IDs:

OMIM:300717

ParentIDs:

MESH:D009135|MESH:D040181

TreeNumbers:

C05.651/C567469 |C10.668.491/C567469 |C16.320.322/C567469

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C567469
MeSH: C567469
OMIM: 300717;

Genes: FHL1;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001284	Areflexia
3	HP:0003236	Elevated circulating creatine kinase concentration
4	HP:0001371	Flexion contracture
5	HP:0001265	Hyporeflexia
6	HP:0003557	Increased variability in muscle fiber diameter
7	HP:0003701	Proximal muscle weakness
8	HP:0003678	Rapidly progressive
9	HP:0002747	Respiratory insufficiency due to 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_001159702.2(FHL1):c.367C>T (p.His123Tyr)	2273	FHL1	Pathogenic	122458142	RCV000012306;	N	MedGen:C2678027,OMIM:300717	X	135289986	135289986	NM_001159702.2:c.367C>T	NP_001153174.1:p.His123Tyr	NC_000023.10:g.135289986C>T	OMIM Allelic Variant:300163.0004	C2678027 300717 Myopathy, reducing body, X-linked, early-onset, severe
NM_001159702.2(FHL1):c.368A>T (p.His123Leu)	2273	FHL1	Pathogenic	267606812	RCV000012317;	N	MedGen:C2678027,OMIM:300717	X	135289987	135289987	NM_001159702.2:c.368A>T	NP_001153174.1:p.His123Leu	NC_000023.10:g.135289987A>T	OMIM Allelic Variant:300163.0015	C2678027 300717 Myopathy, reducing body, X-linked, early-onset, severe
NM_001159702.2(FHL1):c.369C>G (p.His123Gln)	2273	FHL1	Pathogenic	267606813	RCV000012318;	N	MedGen:C2678027,OMIM:300717	X	135289988	135289988	NM_001159702.2:c.369C>G	NP_001153174.1:p.His123Gln	NC_000023.10:g.135289988C>G	OMIM Allelic Variant:300163.0016	C2678027 300717 Myopathy, reducing body, X-linked, early-onset, severe
NM_001159702.2(FHL1):c.395G>T (p.Cys132Phe)	2273	FHL1	Pathogenic	122458143	RCV000012307;	N	MedGen:C2678027,OMIM:300717	X	135290014	135290014	NM_001159702.2:c.395G>T	NP_001153174.1:p.Cys132Phe	NC_000023.10:g.135290014G>T	OMIM Allelic Variant:300163.0005	C2678027 300717 Myopathy, reducing body, X-linked, early-onset, severe
NM_001159702.2(FHL1):c.449G>A (p.Cys150Tyr)	2273	FHL1	Pathogenic	122459146	RCV000012310;	N	MedGen:C2678027,OMIM:300717	X	135290068	135290068	NM_001159702.2:c.449G>A	NP_001153174.1:p.Cys150Tyr	NC_000023.10:g.135290068G>A	OMIM Allelic Variant:300163.0008	C2678027 300717 Myopathy, reducing body, X-linked, early-onset, severe