MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- Disease Portal in Mondo
- HPO Ontology Browser
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
- PMD Virtual Registry
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Muscular Dystrophies (D009136)
..Starting node ..MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy with Cataract (C563849)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Bassoe syndrome (C537661)
..Bethlem myopathy (C535436)
..Distal Myopathies (D049310) 11
..Filaminopathy, autosomal dominant (C537932)
..Glycogen Storage Disease Type VII (D006014)
..Muscular Dystrophies, Limb-Girdle (D049288) 33
..Muscular dystrophy congenital, merosin negative (C537384)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Muscular Dystrophy, Barnes Type (C563558)
..Muscular Dystrophy, Cardiac Type (C563247)
..Muscular Dystrophy, Congenital, 1B (C565748)
..Muscular Dystrophy, Congenital, 1C (C564691)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Muscular Dystrophy, Congenital, Lmna-Related (C567708)
..Muscular Dystrophy, Congenital, Megaconial Type (C566527) L: 00415;
..Muscular Dystrophy, Congenital, Merosin-Positive (C563716)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..Muscular Dystrophy, Congenital, with Rapid Progression (C564983)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Facioscapulohumeral (D020391) 4
..Muscular Dystrophy, Mabry Type (C564096)
..Muscular Dystrophy, Oculopharyngeal (D039141) 1
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Myopathy, Myofibrillar, Desmin-Related (C563319)
..Myopathy, Myofibrillar, Zasp-Related (C563718)
..MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
..Myotonic Dystrophy (D009223) 1
..Oculopharyngodistal Myopathy (C563508)
..Rigid spine syndrome (C535683)
..Scleroatonic muscular dystrophy (C537521)
..Vacuolar Neuromyopathy (C566617)
..Walker-Warburg Syndrome (D058494) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8499

Name:

MYOPATHY, SCAPULOHUMEROPERONEAL

Definition:

Alternative IDs:

ParentIDs:

MESH:D009136

TreeNumbers:

C05.651.534.500/616852 |C10.668.491.175.500/616852 |C16.320.577/616852

Synonyms:

SHPM

Slim Mappings:

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

Reference:

MedGen: 616852
MeSH: 616852
OMIM: 616852;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001771	Achilles tendon contracture
3	HP:0001284	Areflexia
4	HP:0003687	Centrally nucleated skeletal muscle fibers
5	HP:0010628	Facial palsy
6	HP:0009027	Foot dorsiflexor weakness
7	HP:0009130	Hand muscle atrophy
8	HP:0003307	Hyperlordosis
9	HP:0001265	Hyporeflexia
10	HP:0009025	Increased connective tissue
11	HP:0003557	Increased variability in muscle fiber diameter
12	HP:0003722	Neck flexor weakness	HP:0040284
13	HP:0003323	Progressive muscle weakness
14	HP:0001315	Reduced tendon reflexes
15	HP:0003691	Scapular winging	HP:0040284
16	HP:0002650	Scoliosis
17	HP:0003677	Slow progression
18	HP:0003828	Variable expressivity
19	HP:0031189	Wrist drop

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001100.4(ACTA1):c.1027A>G (p.Ile343Val)	58	ACTA1	Uncertain significance	-1	RCV002290281;	N	MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229567353	229567353	229567353	-
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)	58	ACTA1	Pathogenic	rs1553255357	RCV000498676\|RCV001387151\|RCV001813784;	N	MedGen:CN517202\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229567637	229567637	1:g.229567637G>A	ClinGen:CA345146227	CN517202 not provided;
NM_001100.4(ACTA1):c.809-19_809-18insA	58	ACTA1	Uncertain significance	rs1659946693	RCV001198101;	N	MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229567667	229567668	1:g.229567667_229567668insT	-
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	58	ACTA1	Pathogenic/Likely pathogenic	rs121909523	RCV000019945\|RCV001270724\|RCV001804741\|RCV002504811;	N	MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800\|\|MedGen:CN517202\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977; MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800; MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020	1	229567767	229567767	1:g.229567767T>A	ClinGen:CA258136,UniProtKB:P68133#VAR_011685,OMIM:102610.0005	C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp)	58	ACTA1	Pathogenic	rs869312739	RCV000210030\|RCV000414423\|RCV001853353;	N	MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977\|MedGen:CN517202\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800	1	229568042	229568042	1:g.229568042C>A	ClinGen:CA353465,UniProtKB:P68133#VAR_076426,OMIM:102610.0018	C4225181 616852 Myopathy, scapulohumeroperoneal;
NM_001100.4(ACTA1):c.493G>C (p.Val165Leu)	58	ACTA1	Pathogenic	rs121909522	RCV000664237;	N	MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229568140	229568140	NC_000001.10:g.229568140C>G	-	C4225181 616852 Myopathy, scapulohumeroperoneal;
NM_001100.4(ACTA1):c.455-53A>C	58	ACTA1	Benign	rs527621	RCV000836004\|RCV001549052\|RCV001549053\|RCV001549051;	N	MedGen:CN517202\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800\|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229568231	229568231	1:g.229568231T>G	-
NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)	58	ACTA1	Likely pathogenic	-1	RCV002283813;	N	MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229568309	229568309	229568309	-
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	58	ACTA1	Pathogenic/Likely pathogenic	rs371410845	RCV000261100\|RCV001814140\|RCV002519066;	N	MedGen:CN517202\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800; MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977; MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800	1	229568322	229568322	1:g.229568322G>T	ClinGen:CA1442883	CN517202 not provided;
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr)	58	ACTA1	Uncertain significance	rs1659986179	RCV001196206;	N	MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229568802	229568802	1:g.229568802C>T	-
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)	58	ACTA1	Pathogenic/Likely pathogenic	rs367543048	RCV000034934\|RCV000693406\|RCV001198948;	N	MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020\|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800\|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977	1	229568847	229568847	1:g.229568847C>T	ClinGen:CA344557	C0546264 255310 Congenital myopathy with fiber type disproportion;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen