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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

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Disease Browser
Parent Node: Diseases (C)
Parent Node: Megacystis microcolon intestinal hypoperistalsis syndrome (C536138)
Parent Node: Visceral Myopathy, Familial (C562574)
..Starting node ..VISCERAL MYOPATHY (OMIM:155310)
Child Nodes:
Sister Nodes:
..VISCERAL MYOPATHY (OMIM:155310)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11612

Name:

VISCERAL MYOPATHY

Definition:

Alternative IDs:

ParentIDs:

MESH:C536138|MESH:C562574

TreeNumbers:

C06.405.469.531.492.500/C536138/155310 |C06.405.469.531.492.500/C562574/155310 |C16.131.077/C536138/155310

Synonyms:

Slim Mappings:

Congenital abnormality|Digestive system disease

Reference:

MedGen: 155310
MeSH: 155310
OMIM: 155310;

Genes: ACTG2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002251	Aganglionic megacolon
3	HP:0002019	Constipation
4	HP:0002014	Diarrhea
5	HP:0002015	Dysphagia
6	HP:0000126	Hydronephrosis
7	HP:0004389	Intestinal pseudo-obstruction
8	HP:0004395	Malnutrition
9	HP:0000021	Megacystis
10	HP:0004388	Microcolon
11	HP:0001733	Pancreatitis	HP:0040283
12	HP:0001561	Polyhydramnios
13	HP:0000076	Vesicoureteral reflux
14	HP:0002013	Vomiting

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_001615.3(ACTG2):c.118C>T (p.Arg40Cys)	72	ACTG2	Pathogenic	587777385	RCV000119268;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74128556	74128556	NM_001615.3:c.118C>T	NP_001606.1:p.Arg40Cys	2:g.74128556C>T	OMIM Allelic Variant:102545.0006	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.119G>A (p.Arg40His)	72	ACTG2	Pathogenic	587777386	RCV000119271;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74128557	74128557	NM_001615.3:c.119G>A	NP_001606.1:p.Arg40His	2:g.74128557G>A	OMIM Allelic Variant:102545.0005	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.134T>C (p.Met45Thr)	72	ACTG2	Pathogenic	864309490	RCV000202556;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74129494	74129494	NM_001615.3:c.134T>C	NP_001606.1:p.Met45Thr	NC_000002.11:g.74129494T>C	-	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.187C>G (p.Arg63Gly)	72	ACTG2	Pathogenic	864309491	RCV000202512;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74129547	74129547	NM_001615.3:c.187C>G	NP_001606.1:p.Arg63Gly	NC_000002.11:g.74129547C>G	-	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.255+210C>A	72	ACTG2	Pathogenic	768290597	RCV000202559;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74129825	74129825	NM_001615.3:c.255+210C>A		NC_000002.11:g.74129825C>A	-	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.400T>A (p.Tyr134Asn)	72	ACTG2	Pathogenic	587777388	RCV000119274;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74136215	74136215	NM_001615.3:c.400T>A	NP_001606.1:p.Tyr134Asn	2:g.74136215T>A	OMIM Allelic Variant:102545.0009	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.442C>A (p.Arg148Ser)	72	ACTG2	Pathogenic	587777383	RCV000119266; RCV000210361;	N	MedGen:C0238062, Orphanet:ORPHA2978; MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74136257	74136257	NM_001615.3:c.442C>A	NP_001606.1:p.Arg148Ser	2:g.74136257C>A	OMIM Allelic Variant:102545.0001	C0238062 Chronic intestinal pseudoobstruction; C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.443G>T (p.Arg148Leu)	72	ACTG2	Likely pathogenic	730880256	RCV000157596;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74136258	74136258	NM_001615.3:c.443G>T	NP_001606.1:p.Arg148Leu	NC_000002.11:g.74136258G>T	-	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.532C>T (p.Arg178Cys)	72	ACTG2	Pathogenic	78001248	RCV000119269;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74140692	74140692	NM_001615.3:c.532C>T	NP_001606.1:p.Arg178Cys	NC_000002.11:g.74140692C>T	OMIM Allelic Variant:102545.0003	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.533G>T (p.Arg178Leu)	72	ACTG2	Pathogenic	587777384	RCV000119267;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74140693	74140693	NM_001615.3:c.533G>T	NP_001606.1:p.Arg178Leu	2:g.74140693G>T	OMIM Allelic Variant:102545.0002	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.533G>A (p.Arg178His)	72	ACTG2	Pathogenic	587777384	RCV000119270; RCV000190653;	N	MedGen:C0950123; MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74140693	74140693	NM_001615.3:c.533G>A	NP_001606.1:p.Arg178His	2:g.74140693G>A	OMIM Allelic Variant:102545.0004	C0950123 Inborn genetic diseases; C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.593G>A (p.Gly198Asp)	72	ACTG2	Pathogenic	864309492	RCV000202479;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74140753	74140753	NM_001615.3:c.593G>A	NP_001606.1:p.Gly198Asp	NC_000002.11:g.74140753G>A	-	C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.769C>T (p.Arg257Cys)	72	ACTG2	Pathogenic	587777387	RCV000119272; RCV000210354; RCV000190747;	N	Human Phenotype Ontology:HP:0000021,Human Phenotype Ontology:HP:0002838,MedGen:C1855311; MedGen:C0238062, Orphanet:ORPHA2978; MedGen:C0950123; MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74141962	74141962	NM_001615.3:c.769C>T	NP_001606.1:p.Arg257Cys	2:g.74141962C>T	OMIM Allelic Variant:102545.0007	C0238062 Chronic intestinal pseudoobstruction; C0950123 Inborn genetic diseases; C1855311 Megacystis; C1835084 155310 Visceral myopathy
NM_001615.3(ACTG2):c.806_807delGCinsAA (p.Gly269Glu)	72	ACTG2	Pathogenic	587777870	RCV000144704;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	2	74143711	74143712	NM_001615.3:c.806_807delGCinsAA	NP_001606.1:p.Gly269Glu	NC_000002.11:g.74143711_74143712delGCinsAA	-	C1835084 155310 Visceral myopathy
NM_022844.2(MYH11):c.3598A>T (p.Lys1200Ter)	4629	MYH11	Likely pathogenic	786205435	RCV000172830;	N	MedGen:C1835084,OMIM:155310, Orphanet:ORPHA2241	16	15826474	15826474	NM_022844.2:c.3598A>T	NP_074035.1:p.Lys1200Ter	NC_000016.9:g.15826474T>A	-	C1835084 155310 Visceral myopathy