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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: Intellectual Disability (D008607)
Parent Node: Muscular Dystrophies (D009136)
..Starting node ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
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)
..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)
..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, CTD

Term ID:

7533

Name:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D009136

TreeNumbers:

C05.651.534.500/613156 |C10.597.606.643/613156 |C10.668.491.175.500/613156 |C16.320.577/613156 |C23.888.592.604.646/613156 |F03.550.600/613156

Synonyms:

MDDGB2 |MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 613156
MeSH: 613156
OMIM: 613156;

Genes: POMT2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001284	Areflexia
3	HP:0001321	Cerebellar hypoplasia
4	HP:0002120	Cerebral cortical atrophy
5	HP:0003741	Congenital muscular dystrophy
6	HP:0000028	Cryptorchidism
7	HP:0003236	Elevated circulating creatine kinase concentration
8	HP:0010628	Facial palsy
9	HP:0001371	Flexion contracture
10	HP:0001290	Generalized hypotonia
11	HP:0003324	Generalized muscle weakness
12	HP:0002827	Hip dislocation
13	HP:0003307	Hyperlordosis
14	HP:0002079	Hypoplasia of the corpus callosum
15	HP:0001265	Hyporeflexia
16	HP:0001249	Intellectual disability
17	HP:0001712	Left ventricular hypertrophy	HP:0040283
18	HP:0025169	Left ventricular systolic dysfunction	HP:0040283
19	HP:0000158	Macroglossia
20	HP:0000252	Microcephaly
21	HP:0000054	Micropenis
22	HP:0001270	Motor delay
23	HP:0003560	Muscular dystrophy
24	HP:0000545	Myopia
25	HP:0000194	Open mouth
26	HP:0000580	Pigmentary retinopathy	HP:0040283
27	HP:0003701	Proximal muscle weakness
28	HP:0002093	Respiratory insufficiency
29	HP:0002650	Scoliosis
30	HP:0000486	Strabismus
31	HP:0002119	Ventriculomegaly

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_013382.5(POMT2):c.2242T>C (p.Trp748Arg)	29954	POMT2	Pathogenic	267606964	RCV000003380;	N	MedGen:C3150416,OMIM:613156	14	77743730	77743730	NM_013382.5:c.2242T>C	NP_037514.2:p.Trp748Arg	NC_000014.8:g.77743730A>G	OMIM Allelic Variant:607439.0006	C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)	29954	POMT2	Pathogenic	267606969	RCV000030874; RCV000003378;	N	MedGen:C3150411,OMIM:613150; MedGen:C3150416,OMIM:613156	14	77743795	77743795	NM_013382.5:c.2177G>A	NP_037514.2:p.Gly726Glu	NC_000014.8:g.77743795C>T	OMIM Allelic Variant:607439.0013,OMIM Allelic Variant:607439.0015	C3150411 613150 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)	29954	POMT2	Pathogenic	200198778	RCV000003377; RCV000003376; RCV000081569; RCV000193219;	N	Human Phenotype Ontology:HP:0003544,Human Phenotype Ontology:HP:0003560,Human Phenotype Ontology:HP:0003806,MedGen:C1864711; MedGen:C3150411,OMIM:613150; MedGen:C3150416,OMIM:613156; MedGen:CN221809	14	77745107	77745107	NM_013382.5:c.1997A>G	NP_037514.2:p.Tyr666Cys	NC_000014.8:g.77745107T>C	HGMD:CM074457,OMIM Allelic Variant:607439.0004	C3150411 613150 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; C1864711 Muscular dystrophy; CN221809 not provide
NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter)	29954	POMT2	Pathogenic	267606963	RCV000003379;	N	MedGen:C3150416,OMIM:613156	14	77745163	77745163	NM_013382.5:c.1941G>A	NP_037514.2:p.Trp647Ter	NC_000014.8:g.77745163C>T	OMIM Allelic Variant:607439.0005	C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)	29954	POMT2	Pathogenic	267606970	RCV000003387; RCV000030875;	N	MedGen:C3150411,OMIM:613150; MedGen:C3150416,OMIM:613156	14	77762566	77762566	NM_013382.5:c.1057G>A	NP_037514.2:p.Gly353Ser	NC_000014.8:g.77762566C>T	OMIM Allelic Variant:607439.0012,OMIM Allelic Variant:607439.0014	C3150411 613150 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
NM_013382.5(POMT2):c.737G>A (p.Gly246Asp)	29954	POMT2	Pathogenic	267606966	RCV000003384;	N	MedGen:C3150416,OMIM:613156	14	77767512	77767512	NM_013382.5:c.737G>A	NP_037514.2:p.Gly246Asp	NC_000014.8:g.77767512C>T	OMIM Allelic Variant:607439.0016	C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
NM_013382.5(POMT2):c.248+5G>C	29954	POMT2	Pathogenic	587777816	RCV000003390;	N	MedGen:C3150416,OMIM:613156	14	77786772	77786772	NM_013382.5:c.248+5G>C		NC_000014.8:g.77786772C>G	OMIM Allelic Variant:607439.0017	C3150416 613156 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2