Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Muscular Dystrophies (D009136)
..Starting node ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
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:

7532

Name:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D009136

TreeNumbers:

C05.651.534.500/613155 |C10.597.606.643/613155 |C10.668.491.175.500/613155 |C16.320.577/613155 |C23.888.592.604.646/613155 |F03.550.600/613155

Synonyms:

MDDGB1 |MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED

Slim Mappings:

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

Reference:

MedGen: 613155
MeSH: 613155
OMIM: 613155;

Genes: POMT1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001344	Absent speech
4	HP:0001638	Cardiomyopathy	HP:0040283
5	HP:0007033	Cerebellar dysplasia
6	HP:0001321	Cerebellar hypoplasia
7	HP:0003741	Congenital muscular dystrophy
8	HP:0000519	Developmental cataract	HP:0040283
9	HP:0003236	Elevated circulating creatine kinase concentration
10	HP:0002280	Enlarged cisterna magna
11	HP:0010628	Facial palsy
12	HP:0001371	Flexion contracture
13	HP:0001263	Global developmental delay
14	HP:0002079	Hypoplasia of the corpus callosum
15	HP:0002540	Inability to walk
16	HP:0010864	Intellectual disability, severe
17	HP:0000158	Macroglossia
18	HP:0000252	Microcephaly
19	HP:0003560	Muscular dystrophy
20	HP:0000545	Myopia	HP:0040283
21	HP:0000556	Retinal dystrophy	HP:0040283

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_007171.3(POMT1):c.193G>A (p.Gly65Arg)	10585	POMT1	Pathogenic	119462983	RCV000003400;	N	MedGen:C3150415,OMIM:613155	9	134381571	134381571	NM_007171.3:c.193G>A	NP_009102.3:p.Gly65Arg	NC_000009.11:g.134381571G>A	OMIM Allelic Variant:607423.0006,OMIM Allelic Variant:607423.0010	C3150415 613155 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
NM_007171.3(POMT1):c.598G>C (p.Ala200Pro)	10585	POMT1	Pathogenic	119462982	RCV000179928; RCV000003399; RCV000179929;	N	MedGen:C0265221,OMIM:236670,SNOMED CT:111504002; MedGen:C1836373,OMIM:609308,ORPHA:86812; MedGen:C3150415,OMIM:613155	9	134385188	134385188	NM_007171.3:c.598G>C	NP_009102.3:p.Ala200Pro	NC_000009.11:g.134385188G>C	OMIM Allelic Variant:607423.0005	C3150415 613155 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; C1836373 609308 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; C0265221 236670 Walker-Warburg congenital muscular dystrophy
NM_007171.3(POMT1):c.1540C>T (p.Arg514Ter)	10585	POMT1	Pathogenic	119462985	RCV000003401; RCV000174912; RCV000153046;	N	MedGen:C0265221,OMIM:236670,SNOMED CT:111504002; MedGen:C3150415,OMIM:613155; MedGen:CN221809	9	134394332	134394332	NM_007171.3:c.1540C>T	NP_009102.3:p.Arg514Ter	NC_000009.11:g.134394332C>T	HGMD:CM061914,OMIM Allelic Variant:607423.0008	C3150415 613155 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; CN221809 not provided; C0265221 236670 Walker-Warburg congenital muscular dystrophy
NM_007171.3(POMT1):c.1746G>C (p.Trp582Cys)	10585	POMT1	Pathogenic	119462984	RCV000003398;	N	MedGen:C3150415,OMIM:613155	9	134395562	134395562	NM_007171.3:c.1746G>C	NP_009102.3:p.Trp582Cys	NC_000009.11:g.134395562G>C	OMIM Allelic Variant:607423.0007	C3150415 613155 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
NM_007171.3(POMT1):c.1770G>C (p.Gln590His)	10585	POMT1	Pathogenic	119462986	RCV000003402; RCV000175324; RCV000081485;	N	MedGen:C0265221,OMIM:236670,SNOMED CT:111504002; MedGen:C3150415,OMIM:613155; MedGen:CN221809	9	134396738	134396738	NM_007171.3:c.1770G>C	NP_009102.3:p.Gln590His	NC_000009.11:g.134396738G>C	HGMD:CM061913,OMIM Allelic Variant:607423.0009	C3150415 613155 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; CN221809 not provided; C0265221 236670 Walker-Warburg congenital muscular dystrophy
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr)	10585	POMT1	Pathogenic	119462987	RCV000003406;	N	MedGen:C3150415,OMIM:613155	9	134397547	134397547	NM_007171.3:c.2005G>A	NP_009102.3:p.Ala669Thr	NC_000009.11:g.134397547G>A	OMIM Allelic Variant:607423.0013	C3150415 613155 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1