Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMuscular Dystrophies (D009136)
..Starting node
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)

       Child Nodes:



 Sister Nodes: 
..expandAlpha-B Crystallinopathy with Cataract (C563849)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandBassoe syndrome (C537661)
..expandBethlem myopathy (C535436)
..expandDistal Myopathies (D049310) Child11
..expandFilaminopathy, autosomal dominant (C537932)
..expandGlycogen Storage Disease Type VII (D006014)
..expandMuscular Dystrophies, Limb-Girdle (D049288) Child33
..expandMuscular dystrophy congenital, merosin negative (C537384)
..expandMuscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..expandMuscular Dystrophy, Barnes Type (C563558)
..expandMuscular Dystrophy, Cardiac Type (C563247)
..expandMuscular Dystrophy, Congenital, 1B (C565748)
..expandMuscular Dystrophy, Congenital, 1C (C564691)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandMuscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..expandMuscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..expandMuscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..expandMuscular Dystrophy, Congenital, Lmna-Related (C567708)
..expandMuscular Dystrophy, Congenital, Megaconial Type (C566527)
..expandMuscular Dystrophy, Congenital, Merosin-Positive (C563716)
..expandMuscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..expandMuscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..expandMuscular Dystrophy, Congenital, Type 1D (C563844)
..expandMuscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..expandMuscular Dystrophy, Congenital, with Rapid Progression (C564983)
..expandMuscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Facioscapulohumeral (D020391) Child4
..expandMuscular Dystrophy, Mabry Type (C564096)
..expandMuscular Dystrophy, Oculopharyngeal (D039141) Child1
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMuscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandMyopathy, Myofibrillar, Desmin-Related (C563319)
..expandMyopathy, Myofibrillar, Zasp-Related (C563718)
..expandMyotonic Dystrophy (D009223) Child1
..expandOculopharyngodistal Myopathy (C563508)
..expandRigid spine syndrome (C535683)
..expandScleroatonic muscular dystrophy (C537521)
..expandVacuolar Neuromyopathy (C566617)
..expandWalker-Warburg Syndrome (D058494) Child7
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7534
Name:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009136
TreeNumbers:C05.651.534.500/613151 |C10.597.606.643/613151 |C10.668.491.175.500/613151 |C16.320.577/613151 |C23.888.592.604.646/613151 |F03.550.600/613151
Synonyms:MDDGB3 |MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED
Slim Mappings:Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 613151
MeSH: 613151
OMIM: 613151;

Genes: POMGNT1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002350Cerebellar cyst
4 HP:0001321Cerebellar hypoplasia
5 HP:0003741Congenital muscular dystrophy
6 HP:0003236Elevated circulating creatine kinase concentration
7 HP:0012110Hypoplasia of the pons
8 HP:0001249Intellectual disability
9 HP:0000252Microcephaly
10 HP:0001270Motor delay
11 HP:0003560Muscular dystrophy
12 HP:0000545Myopia
13 HP:0000648Optic atrophy
14 HP:0000486Strabismus
15 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001243766.1(POMGNT1):c.1814G>C (p.Arg605Pro)-1-Pathogenic267606962RCV000004205; NMedGen:C3150412,OMIM:61315114665521146655211NM_001243766.1:c.1814G>CNP_001230695.1:p.Arg605ProNC_000001.10:g.46655211C>G,NC_000001.10:g.46655211C>TOMIM Allelic Variant:606822.0014C3150412 613151 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr)-1-Pathogenic267606960RCV000004207; NMedGen:C3150412,OMIM:61315114665784046657840NM_001243766.1:c.1469G>ANP_001230695.1:p.Cys490TyrNC_000001.10:g.46657840C>TOMIM Allelic Variant:606822.0016C3150412 613151 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
NM_017739.3(POMGNT1):c.652+1G>A-1-Likely pathogenic;Pathogenic386834035RCV000004206; RCV000050018; NMedGen:C0457133,OMIM:253280,ORPHA:588,SNOMED CT:277950001; MedGen:C3150412,OMIM:61315114666051546660515NM_017739.3:c.652+1G>ANC_000001.10:g.46660515C>TOMIM Allelic Variant:606822.0015C3150412 613151 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; C0457133 253280 Muscle eye brain disease; C0432289 277950 Winchester syndrome