Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMuscular Dystrophies (D009136)
..Starting node
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)

       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:7535
Name:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009136
TreeNumbers:C05.651.534.500/608840 |C10.597.606.643/608840 |C10.668.491.175.500/608840 |C16.320.577/608840 |C23.888.592.604.646/608840 |F03.550.600/608840
Synonyms:MDC1D |MDDGB6 |MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED |MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
Slim Mappings:Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 608840
MeSH: 608840
OMIM: 608840;

Genes: LARGE;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0002518Abnormal periventricular white matter morphology
4 HP:0002269Abnormality of neuronal migration
5 HP:0001771Achilles tendon contracture
6 HP:0003487Babinski sign
7 HP:0001321Cerebellar hypoplasia
8 HP:0003741Congenital muscular dystrophy
9 HP:0000654Decreased light- and dark-adapted electroretinogram amplitude
10 HP:0002987Elbow flexion contracture
11 HP:0003236Elevated circulating creatine kinase concentration
12 HP:0003458EMG: myopathic abnormalities
13 HP:0010628Facial palsy
14 HP:0001290Generalized hypotonia
15 HP:0001263Global developmental delay
16 HP:0000666Horizontal nystagmus
17 HP:0002365Hypoplasia of the brainstem
18 HP:0001252Hypotonia
19 HP:0002187Intellectual disability, profound
20 HP:0009473Joint contracture of the hand
21 HP:0002395Lower limb hyperreflexia
22 HP:0000158Macroglossia
23 HP:0001270Motor delay
24 HP:0003560Muscular dystrophy
25 HP:0001302Pachygyria
26 HP:0003701Proximal muscle weakness
27 HP:0004322Short stature
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_004737.4(LARGE):c.1525G>A (p.Glu509Lys)9215LARGEPathogenic121908675RCV000006594; NMedGen:C1837229,OMIM:608840223370042033700420NM_004737.4:c.1525G>ANP_004728.1:p.Glu509LysNC_000022.10:g.33700420C>TOMIM Allelic Variant:603590.0001C1837229 608840 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6