MSeqDR Mitochondrial Disease Portal


 
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Muscular Dystrophies (D009136)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)

       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)  LSDB  L: 00415;
..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)
..expandMYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
..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,ClinVar, CTD
Term ID:8333
Name:MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5
Definition:
Alternative IDs:DO:DOID:0110635
ParentIDs:MESH:D009136
TreeNumbers:C05.651.534.500/606612 |C10.668.491.175.500/606612 |C16.320.577/606612
Synonyms:MDC1C |MDDGB5 |MUSCULAR DYSTROPHY, CONGENITAL, 1C |MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 606612
MeSH: 606612
OMIM: 606612;
MSeqDR LSDB:  
Genes: FKRP;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002500Abnormality of the cerebral white matter
4 HP:0001771Achilles tendon contracture
5 HP:0008981Calf muscle hypertrophy
6 HP:0001272Cerebellar atrophy
7 HP:0002350Cerebellar cyst
8 HP:0003741Congenital muscular dystrophy
9 HP:0002194Delayed gross motor development
NAMDC:  Gross motor delay
10 HP:0003551Difficulty climbing stairs
11 HP:0002355Difficulty walking
12 HP:0003236Elevated serum creatine phosphokinase
13 HP:0003458EMG: myopathic abnormalities
14 HP:0010628Facial palsy
15 HP:0008872Feeding difficulties in infancy
16 HP:0002359Frequent falls
17 HP:0003324Generalized muscle weakness
18 HP:0003307Hyperlordosis
19 HP:0001249Intellectual disability
20 HP:0002808Kyphosis
21 HP:0000158Macroglossia
22 HP:0000252Microcephaly
23 HP:0003394Muscle cramps
24 HP:0003326Myalgia
25 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
26 HP:0001302PachygyriaHP:0040283
27 HP:0007126Proximal amyotrophy
28 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
29 HP:0002111Restrictive deficit on pulmonary function testing
30 HP:0002650Scoliosis
31 HP:0003724Shoulder girdle muscle atrophy
32 HP:0003547Shoulder girdle muscle weakness
33 HP:0003733Thigh hypertrophy
34 HP:0040083Toe walking
35 HP:0003828Variable expressivity
36 HP:0002119VentriculomegalyHP:0040283
37 HP:0002948Vertebral fusion
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_024301.5(FKRP):c.-34C>T79147FKRPBenignrs3201779RCV000082170|RCV001527241|RCV001527240|RCV001527274; NMedGen:CN169374|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725867447258674CT19:g.47258674C>TClinGen:CA285757CN169374 not specified;
NM_024301.5(FKRP):c.9C>T (p.Leu3=)79147FKRPLikely benignrs756295058RCV000886744|RCV001563826|RCV001563827|RCV001563825; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp194725871647258716CT19:g.47258716C>T-
NM_024301.5(FKRP):c.119G>A (p.Arg40His)79147FKRPUncertain significance-1RCV001563922|RCV001563920|RCV001563921; NMONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194725882647258826GA47258826-
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)79147FKRPUncertain significancers1555738085RCV000577932|RCV000578007|RCV000578092|RCV000578009; NMONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,H194725883547258835CG19:g.47258835C>GClinGen:CA406494717C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.192C>T (p.Pro64=)79147FKRPBenignrs111754012RCV000117037|RCV000227021|RCV000576519|RCV001272536|RCV001811960; NMedGen:CN169374|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,194725889947258899CT19:g.47258899C>TClinGen:CA288847C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.282C>T (p.Pro94=)79147FKRPConflicting interpretations of pathogenicity-1RCV001563828|RCV001563918|RCV001563919|RCV002072148; NMONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp194725898947258989CT47258989-
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)79147FKRPUncertain significancers758759348RCV000459145|RCV000765451|RCV000991999|RCV001272539; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp194725903547259035CT19:g.47259035C>TClinGen:CA9532143C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)79147FKRPUncertain significancers199714523RCV000464325|RCV000408156|RCV000710136|RCV000765452|RCV001275311; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,M194725916347259163CG19:g.47259163C>GClinGen:CA9532153CN169374 not specified;
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)79147FKRPLikely pathogenic-1RCV001815627; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899194725921047259210GA47259210-
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)79147FKRPPathogenic/Likely pathogenicrs543163491RCV000336106|RCV000763055|RCV000810074|RCV000984175; NMedGen:CN517202|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,O194725925247259252AGNC_000019.9:g.47259252A>GClinGen:CA9532164,UniProtKB:Q9H9S5#VAR_065058C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.585C>T (p.Asp195=)79147FKRPBenignrs75079578RCV000082179|RCV000576800|RCV001081711|RCV001727566; NMedGen:CN169374|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0000171,MedGen:C0265221,O194725929247259292CT19:g.47259292C>TClinGen:CA149250C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)79147FKRPUncertain significance-1RCV001733724|RCV002032740; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899194725935647259356CA47259356-
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)79147FKRPPathogenicrs28937902RCV000004446; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194725937047259370CA19:g.47259370C>AClinGen:CA116708,UniProtKB:Q9H9S5#VAR_018284,OMIM:606596.0008CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)79147FKRPConflicting interpretations of pathogenicityrs77138370RCV000117039|RCV000711666|RCV001086481|RCV001836732; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150194725952947259529CG19:g.47259529C>GClinGen:CA152821CN169374 not specified;
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)79147FKRPUncertain significance-1RCV001563923|RCV001563925|RCV001563924|RCV001882663; NMONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp194725956147259561AC47259561-
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)79147FKRPUncertain significancers762283381RCV000356554|RCV000469653|RCV000765454|RCV001273518; NMedGen:CN517202|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,O194725961147259611GA19:g.47259611G>AClinGen:CA9532208CN169374 not specified;
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)79147FKRPUncertain significancers28937901RCV000004445|RCV000675047; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515194725965347259653CA19:g.47259653C>AClinGen:CA116706,OMIM:606596.0007CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)79147FKRPUncertain significancers745882222RCV001196908; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194725966947259669CA19:g.47259669C>A-
NM_024301.5(FKRP):c.968G>A (p.Arg323His)79147FKRPUncertain significancers1349031936RCV000634072|RCV001171504|RCV000662004|RCV000662005; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha194725967547259675GA19:g.47259675G>AClinGen:CA406496378C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)79147FKRPUncertain significancers1322997651RCV000538732|RCV000765455|RCV001273520; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp194725972647259726AT19:g.47259726A>TClinGen:CA406496482C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1051G>C (p.Ala351Pro)79147FKRPUncertain significance-1RCV001769990; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194725975847259758GC47259758-
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)79147FKRPConflicting interpretations of pathogenicityrs143031195RCV000473789|RCV000657079|RCV001336093|RCV001838983; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,O194725978047259780CT19:g.47259780C>TClinGen:CA234007,UniProtKB:Q9H9S5#VAR_065062CN517202 not provided;
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)79147FKRPPathogenicrs28937904RCV000004448; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194725992047259920GT19:g.47259920G>TClinGen:CA116712,UniProtKB:Q9H9S5#VAR_022854,OMIM:606596.0010CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)79147FKRPUncertain significancers769568971RCV000634052|RCV000726824|RCV001275321|RCV001197776; NMONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194725997747259977AC19:g.47259977A>CClinGen:CA9532287CN169374 not specified;
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)79147FKRPPathogenic/Likely pathogenicrs104894681RCV000004441|RCV000360542|RCV000763056; N|MedGen:CN517202|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0009364,MedGen:C4284790,194726005047260050CT19:g.47260050C>TClinGen:CA116699,UniProtKB:Q9H9S5#VAR_018294,OMIM:606596.0003C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)79147FKRPPathogenicrs28937903RCV000004447|RCV000201040|RCV000532707|RCV000597675; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899|MedGen:CN517202194726007147260071CA19:g.47260071C>AClinGen:CA116710,UniProtKB:Q9H9S5#VAR_022855,OMIM:606596.0009C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser)79147FKRPUncertain significancers2054938604RCV001197701; NMONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428194726007347260073GA19:g.47260073G>A-
MSeqDR Portal