MDDGB6
MCID: MSC042
MIFTS: 48

Muscular Dystrophy-Dystroglycanopathy , Type B, 6 (MDDGB6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 6 57 12 72 13
Congenital Muscular Dystrophy Type 1d 12 72 36
Mddgb6 57 12 72
Mdc1d 57 12 72
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6 29 6
Muscular Dystrophy-Dystroglycanopathy Type B6 12 15
Muscular Dystrophy, Congenital, Type 1d 57 70
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B6 72
Dystrophy, Muscular, Dystroglycanopathy , Type B6 39
Muscular Dystrophy, Congenital, Type 1d; Mdc1d 57
Muscular Dystrophy, Congenital, Large-Related 57
Congenital Muscular Dystrophy Large-Related 12
Muscular Dystrophy Large-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset within first 6 months of life
three unrelated families have been reported (as of june 2011)


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

OMIM® : 57 MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (608840) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 6, also known as congenital muscular dystrophy type 1d, is related to congenital muscular dystrophy due to dystroglycanopathy and ablepharon-macrostomia syndrome. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 6 is LARGE1 (LARGE Xylosyl- And Glucuronyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism. Affiliated tissues include skeletal muscle, tongue and brain, and related phenotypes are facial palsy and macroglossia

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.

KEGG : 36 Congenital muscular dystrophy type 1D (MDC1D) is a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. MDC1D is caused by mutations in LARGE gene.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6: A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha- dystroglycan.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy due to dystroglycanopathy 29.9 FKRP CRPPA
2 ablepharon-macrostomia syndrome 29.5 POMT1 POMGNT1 LARGE1 FKTN FKRP
3 muscle eye brain disease 28.8 POMT2 POMT1 POMGNT1 LARGE1 FKTN FKRP
4 muscular dystrophy, congenital, lmna-related 28.3 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 FKTN
5 muscular dystrophy-dystroglycanopathy , type b, 5 27.3 POMT2 POMT1 POMGNT1 LARGE2 FKTN FKRP
6 muscular dystrophy 26.7 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
7 walker-warburg syndrome 26.3 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
8 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 POMT1 FKRP
9 cardiomyopathy, dilated, 1x 10.1 FKTN DAG1
10 fukuyama type muscular dystrophy 10.1 FKTN FKRP
11 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1 FKRP DAG1
12 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 FKRP DAG1
13 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 FKRP DAG1
14 lassa fever 10.0 LARGE2 DAG1
15 epidermolysis bullosa simplex with mottled pigmentation 10.0 POMT2 POMT1
16 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 FKRP DAG1
17 rigid spine muscular dystrophy 1 10.0 FKTN FKRP DAG1
18 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.0 DAG1 CRPPA
19 ullrich congenital muscular dystrophy 1 10.0 FKTN FKRP DAG1
20 isolated elevated serum creatine phosphokinase levels 10.0 POMT1 FKRP DAG1
21 limb-girdle muscular dystrophy 9.9 POMT1 POMGNT1 FKTN FKRP
22 congenital muscular dystrophy-dystroglycanopathy a7 9.9 FKTN FKRP CRPPA
23 qualitative or quantitative defects of alpha-dystroglycan 9.9
24 autosomal recessive disease 9.9 FKTN FKRP B3GNT2
25 brazilian hemorrhagic fever 9.8 LARGE2 DAG1 CRPPA
26 muscular dystrophy, becker type 9.8 FKTN FKRP DAG1 B3GNT2
27 congenital muscular dystrophy with intellectual disability 9.8 POMT2 POMT1 LARGE1 FKRP
28 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 POMT1 FKTN FKRP DAG1
29 congenital muscular dystrophy with cerebellar involvement 9.8 POMT2 POMT1 POMGNT1 FKRP
30 congenital muscular dystrophy without intellectual disability 9.8 POMT1 FKTN FKRP CRPPA
31 nonaka myopathy 9.8 FKRP DAG1
32 congenital myasthenic syndrome 9.8 POMT1 FKTN FKRP DAG1
33 retinal lattice degeneration 9.8 POMT2 POMT1 FKTN DAG1
34 muscular dystrophy, congenital, 1b 9.7 RXYLT1 FKTN FKRP DAG1
35 hydrocephalus 9.7 POMT2 POMT1 POMGNT1
36 congenital muscular dystrophy-dystroglycanopathy type a2 9.7 POMT2 POMT1 DPM3
37 muscular dystrophy-dystroglycanopathy , type c, 7 9.7 RXYLT1 FKTN FKRP CRPPA
38 cardiomyopathy, dilated, 1d 9.6 POMT2 POMT1 POMGNT1 FKRP DAG1
39 muscular disease 9.5 POMT1 POMGNT1 FKTN FKRP DAG1 B3GNT2
40 peters-plus syndrome 9.5 POMT2 POMT1 POMGNT1 LARGE1 DAG1 B3GNT2
41 congenital nervous system abnormality 9.5 POMT2 POMT1 POMGNT1 FKTN DAG1 B3GNT2
42 autosomal recessive limb-girdle muscular dystrophy type 2l 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
43 muscular dystrophy, congenital merosin-deficient, 1a 9.4 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
44 bethlem myopathy 1 9.4 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
45 congenital muscular dystrophy-dystroglycanopathy type a5 9.4 RXYLT1 FKRP EGFLAM DAG1 B3GNT2
46 myopathy 9.4 POMT1 FKTN FKRP DPM3 DAG1
47 muscular dystrophy-dystroglycanopathy , type a, 1 9.4 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
48 congenital disorder of glycosylation, type in 9.3 POMT2 POMT1 DPM3 DAG1 B3GNT2
49 muscle tissue disease 9.3 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
50 congenital muscular dystrophy-dystroglycanopathy type a3 9.3 RXYLT1 POMT2 POMT1 POMGNT1 DPM3

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 6

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 macroglossia 31 HP:0000158
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 elevated serum creatine kinase 31 HP:0003236
6 achilles tendon contracture 31 HP:0001771
7 elbow flexion contracture 31 HP:0002987
8 emg: myopathic abnormalities 31 HP:0003458
9 motor delay 31 HP:0001270
10 cerebellar hypoplasia 31 HP:0001321
11 abnormality of neuronal migration 31 HP:0002269
12 pachygyria 31 HP:0001302
13 babinski sign 31 HP:0003487
14 muscular dystrophy 31 HP:0003560
15 intellectual disability, profound 31 HP:0002187
16 generalized hypotonia 31 HP:0001290
17 abnormality of the periventricular white matter 31 HP:0002518
18 congenital muscular dystrophy 31 HP:0003741
19 proximal muscle weakness 31 HP:0003701
20 horizontal nystagmus 31 HP:0000666
21 joint contracture of the hand 31 HP:0009473
22 hypoplasia of the brainstem 31 HP:0002365
23 lower limb hyperreflexia 31 HP:0002395
24 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
25 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia
delayed motor development
myopathic changes seen on emg
muscle hypertrophy
lower limbs more affected than upper limbs
more
Head And Neck Eyes:
nystagmus, horizontal
decreased electroretinogram response

Skeletal Hands:
flexed fingers

Skeletal Limbs:
elbow contractures, mild
achilles tendon contractures, mild

Neurologic Central Nervous System:
cerebellar hypoplasia
hypoplastic brainstem
periventricular white matter changes
abnormal neuronal migration
developmental delay, global
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
facial weakness, mild

Head And Neck Mouth:
tongue hypertrophy

Clinical features from OMIM®:

608840 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 B3GNT2 DAG1 DPM3 FKRP FKTN LARGE1
2 mortality/aging MP:0010768 9.96 CRPPA DAG1 DPM3 FKRP FKTN LARGE1
3 nervous system MP:0003631 9.65 B3GNT2 CRPPA DAG1 EGFLAM FKRP FKTN
4 muscle MP:0005369 9.63 DAG1 FKRP FKTN LARGE1 POMGNT1 POMT1
5 vision/eye MP:0005391 9.17 DAG1 EGFLAM FKRP LARGE1 LARGE2 POMGNT1

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B6 29 LARGE1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

40
Skeletal Muscle, Tongue, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

(show all 15)
# Title Authors PMID Year
1
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. 6 57 61
21248746 2011
2
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. 61 6 57
12966029 2003
3
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6 57
19067344 2008
4
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. 61 6
15661757 2005
5
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
6
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 57
19299310 2009
7
Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. 61
25661440 2015
8
Non-redundant function of dystroglycan and β1 integrins in radial sorting of axons. 61
21862561 2011
9
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. 61
19547838 2009
10
[Congenital muscular dystrophy and alpha-dystroglycanopathy]. 61
18939472 2008
11
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. 61
15958417 2005
12
A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy. 61
15833424 2005
13
LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. 61
15752776 2005
14
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. 61
15184894 2004
15
The role of defective glycosylation in congenital muscular dystrophy. 61
15229394 2004

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

6 (show top 50) (show all 237)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LARGE1 NC_000022.10:g.(?_34022208)_(34157483_?)del Deletion Pathogenic 584360 GRCh37: 22:34022208-34157483
GRCh38:
2 LARGE1 NC_000022.11:g.(?_33761351)_(33761496_?)del Deletion Pathogenic 583522 GRCh37: 22:34157338-34157483
GRCh38: 22:33761351-33761496
3 LARGE1 NC_000022.11:g.(?_33604425)_(33604568_?)del Deletion Pathogenic 650725 GRCh37: 22:34000411-34000554
GRCh38: 22:33604425-33604568
4 LARGE1 NC_000022.11:g.(?_33761361)_(33761486_?)del Deletion Pathogenic 657377 GRCh37: 22:34157348-34157473
GRCh38: 22:33761361-33761486
5 LARGE1 GRCh37/hg19 22q12.3(chr22:34152899-34236578) copy number loss Pathogenic 915997 GRCh37: 22:34152899-34236578
GRCh38:
6 LARGE1 NM_004737.6(LARGE1):c.1525G>A (p.Glu509Lys) SNV Pathogenic 6216 rs121908675 GRCh37: 22:33700420-33700420
GRCh38: 22:33304434-33304434
7 LARGE1 LARGE1, 42.9-KB INS/4.1-KB DEL Indel Pathogenic 30365 GRCh37:
GRCh38:
8 LARGE1 LARGE1, 667FS Variation Pathogenic 6222 GRCh37:
GRCh38:
9 LARGE1 LARGE1, 1-BP INS, 1999T Insertion Pathogenic 6217 GRCh37:
GRCh38:
10 LARGE1 NM_133642.5(LARGE1):c.1699del (p.Leu567fs) Deletion Pathogenic 936917 GRCh37: 22:33700246-33700246
GRCh38: 22:33304260-33304260
11 LARGE1 NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter) SNV Pathogenic 965408 GRCh37: 22:34046427-34046427
GRCh38: 22:33650441-33650441
12 LARGE1 NM_004737.6(LARGE1):c.99C>T (p.Ser33=) SNV Conflicting interpretations of pathogenicity 704457 rs377353667 GRCh37: 22:34157365-34157365
GRCh38: 22:33761378-33761378
13 LARGE1 NM_004737.6(LARGE1):c.1599C>T (p.Ile533=) SNV Conflicting interpretations of pathogenicity 211369 rs12627793 GRCh37: 22:33700346-33700346
GRCh38: 22:33304360-33304360
14 LARGE1 NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) SNV Conflicting interpretations of pathogenicity 289726 rs144216539 GRCh37: 22:33777944-33777944
GRCh38: 22:33381958-33381958
15 LARGE1 NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) SNV Conflicting interpretations of pathogenicity 167250 rs74550830 GRCh37: 22:33679277-33679277
GRCh38: 22:33283291-33283291
16 LARGE1 NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) SNV Conflicting interpretations of pathogenicity 95167 rs113253213 GRCh37: 22:33700301-33700301
GRCh38: 22:33304315-33304315
17 LARGE1 NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) SNV Conflicting interpretations of pathogenicity 194517 rs141089495 GRCh37: 22:33673157-33673157
GRCh38: 22:33277171-33277171
18 LARGE1 NM_004737.6(LARGE1):c.584G>A (p.Arg195His) SNV Conflicting interpretations of pathogenicity 533121 rs147597912 GRCh37: 22:34000452-34000452
GRCh38: 22:33604466-33604466
19 LARGE1 NM_004737.6(LARGE1):c.940C>G (p.Gln314Glu) SNV Uncertain significance 533115 rs559892854 GRCh37: 22:33780243-33780243
GRCh38: 22:33384257-33384257
20 LARGE1 NM_004737.6(LARGE1):c.478G>A (p.Val160Ile) SNV Uncertain significance 533116 rs775539988 GRCh37: 22:34022241-34022241
GRCh38: 22:33626257-33626257
21 LARGE1 NM_004737.6(LARGE1):c.1225G>A (p.Gly409Ser) SNV Uncertain significance 533117 rs1555898776 GRCh37: 22:33733694-33733694
GRCh38: 22:33337708-33337708
22 LARGE1 NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro) SNV Uncertain significance 842500 GRCh37: 22:33670531-33670531
GRCh38: 22:33274545-33274545
23 LARGE1 NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup) Duplication Uncertain significance 851056 GRCh37: 22:34046501-34046502
GRCh38: 22:33650515-33650516
24 LARGE1 NM_133642.5(LARGE1):c.551C>T (p.Thr184Met) SNV Uncertain significance 852472 GRCh37: 22:34000485-34000485
GRCh38: 22:33604499-33604499
25 LARGE1 NM_133642.5(LARGE1):c.569T>A (p.Met190Lys) SNV Uncertain significance 860660 GRCh37: 22:34000467-34000467
GRCh38: 22:33604481-33604481
26 LARGE1 NM_133642.5(LARGE1):c.-202C>A SNV Uncertain significance 899426 GRCh37: 22:34316102-34316102
GRCh38: 22:33920114-33920114
27 LARGE1 NM_133642.5(LARGE1):c.-527C>T SNV Uncertain significance 899475 GRCh37: 22:34316427-34316427
GRCh38: 22:33920439-33920439
28 LARGE1 NM_133642.5(LARGE1):c.*995T>C SNV Uncertain significance 900197 GRCh37: 22:33669418-33669418
GRCh38: 22:33273432-33273432
29 LARGE1 NM_133642.5(LARGE1):c.*969G>A SNV Uncertain significance 900198 GRCh37: 22:33669444-33669444
GRCh38: 22:33273458-33273458
30 LARGE1 NM_133642.5(LARGE1):c.1005+15T>G SNV Uncertain significance 900384 GRCh37: 22:33780163-33780163
GRCh38: 22:33384177-33384177
31 LARGE1 NM_004737.6(LARGE1):c.909T>G (p.Leu303=) SNV Uncertain significance 287758 rs563144239 GRCh37: 22:33780274-33780274
GRCh38: 22:33384288-33384288
32 LARGE1 NM_133642.5(LARGE1):c.492-6C>G SNV Uncertain significance 900444 GRCh37: 22:34000550-34000550
GRCh38: 22:33604564-33604564
33 LARGE1 NM_133642.5(LARGE1):c.*186C>T SNV Uncertain significance 901423 GRCh37: 22:33670227-33670227
GRCh38: 22:33274241-33274241
34 LARGE1 NM_133642.5(LARGE1):c.*155C>T SNV Uncertain significance 901424 GRCh37: 22:33670258-33670258
GRCh38: 22:33274272-33274272
35 LARGE1 NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) SNV Uncertain significance 901481 GRCh37: 22:33700345-33700345
GRCh38: 22:33304359-33304359
36 LARGE1 NM_133642.5(LARGE1):c.*699G>A SNV Uncertain significance 901908 GRCh37: 22:33669714-33669714
GRCh38: 22:33273728-33273728
37 LARGE1 NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) SNV Uncertain significance 901972 GRCh37: 22:33670472-33670472
GRCh38: 22:33274486-33274486
38 LARGE1 NM_133642.5(LARGE1):c.2073+12G>A SNV Uncertain significance 901973 GRCh37: 22:33673034-33673034
GRCh38: 22:33277048-33277048
39 LARGE1 NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) SNV Uncertain significance 902051 GRCh37: 22:33712096-33712096
GRCh38: 22:33316110-33316110
40 LARGE1 NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) SNV Uncertain significance 902052 GRCh37: 22:33712133-33712133
GRCh38: 22:33316147-33316147
41 LARGE1 NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) SNV Uncertain significance 902108 GRCh37: 22:34022240-34022240
GRCh38: 22:33626256-33626256
42 LARGE1 NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) SNV Uncertain significance 902109 GRCh37: 22:34022259-34022259
GRCh38: 22:33626275-33626275
43 LARGE1 NM_133642.5(LARGE1):c.-47C>T SNV Uncertain significance 902165 GRCh37: 22:34157510-34157510
GRCh38: 22:33761523-33761523
44 LARGE1 NM_133642.5(LARGE1):c.-377C>G SNV Uncertain significance 902215 GRCh37: 22:34316277-34316277
GRCh38: 22:33920289-33920289
45 LARGE1 NM_133642.5(LARGE1):c.*1229G>A SNV Uncertain significance 902760 GRCh37: 22:33669184-33669184
GRCh38: 22:33273198-33273198
46 LARGE1 NM_133642.5(LARGE1):c.*639T>G SNV Uncertain significance 902818 GRCh37: 22:33669774-33669774
GRCh38: 22:33273788-33273788
47 LARGE1 NM_133642.5(LARGE1):c.*566G>A SNV Uncertain significance 902819 GRCh37: 22:33669847-33669847
GRCh38: 22:33273861-33273861
48 LARGE1 NM_133642.5(LARGE1):c.2070G>A (p.Val690=) SNV Uncertain significance 902872 GRCh37: 22:33673049-33673049
GRCh38: 22:33277063-33277063
49 LARGE1 NM_133642.5(LARGE1):c.230G>A (p.Arg77His) SNV Uncertain significance 902995 GRCh37: 22:34046531-34046531
GRCh38: 22:33650545-33650545
50 LARGE1 NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) SNV Uncertain significance 902997 GRCh37: 22:34046541-34046541
GRCh38: 22:33650555-33650555

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 6:

72
# Symbol AA change Variation ID SNP ID
1 LARGE1 p.Glu509Lys VAR_019811 rs121908675

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 6.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to KEGG:

36
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
2
Show member pathways
13.28 POMT2 POMT1 POMGNT1 LARGE2 LARGE1 DPM3
3
Show member pathways
11.76 POMT2 POMT1 POMGNT1 LARGE2 LARGE1 DAG1
4 10.64 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
2 integral component of membrane GO:0016021 9.9 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
3 Golgi apparatus GO:0005794 9.5 RXYLT1 POMGNT1 LARGE2 LARGE1 FKTN FKRP
4 integral component of Golgi membrane GO:0030173 9.43 POMGNT1 LARGE1 FKTN
5 Golgi membrane GO:0000139 9.17 RXYLT1 POMGNT1 LARGE2 LARGE1 FKTN FKRP

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.65 POMT1 EGFLAM DAG1
2 axon guidance GO:0007411 9.63 DAG1 CRPPA B3GNT2
3 protein O-linked glycosylation GO:0006493 9.63 POMT2 POMT1 POMGNT1 LARGE2 LARGE1 FKTN
4 protein O-linked mannosylation GO:0035269 9.61 RXYLT1 POMT2 POMT1 LARGE2 LARGE1 FKTN
5 skeletal muscle tissue regeneration GO:0043403 9.43 LARGE1 DAG1
6 muscle cell cellular homeostasis GO:0046716 9.4 LARGE2 LARGE1
7 mannosylation GO:0097502 9.37 POMT2 POMT1
8 protein glycosylation GO:0006486 9.36 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
9 glycoprotein biosynthetic process GO:0009101 9.32 LARGE1 FKRP
10 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 9.5 POMGNT1 LARGE2 LARGE1
2 glucuronosyltransferase activity GO:0015020 9.48 LARGE2 LARGE1
3 mannosyltransferase activity GO:0000030 9.46 POMT2 POMT1
4 dystroglycan binding GO:0002162 9.43 FKRP DAG1
5 acetylglucosaminyltransferase activity GO:0008375 9.43 POMGNT1 LARGE1 B3GNT2
6 transferase activity, transferring glycosyl groups GO:0016757 9.43 POMT2 POMT1 POMGNT1 LARGE2 LARGE1 B3GNT2
7 UDP-xylosyltransferase activity GO:0035252 9.4 LARGE2 LARGE1
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.37 POMT2 POMT1
9 transferase activity GO:0016740 9.32 RXYLT1 POMT2 POMT1 POMGNT1 LARGE2 LARGE1
10 xylosyltransferase activity GO:0042285 9.16 LARGE2 LARGE1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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