MDDGB5
MCID: MSC035
MIFTS: 46

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 (MDDGB5)

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, 5

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 57 12 72 13 6
Mdc1c 57 12 72 54
Mddgb5 57 12 72
Muscular Dystrophy-Dystroglycanopathy Type B5 12 15
Muscular Dystrophy, Congenital, 1c 57 70
Muscular Dystrophy-Dystroglycanopathy Congenital with or Without Mental Retardation B5 72
Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29
Dystrophy, Muscular, Dystroglycanopathy , Type B5 39
Muscular Dystrophy, Congenital, Fkrp-Related 57
Fkrp-Related Congenital Muscular Dystrophy 12
Muscular Dystrophy, Congenital, 1c; Mdc1c 57
Muscular Dystrophy Congenital Type 1c 72
Congenital Muscular Dystrophy Type 1c 36
Congenital Muscular Dystrophy 1c 12
Muscular Dystrophy Fkrp-Related 72

Characteristics:

OMIM®:

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

Miscellaneous:
highly variable severity
variable age of onset (range 1-40 years)
some patients never gain ambulation or become wheelchair-bound


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

OMIM® : 57 MDDGB5 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Brockington et al., 2001). 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., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (606612) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 5, also known as mdc1c, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and limb-girdle muscular dystrophy, and has symptoms including myalgia, generalized muscle weakness and muscle cramp. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism. Affiliated tissues include brain, and related phenotypes are ventriculomegaly and pachygyria

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

KEGG : 36 Congenital muscular dystrophy type 1C (MDC1C) is a form of congenital muscular dystrophy with secondary laminin-2 (merosin) deficiency and abnormal glycosylation of alpha-dystroglycan. MDC1C is caused by mutations in the FKRP gene. Clinical manifestations include inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, and normal brain structure and function.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 30.0 POMT2 POMT1 FKTN FKRP
2 limb-girdle muscular dystrophy 29.9 POMT1 POMGNT1 LAMA2 FKTN FKRP
3 muscular dystrophy-dystroglycanopathy , type c, 5 28.7 POMT2 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
4 muscular dystrophy, congenital, lmna-related 28.4 POMT2 POMT1 POMGNT1 LARGE2 LAMA2 FKTN
5 autosomal recessive limb-girdle muscular dystrophy 27.6 POMT2 POMT1 POMK POMGNT1 LAMA2 FKTN
6 muscular dystrophy 27.1 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
7 walker-warburg syndrome 26.6 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
8 muscular dystrophy-dystroglycanopathy , type a, 4 26.3 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
9 congenital muscular dystrophy-dystroglycanopathy a7 10.2 FKTN FKRP
10 autosomal recessive limb-girdle muscular dystrophy type 2j 10.2 POMT1 FKRP
11 muscular dystrophy-dystroglycanopathy , type c, 7 10.2 FKTN FKRP
12 cardiomyopathy, dilated, 1x 10.1 FKTN DAG1
13 fukuyama type muscular dystrophy 10.1 FKTN FKRP
14 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN FKRP
15 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 FKRP DAG1
16 congenital muscular dystrophy-dystroglycanopathy a14 10.1 LAMA2 DAG1
17 strabismus 10.1
18 mechanical strabismus 10.1
19 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.1 LAMA2 DAG1
20 congenital muscular dystrophy with intellectual disability 10.0 POMT2 POMT1 FKRP
21 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 LAMA2 FKRP DAG1
22 congenital muscular dystrophy-dystroglycanopathy type a10 10.0 POMK LAMA2
23 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 LAMA2 FKRP DAG1
24 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 LAMA2 FKRP DAG1
25 epidermolysis bullosa simplex with mottled pigmentation 10.0 POMT2 POMT1
26 ablepharon-macrostomia syndrome 10.0 POMT1 POMGNT1 FKTN FKRP
27 muscular dystrophy, duchenne type 9.9 LAMA2 FKTN DAG1
28 congenital muscular dystrophy-dystroglycanopathy type a2 9.9 POMT2 POMT1 DPM3
29 rigid spine muscular dystrophy 1 9.9 LAMA2 FKTN FKRP DAG1
30 ullrich congenital muscular dystrophy 1 9.9 LAMA2 FKTN FKRP DAG1
31 epidermolysis bullosa simplex with muscular dystrophy 9.9
32 muscle hypertrophy 9.9
33 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
34 polymicrogyria 9.9
35 hypotonia 9.9
36 isolated elevated serum creatine phosphokinase levels 9.9 POMT1 LAMA2 FKRP DAG1
37 brazilian hemorrhagic fever 9.9 LARGE2 DAG1
38 nonaka myopathy 9.8 FKRP DAG1
39 autosomal recessive disease 9.8 FKTN FKRP B3GNT2
40 retinal lattice degeneration 9.8 POMT2 POMT1 FKTN DAG1
41 lassa fever 9.8 LARGE2 DAG1
42 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 POMT1 LAMA2 FKTN FKRP DAG1
43 congenital myasthenic syndrome 9.7 POMT1 LAMA2 FKTN FKRP DAG1
44 muscular dystrophy, becker type 9.7 LAMA2 FKTN FKRP DAG1 B3GNT2
45 peters-plus syndrome 9.6 POMT2 POMT1 POMGNT1 DAG1 B3GNT2
46 muscular dystrophy, congenital, 1b 9.6 POMK LAMA2 FKTN FKRP DAG1
47 congenital muscular dystrophy-dystroglycanopathy type a5 9.6 POMGNT2 FKRP EGFLAM DAG1 B3GNT2
48 congenital muscular dystrophy with cerebellar involvement 9.6 POMT2 POMT1 POMK POMGNT1 FKRP
49 autosomal recessive limb-girdle muscular dystrophy type 2l 9.5 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
50 cardiomyopathy, dilated, 1d 9.5 POMT2 POMT1 POMGNT1 LAMA2 FKRP DAG1

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 5

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 ventriculomegaly 31 occasional (7.5%) HP:0002119
2 pachygyria 31 occasional (7.5%) HP:0001302
3 intellectual disability 31 HP:0001249
4 scoliosis 31 HP:0002650
5 kyphosis 31 HP:0002808
6 facial palsy 31 HP:0010628
7 hyperlordosis 31 HP:0003307
8 macroglossia 31 HP:0000158
9 microcephaly 31 HP:0000252
10 neonatal hypotonia 31 HP:0001319
11 feeding difficulties in infancy 31 HP:0008872
12 elevated serum creatine kinase 31 HP:0003236
13 achilles tendon contracture 31 HP:0001771
14 emg: myopathic abnormalities 31 HP:0003458
15 toe walking 31 HP:0040083
16 myalgia 31 HP:0003326
17 vertebral fusion 31 HP:0002948
18 proximal amyotrophy 31 HP:0007126
19 cerebellar atrophy 31 HP:0001272
20 generalized muscle weakness 31 HP:0003324
21 calf muscle hypertrophy 31 HP:0008981
22 delayed gross motor development 31 HP:0002194
23 abnormality of the cerebral white matter 31 HP:0002500
24 restrictive ventilatory defect 31 HP:0002091
25 congenital muscular dystrophy 31 HP:0003741
26 proximal muscle weakness 31 HP:0003701
27 frequent falls 31 HP:0002359
28 difficulty walking 31 HP:0002355
29 shoulder girdle muscle atrophy 31 HP:0003724
30 muscle spasm 31 HP:0003394
31 difficulty climbing stairs 31 HP:0003551
32 shoulder girdle muscle weakness 31 HP:0003547
33 cerebellar cyst 31 HP:0002350
34 thigh hypertrophy 31 HP:0003733

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
lordosis
spinal fusion

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Head:
microcephaly (less common)

Head And Neck Face:
facial weakness

Muscle Soft Tissue:
neonatal hypotonia
myalgia
generalized muscle weakness
proximal muscle weakness
frequent falls
more
Neurologic Central Nervous System:
cerebellar atrophy
mental retardation
cerebellar cysts
pachygyria (rare)
some patients have neurologic involvement
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
achilles tendon contractures

Clinical features from OMIM®:

606612 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:


myalgia; generalized muscle weakness; muscle cramp; facial paresis

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 B3GNT2 DAG1 DPM3 FKRP FKTN LAMA2
2 cellular MP:0005384 9.81 B3GNT2 DAG1 FKRP FKTN LAMA2 POMGNT1
3 muscle MP:0005369 9.43 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
4 nervous system MP:0003631 9.36 B3GNT2 DAG1 EGFLAM FKRP FKTN LAMA2

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy Without Mental Retardation, Type B5 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

40
Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

(show all 26)
# Title Authors PMID Year
1
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 54 6 57
14652796 2004
2
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 57 6 54
12654965 2003
3
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 57 6
17336067 2007
4
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 57 6
11592034 2001
5
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci. 57 6
11053680 2000
6
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing. 6
31671740 2019
7
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G. 6
31041397 2019
8
Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases. 6
29065428 2017
9
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 57
16476814 2006
10
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 57
12666124 2003
11
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? 6
11071142 2000
12
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. 61
32864802 2020
13
Overexpression of Mutant FKRP Restores Functional Glycosylation and Improves Dystrophic Phenotype in FKRP Mutant Mice. 61
29858056 2018
14
Zebrafish models for human FKRP muscular dystrophies. 54
19955119 2010
15
[Congenital muscular dystrophy and alpha-dystroglycanopathy]. 54
18939472 2008
16
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 54
18671187 2008
17
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. 54
16288869 2005
18
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. 54
16055117 2005
19
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 54
15574464 2005
20
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 54
14742276 2004
21
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. 54
14523375 2004
22
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. 54
12966029 2003
23
Glycosylation defects in inherited muscle disease. 54
12678490 2003
24
Functional requirements for fukutin-related protein in the Golgi apparatus. 54
12471058 2002
25
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. 54
11801394 2002
26
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. 54
11741828 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKRP NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) SNV Pathogenic 4218 rs104894679 GRCh37: 19:47259633-47259633
GRCh38: 19:46756376-46756376
2 FKRP NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) SNV Pathogenic 4219 rs104894680 GRCh37: 19:47259861-47259861
GRCh38: 19:46756604-46756604
3 FKRP NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) SNV Pathogenic 4220 rs104894681 GRCh37: 19:47260050-47260050
GRCh38: 19:46756793-46756793
4 FKRP NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) SNV Pathogenic 4224 rs28937901 GRCh37: 19:47259653-47259653
GRCh38: 19:46756396-46756396
5 FKRP NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) SNV Pathogenic 4225 rs28937902 GRCh37: 19:47259370-47259370
GRCh38: 19:46756113-46756113
6 FKRP NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) SNV Pathogenic 4227 rs28937904 GRCh37: 19:47259920-47259920
GRCh38: 19:46756663-46756663
7 FKRP NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) SNV Pathogenic 4226 rs28937903 GRCh37: 19:47260071-47260071
GRCh38: 19:46756814-46756814
8 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) SNV Pathogenic 4235 rs121908110 GRCh37: 19:47260094-47260094
GRCh38: 19:46756837-46756837
9 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
10 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
11 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
12 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) SNV Pathogenic 4235 rs121908110 GRCh37: 19:47260094-47260094
GRCh38: 19:46756837-46756837
13 FKRP NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) SNV Likely pathogenic 282247 rs543163491 GRCh37: 19:47259252-47259252
GRCh38: 19:46755995-46755995
14 FKRP NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) SNV Likely pathogenic 4220 rs104894681 GRCh37: 19:47260050-47260050
GRCh38: 19:46756793-46756793
15 FKRP NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) SNV Uncertain significance 408718 rs758759348 GRCh37: 19:47259035-47259035
GRCh38: 19:46755778-46755778
16 FKRP NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) SNV Uncertain significance 289565 rs199714523 GRCh37: 19:47259163-47259163
GRCh38: 19:46755906-46755906
17 FKRP NM_024301.5(FKRP):c.898G>A (p.Val300Met) SNV Uncertain significance 241460 rs563033008 GRCh37: 19:47259605-47259605
GRCh38: 19:46756348-46756348
18 FKRP NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) SNV Uncertain significance 289722 rs762283381 GRCh37: 19:47259611-47259611
GRCh38: 19:46756354-46756354
19 FKRP NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) SNV Uncertain significance 459226 rs1322997651 GRCh37: 19:47259726-47259726
GRCh38: 19:46756469-46756469
20 FKRP NM_024301.5(FKRP):c.968G>A (p.Arg323His) SNV Uncertain significance 528824 rs1349031936 GRCh37: 19:47259675-47259675
GRCh38: 19:46756418-46756418
21 FKRP NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) SNV Uncertain significance 930906 GRCh37: 19:47259669-47259669
GRCh38: 19:46756412-46756412
22 FKRP NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser) SNV Uncertain significance 931281 GRCh37: 19:47260073-47260073
GRCh38: 19:46756816-46756816
23 FKRP NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) SNV Uncertain significance 488159 rs1555738085 GRCh37: 19:47258835-47258835
GRCh38: 19:46755578-46755578
24 FKRP NM_024301.5(FKRP):c.968G>A (p.Arg323His) SNV Uncertain significance 528824 rs1349031936 GRCh37: 19:47259675-47259675
GRCh38: 19:46756418-46756418
25 FKRP NM_024301.5(FKRP):c.1270A>C (p.Asn424His) SNV Uncertain significance 449685 rs769568971 GRCh37: 19:47259977-47259977
GRCh38: 19:46756720-46756720
26 FKRP NM_024301.5(FKRP):c.585C>T (p.Asp195=) SNV Benign 96112 rs75079578 GRCh37: 19:47259292-47259292
GRCh38: 19:46756035-46756035
27 FKRP NM_024301.5(FKRP):c.192C>T (p.Pro64=) SNV Benign 129056 rs111754012 GRCh37: 19:47258899-47258899
GRCh38: 19:46755642-46755642

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 FKRP p.Pro217Thr VAR_018283
2 FKRP p.Ser221Arg VAR_018284 rs28937902
3 FKRP p.Tyr309Cys VAR_018286 rs104894679
4 FKRP p.Pro315Thr VAR_018288
5 FKRP p.Pro316Arg VAR_018289 rs752582904
6 FKRP p.Tyr328Ser VAR_018290
7 FKRP p.Arg339His VAR_018292
8 FKRP p.Asp401Asn VAR_018293 rs155573911
9 FKRP p.Pro448Leu VAR_018294 rs104894681
10 FKRP p.Tyr465Ser VAR_018295 rs105752077
11 FKRP p.Val405Leu VAR_022854 rs28937904
12 FKRP p.Ala455Asp VAR_022855 rs28937903
13 FKRP p.Asn463Asp VAR_065063 rs121908110

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 5.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to KEGG:

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

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
2
Show member pathways
13.23 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
3
Show member pathways
11.82 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
4 10.6 LAMA2 DAG1
5 10.59 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.1 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
2 endoplasmic reticulum membrane GO:0005789 9.83 POMT2 POMT1 POMK POMGNT2 DPM3
3 Golgi membrane GO:0000139 9.55 POMGNT1 LARGE2 FKTN FKRP B3GNT2
4 sarcolemma GO:0042383 9.54 LAMA2 FKRP DAG1
5 endoplasmic reticulum GO:0005783 9.5 POMT2 POMT1 POMK POMGNT2 FKTN FKRP
6 basement membrane GO:0005604 9.43 LAMA2 EGFLAM DAG1
7 synaptic cleft GO:0043083 9.4 LAMA2 EGFLAM
8 integral component of membrane GO:0016021 9.36 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked mannosylation GO:0035269 9.7 POMT2 POMT1 POMGNT2 LARGE2 FKTN FKRP
2 extracellular matrix organization GO:0030198 9.62 POMT1 LAMA2 EGFLAM DAG1
3 axon guidance GO:0007411 9.61 LAMA2 DAG1 B3GNT2
4 protein O-linked glycosylation GO:0006493 9.5 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
5 tissue development GO:0009888 9.46 LAMA2 EGFLAM
6 mannosylation GO:0097502 9.4 POMT2 POMT1
7 Schwann cell differentiation GO:0014037 9.37 LAMA2 DAG1
8 protein glycosylation GO:0006486 9.28 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2 FKTN
9 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.61 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE2
2 mannosyltransferase activity GO:0000030 9.37 POMT2 POMT1
3 acetylglucosaminyltransferase activity GO:0008375 9.33 POMGNT2 POMGNT1 B3GNT2
4 dystroglycan binding GO:0002162 9.32 FKRP DAG1
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT2 POMT1
6 transferase activity, transferring glycosyl groups GO:0016757 9.1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE2 B3GNT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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
Content
Loading form....