MDDGA1
MCID: MSC047
MIFTS: 55

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 (MDDGA1)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 1 57 72 29 13 6
Hard Syndrome 57 72 6
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 57 72
Cod-Md Syndrome 57 72
Mddga1 57 72
Muscular Dystrophy Congenital Associated with Calf Hypertrophy Microcephaly and Severe Mental Retardation 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1 72
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related 57
Muscular Dystrophy Congenital Plus Mental Retardation 72
Hydrocephalus, Agyria, and Retinal Dysplasia 57
Walker-Warburg Congenital Muscular Dystrophy 70
Hydrocephalus-Agyria-Retinal Dysplasia 72
Muscle-Eye-Brain Disease Pomt1-Related 72
Walker-Warburg Syndrome Pomt1-Related 72
Muscle Eye Brain Disease 70
Muscle-Eye-Brain Disease 72
Cerebroocular Dysgenesis 72
Walker-Warburg Syndrome 72
Hard +/- E Syndrome 72
Warburg Syndrome 72
Wws 72
Meb 72
Cod 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
genetic heterogeneity
onset prenatally or at birth
severe disorder
majority of wws patients die within the first year of life
patients with meb have less severe features and longer survival
patients with meb may acquire ability to walk and a few words


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

OMIM® : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). (236670) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as hard syndrome, is related to congenital muscular dystrophy-dystroglycanopathy a7 and congenital muscular dystrophy-dystroglycanopathy type a2, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Metabolism and O-linked glycosylation. Affiliated tissues include brain, eye and pons, and related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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 a, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy a7 31.9 FKTN FKRP
2 congenital muscular dystrophy-dystroglycanopathy type a2 31.9 POMT2 POMT1
3 congenital muscular dystrophy-dystroglycanopathy type a5 31.9 RXYLT1 FKRP
4 congenital muscular dystrophy-dystroglycanopathy type a3 31.4 RXYLT1 POMT2 POMT1
5 congenital muscular dystrophy-dystroglycanopathy type a1 30.9 POMT2 POMT1 FKTN FKRP
6 muscular dystrophy-dystroglycanopathy , type c, 1 30.7 POMT2 POMT1 FKTN FKRP
7 walker-warburg syndrome 30.6 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
8 fukuyama type muscular dystrophy 30.5 FKTN FKRP
9 lissencephaly 30.5 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
10 limb-girdle muscular dystrophy 30.3 POMT1 FKTN FKRP
11 muscular dystrophy-dystroglycanopathy , type c, 7 30.1 RXYLT1 FKTN FKRP
12 muscular dystrophy-dystroglycanopathy , type c, 2 29.9 POMT2 POMT1 FKTN FKRP
13 muscular dystrophy-dystroglycanopathy , type a, 4 29.8 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
14 ablepharon-macrostomia syndrome 29.7 POMT1 LARGE1 FKTN FKRP
15 peters-plus syndrome 29.7 POMT2 POMT1 LARGE1
16 muscular dystrophy-dystroglycanopathy , type c, 4 29.7 POMT2 POMT1 FKTN FKRP
17 muscular dystrophy-dystroglycanopathy , type c, 3 29.7 RXYLT1 POMT2 POMT1 FKTN FKRP
18 muscular dystrophy-dystroglycanopathy , type c, 5 29.4 POMT2 POMT1 FKTN FKRP
19 muscle eye brain disease 29.3 POMT2 POMT1 LARGE1 FKTN FKRP B4GAT1
20 muscular dystrophy-dystroglycanopathy , type b, 5 29.2 POMT2 POMT1 FKTN FKRP
21 autosomal recessive limb-girdle muscular dystrophy 29.1 RXYLT1 POMT2 POMT1 FKTN FKRP
22 muscular dystrophy, congenital, lmna-related 29.0 RXYLT1 POMT2 POMT1 FKTN FKRP
23 cobblestone lissencephaly 28.7 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
24 muscular dystrophy 27.9 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
25 muscular dystrophy-dystroglycanopathy 27.9 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
26 muscular dystrophy-dystroglycanopathy , type a, 14 11.6
27 congenital muscular dystrophy-dystroglycanopathy type a13 11.3
28 norrie disease 11.3
29 cerebellar hypoplasia 11.2
30 congenital muscular dystrophy-dystroglycanopathy type a6 11.2
31 congenital muscular dystrophy-dystroglycanopathy type a11 11.2
32 congenital muscular dystrophy-dystroglycanopathy type a8 11.2
33 congenital muscular dystrophy-dystroglycanopathy type a9 11.2
34 congenital muscular dystrophy-dystroglycanopathy a14 11.2
35 congenital muscular dystrophy-dystroglycanopathy type a12 11.2
36 congenital muscular dystrophy-dystroglycanopathy type a10 11.2
37 muscular dystrophy, congenital, merosin-positive 11.2
38 cone dystrophy 4 11.1
39 wieacker-wolff syndrome 11.0
40 atlantic cod allergy 11.0
41 hydrocephalus 10.9
42 muscular dystrophy-dystroglycanopathy , type a, 3 10.9
43 muscular dystrophy-dystroglycanopathy , type a, 2 10.9
44 muscular dystrophy-dystroglycanopathy , type a, 5 10.9
45 muscular dystrophy-dystroglycanopathy , type a, 6 10.9
46 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
47 muscular dystrophy-dystroglycanopathy , type a, 7 10.9
48 muscular dystrophy-dystroglycanopathy , type a, 8 10.9
49 muscular dystrophy-dystroglycanopathy , type a, 10 10.9
50 muscular dystrophy-dystroglycanopathy , type a, 11 10.9

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type a, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

31 (show all 46)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 hydrocephalus 31 HP:0000238
3 cataract 31 HP:0000518
4 global developmental delay 31 HP:0001263
5 corneal opacity 31 HP:0007957
6 microtia 31 HP:0008551
7 microcephaly 31 HP:0000252
8 blindness 31 HP:0000618
9 intellectual disability, severe 31 HP:0010864
10 cleft palate 31 HP:0000175
11 myopia 31 HP:0000545
12 elevated serum creatine kinase 31 HP:0003236
13 glaucoma 31 HP:0000501
14 retinal detachment 31 HP:0000541
15 anal atresia 31 HP:0002023
16 cleft upper lip 31 HP:0000204
17 microphthalmia 31 HP:0000568
18 dandy-walker malformation 31 HP:0001305
19 buphthalmos 31 HP:0000557
20 megalocornea 31 HP:0000485
21 polymicrogyria 31 HP:0002126
22 severe muscular hypotonia 31 HP:0006829
23 cerebellar hypoplasia 31 HP:0001321
24 atresia of the external auditory canal 31 HP:0000413
25 pachygyria 31 HP:0001302
26 hypoplasia of the corpus callosum 31 HP:0002079
27 intellectual disability, profound 31 HP:0002187
28 occipital encephalocele 31 HP:0002085
29 congenital muscular dystrophy 31 HP:0003741
30 peters anomaly 31 HP:0000659
31 excessive daytime somnolence 31 HP:0001262
32 coloboma 31 HP:0000589
33 hypoplastic male external genitalia 31 HP:0000050
34 optic nerve hypoplasia 31 HP:0000609
35 renal dysplasia 31 HP:0000110
36 congenital contracture 31 HP:0002803
37 retinal dysplasia 31 HP:0007973
38 type ii lissencephaly 31 HP:0007260
39 cerebellar dysplasia 31 HP:0007033
40 hypoplasia of the brainstem 31 HP:0002365
41 retinal atrophy 31 HP:0001105
42 posterior fossa cyst 31 HP:0007291
43 agyria 31 HP:0031882
44 seizure 31 HP:0001250
45 hypotonia 31 HP:0001252
46 meningoencephalocele 31 HP:0006888

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
cerebellar hypoplasia
cerebellar dysplasia
ventricular dilatation
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
virtually no active movement at birth (wws)
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Head And Neck Ears:
microtia (wws)
absent auditory canals (wws)

Genitourinary External Genitalia Male:
hypoplastic genitalia (wws)

Head And Neck Eyes:
cataract
myopia
glaucoma
retinal atrophy
corneal clouding
more
Laboratory Abnormalities:
elevated serum creatine kinase

Skeletal Limbs:
congenital contractures

Head And Neck Mouth:
cleft lip (wws)
cleft palate (wws)

Genitourinary Kidneys:
renal dysplasia (wws)

Clinical features from OMIM®:

236670 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:


seizures

MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 B4GAT1 FKRP FKTN LARGE1 POMT1 RXYLT1
2 mortality/aging MP:0010768 9.7 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
3 embryo MP:0005380 9.65 B4GAT1 FKTN POMT1 POMT2 RXYLT1
4 muscle MP:0005369 9.35 B4GAT1 FKRP FKTN LARGE1 POMT1
5 nervous system MP:0003631 9.1 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
2 The Global FKRP Patient Registry Recruiting NCT04001595

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 1 29 FKRP FKTN LARGE1 POMT1 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

40
Brain, Eye, Pons, Skeletal Muscle, Cerebellum, Heart

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57 6
17878207 2007
3
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 6 57
15637732 2005
4
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. 57 6
15037715 2004
5
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 6 57
12369018 2002
6
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 57 6
11320179 2001
7
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. 6
31319225 2019
8
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
9
Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients. 6
28931339 2018
10
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. 6
30003095 2018
11
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. 6
28680109 2017
12
Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. 6
28629604 2017
13
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6
28688748 2017
14
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. 6
28454995 2017
15
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
16
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 6
27848944 2017
17
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. 6
27124789 2016
18
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies. 6
27439679 2016
19
A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy. 6
28112097 2016
20
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. 6
27671536 2016
21
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. 6
27193224 2016
22
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 6
27065010 2016
23
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 6
27142102 2016
24
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. 6
26923585 2016
25
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 6
26809617 2016
26
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. 6
28116189 2016
27
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy. 6
26320847 2016
28
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 6
26436962 2015
29
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. 6
25814170 2015
30
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement. 6
25821721 2015
31
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 6
25135358 2014
32
Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I. 6
24447024 2014
33
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. 6
24491487 2014
34
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations. 6
23420653 2014
35
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia. 6
24144914 2013
36
Detection limit of intragenic deletions with targeted array comparative genomic hybridization. 6
24304607 2013
37
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I. 6
23576288 2013
38
Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes. 6
23591631 2013
39
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. 6
23800702 2013
40
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 6
23894383 2013
41
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 6
23217329 2012
42
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 6
22549409 2012
43
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
44
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. 6
22958903 2012
45
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East. 6
22908982 2012
46
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6
22522420 2012
47
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. 6
22275357 2012
48
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
49
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
50
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 6
20961758 2011

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

6 (show top 50) (show all 746)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKRP NM_024301.5(FKRP):c.898G>A (p.Val300Met) SNV Pathogenic 241460 rs563033008 GRCh37: 19:47259605-47259605
GRCh38: 19:46756348-46756348
2 FKTN NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) SNV Pathogenic 3204 rs119463996 GRCh37: 9:108366653-108366653
GRCh38: 9:105604372-105604372
3 FKRP NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) SNV Pathogenic 408721 rs1060502109 GRCh37: 19:47259790-47259790
GRCh38: 19:46756533-46756533
4 FKRP NM_024301.5(FKRP):c.-39-2934_564del Deletion Pathogenic 408658 GRCh37: 19:47255735-47259271
GRCh38: 19:46752478-46756014
5 FKRP NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) SNV Pathogenic 4223 rs104894682 GRCh37: 19:47260193-47260193
GRCh38: 19:46756936-46756936
6 FKRP NM_024301.5(FKRP):c.142del (p.Arg48fs) Deletion Pathogenic 459229 rs1555738103 GRCh37: 19:47258845-47258845
GRCh38: 19:46755588-46755588
7 FKRP NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) SNV Pathogenic 4219 rs104894680 GRCh37: 19:47259861-47259861
GRCh38: 19:46756604-46756604
8 FKRP NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) Duplication Pathogenic 459232 rs1290836394 GRCh37: 19:47258862-47258863
GRCh38: 19:46755605-46755606
9 FKTN NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) Insertion Pathogenic 566601 rs1564290459 GRCh37: 9:108366528-108366529
GRCh38: 9:105604247-105604248
10 FKRP NM_024301.5(FKRP):c.1141dup (p.Ala381fs) Duplication Pathogenic 556419 rs754403441 GRCh37: 19:47259842-47259843
GRCh38: 19:46756585-46756586
11 FKRP NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) Duplication Pathogenic 580998 rs1568419860 GRCh37: 19:47259782-47259783
GRCh38: 19:46756525-46756526
12 overlap with 2 genes NC_000009.12:g.(?_105546358)_(105620061_?)del Deletion Pathogenic 583945 GRCh37: 9:108308639-108382342
GRCh38: 9:105546358-105620061
13 FKRP NC_000019.10:g.(?_46755431)_(46756958_?)del Deletion Pathogenic 642043 GRCh37: 19:47258688-47260215
GRCh38: 19:46755431-46756958
14 FKTN NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) Deletion Pathogenic 555661 rs1309132512 GRCh37: 9:108337355-108337355
GRCh38: 9:105575074-105575074
15 FKTN NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter) SNV Pathogenic 649651 rs1588222602 GRCh37: 9:108382323-108382323
GRCh38: 9:105620042-105620042
16 FKRP NM_024301.5(FKRP):c.948del (p.Cys317fs) Deletion Pathogenic 664273 rs748798133 GRCh37: 19:47259650-47259650
GRCh38: 19:46756393-46756393
17 FKRP NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) SNV Pathogenic 282247 rs543163491 GRCh37: 19:47259252-47259252
GRCh38: 19:46755995-46755995
18 FKTN NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) SNV Pathogenic 3200 rs119463990 GRCh37: 9:108358912-108358912
GRCh38: 9:105596631-105596631
19 FKRP NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) Duplication Pathogenic 282866 rs886042506 GRCh37: 19:47258867-47258868
GRCh38: 19:46755610-46755611
20 FKTN NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter) SNV Pathogenic 657849 rs1438288380 GRCh37: 9:108377646-108377646
GRCh38: 9:105615365-105615365
21 FKTN NM_006731.2(FKTN):c.432del (p.Arg146fs) Deletion Pathogenic 648485 rs1588110929 GRCh37: 9:108366558-108366558
GRCh38: 9:105604277-105604277
22 FKTN NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs) Duplication Pathogenic 804217 rs1588222870 GRCh37: 9:108382336-108382337
GRCh38: 9:105620055-105620056
23 FKTN NC_000009.12:g.(?_105606576)_(105641128_?)del Deletion Pathogenic 830968 GRCh37: 9:108368857-108403409
GRCh38:
24 FKTN NC_000009.12:g.(?_105575023)_(105575147_?)del Deletion Pathogenic 831068 GRCh37: 9:108337304-108337428
GRCh38:
25 FKTN NM_001079802.2(FKTN):c.329_330del (p.Phe110fs) Deletion Pathogenic 844703 GRCh37: 9:108363588-108363589
GRCh38: 9:105601307-105601308
26 FKTN NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) SNV Pathogenic 167069 rs537001725 GRCh37: 9:108366537-108366537
GRCh38: 9:105604256-105604256
27 FKTN NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) SNV Pathogenic 842124 GRCh37: 9:108370218-108370218
GRCh38: 9:105607937-105607937
28 FKTN NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter) SNV Pathogenic 842546 GRCh37: 9:108370110-108370110
GRCh38: 9:105607829-105607829
29 FKRP NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) SNV Pathogenic 197347 rs752582904 GRCh37: 19:47259654-47259654
GRCh38: 19:46756397-46756397
30 FKTN NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter) SNV Pathogenic 958466 GRCh37: 9:108363627-108363627
GRCh38: 9:105601346-105601346
31 FKRP NM_024301.5(FKRP):c.1238del (p.Leu413fs) Deletion Pathogenic 959873 GRCh37: 19:47259944-47259944
GRCh38: 19:46756687-46756687
32 FKTN NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) SNV Pathogenic 3206 rs119463991 GRCh37: 9:108363606-108363606
GRCh38: 9:105601325-105601325
33 FKRP NM_024301.5(FKRP):c.675del (p.Thr226fs) Deletion Pathogenic 287717 rs886043706 GRCh37: 19:47259382-47259382
GRCh38: 19:46756125-46756125
34 POMT1 NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) SNV Pathogenic 3239 rs119462981 GRCh37: 9:134385788-134385788
GRCh38: 9:131510401-131510401
35 POMT1 NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) Duplication Pathogenic 3240 rs587777817 GRCh37: 9:134398357-134398358
GRCh38: 9:131522970-131522971
36 POMT1 NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) Deletion Pathogenic 3241 rs587777818 GRCh37: 9:134390831-134390833
GRCh38: 9:131515444-131515446
37 POMT1 NM_001077365.2(POMT1):c.418_420del (p.Met140del) Deletion Pathogenic 3254 rs587777820 GRCh37: 9:134382890-134382892
GRCh38: 9:131507503-131507505
38 FKRP NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) SNV Pathogenic 950839 GRCh37: 19:47259790-47259790
GRCh38: 19:46756533-46756533
39 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) SNV Pathogenic 471374 rs1554780670 GRCh37: 9:134393920-134393920
GRCh38: 9:131518533-131518533
40 POMT1 NM_001077365.2(POMT1):c.605+1G>C SNV Pathogenic 538720 rs766648827 GRCh37: 9:134385196-134385196
GRCh38: 9:131509809-131509809
41 POMT1 NM_001077365.2(POMT1):c.699+62del Deletion Pathogenic 538723 rs1356791510 GRCh37: 9:134385445-134385445
GRCh38: 9:131510058-131510058
42 POMT1 NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) SNV Pathogenic 502224 rs765230689 GRCh37: 9:134387431-134387431
GRCh38: 9:131512044-131512044
43 POMT1 NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs) Duplication Pathogenic 635337 rs750453909 GRCh37: 9:134398456-134398457
GRCh38: 9:131523069-131523070
44 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs) Deletion Pathogenic 638831 rs1588375386 GRCh37: 9:134385290-134385290
GRCh38: 9:131509903-131509903
45 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) SNV Pathogenic 658622 rs1588391612 GRCh37: 9:134386846-134386846
GRCh38: 9:131511459-131511459
46 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) Deletion Pathogenic 594265 rs1564364615 GRCh37: 9:134390832-134390833
GRCh38: 9:131515445-131515446
47 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) Duplication Pathogenic 655295 rs1315540509 GRCh37: 9:134397437-134397438
GRCh38: 9:131522050-131522051
48 POMT1 NM_001077365.2(POMT1):c.1671del (p.Ile557fs) Deletion Pathogenic 848752 GRCh37: 9:134395552-134395552
GRCh38: 9:131520165-131520165
49 POMT1 NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) Deletion Pathogenic 864585 GRCh37: 9:134382888-134382888
GRCh38: 9:131507501-131507501
50 POMT1 NM_001077365.2(POMT1):c.1091del (p.Leu364fs) Deletion Pathogenic 933596 GRCh37: 9:134388634-134388634
GRCh38: 9:131513247-131513247

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1:

72
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Gly76Arg VAR_015734 rs28941782
2 POMT1 p.Val428Asp VAR_015735
3 POMT1 p.Arg105Cys VAR_065028 rs128933541
4 POMT1 p.Arg105His VAR_065029 rs155477246
5 POMT1 p.Gly207Val VAR_065031

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 1.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
2
Show member pathways
11.52 POMT2 POMT1 LARGE1 B4GAT1
3
Show member pathways
11.27 POMT2 POMT1
4 10.53 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.87 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
2 integral component of membrane GO:0016021 9.8 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
3 endoplasmic reticulum GO:0005783 9.67 POMT2 POMT1 FKTN FKRP
4 Golgi apparatus GO:0005794 9.55 RXYLT1 LARGE1 FKTN FKRP B4GAT1
5 integral component of Golgi membrane GO:0030173 9.13 LARGE1 FKTN B4GAT1
6 Golgi membrane GO:0000139 9.02 RXYLT1 LARGE1 FKTN FKRP B4GAT1

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.55 POMT2 POMT1 LARGE1 FKTN B4GAT1
2 protein glycosylation GO:0006486 9.5 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
3 mannosylation GO:0097502 9.37 POMT2 POMT1
4 glycoprotein biosynthetic process GO:0009101 9.32 LARGE1 FKRP
5 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
6 protein O-linked mannosylation GO:0035269 9.17 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucuronosyltransferase activity GO:0015020 9.32 LARGE1 B4GAT1
2 mannosyltransferase activity GO:0000030 9.26 POMT2 POMT1
3 transferase activity, transferring glycosyl groups GO:0016757 9.26 POMT2 POMT1 LARGE1 B4GAT1
4 transferase activity GO:0016740 9.17 RXYLT1 POMT2 POMT1 LARGE1 FKTN FKRP
5 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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
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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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