MDDGA1
MCID: MSC047
MIFTS: 59

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 56 73 29 13 6
Muscle-Eye-Brain Disease 73 54 39
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 56 73
Cod-Md Syndrome 56 73
Hard Syndrome 56 73
Mddga1 56 73
Muscular Dystrophy Congenital Associated with Calf Hypertrophy Microcephaly and Severe Mental Retardation 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1 73
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a 73
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related 56
Muscular Dystrophy Congenital Plus Mental Retardation 73
Hydrocephalus, Agyria, and Retinal Dysplasia 56
Walker-Warburg Congenital Muscular Dystrophy 71
Hydrocephalus-Agyria-Retinal Dysplasia 73
Muscle-Eye-Brain Disease Pomt1-Related 73
Walker-Warburg Syndrome Pomt1-Related 73
Muscle Eye Brain Disease 71
Cerebroocular Dysgenesis 73
Walker-Warburg Syndrome 73
Hard +/- E Syndrome 73
Warburg Syndrome 73
Wws 73
Meb 73
Cod 73

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as muscle-eye-brain disease, is related to congenital muscular dystrophy-dystroglycanopathy type a2 and congenital muscular dystrophy-dystroglycanopathy a14, 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 Metabolism of proteins. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are neurological speech impairment and hydrocephalus

UniProtKB/Swiss-Prot : 73 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
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 418)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a2 32.6 POMT2 POMT1
2 congenital muscular dystrophy-dystroglycanopathy a14 32.0 LAMA2 DAG1
3 congenital muscular dystrophy-dystroglycanopathy type a3 31.5 POMT2 POMGNT2 POMGNT1
4 congenital muscular dystrophy-dystroglycanopathy type a5 31.4 POMGNT2 FKRP DAG1
5 congenital muscular dystrophy-dystroglycanopathy type a1 30.6 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
6 muscular dystrophy-dystroglycanopathy , type c, 1 30.3 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
7 ablepharon-macrostomia syndrome 29.8 POMT1 POMGNT1 LARGE1 FKTN FKRP
8 periventricular nodular heterotopia 29.8 POMT2 POMT1 POMGNT1 FKTN
9 respiratory failure 29.7 LAMA2 FKRP DMD
10 peters-plus syndrome 29.6 POMT2 POMT1 POMGNT1 DAG1
11 lissencephaly 29.5 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
12 muscular dystrophy, duchenne type 29.1 LAMA2 FKTN DMD DAG1
13 myopathy 29.1 POMT1 LAMA2 FKTN FKRP DMD DAG1
14 walker-warburg syndrome 29.0 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 LAMA2
15 muscular dystrophy-dystroglycanopathy , type c, 4 28.8 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
16 autosomal recessive limb-girdle muscular dystrophy 28.6 POMT1 LAMA2 FKTN FKRP DMD DAG1
17 limb-girdle muscular dystrophy 28.3 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN FKRP
18 muscle eye brain disease 27.8 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
19 muscular dystrophy-dystroglycanopathy , type a, 4 27.7 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 LAMA2
20 muscular dystrophy, congenital, lmna-related 27.6 POMT2 POMT1 POMGNT1 LAMA2 FKTN FKRP
21 muscular dystrophy-dystroglycanopathy , type c, 5 27.3 POMT2 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
22 cobblestone lissencephaly 27.2 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
23 muscular dystrophy-dystroglycanopathy , type b, 5 27.1 POMT2 POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
24 muscular dystrophy-dystroglycanopathy 25.9 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 LAMA2
25 muscular dystrophy 25.8 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 LAMA2
26 atlantic cod allergy 12.3
27 muscular dystrophy-dystroglycanopathy , type a, 14 12.1
28 cerebellar hypoplasia 11.8
29 congenital muscular dystrophy-dystroglycanopathy type a13 11.6
30 muscular dystrophy, congenital, merosin-positive 11.5
31 congenital muscular dystrophy-dystroglycanopathy type a11 11.5
32 congenital muscular dystrophy-dystroglycanopathy type a8 11.5
33 congenital muscular dystrophy-dystroglycanopathy type a9 11.5
34 congenital muscular dystrophy-dystroglycanopathy a7 11.5
35 congenital muscular dystrophy-dystroglycanopathy type a12 11.5
36 congenital muscular dystrophy-dystroglycanopathy type a10 11.5
37 congenital muscular dystrophy-dystroglycanopathy type a6 11.5
38 cone dystrophy 4 11.4
39 norrie disease 11.4
40 apocrine gland secretion, variation in 11.4
41 fukuyama type muscular dystrophy 11.3
42 wieacker-wolff syndrome 11.2
43 muscular dystrophy-dystroglycanopathy , type a, 3 11.1
44 muscular dystrophy-dystroglycanopathy , type a, 2 11.1
45 muscular dystrophy-dystroglycanopathy , type a, 5 11.1
46 muscular dystrophy-dystroglycanopathy , type a, 6 11.1
47 muscular dystrophy-dystroglycanopathy , type b, 1 11.1
48 muscular dystrophy-dystroglycanopathy , type a, 7 11.1
49 muscular dystrophy-dystroglycanopathy , type a, 8 11.1
50 muscular dystrophy-dystroglycanopathy , type a, 10 11.1

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 top 50) (show all 61)
# Description HPO Frequency HPO Source Accession
1 neurological speech impairment 31 hallmark (90%) HP:0002167
2 hydrocephalus 31 hallmark (90%) HP:0000238
3 visual impairment 31 hallmark (90%) HP:0000505
4 optic atrophy 31 hallmark (90%) HP:0000648
5 eeg abnormality 31 hallmark (90%) HP:0002353
6 cognitive impairment 31 hallmark (90%) HP:0100543
7 myopathy 31 hallmark (90%) HP:0003198
8 gait disturbance 31 hallmark (90%) HP:0001288
9 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
10 emg abnormality 31 hallmark (90%) HP:0003457
11 strabismus 31 hallmark (90%) HP:0000486
12 myopia 31 hallmark (90%) HP:0000545
13 glaucoma 31 hallmark (90%) HP:0000501
14 cataract 31 frequent (33%) HP:0000518
15 muscular hypotonia 31 frequent (33%) HP:0001252
16 hypertonia 31 frequent (33%) HP:0001276
17 abnormality of the voice 31 frequent (33%) HP:0001608
18 seizure 31 frequent (33%) HP:0001250
19 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
20 meningocele 31 occasional (7.5%) HP:0002435
21 holoprosencephaly 31 occasional (7.5%) HP:0001360
22 aplasia/hypoplasia of the cerebellum 31 occasional (7.5%) HP:0007360
23 global developmental delay 31 HP:0001263
24 corneal opacity 31 HP:0007957
25 microtia 31 HP:0008551
26 microcephaly 31 HP:0000252
27 blindness 31 HP:0000618
28 intellectual disability, severe 31 HP:0010864
29 cleft palate 31 HP:0000175
30 retinal detachment 31 HP:0000541
31 anal atresia 31 HP:0002023
32 cleft upper lip 31 HP:0000204
33 microphthalmia 31 HP:0000568
34 dandy-walker malformation 31 HP:0001305
35 buphthalmos 31 HP:0000557
36 megalocornea 31 HP:0000485
37 agenesis of corpus callosum 31 HP:0001274
38 polymicrogyria 31 HP:0002126
39 severe muscular hypotonia 31 HP:0006829
40 cerebellar hypoplasia 31 HP:0001321
41 atresia of the external auditory canal 31 HP:0000413
42 pachygyria 31 HP:0001302
43 hypoplasia of the corpus callosum 31 HP:0002079
44 intellectual disability, profound 31 HP:0002187
45 occipital encephalocele 31 HP:0002085
46 congenital muscular dystrophy 31 HP:0003741
47 peters anomaly 31 HP:0000659
48 coloboma 31 HP:0000589
49 hypoplastic male external genitalia 31 HP:0000050
50 optic nerve hypoplasia 31 HP:0000609

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
myopia
glaucoma
retinal atrophy
corneal clouding
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)

Neurologic Central Nervous System:
seizures
hydrocephalus
cerebellar hypoplasia
cerebellar dysplasia
ventricular dilatation
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

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


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased IL-8 secretion GR00386-A-2 8.8 B4GAT1 FKRP FKTN

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
2 cellular MP:0005384 10.02 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
3 growth/size/body region MP:0005378 10.02 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
4 mortality/aging MP:0010768 10 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
5 muscle MP:0005369 9.81 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
6 nervous system MP:0003631 9.7 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
7 vision/eye MP:0005391 9.1 DAG1 DMD FKRP LARGE1 POMGNT1 POMT1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
3 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
4 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, Cerebellum, Pons, Skeletal Muscle, Cortex, Heart

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

(show top 50) (show all 211)
# Title Authors PMID Year
1
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 56 6 61
12369018 2002
2
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 56 6 61
11320179 2001
3
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 56
19299310 2009
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 56 6
17878207 2007
5
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. 6 56
15037715 2004
6
Muscular dystrophies due to glycosylation defects. 56 61
19019316 2008
7
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
8
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 6
18513969 2008
9
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 56
15637732 2005
10
The congenital muscular dystrophies in 2004: a century of exciting progress. 56
15351421 2004
11
De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. 56
11932995 2002
12
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001
13
Prenatal diagnosis of Walker-Warburg syndrome in three sibs. 56
9511971 1998
14
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). 56
7501167 1995
15
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. 56
7477753 1995
16
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. 56
7604843 1995
17
Developmental aspects of type II lissencephaly. Comparative study of dysplastic lesions in fetal and post-natal brains. 56
7709734 1995
18
Walker-Warburg syndrome: report of three affected sibs. 56
8116667 1994
19
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. 56
1518026 1992
20
Walker-Warburg syndrome with microtia and absent auditory canals. 56
2240049 1990
21
Diagnostic criteria for Walker-Warburg syndrome. 56
2494887 1989
22
Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome. 56
3122570 1987
23
Walker-Warburg syndrome with cleft lip and cleft palate in two sibs. 56
3631127 1987
24
Cerebro-ocular dysplasia-muscular dystrophy syndrome. Report of two cases. 56
3105522 1987
25
Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). 56
3088278 1986
26
Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. 56
3931474 1985
27
Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. 56
6504323 1984
28
Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families. 56
6714263 1984
29
Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. 56
6441438 1984
30
Brief clinical report: HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance. 56
6405616 1983
31
Warburg syndrome: lethal neurodysplasia with autosomal recessive inheritance. 56
6339705 1983
32
Hydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies. 56
7277429 1981
33
Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. 56
413438 1978
34
Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia. A guide to genetic counselling. 56
950240 1976
35
A familial syndrome of central nervous system and ocular malformations. 56
803883 1975
36
Congenital encephalo-ophthalmic dysplasia. 56
21002031 1946
37
Mutations alter secretion of fukutin-related protein. 54 61
19900540 2010
38
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. 61 54
20044576 2010
39
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. 61 54
19547838 2009
40
[Congenital muscular dystrophy and alpha-dystroglycanopathy]. 61 54
18939472 2008
41
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. 61 54
17881266 2008
42
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 54 61
18195152 2008
43
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 61 54
17906881 2007
44
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. 61 54
17554798 2007
45
Molecular heterogeneity in fetal forms of type II lissencephaly. 61 54
17559086 2007
46
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 61 54
17030669 2006
47
A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). 54 61
16458488 2006
48
O-mannosylation in mammalian cells. 61 54
17072003 2006
49
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 54 61
15466003 2004
50
Journey into muscular dystrophies caused by abnormal glycosylation. 54 61
15605948 2004

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 526) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKRP NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)SNV Pathogenic 408721 rs1060502109 19:47259790-47259790 19:46756533-46756533
2 FKRP NM_024301.5(FKRP):c.-39-2934_564deldeletion Pathogenic 408658 19:47255735-47259271 19:46752478-46756014
3 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)SNV Pathogenic 471374 rs1554780670 9:134393920-134393920 9:131518533-131518533
4 FKRP NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)duplication Pathogenic 459232 rs1290836394 19:47258862-47258863 19:46755605-46755606
5 FKRP NM_024301.5(FKRP):c.142del (p.Arg48fs)deletion Pathogenic 459229 rs1555738103 19:47258845-47258845 19:46755588-46755588
6 POMT1 NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)SNV Pathogenic 502224 rs765230689 9:134387431-134387431 9:131512044-131512044
7 POMT1 NM_001077365.2(POMT1):c.605+1G>CSNV Pathogenic 538720 rs766648827 9:134385196-134385196 9:131509809-131509809
8 POMT1 NM_001077365.2(POMT1):c.699+62deldeletion Pathogenic 538723 rs1356791510 9:134385445-134385445 9:131510058-131510058
9 FKTN NC_000009.12:g.(?_105546358)_(105620061_?)deldeletion Pathogenic 583945 9:108308639-108382342 9:105546358-105620061
10 FKTN NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)insertion Pathogenic 566601 rs1564290459 9:108366528-108366529 9:105604247-105604248
11 FKRP NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs)duplication Pathogenic 580998 rs1568419860 19:47259782-47259783 19:46756525-46756526
12 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)deletion Pathogenic 594265 rs1564364615 9:134390832-134390833 9:131515445-131515446
13 POMT1 NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs)duplication Pathogenic 635337 9:134398456-134398457 9:131523069-131523070
14 FKTN NM_006731.2(FKTN):c.432del (p.Arg146fs)deletion Pathogenic 648485 9:108366558-108366558 9:105604277-105604277
15 FKTN NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)SNV Pathogenic 657849 9:108377646-108377646 9:105615365-105615365
16 FKTN NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)SNV Pathogenic 649651 9:108382323-108382323 9:105620042-105620042
17 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)duplication Pathogenic 655295 9:134397437-134397438 9:131522050-131522051
18 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs)deletion Pathogenic 638831 9:134385290-134385290 9:131509903-131509903
19 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)SNV Pathogenic 658622 9:134386846-134386846 9:131511459-131511459
20 FKRP NM_024301.5(FKRP):c.948del (p.Cys317fs)deletion Pathogenic 664273 19:47259650-47259650 19:46756393-46756393
21 FKRP NC_000019.10:g.(?_46755431)_(46756958_?)deldeletion Pathogenic 642043 19:47258688-47260215 19:46755431-46756958
22 POMT1 NM_001077365.2(POMT1):c.1175+4_1175+7deldeletion Pathogenic 800791 9:134388719-134388722 9:131513332-131513335
23 FKTN NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs)duplication Pathogenic 804217 9:108382336-108382337 9:105620055-105620056
24 FKTN NC_000009.12:g.(?_105575023)_(105575147_?)deldeletion Pathogenic 831068 9:108337304-108337428
25 FKTN NC_000009.12:g.(?_105606576)_(105641128_?)deldeletion Pathogenic 830968 9:108368857-108403409
26 FKTN NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)SNV Pathogenic 842124 9:108370218-108370218 9:105607937-105607937
27 POMT1 NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)deletion Pathogenic 864585 9:134382888-134382888 9:131507501-131507501
28 POMT1 NM_001077365.2(POMT1):c.1671del (p.Ile557fs)deletion Pathogenic 848752 9:134395552-134395552 9:131520165-131520165
29 POMT1 NM_001077365.2(POMT1):c.280+1G>TSNV Pathogenic 691982 9:134381841-134381841 9:131506454-131506454
30 FKTN NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)deletion Pathogenic 844703 9:108363588-108363589 9:105601307-105601308
31 FKTN NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)SNV Pathogenic 3200 rs119463990 9:108358912-108358912 9:105596631-105596631
32 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)duplication Pathogenic 3203 rs398123555 9:108382330-108382331 9:105620049-105620050
33 FKTN NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)SNV Pathogenic 3204 rs119463996 9:108366653-108366653 9:105604372-105604372
34 FKTN NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)SNV Pathogenic 3206 rs119463991 9:108363606-108363606 9:105601325-105601325
35 FKTN NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)SNV Pathogenic 3208 rs119463992 9:108380249-108380249 9:105617968-105617968
36 FKTN NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)SNV Pathogenic 842546 9:108370110-108370110 9:105607829-105607829
37 POMT1 NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg)SNV Pathogenic 3238 rs28941782 9:134381604-134381604 9:131506217-131506217
38 POMT1 NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter)SNV Pathogenic 3239 rs119462981 9:134385788-134385788 9:131510401-131510401
39 POMT1 NM_001077365.2(POMT1):c.2044dup (p.Ala682fs)duplication Pathogenic 3240 rs587777817 9:134398357-134398358 9:131522970-131522971
40 POMT1 NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del)deletion Pathogenic 3241 rs587777818 9:134390831-134390833 9:131515444-131515446
41 POMT1 NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs)short repeat Pathogenic 3252 rs587777819 9:134398425-134398426 9:131523038-131523039
42 POMT1 NM_001077365.2(POMT1):c.418_420del (p.Met140del)deletion Pathogenic 3254 rs587777820 9:134382890-134382892 9:131507503-131507505
43 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)duplication Pathogenic 3255 rs398124245 9:134398412-134398413 9:131523025-131523026
44 FKRP NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)SNV Pathogenic 4219 rs104894680 19:47259861-47259861 19:46756604-46756604
45 FKTN NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)SNV Pathogenic 3216 rs267606814 9:108380248-108380248 9:105617967-105617967
46 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276
47 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)SNV Pathogenic 4235 rs121908110 19:47260094-47260094 19:46756837-46756837
48 FKRP NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)SNV Pathogenic 4226 rs28937903 19:47260071-47260071 19:46756814-46756814
49 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)SNV Pathogenic 95452 rs200056620 9:134388630-134388630 9:131513243-131513243
50 FKRP NM_024301.5(FKRP):c.941C>T (p.Thr314Met)SNV Pathogenic 96115 rs398124395 19:47259648-47259648 19:46756391-46756391

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

73
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Gly76Arg VAR_015734 rs28941782
2 POMT1 p.Val428Asp VAR_015735
3 POMT1 p.Ser537Arg VAR_026697 rs150367385
4 POMT1 p.Arg105Cys VAR_065028 rs128933541
5 POMT1 p.Arg105His VAR_065029
6 POMT1 p.Gly207Val VAR_065031

Copy number variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32201 1 34400000 51300000 Copy number POMGNT1 Muscle-eye-brain disease

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

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 10.13 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
2 integral component of membrane GO:0016021 10.06 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
3 endoplasmic reticulum GO:0005783 9.85 POMT2 POMT1 POMGNT2 FKTN FKRP
4 Golgi apparatus GO:0005794 9.73 POMGNT1 LARGE1 FKTN FKRP DMD B4GAT1
5 Golgi membrane GO:0000139 9.55 POMGNT1 LARGE1 FKTN FKRP B4GAT1
6 costamere GO:0043034 9.37 DMD DAG1
7 dystrophin-associated glycoprotein complex GO:0016010 9.32 DMD DAG1
8 sarcolemma GO:0042383 9.26 LAMA2 FKRP DMD DAG1
9 integral component of Golgi membrane GO:0030173 8.92 POMGNT1 LARGE1 FKTN B4GAT1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.76 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
2 extracellular matrix organization GO:0030198 9.71 POMT1 LAMA2 DAG1
3 muscle organ development GO:0007517 9.61 LAMA2 FKTN DMD
4 maintenance of permeability of blood-brain barrier GO:0035633 9.52 LAMA2 DMD
5 positive regulation of cell-matrix adhesion GO:0001954 9.51 DMD DAG1
6 protein O-linked glycosylation GO:0006493 9.5 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
7 muscle cell cellular homeostasis GO:0046716 9.49 LARGE1 DMD
8 mannosylation GO:0097502 9.48 POMT2 POMT1
9 glycoprotein biosynthetic process GO:0009101 9.46 LARGE1 FKRP
10 skeletal muscle tissue regeneration GO:0043403 9.43 LARGE1 DMD DAG1
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.4 DMD DAG1
12 Schwann cell differentiation GO:0014037 9.37 LAMA2 DAG1
13 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1
14 protein O-linked mannosylation GO:0035269 9.17 POMT2 POMT1 POMGNT2 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 transferase activity GO:0016740 9.76 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
2 structural constituent of muscle GO:0008307 9.46 DMD DAG1
3 glucuronosyltransferase activity GO:0015020 9.43 LARGE1 B4GAT1
4 acetylglucosaminyltransferase activity GO:0008375 9.43 POMGNT2 POMGNT1 LARGE1
5 mannosyltransferase activity GO:0000030 9.4 POMT2 POMT1
6 vinculin binding GO:0017166 9.37 DMD DAG1
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT2 POMT1
8 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
9 transferase activity, transferring glycosyl groups GO:0016757 9.1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 B4GAT1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....