MDDGA1
MCID: MSC047
MIFTS: 56

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 75 29 13 6
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 57 75
Cod-Md Syndrome 57 75
Hard Syndrome 57 75
Mddga1 57 75
Muscular Dystrophy Congenital Associated with Calf Hypertrophy Microcephaly and Severe Mental Retardation 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A1 75
Muscular Dystrophy Due to Defective Glycosylation of Dystroglycan 1a 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related 57
Muscular Dystrophy Congenital Plus Mental Retardation 75
Hydrocephalus, Agyria, and Retinal Dysplasia 57
Walker-Warburg Congenital Muscular Dystrophy 73
Hydrocephalus-Agyria-Retinal Dysplasia 75
Muscle-Eye-Brain Disease Pomt1-Related 75
Walker-Warburg Syndrome Pomt1-Related 75
Muscle Eye Brain Disease 73
Muscle-Eye-Brain Disease 75
Cerebroocular Dysgenesis 75
Walker-Warburg Syndrome 75
Hard +/- E Syndrome 75
Warburg Syndrome 75
Wws 75
Meb 75
Cod 75

Characteristics:

OMIM:

57
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:

32
muscular dystrophy-dystroglycanopathy , type a, 1:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 1, also known as cerebroocular dysplasia-muscular dystrophy syndrome, is related to lissencephaly and muscular dystrophy-dystroglycanopathy , type c, 1, 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 agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : 75 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

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 32.3 DAG1 FKRP FKTN
2 muscular dystrophy-dystroglycanopathy , type c, 1 31.6 POMT1 POMT2
3 walker-warburg syndrome 30.3 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
4 autosomal recessive limb-girdle muscular dystrophy 30.2 DMD FKRP POMT1
5 limb-girdle muscular dystrophy 29.7 DMD FKRP FKTN LAMA2 POMGNT1 POMT1
6 muscular dystrophy-dystroglycanopathy , type a, 4 29.5 DAG1 DMD FKRP FKTN LAMA2 LARGE1
7 muscular dystrophy, congenital, lmna-related 29.2 DAG1 DMD FKRP FKTN LAMA2 POMGNT1
8 muscle eye brain disease 29.2 B4GAT1 DAG1 FKRP FKTN LARGE1 POMGNT1
9 muscular dystrophy 28.0 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
10 atlantic cod allergy 12.1
11 muscular dystrophy-dystroglycanopathy , type a, 14 12.0
12 cerebellar hypoplasia 11.3
13 muscular dystrophy, congenital, merosin-positive 11.3
14 norrie disease 11.3
15 apocrine gland secretion, variation in 11.2
16 intellectual disability-developmental delay-contractures syndrome 11.1
17 muscular dystrophy-dystroglycanopathy , type a, 3 11.0
18 muscular dystrophy-dystroglycanopathy , type a, 2 11.0
19 muscular dystrophy-dystroglycanopathy , type a, 5 11.0
20 muscular dystrophy-dystroglycanopathy , type a, 6 11.0
21 muscular dystrophy-dystroglycanopathy , type b, 1 11.0
22 muscular dystrophy-dystroglycanopathy , type a, 7 11.0
23 muscular dystrophy-dystroglycanopathy , type a, 8 11.0
24 muscular dystrophy-dystroglycanopathy , type a, 10 11.0
25 muscular dystrophy-dystroglycanopathy , type a, 11 11.0
26 muscular dystrophy-dystroglycanopathy , type a, 12 11.0
27 muscular dystrophy-dystroglycanopathy , type a, 13 11.0
28 muscular dystrophy-dystroglycanopathy , type a, 9 11.0
29 hydrocephalus 10.5
30 fukuyama type muscular dystrophy 10.5
31 cleft palate, isolated 10.4
32 retinal detachment 10.4
33 cleft lip 10.4
34 congenital hydrocephalus 10.4
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
36 sensorineural hearing loss 10.3
37 myopathy 10.3
38 renal oncocytoma 10.1
39 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 POMT1 POMT2
40 muscular dystrophy, duchenne type 10.1
41 west syndrome 10.1
42 cataract 10.1
43 persistent hyperplastic primary vitreous 10.1
44 microphthalmia 10.1
45 meningocele 10.1
46 microcephaly 10.1
47 polyneuropathy 10.1
48 gonadal dysgenesis 10.1
49 congenital muscular dystrophy type 1a 10.1
50 dandy-walker complex 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebellar hypoplasia
cerebellar dysplasia
ventricular dilatation
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
elevated serum creatine kinase

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

Skeletal Limbs:
congenital contractures

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

Genitourinary Kidneys:
renal dysplasia (wws)


Clinical features from OMIM:

236670

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

32 (show top 50) (show all 62)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 hydrocephalus 32 hallmark (90%) HP:0000238
3 seizures 32 frequent (33%) HP:0001250
4 muscular hypotonia 32 frequent (33%) HP:0001252
5 gait disturbance 32 hallmark (90%) HP:0001288
6 neurological speech impairment 32 hallmark (90%) HP:0002167
7 eeg abnormality 32 hallmark (90%) HP:0002353
8 cataract 32 frequent (33%) HP:0000518
9 global developmental delay 32 HP:0001263
10 corneal opacity 32 HP:0007957
11 microtia 32 HP:0008551
12 microcephaly 32 HP:0000252
13 visual impairment 32 hallmark (90%) HP:0000505
14 optic atrophy 32 hallmark (90%) HP:0000648
15 blindness 32 HP:0000618
16 hypertonia 32 frequent (33%) HP:0001276
17 cognitive impairment 32 hallmark (90%) HP:0100543
18 myopathy 32 hallmark (90%) HP:0003198
19 intellectual disability, severe 32 HP:0010864
20 elevated serum creatine phosphokinase 32 hallmark (90%) HP:0003236
21 emg abnormality 32 hallmark (90%) HP:0003457
22 cleft palate 32 HP:0000175
23 hemiplegia/hemiparesis 32 occasional (7.5%) HP:0004374
24 strabismus 32 hallmark (90%) HP:0000486
25 megalocornea 32 HP:0000485
26 myopia 32 hallmark (90%) HP:0000545
27 aplasia/hypoplasia of the cerebellum 32 occasional (7.5%) HP:0007360
28 optic nerve hypoplasia 32 HP:0000609
29 cerebellar hypoplasia 32 HP:0001321
30 microphthalmia 32 HP:0000568
31 glaucoma 32 hallmark (90%) HP:0000501
32 retinal detachment 32 HP:0000541
33 meningocele 32 occasional (7.5%) HP:0002435
34 abnormality of the voice 32 frequent (33%) HP:0001608
35 anal atresia 32 HP:0002023
36 retinal dysplasia 32 HP:0007973
37 buphthalmos 32 HP:0000557
38 intellectual disability, profound 32 HP:0002187
39 holoprosencephaly 32 occasional (7.5%) HP:0001360
40 cleft upper lip 32 HP:0000204
41 atresia of the external auditory canal 32 HP:0000413
42 pachygyria 32 HP:0001302
43 polymicrogyria 32 HP:0002126
44 dandy-walker malformation 32 HP:0001305
45 congenital muscular dystrophy 32 HP:0003741
46 severe muscular hypotonia 32 HP:0006829
47 hypoplasia of the corpus callosum 32 HP:0002079
48 cerebellar dysplasia 32 HP:0007033
49 occipital encephalocele 32 HP:0002085
50 coloboma 32 HP:0000589

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 Decreased IL-8 secretion GR00386-A-2 9.1 B4GAT1 DAG1 FKRP FKTN LAMA2 POMT1

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 10.11 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
2 cellular MP:0005384 10.09 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
3 growth/size/body region MP:0005378 10.06 DAG1 DMD FKRP FKTN LAMA2 LARGE1
4 homeostasis/metabolism MP:0005376 10.02 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
5 mortality/aging MP:0010768 10 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
6 immune system MP:0005387 9.87 B4GAT1 DMD FKRP FKTN LAMA2 LARGE1
7 muscle MP:0005369 9.81 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
8 nervous system MP:0003631 9.7 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
9 vision/eye MP:0005391 9.1 DAG1 DMD FKRP LARGE1 POMGNT1 POMT1

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

Search Clinical Trials , 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:

41
Brain, Eye, Cerebellum, Cortex, Lung, Ovary, Thyroid

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

# Title Authors Year
1
Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome. ( 6441438 )
1984

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

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

75
# 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

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

6 (show top 50) (show all 622)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh38 Chromosome 9, 105620056: 105620056
2 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh37 Chromosome 9, 108382337: 108382337
3 FKTN NM_001079802.1(FKTN): c.527T> C (p.Phe176Ser) single nucleotide variant Pathogenic rs119463996 GRCh37 Chromosome 9, 108366653: 108366653
4 FKTN NM_001079802.1(FKTN): c.527T> C (p.Phe176Ser) single nucleotide variant Pathogenic rs119463996 GRCh38 Chromosome 9, 105604372: 105604372
5 FKTN NM_001079802.1(FKTN): c.373G> A (p.Gly125Ser) single nucleotide variant Benign rs34006675 GRCh37 Chromosome 9, 108366499: 108366499
6 FKTN NM_001079802.1(FKTN): c.373G> A (p.Gly125Ser) single nucleotide variant Benign rs34006675 GRCh38 Chromosome 9, 105604218: 105604218
7 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119464998 GRCh37 Chromosome 9, 108382282: 108382282
8 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119464998 GRCh38 Chromosome 9, 105620001: 105620001
9 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
10 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh38 Chromosome 14, 77278764: 77278764
11 POMT1 NM_007171.3(POMT1): c.226G> A (p.Gly76Arg) single nucleotide variant Pathogenic rs28941782 GRCh37 Chromosome 9, 134381604: 134381604
12 POMT1 NM_007171.3(POMT1): c.226G> A (p.Gly76Arg) single nucleotide variant Pathogenic rs28941782 GRCh38 Chromosome 9, 131506217: 131506217
13 POMT1 NM_007171.3(POMT1): c.907C> T (p.Gln303Ter) single nucleotide variant Pathogenic rs119462981 GRCh37 Chromosome 9, 134385788: 134385788
14 POMT1 NM_007171.3(POMT1): c.907C> T (p.Gln303Ter) single nucleotide variant Pathogenic rs119462981 GRCh38 Chromosome 9, 131510401: 131510401
15 POMT1 NM_007171.3(POMT1): c.2110dupG (p.Ala704Glyfs) duplication Pathogenic rs587777817 GRCh38 Chromosome 9, 131522972: 131522972
16 POMT1 NM_007171.3(POMT1): c.2110dupG (p.Ala704Glyfs) duplication Pathogenic rs587777817 GRCh37 Chromosome 9, 134398359: 134398359
17 POMT1 NM_007171.3(POMT1): c.1260_1262delCCT (p.Leu421del) deletion Pathogenic rs587777818 GRCh38 Chromosome 9, 131515444: 131515446
18 POMT1 NM_007171.3(POMT1): c.1260_1262delCCT (p.Leu421del) deletion Pathogenic rs587777818 GRCh37 Chromosome 9, 134390831: 134390833
19 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
20 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh38 Chromosome 9, 131509801: 131509801
21 POMT1 NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs119462985 GRCh37 Chromosome 9, 134394332: 134394332
22 POMT1 NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs119462985 GRCh38 Chromosome 9, 131518945: 131518945
23 POMT1 NM_007171.3(POMT1): c.1770G> C (p.Gln590His) single nucleotide variant Pathogenic rs119462986 GRCh37 Chromosome 9, 134396738: 134396738
24 POMT1 NM_007171.3(POMT1): c.1770G> C (p.Gln590His) single nucleotide variant Pathogenic rs119462986 GRCh38 Chromosome 9, 131521351: 131521351
25 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
26 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely pathogenic rs119462987 GRCh38 Chromosome 9, 131522160: 131522160
27 POMT1 NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs) deletion Pathogenic rs587777819 GRCh37 Chromosome 9, 134398428: 134398429
28 POMT1 NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs) deletion Pathogenic rs587777819 GRCh38 Chromosome 9, 131523041: 131523042
29 POMT1 NM_007171.3(POMT1): c.418_420delATG (p.Met140del) deletion Pathogenic rs587777820 GRCh38 Chromosome 9, 131507505: 131507507
30 POMT1 NM_007171.3(POMT1): c.418_420delATG (p.Met140del) deletion Pathogenic rs587777820 GRCh37 Chromosome 9, 134382892: 134382894
31 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
32 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
33 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh37 Chromosome 19, 47259861: 47259861
34 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh38 Chromosome 19, 46756604: 46756604
35 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
36 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
37 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
38 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
39 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
40 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
41 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh37 Chromosome 19, 47258942: 47258942
42 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh38 Chromosome 19, 46755685: 46755685
43 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
44 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
45 FKTN NM_006731.2(FKTN): c.1023G> A (p.Pro341=) single nucleotide variant Benign/Likely benign rs146967918 GRCh37 Chromosome 9, 108380352: 108380352
46 FKTN NM_006731.2(FKTN): c.1023G> A (p.Pro341=) single nucleotide variant Benign/Likely benign rs146967918 GRCh38 Chromosome 9, 105618071: 105618071
47 FKTN NM_006731.2(FKTN): c.1297A> G (p.Thr433Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs141918432 GRCh37 Chromosome 9, 108397456: 108397456
48 FKTN NM_006731.2(FKTN): c.1297A> G (p.Thr433Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs141918432 GRCh38 Chromosome 9, 105635175: 105635175
49 FKTN NM_001079802.1(FKTN): c.1336A> G (p.Asn446Asp) single nucleotide variant Benign/Likely benign rs41313301 GRCh37 Chromosome 9, 108397495: 108397495
50 FKTN NM_001079802.1(FKTN): c.1336A> G (p.Asn446Asp) single nucleotide variant Benign/Likely benign rs41313301 GRCh38 Chromosome 9, 105635214: 105635214

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

7
# CNVD ID Chromosom 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 endoplasmic reticulum GO:0005783 9.85 FKRP FKTN POMGNT2 POMT1 POMT2
2 Golgi membrane GO:0000139 9.73 B4GAT1 FKRP LARGE1 POMGNT1
3 Golgi apparatus GO:0005794 9.73 B4GAT1 DMD FKRP FKTN LARGE1 POMGNT1
4 sarcolemma GO:0042383 9.46 DAG1 DMD FKRP LAMA2
5 costamere GO:0043034 9.32 DAG1 DMD
6 dystrophin-associated glycoprotein complex GO:0016010 9.13 DAG1 DMD FKRP
7 integral component of Golgi membrane GO:0030173 8.92 B4GAT1 FKTN LARGE1 POMGNT1
8 membrane GO:0016020 10.1 B4GAT1 DAG1 DMD FKRP FKTN LARGE1
9 integral component of membrane GO:0016021 10.02 B4GAT1 DAG1 FKRP FKTN LARGE1 POMGNT1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.76 B4GAT1 FKRP FKTN LARGE1 POMGNT1 POMGNT2
2 extracellular matrix organization GO:0030198 9.69 DAG1 LAMA2 POMT1
3 muscle organ development GO:0007517 9.63 DMD FKTN LAMA2
4 protein O-linked glycosylation GO:0006493 9.5 B4GAT1 FKTN LARGE1 POMGNT1 POMGNT2 POMT1
5 muscle cell cellular homeostasis GO:0046716 9.49 DMD LARGE1
6 mannosylation GO:0097502 9.48 POMT1 POMT2
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 DAG1 DMD
8 skeletal muscle tissue regeneration GO:0043403 9.43 DAG1 DMD LARGE1
9 glycoprotein biosynthetic process GO:0009101 9.4 FKRP LARGE1
10 Schwann cell differentiation GO:0014037 9.37 DAG1 LAMA2
11 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT1 POMT2
12 protein O-linked mannosylation GO:0035269 9.17 B4GAT1 FKRP FKTN LARGE1 POMGNT2 POMT1

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 B4GAT1 FKRP FKTN LARGE1 POMGNT1 POMGNT2
2 manganese ion binding GO:0030145 9.46 LARGE1 POMGNT1
3 structural constituent of muscle GO:0008307 9.43 DAG1 DMD
4 acetylglucosaminyltransferase activity GO:0008375 9.43 LARGE1 POMGNT1 POMGNT2
5 glucuronosyltransferase activity GO:0015020 9.4 B4GAT1 LARGE1
6 vinculin binding GO:0017166 9.37 DAG1 DMD
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
8 dystroglycan binding GO:0002162 9.13 DAG1 DMD FKRP
9 transferase activity, transferring glycosyl groups GO:0016757 9.1 B4GAT1 LARGE1 POMGNT1 POMGNT2 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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