MDDGA3
MCID: MSC045
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 (MDDGA3)

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, 3

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 3 57 75 13 6 73
Mddga3 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related 57
Muscle-Eye-Brain Disease Pomgnt1-Related 75
Walker-Warburg Syndrome Pomgnt1-Related 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
two patients with a wws phenotype have been reported


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 3:
Onset and clinical course congenital onset phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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 an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (253280)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 3, also known as mddga3, is related to muscle eye brain disease, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye, brain and retina, and related phenotypes are malar flattening and hydrocephalus

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3: An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. 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, 3

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

# Related Disease Score Top Affiliating Genes
1 muscle eye brain disease 11.7

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebellar hypoplasia
pachygyria
polymicrogyria
more
Head And Neck Head:
microcephaly

Head And Neck Face:
midface hypoplasia
micrognathia, mild

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
nystagmus
strabismus
megalocornea
myopia
microphthalmia
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Head And Neck Nose:
short nasal bridge

Head And Neck Mouth:
everted lower lip


Clinical features from OMIM:

253280

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

32 (show all 49)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hydrocephalus 32 HP:0000238
3 nystagmus 32 HP:0000639
4 seizures 32 HP:0001250
5 spasticity 32 HP:0001257
6 muscle weakness 32 HP:0001324
7 eeg abnormality 32 HP:0002353
8 cataract 32 HP:0000518
9 microcephaly 32 HP:0000252
10 optic atrophy 32 HP:0000648
11 intellectual disability, severe 32 HP:0010864
12 elevated serum creatine phosphokinase 32 HP:0003236
13 generalized muscle weakness 32 HP:0003324
14 micrognathia 32 HP:0000347
15 pallor 32 HP:0000980
16 opacification of the corneal stroma 32 HP:0007759
17 strabismus 32 HP:0000486
18 megalocornea 32 HP:0000485
19 severe global developmental delay 32 HP:0011344
20 myoclonus 32 HP:0001336
21 everted lower lip vermilion 32 HP:0000232
22 myopia 32 HP:0000545
23 ventriculomegaly 32 HP:0002119
24 cerebellar hypoplasia 32 HP:0001321
25 microphthalmia 32 HP:0000568
26 glaucoma 32 HP:0000501
27 retinal dysplasia 32 HP:0007973
28 buphthalmos 32 HP:0000557
29 intellectual disability, profound 32 HP:0002187
30 midface retrusion 32 HP:0011800
31 pachygyria 32 HP:0001302
32 polymicrogyria 32 HP:0002126
33 aplasia/hypoplasia of the corpus callosum 32 HP:0007370
34 muscular dystrophy 32 HP:0003560
35 severe muscular hypotonia 32 HP:0006829
36 generalized hypotonia 32 HP:0001290
37 cerebellar dysplasia 32 HP:0007033
38 coloboma 32 HP:0000589
39 retinal degeneration 32 HP:0000546
40 cerebellar cyst 32 HP:0002350
41 type ii lissencephaly 32 HP:0007260
42 retinal atrophy 32 HP:0001105
43 hypoplasia of the brainstem 32 HP:0002365
44 short nasal bridge 32 HP:0003194
45 uncontrolled eye movements 32 HP:0007738
46 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
47 undetectable electroretinogram 32 HP:0000550
48 hypoplasia of the retina 32 HP:0007770
49 enlarged flash visual evoked potentials 32 HP:0008045

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:


seizures

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

41
Eye, Brain, Retina, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 POMGNT1 p.Glu223Lys VAR_023101 rs386834036
2 POMGNT1 p.Cys269Tyr VAR_023103 rs386834037
3 POMGNT1 p.Arg311Gln VAR_023104 rs193919336
4 POMGNT1 p.Trp425Ser VAR_023105 rs386834011
5 POMGNT1 p.Arg442Cys VAR_023106 rs28940869
6 POMGNT1 p.Cys490Tyr VAR_023107 rs267606960
7 POMGNT1 p.Pro493Arg VAR_023108 rs28942068
8 POMGNT1 p.Ser550Asn VAR_023109 rs193919335
9 POMGNT1 p.Thr176Pro VAR_065021 rs386834030
10 POMGNT1 p.Ser198Arg VAR_065022 rs386834032
11 POMGNT1 p.Arg367His VAR_065023 rs762972459
12 POMGNT1 p.Asp427His VAR_065024

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

6 (show top 50) (show all 200)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Likely pathogenic rs193919335 GRCh37 Chromosome 1, 46656145: 46656145
2 POMGNT1 NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn) single nucleotide variant Likely pathogenic rs193919335 GRCh38 Chromosome 1, 46190473: 46190473
3 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh38 Chromosome 1, 46189920: 46189920
4 POMGNT1 NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs) deletion Pathogenic/Likely pathogenic rs386834017 GRCh37 Chromosome 1, 46655592: 46655592
5 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
6 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940869 GRCh38 Chromosome 1, 46192397: 46192397
7 POMGNT1 NM_017739.3(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
8 POMGNT1 NM_017739.3(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Likely pathogenic rs193919336 GRCh37 Chromosome 1, 46659545: 46659545
9 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh37 Chromosome 1, 46655645: 46655645
10 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh38 Chromosome 1, 46189973: 46189973
11 POMGNT1 NM_017739.3(POMGNT1): c.1814G> C (p.Arg605Pro) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
12 POMGNT1 NM_017739.3(POMGNT1): c.1814G> C (p.Arg605Pro) single nucleotide variant Likely pathogenic rs267606962 GRCh38 Chromosome 1, 46189539: 46189539
13 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
14 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Likely pathogenic rs386834035 GRCh37 Chromosome 1, 46660515: 46660515
15 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
16 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh38 Chromosome 1, 46192168: 46192168
17 POMGNT1 NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834010 GRCh37 Chromosome 1, 46660031: 46660031
18 POMGNT1 NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His) single nucleotide variant Conflicting interpretations of pathogenicity rs386834010 GRCh38 Chromosome 1, 46194359: 46194359
19 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
20 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh38 Chromosome 1, 46192528: 46192528
21 POMGNT1 NM_017739.3(POMGNT1): c.1285-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs386834012 GRCh37 Chromosome 1, 46658110: 46658110
22 POMGNT1 NM_017739.3(POMGNT1): c.1285-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs386834012 GRCh38 Chromosome 1, 46192438: 46192438
23 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
24 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh38 Chromosome 1, 46192402: 46192402
25 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
26 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh38 Chromosome 1, 46192379: 46192379
27 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
28 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh38 Chromosome 1, 46192367: 46192371
29 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
30 POMGNT1 NM_017739.3(POMGNT1): c.447delT (p.Phe149Leufs) deletion Likely pathogenic rs386834029 GRCh37 Chromosome 1, 46661570: 46661570
31 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
32 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
33 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
34 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
35 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh38 Chromosome 1, 46190786: 46190786
36 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
37 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh38 Chromosome 1, 46189901: 46189901
38 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542
39 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh38 Chromosome 1, 46189870: 46189870
40 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh37 Chromosome 1, 46655524: 46655524
41 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh38 Chromosome 1, 46189852: 46189852
42 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
43 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh38 Chromosome 1, 46189539: 46189539
44 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh37 Chromosome 1, 46655161: 46655161
45 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh38 Chromosome 1, 46189489: 46189489
46 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Likely pathogenic rs386834022 GRCh37 Chromosome 1, 46655149: 46655149
47 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Likely pathogenic rs386834022 GRCh38 Chromosome 1, 46189477: 46189477
48 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
49 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh38 Chromosome 1, 46189457: 46189457
50 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs386834024 GRCh37 Chromosome 1, 46655129: 46655129

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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