MCID: MSC045
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal 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 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 brain, eye 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 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

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 11.6

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 48)
# 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 ventriculomegaly 32 HP:0002119
23 cerebellar hypoplasia 32 HP:0001321
24 microphthalmia 32 HP:0000568
25 glaucoma 32 HP:0000501
26 retinal dysplasia 32 HP:0007973
27 buphthalmos 32 HP:0000557
28 intellectual disability, profound 32 HP:0002187
29 midface retrusion 32 HP:0011800
30 pachygyria 32 HP:0001302
31 polymicrogyria 32 HP:0002126
32 muscular dystrophy 32 HP:0003560
33 cerebellar dysplasia 32 HP:0007033
34 generalized hypotonia 32 HP:0001290
35 coloboma 32 HP:0000589
36 retinal degeneration 32 HP:0000546
37 severe muscular hypotonia 32 HP:0006829
38 cerebellar cyst 32 HP:0002350
39 type ii lissencephaly 32 HP:0007260
40 hypoplasia of the brainstem 32 HP:0002365
41 short nasal bridge 32 HP:0003194
42 retinal atrophy 32 HP:0001105
43 uncontrolled eye movements 32 HP:0007738
44 congenital myopia 32 HP:0008012
45 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
46 undetectable electroretinogram 32 HP:0000550
47 hypoplasia of the retina 32 HP:0007770
48 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
Brain, Eye, 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 118)
# 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 rs28940869 GRCh37 Chromosome 1, 46658069: 46658069
6 POMGNT1 NM_017739.3(POMGNT1): c.1324C> T (p.Arg442Cys) single nucleotide variant Pathogenic rs28940869 GRCh38 Chromosome 1, 46192397: 46192397
7 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193919336 GRCh38 Chromosome 1, 46193873: 46193873
8 POMGNT1 NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic/Likely pathogenic rs193919336 GRCh37 Chromosome 1, 46659545: 46659545
9 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
10 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834035 GRCh37 Chromosome 1, 46660515: 46660515
11 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
12 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh38 Chromosome 1, 46192168: 46192168
13 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh37 Chromosome 1, 46658200: 46658200
14 POMGNT1 NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser) single nucleotide variant Likely pathogenic rs386834011 GRCh38 Chromosome 1, 46192528: 46192528
15 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh37 Chromosome 1, 46658074: 46658074
16 POMGNT1 NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg) single nucleotide variant Likely pathogenic rs386834013 GRCh38 Chromosome 1, 46192402: 46192402
17 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh37 Chromosome 1, 46658051: 46658051
18 POMGNT1 NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg) single nucleotide variant Likely pathogenic rs386834014 GRCh38 Chromosome 1, 46192379: 46192379
19 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh37 Chromosome 1, 46658039: 46658043
20 POMGNT1 NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs) deletion Pathogenic rs386834015 GRCh38 Chromosome 1, 46192367: 46192371
21 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
22 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
23 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
24 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> T single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
25 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh37 Chromosome 1, 46656458: 46656458
26 POMGNT1 NM_017739.3(POMGNT1): c.1540-2A> G single nucleotide variant Likely pathogenic rs386834016 GRCh38 Chromosome 1, 46190786: 46190786
27 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh37 Chromosome 1, 46655573: 46655573
28 POMGNT1 NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter) single nucleotide variant Likely pathogenic rs386834018 GRCh38 Chromosome 1, 46189901: 46189901
29 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh37 Chromosome 1, 46655542: 46655542
30 POMGNT1 NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter) single nucleotide variant Likely pathogenic rs386834019 GRCh38 Chromosome 1, 46189870: 46189870
31 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh37 Chromosome 1, 46655524: 46655524
32 POMGNT1 NM_017739.3(POMGNT1): c.1785+2T> G single nucleotide variant Likely pathogenic rs386834020 GRCh38 Chromosome 1, 46189852: 46189852
33 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
34 POMGNT1 NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His) single nucleotide variant Likely pathogenic rs267606962 GRCh38 Chromosome 1, 46189539: 46189539
35 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh37 Chromosome 1, 46655161: 46655161
36 POMGNT1 NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs) deletion Likely pathogenic rs386834021 GRCh38 Chromosome 1, 46189489: 46189489
37 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Likely pathogenic rs386834022 GRCh37 Chromosome 1, 46655149: 46655149
38 POMGNT1 NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs) deletion Likely pathogenic rs386834022 GRCh38 Chromosome 1, 46189477: 46189477
39 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
40 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs386834024 GRCh38 Chromosome 1, 46189457: 46189457
41 POMGNT1 NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGA deletion Likely pathogenic rs386834023 GRCh37 Chromosome 1, 46655126: 46655129
42 POMGNT1 NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGA deletion Likely pathogenic rs386834023 GRCh38 Chromosome 1, 46189454: 46189457
43 POMGNT1 NM_017739.3(POMGNT1): c.1896-1G> C single nucleotide variant Likely pathogenic rs386834025 GRCh37 Chromosome 1, 46655030: 46655030
44 POMGNT1 NM_017739.3(POMGNT1): c.1896-1G> C single nucleotide variant Likely pathogenic rs386834025 GRCh38 Chromosome 1, 46189358: 46189358
45 POMGNT1 NM_017739.3(POMGNT1): c.1928delT (p.Phe643Serfs) deletion Likely pathogenic rs386834026 GRCh37 Chromosome 1, 46654997: 46654997
46 POMGNT1 NM_017739.3(POMGNT1): c.1928delT (p.Phe643Serfs) deletion Likely pathogenic rs386834026 GRCh38 Chromosome 1, 46189325: 46189325
47 POMGNT1 NM_017739.3(POMGNT1): c.25dupC (p.Leu9Profs) duplication Likely pathogenic rs386834027 GRCh37 Chromosome 1, 46663469: 46663469
48 POMGNT1 NM_017739.3(POMGNT1): c.25dupC (p.Leu9Profs) duplication Likely pathogenic rs386834027 GRCh38 Chromosome 1, 46197797: 46197797
49 POMGNT1 NM_017739.3(POMGNT1): c.351delC (p.Thr118Argfs) deletion Likely pathogenic rs386834028 GRCh37 Chromosome 1, 46662406: 46662406
50 POMGNT1 NM_017739.3(POMGNT1): c.351delC (p.Thr118Argfs) deletion Likely pathogenic rs386834028 GRCh38 Chromosome 1, 46196734: 46196734

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

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