MDDGA3
MCID: MSC045
MIFTS: 38

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 72 13 6 70
Muscular Dystrophy-Dystroglycanopathy , Type A3 29 6
Mddga3 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related 57
Dystrophy, Muscular, Dystroglycanopathy , Type A3 39
Muscle-Eye-Brain Disease Pomgnt1-Related 72
Walker-Warburg Syndrome Pomgnt1-Related 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
two patients with a wws phenotype have been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 3:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


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) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 3, also known as muscular dystrophy-dystroglycanopathy , type a3, is related to congenital muscular dystrophy-dystroglycanopathy type a3 and 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 spasticity and eeg abnormality

UniProtKB/Swiss-Prot : 72 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
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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a3 31.1 TSPAN1 POMGNT1
2 muscle eye brain disease 30.9 TSPAN1 POMGNT1
3 muscular dystrophy-dystroglycanopathy 30.0 TSPAN1 POMGNT1
4 muscular dystrophy 30.0 TSPAN1 POMGNT1
5 walker-warburg syndrome 29.6 TSPAN1 POMGNT1
6 muscular dystrophy, congenital, lmna-related 10.3
7 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
8 lissencephaly 10.3
9 autosomal recessive disease 10.3
10 myopia 10.3
11 polymicrogyria 10.3
12 congenital muscular dystrophy due to dystroglycanopathy 10.3
13 qualitative or quantitative defects of alpha-dystroglycan 10.3
14 retinitis pigmentosa 76 9.8 TSPAN1 POMGNT1
15 congenital muscular dystrophy-dystroglycanopathy type a 9.8 TSPAN1 POMGNT1
16 cobblestone lissencephaly 9.7 TSPAN1 POMGNT1
17 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 TSPAN1 POMGNT1
18 muscular dystrophy-dystroglycanopathy , type b, 3 9.6 TSPAN1 POMGNT1
19 autosomal recessive limb-girdle muscular dystrophy 9.6 TSPAN1 POMGNT1

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type a, 3

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

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

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

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Nose:
short nasal bridge

Laboratory Abnormalities:
increased serum creatine kinase

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

Head And Neck Face:
midface hypoplasia
micrognathia, mild

Head And Neck Mouth:
everted lower lip

Clinical features from OMIM®:

253280 (Updated 05-Apr-2021)

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


seizures

GenomeRNAi Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 8.62 POMGNT1 TSPAN1

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

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A3 29 POMGNT1

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

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

40
Eye, Brain, Retina, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

(show all 39)
# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
2
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6 57
19067344 2008
3
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
4
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 57 6
17030669 2006
5
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6 57
15466003 2004
6
POMGnT1 gene alterations in a family with neurological abnormalities. 57 6
15236414 2004
7
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 6 57
12588800 2003
8
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 57 6
11709191 2001
9
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 6
30961548 2019
10
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6
28688748 2017
11
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. 6
27493216 2016
12
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
13
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 6
24731844 2014
14
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 6
23689641 2013
15
Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology. 6
23453855 2013
16
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 6
23326386 2013
17
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 6
22554691 2012
18
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6
22522420 2012
19
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
20
Novel retinal findings in an infant with muscle-eye-brain disease. 6
25390965 2012
21
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 6
21361872 2011
22
Muscle-Eye-Brain disease. 6
20215985 2010
23
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 6
19679478 2009
24
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 6
18330676 2008
25
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 6
17906881 2007
26
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
27
Prenatal diagnosis of muscle-eye-brain disease. 6
17154333 2007
28
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. 6
16427280 2006
29
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. 6
12849864 2003
30
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 6
12788071 2003
31
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. 57
12140558 2002
32
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 57
11320179 2001
33
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. 57
9915951 1999
34
Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. 57
1491751 1992
35
Muscle-eye-brain disease and Walker-Warburg syndrome. 57
2363444 1990
36
Muscle-eye-brain disease (MEB) 57
2751061 1989
37
Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. 57
581135 1978
38
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 61
31580529 2019
39
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 61
29555514 2018

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

6 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT1 , TSPAN1 NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) Microsatellite Pathogenic 56581 rs386834015 GRCh37: 1:46658039-46658043
GRCh38: 1:46192367-46192371
2 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>T SNV Pathogenic 56583 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
3 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1413+1G>T SNV Pathogenic 3986 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
4 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1413+1G>A SNV Pathogenic 3987 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
5 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg) SNV Pathogenic 3990 rs28942068 GRCh37: 1:46657831-46657831
GRCh38: 1:46192159-46192159
6 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1832del (p.Leu611fs) Deletion Pathogenic 3995 rs587777822 GRCh37: 1:46655193-46655193
GRCh38: 1:46189521-46189521
7 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter) SNV Pathogenic 3996 rs267606961 GRCh37: 1:46657884-46657884
GRCh38: 1:46192212-46192212
8 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) SNV Pathogenic 3988 rs193919335 GRCh37: 1:46656145-46656145
GRCh38: 1:46190473-46190473
9 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1719del (p.His573fs) Deletion Pathogenic 3989 rs386834017 GRCh37: 1:46655592-46655592
GRCh38: 1:46189920-46189920
10 POMGNT1 , TSPAN1 NM_001243766.1(POMGNT1):c.1869+7del Deletion Pathogenic 56591 rs386834022 GRCh37: 1:46655149-46655149
GRCh38: 1:46189477-46189477
11 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) SNV Pathogenic 3993 rs193919336 GRCh37: 1:46659545-46659545
GRCh38: 1:46193873-46193873
12 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) SNV Pathogenic 551169 rs1048865247 GRCh37: 1:46661559-46661559
GRCh38: 1:46195887-46195887
13 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1413+1G>C SNV Pathogenic 211939 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
14 POMGNT1 NM_001290130.1(POMGNT1):c.-243C>T SNV Pathogenic 3994 rs193919337 GRCh37: 1:46662690-46662690
GRCh38: 1:46197018-46197018
15 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
16 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
17 POMGNT1 NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter) SNV Pathogenic 984973 GRCh37: 1:46662453-46662453
GRCh38: 1:46196781-46196781
18 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
19 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
20 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>T SNV Pathogenic 56593 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
21 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) SNV Pathogenic/Likely pathogenic 56610 rs386834039 GRCh37: 1:46659546-46659546
GRCh38: 1:46193874-46193874
22 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) SNV Pathogenic/Likely pathogenic 265399 rs190057175 GRCh37: 1:46660532-46660532
GRCh38: 1:46194860-46194860
23 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>T SNV Pathogenic/Likely pathogenic 56593 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
24 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Likely pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
25 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) Microsatellite Likely pathogenic 550363 rs1553163360 GRCh37: 1:46658982-46658983
GRCh38: 1:46193310-46193311
26 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1814G>A SNV Likely pathogenic 56589 rs267606962 GRCh37: 1:46655211-46655211
GRCh38: 1:46189539-46189539
27 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) SNV Likely pathogenic 56604 rs386834034 GRCh37: 1:46660525-46660525
GRCh38: 1:46194853-46194853
28 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1285-2A>G SNV Likely pathogenic 56578 rs386834012 GRCh37: 1:46658110-46658110
GRCh38: 1:46192438-46192438
29 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>A SNV Likely pathogenic 56592 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
30 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1268C>T (p.Ser423Phe) SNV Likely pathogenic 801486 rs1571655768 GRCh37: 1:46658206-46658206
GRCh38: 1:46192534-46192534
31 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1152+2T>C SNV Likely pathogenic 558053 rs1553163335 GRCh37: 1:46658844-46658844
GRCh38: 1:46193172-46193172
32 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.652+1G>T SNV Likely pathogenic 642934 rs386834035 GRCh37: 1:46660515-46660515
GRCh38: 1:46194843-46194843
33 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.653-2A>C SNV Likely pathogenic 551232 rs1553163721 GRCh37: 1:46660325-46660325
GRCh38: 1:46194653-46194653
34 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.880-1G>A SNV Likely pathogenic 552342 rs1317832573 GRCh37: 1:46659598-46659598
GRCh38: 1:46193926-46193926
35 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1786-1G>A SNV Likely pathogenic 552405 rs1457667479 GRCh37: 1:46655240-46655240
GRCh38: 1:46189568-46189568
36 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) SNV Likely pathogenic 552466 rs1553162663 GRCh37: 1:46655173-46655173
GRCh38: 1:46189501-46189501
37 POMGNT1 NM_001290130.1(POMGNT1):c.-197_-196del Deletion Likely pathogenic 552921 rs1553164129 GRCh37: 1:46662643-46662644
GRCh38: 1:46196971-46196972
38 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1604+1G>A SNV Likely pathogenic 553006 rs1553162873 GRCh37: 1:46656391-46656391
GRCh38: 1:46190719-46190719
39 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) SNV Likely pathogenic 3993 rs193919336 GRCh37: 1:46659545-46659545
GRCh38: 1:46193873-46193873
40 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) SNV Likely pathogenic 56577 rs386834011 GRCh37: 1:46658200-46658200
GRCh38: 1:46192528-46192528
41 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) SNV Likely pathogenic 56579 rs386834013 GRCh37: 1:46658074-46658074
GRCh38: 1:46192402-46192402
42 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) SNV Likely pathogenic 56580 rs386834014 GRCh37: 1:46658051-46658051
GRCh38: 1:46192379-46192379
43 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1del Deletion Likely pathogenic 550664 rs1553163077 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
44 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1212-1G>C SNV Likely pathogenic 550784 rs1553163254 GRCh37: 1:46658263-46658263
GRCh38: 1:46192591-46192591
45 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1604+2T>C SNV Likely pathogenic 550917 rs1553162872 GRCh37: 1:46656390-46656390
GRCh38: 1:46190718-46190718
46 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1649+2T>G SNV Likely pathogenic 553347 rs1268759044 GRCh37: 1:46656143-46656143
GRCh38: 1:46190471-46190471
47 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1605-1G>C SNV Likely pathogenic 554879 rs770219373 GRCh37: 1:46656190-46656190
GRCh38: 1:46190518-46190518
48 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) SNV Likely pathogenic 3998 rs267606962 GRCh37: 1:46655211-46655211
GRCh38: 1:46189539-46189539
49 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) Deletion Likely pathogenic 556807 rs1553162601 GRCh37: 1:46655020-46655020
GRCh38: 1:46189348-46189348
50 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>C SNV Likely pathogenic 557018 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457

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

72 (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

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 3.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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29 GTR
30 HMDB
31 HPO
32 ICD10
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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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