MDDGA3
MCID: MSC045
MIFTS: 37

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

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

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 73 12 71
Muscular Dystrophy-Dystroglycanopathy , Type A3 28 5
Mddga3 57 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 73
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related 57
Dystrophy, Muscular, Dystroglycanopathy , Type A3 38
Muscle-Eye-Brain Disease Pomgnt1-Related 73
Walker-Warburg Syndrome Pomgnt1-Related 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
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


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 08-Dec-2022)

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 pons, and related phenotypes are seizure and hydrocephalus

UniProtKB/Swiss-Prot: 73 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, intellectual disability, 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 Muscular Dystrophy-Dystroglycanopathy Type B

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 31.0 TSPAN1 POMGNT1
2 muscle eye brain disease 31.0 TSPAN1 POMGNT1
3 muscular dystrophy-dystroglycanopathy , type b, 3 30.0 TSPAN1 POMGNT1
4 muscular dystrophy-dystroglycanopathy 30.0 TSPAN1 POMGNT1
5 muscular dystrophy-dystroglycanopathy , type c, 3 29.9 TSPAN1 POMGNT1
6 hydrocephalus, congenital, 1 10.3
7 muscular dystrophy-dystroglycanopathy , type a, 1 10.3
8 muscular dystrophy-dystroglycanopathy , type b, 1 10.3
9 muscular dystrophy, congenital, lmna-related 10.3
10 lissencephaly 10.3
11 polymicrogyria 10.3
12 myopia 10.3
13 muscular dystrophy 10.3
14 qualitative or quantitative defects of alpha-dystroglycan 10.3
15 retinitis pigmentosa 76 9.7 TSPAN1 POMGNT1
16 congenital muscular dystrophy-dystroglycanopathy type a 9.7 TSPAN1 POMGNT1
17 autosomal recessive limb-girdle muscular dystrophy 9.6 TSPAN1 POMGNT1
18 congenital nervous system abnormality 9.6 TSPAN1 POMGNT1
19 nervous system disease 9.5 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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
strabismus
myopia
glaucoma
microphthalmia
more
Head And Neck Head:
microcephaly

Head And Neck Nose:
short nasal bridge

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
hydrocephalus
polymicrogyria
cerebellar hypoplasia
pachygyria
cerebellar dysplasia
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 08-Dec-2022)

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

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 28 POMGNT1

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

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

MalaCards : Eye, Brain, Pons, Retina

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

(show all 27)
# Title Authors PMID Year
1
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 57 5
19299310 2009
2
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 57 5
17878207 2007
3
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 57 5
17030669 2006
4
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 57 5
15466003 2004
5
POMGnT1 gene alterations in a family with neurological abnormalities. 57 5
15236414 2004
6
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. 57 5
12588800 2003
7
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 57 5
11709191 2001
8
Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. 62 5
30961548 2019
9
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. 5
33200426 2021
10
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 5
28688748 2017
11
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 5
26908613 2016
12
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 5
23894383 2013
13
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 5
22554691 2012
14
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 5
22323514 2012
15
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 5
21361872 2011
16
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 57
19067344 2008
17
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 5
17869517 2008
18
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 5
17906881 2007
19
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. 57
12140558 2002
20
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 57
11320179 2001
21
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. 57
9915951 1999
22
Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. 57
1491751 1992
23
Muscle-eye-brain disease and Walker-Warburg syndrome. 57
2363444 1990
24
Muscle-eye-brain disease (MEB) 57
2751061 1989
25
Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. 57
581135 1978
26
Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). 62
31580529 2019
27
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 62
29555514 2018

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

5 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1413+1G>C SNV Pathogenic
211939 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
2 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1895+1G>A SNV Pathogenic
56592 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
3 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1539+1G>A SNV Pathogenic
56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
4 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1413+1G>T SNV Pathogenic
3986 rs587777821 GRCh37: 1:46657979-46657979
GRCh38: 1:46192307-46192307
5 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn) SNV Pathogenic
3988 rs193919335 GRCh37: 1:46656145-46656145
GRCh38: 1:46190473-46190473
6 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1719del (p.His573fs) DEL Pathogenic
3989 rs386834017 GRCh37: 1:46655592-46655592
GRCh38: 1:46189920-46189920
7 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg) SNV Pathogenic
3990 rs28942068 GRCh37: 1:46657831-46657831
GRCh38: 1:46192159-46192159
8 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Pathogenic
3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
9 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) SNV Pathogenic
3993 rs193919336 GRCh37: 1:46659545-46659545
GRCh38: 1:46193873-46193873
10 POMGNT1 NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) SNV Pathogenic
3994 rs193919337 GRCh37: 1:46662690-46662690
GRCh38: 1:46197018-46197018
11 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1832del (p.Leu611fs) DEL Pathogenic
3995 rs587777822 GRCh37: 1:46655193-46655193
GRCh38: 1:46189521-46189521
12 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter) SNV Pathogenic
3996 rs267606961 GRCh37: 1:46657884-46657884
GRCh38: 1:46192212-46192212
13 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1876del (p.Val626fs) DEL Pathogenic
56591 rs386834022 GRCh37: 1:46655149-46655149
GRCh38: 1:46189477-46189477
14 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1895+1G>T SNV Pathogenic
56593 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
15 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) SNV Likely Pathogenic
558512 rs375431575 GRCh37: 1:46661719-46661719
GRCh38: 1:46196047-46196047
16 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter) SNV Likely Pathogenic
1724900 GRCh37: 1:46660274-46660274
GRCh38: 1:46194602-46194602
17 POMGNT1 NM_017739.4(POMGNT1):c.137del (p.Phe46fs) DEL Likely Pathogenic
1724968 GRCh37: 1:46662740-46662740
GRCh38: 1:46197068-46197068
18 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter) SNV Likely Pathogenic
1725088 GRCh37: 1:46658881-46658881
GRCh38: 1:46193209-46193209
19 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs) DUP Likely Pathogenic
1725128 GRCh37: 1:46659254-46659255
GRCh38: 1:46193582-46193583
20 POMGNT1 NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs) DEL Likely Pathogenic
1725210 GRCh37: 1:46663387-46663388
GRCh38: 1:46197715-46197716
21 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs) DEL Likely Pathogenic
1725260 GRCh37: 1:46658088-46658089
GRCh38: 1:46192416-46192417
22 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1557del (p.Lys519fs) DEL Likely Pathogenic
1725374 GRCh37: 1:46656439-46656439
GRCh38: 1:46190767-46190767
23 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs) INDEL Likely Pathogenic
1725447 GRCh37: 1:46660295-46660297
GRCh38: 1:46194623-46194625
24 POMGNT1 NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter) SNV Likely Pathogenic
1725618 GRCh37: 1:46662651-46662651
GRCh38: 1:46196979-46196979
25 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.732del (p.Pro245fs) DEL Likely Pathogenic
1725652 GRCh37: 1:46660244-46660244
GRCh38: 1:46194572-46194572
26 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs) DEL Likely Pathogenic
1724476 GRCh37: 1:46660587-46660588
GRCh38: 1:46194915-46194916
27 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter) SNV Likely Pathogenic
1726418 GRCh37: 1:46661559-46661559
GRCh38: 1:46195887-46195887
28 POMGNT1 NM_017739.4(POMGNT1):c.94del (p.Gln32fs) DEL Likely Pathogenic
1726555 GRCh37: 1:46663400-46663400
GRCh38: 1:46197728-46197728
29 POMGNT1 NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter) SNV Likely Pathogenic
1726608 GRCh37: 1:46662424-46662424
GRCh38: 1:46196752-46196752
30 POMGNT1 NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs) DEL Likely Pathogenic
1724200 GRCh37: 1:46662668-46662669
GRCh38: 1:46196996-46196997
31 POMGNT1 NM_017739.4(POMGNT1):c.307del (p.Val103fs) DEL Likely Pathogenic
1725918 GRCh37: 1:46662450-46662450
GRCh38: 1:46196778-46196778
32 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs) INDEL Likely Pathogenic
1724880 GRCh37: 1:46657862-46657864
GRCh38: 1:46192190-46192192
33 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) SNV Likely Pathogenic
872288 rs150877512 GRCh37: 1:46658068-46658068
GRCh38: 1:46192396-46192396
34 POMGNT1 NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg) SNV Likely Pathogenic
1676834 GRCh37: 1:46662441-46662441
GRCh38: 1:46196769-46196769
35 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val) SNV Likely Pathogenic
1526402 GRCh37: 1:46658107-46658107
GRCh38: 1:46192435-46192435
36 POMGNT1 NM_017739.4(POMGNT1):c.235+2T>G SNV Likely Pathogenic
1685411 GRCh37: 1:46662640-46662640
GRCh38: 1:46196968-46196968
37 POMGNT1 NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs) DUP Likely Pathogenic
1683691 GRCh37: 1:46662494-46662495
GRCh38: 1:46196822-46196823
38 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) SNV Conflicting Interpretations Of Pathogenicity
997802 rs762972459 GRCh37: 1:46658987-46658987
GRCh38: 1:46193315-46193315
39 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) SNV Uncertain Significance
1699043 GRCh37: 1:46656146-46656146
GRCh38: 1:46190474-46190474
40 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) SNV Uncertain Significance
436365 rs776165339 GRCh37: 1:46661577-46661577
GRCh38: 1:46195905-46195905
41 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) SNV Uncertain Significance
1209698 GRCh37: 1:46660032-46660032
GRCh38: 1:46194360-46194360
42 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) SNV Uncertain Significance
281057 rs17102066 GRCh37: 1:46657799-46657799
GRCh38: 1:46192127-46192127
43 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) SNV Uncertain Significance
162588 rs142485035 GRCh37: 1:46659986-46659986
GRCh38: 1:46194314-46194314
44 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) SNV Uncertain Significance
254270 rs200863680 GRCh37: 1:46659965-46659965
GRCh38: 1:46194293-46194293
45 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) SNV Uncertain Significance
502236 rs200730202 GRCh37: 1:46656400-46656400
GRCh38: 1:46190728-46190728
46 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) SNV Uncertain Significance
658684 rs556069604 GRCh37: 1:46655590-46655590
GRCh38: 1:46189918-46189918
47 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) SNV Uncertain Significance
1030589 rs371741722 GRCh37: 1:46655199-46655199
GRCh38: 1:46189527-46189527
48 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg) SNV Uncertain Significance
1030590 rs1658069732 GRCh37: 1:46660273-46660273
GRCh38: 1:46194601-46194601
49 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) SNV Uncertain Significance
1209697 GRCh37: 1:46660254-46660254
GRCh38: 1:46194582-46194582
50 POMGNT1, TSPAN1 NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) SNV Uncertain Significance
1209699 GRCh37: 1:46659575-46659575
GRCh38: 1:46193903-46193903

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

73 (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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....