MDDGB3
MCID: MSC046
MIFTS: 35

Muscular Dystrophy-Dystroglycanopathy , Type B, 3 (MDDGB3)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 3 57 72 13 70
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B3 29 6
Mddgb3 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B3 72
Muscular Dystrophy, Congenital, Pomgnt1-Related 57
Muscular Dystrophy Congenital Pomgnt1-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated patients have been reported


HPO:

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


Classifications:



External Ids:

OMIM® 57 613151
OMIM Phenotypic Series 57 PS613155
MeSH 44 D009136
MedGen 41 C3150412
UMLS 70 C3150412

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

OMIM® : 57 MDDGB3 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (613151) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 3, also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b3, is related to retinitis pigmentosa 76 and congenital muscular dystrophy-dystroglycanopathy type a. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye, pons and brain, and related phenotypes are intellectual disability and microcephaly

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 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 B, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 76 9.8 TSPAN1 POMGNT1
2 congenital muscular dystrophy-dystroglycanopathy type a 9.8 TSPAN1 POMGNT1
3 congenital muscular dystrophy-dystroglycanopathy type a3 9.8 TSPAN1 POMGNT1
4 muscular dystrophy-dystroglycanopathy 9.7 TSPAN1 POMGNT1
5 muscular dystrophy 9.7 TSPAN1 POMGNT1
6 cobblestone lissencephaly 9.7 TSPAN1 POMGNT1
7 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 TSPAN1 POMGNT1
8 muscle eye brain disease 9.7 TSPAN1 POMGNT1
9 autosomal recessive limb-girdle muscular dystrophy 9.6 TSPAN1 POMGNT1
10 muscular dystrophy-dystroglycanopathy , type a, 3 9.6 TSPAN1 POMGNT1
11 walker-warburg syndrome 9.5 TSPAN1 POMGNT1

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



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

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

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microcephaly 31 HP:0000252
3 optic atrophy 31 HP:0000648
4 strabismus 31 HP:0000486
5 myopia 31 HP:0000545
6 elevated serum creatine kinase 31 HP:0003236
7 motor delay 31 HP:0001270
8 ventriculomegaly 31 HP:0002119
9 cerebellar hypoplasia 31 HP:0001321
10 muscular dystrophy 31 HP:0003560
11 congenital muscular dystrophy 31 HP:0003741
12 hypoplasia of the pons 31 HP:0012110
13 cerebellar cyst 31 HP:0002350

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cerebellar hypoplasia
delayed motor development
mental retardation
ventricular dilatation
pontine hypoplasia
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
optic atrophy
strabismus
myopia

Muscle Soft Tissue:
muscular dystrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Clinical features from OMIM®:

613151 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 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 B, 3

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

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

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

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B3 29 POMGNT1

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

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

40
Eye, Pons, Brain, Retina

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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

(show all 28)
# 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
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 6
28832562 2017
4
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 6
28688748 2017
5
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 6
28424332 2017
6
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
7
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. 6
27391550 2016
8
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. 6
26908613 2016
9
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 6
24731844 2014
10
Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. 6
24282183 2014
11
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 6
23689641 2013
12
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 6
23326386 2013
13
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 6
22554691 2012
14
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
15
Novel retinal findings in an infant with muscle-eye-brain disease. 6
25390965 2012
16
Reactive gliosis of astrocytes and Müller glial cells in retina of POMGnT1-deficient mice. 6
21447391 2011
17
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 6
21361872 2011
18
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 6
20816175 2010
19
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 6
19679478 2009
20
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 6
18330676 2008
21
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 6
18195152 2008
22
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 6
17906881 2007
23
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6
17878207 2007
24
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
25
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 6
17030669 2006
26
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 6
15466003 2004
27
POMGnT1 gene alterations in a family with neurological abnormalities. 6
15236414 2004
28
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. 6
11709191 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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

6 (show top 50) (show all 248)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1335del (p.Met446fs) Deletion Pathogenic 538743 rs1553163206 GRCh37: 1:46658058-46658058
GRCh38: 1:46192386-46192386
2 POMGNT1 NM_017739.3(POMGNT1):c.10del (p.Trp4fs) Deletion Pathogenic 642652 rs1571672866 GRCh37: 1:46663484-46663484
GRCh38: 1:46197812-46197812
3 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.511C>T (p.Arg171Ter) SNV Pathogenic 648374 rs1424631447 GRCh37: 1:46661506-46661506
GRCh38: 1:46195834-46195834
4 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1001_1002del (p.Thr334fs) Deletion Pathogenic 651215 rs1571659306 GRCh37: 1:46659260-46659261
GRCh38: 1:46193588-46193589
5 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1462C>T (p.Arg488Ter) SNV Pathogenic 665448 rs727504103 GRCh37: 1:46657847-46657847
GRCh38: 1:46192175-46192175
6 POMGNT1 , TSPAN1 NC_000001.11:g.(?_46190463)_(46190794_?)del Deletion Pathogenic 644271 GRCh37: 1:46656135-46656466
GRCh38: 1:46190463-46190794
7 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) SNV Pathogenic 3998 rs267606962 GRCh37: 1:46655211-46655211
GRCh38: 1:46189539-46189539
8 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.652+1G>A SNV Pathogenic 3999 rs386834035 GRCh37: 1:46660515-46660515
GRCh38: 1:46194843-46194843
9 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) SNV Pathogenic 56586 rs386834018 GRCh37: 1:46655573-46655573
GRCh38: 1:46189901-46189901
10 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) SNV Pathogenic 56587 rs386834019 GRCh37: 1:46655542-46655542
GRCh38: 1:46189870-46189870
11 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>A SNV Pathogenic 56592 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
12 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) SNV Pathogenic 56604 rs386834034 GRCh37: 1:46660525-46660525
GRCh38: 1:46194853-46194853
13 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) SNV Pathogenic 56610 rs386834039 GRCh37: 1:46659546-46659546
GRCh38: 1:46193874-46193874
14 POMGNT1 NM_017739.4(POMGNT1):c.36del (p.Phe13fs) Deletion Pathogenic 845990 GRCh37: 1:46663458-46663458
GRCh38: 1:46197786-46197786
15 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) SNV Pathogenic 56604 rs386834034 GRCh37: 1:46660525-46660525
GRCh38: 1:46194853-46194853
16 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) Deletion Pathogenic 862774 GRCh37: 1:46656440-46656440
GRCh38: 1:46190768-46190768
17 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) Microsatellite Pathogenic 550363 rs1553163360 GRCh37: 1:46658982-46658983
GRCh38: 1:46193310-46193311
18 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
19 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) SNV Pathogenic 265399 rs190057175 GRCh37: 1:46660532-46660532
GRCh38: 1:46194860-46194860
20 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) SNV Pathogenic 970328 GRCh37: 1:46658192-46658192
GRCh38: 1:46192520-46192520
21 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
22 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
23 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1895+1G>T SNV Pathogenic 56593 rs386834024 GRCh37: 1:46655129-46655129
GRCh38: 1:46189457-46189457
24 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
25 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
26 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) SNV Pathogenic 4000 rs267606960 GRCh37: 1:46657840-46657840
GRCh38: 1:46192168-46192168
27 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1539+1G>A SNV Pathogenic 56582 rs138642840 GRCh37: 1:46657769-46657769
GRCh38: 1:46192097-46192097
28 POMGNT1 NM_017739.4(POMGNT1):c.121-67_265del Deletion Likely pathogenic 963060 GRCh37: 1:46662492-46662823
GRCh38: 1:46196820-46197151
29 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) SNV Likely pathogenic 265399 rs190057175 GRCh37: 1:46660532-46660532
GRCh38: 1:46194860-46194860
30 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1153-1G>C SNV Likely pathogenic 955510 GRCh37: 1:46658631-46658631
GRCh38: 1:46192959-46192959
31 POMGNT1 NM_017739.4(POMGNT1):c.120+2T>A SNV Likely pathogenic 956310 GRCh37: 1:46663372-46663372
GRCh38: 1:46197700-46197700
32 POMGNT1 , TSPAN1 NM_017739.4(POMGNT1):c.1285-2A>T SNV Likely pathogenic 960992 GRCh37: 1:46658110-46658110
GRCh38: 1:46192438-46192438
33 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) SNV Likely pathogenic 56610 rs386834039 GRCh37: 1:46659546-46659546
GRCh38: 1:46193874-46193874
34 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) SNV Likely pathogenic 3992 rs28940869 GRCh37: 1:46658069-46658069
GRCh38: 1:46192397-46192397
35 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) SNV Likely pathogenic 3998 rs267606962 GRCh37: 1:46655211-46655211
GRCh38: 1:46189539-46189539
36 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.652+1G>T SNV Likely pathogenic 642934 rs386834035 GRCh37: 1:46660515-46660515
GRCh38: 1:46194843-46194843
37 POMGNT1 , TSPAN1 NC_000001.11:g.(?_46188699)_(46190009_?)del Deletion Likely pathogenic 583747 GRCh37: 1:46654371-46655681
GRCh38: 1:46188699-46190009
38 POMGNT1 , TSPAN1 NC_000001.10:g.(?_46656135)_(46656466_?)dup Duplication Likely pathogenic 658979 GRCh37: 1:46656135-46656466
GRCh38: 1:46190463-46190794
39 POMGNT1 NM_017739.3(POMGNT1):c.184C>T (p.Arg62Trp) SNV Uncertain significance 661000 rs1352412667 GRCh37: 1:46662693-46662693
GRCh38: 1:46197021-46197021
40 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1919C>T (p.Thr640Ile) SNV Uncertain significance 661391 rs748799436 GRCh37: 1:46655006-46655006
GRCh38: 1:46189334-46189334
41 POMGNT1 NM_017739.3(POMGNT1):c.7G>T (p.Asp3Tyr) SNV Uncertain significance 662078 rs201637813 GRCh37: 1:46663487-46663487
GRCh38: 1:46197815-46197815
42 POMGNT1 NM_017739.3(POMGNT1):c.52A>G (p.Lys18Glu) SNV Uncertain significance 538745 rs1553164287 GRCh37: 1:46663442-46663442
GRCh38: 1:46197770-46197770
43 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.355-3T>G SNV Uncertain significance 548454 rs1553163972 GRCh37: 1:46661752-46661752
GRCh38: 1:46196080-46196080
44 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.908C>T (p.Pro303Leu) SNV Uncertain significance 565327 rs753453050 GRCh37: 1:46659569-46659569
GRCh38: 1:46193897-46193897
45 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1091A>G (p.Lys364Arg) SNV Uncertain significance 565612 rs1557673272 GRCh37: 1:46658996-46658996
GRCh38: 1:46193324-46193324
46 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.419C>T (p.Thr140Met) SNV Uncertain significance 569569 rs766157232 GRCh37: 1:46661685-46661685
GRCh38: 1:46196013-46196013
47 POMGNT1 , TSPAN1 NM_001243766.1(POMGNT1):c.1848_1850GAA[2] (p.Lys618del) Microsatellite Uncertain significance 579820 rs1435566919 GRCh37: 1:46655169-46655171
GRCh38: 1:46189497-46189499
48 POMGNT1 , TSPAN1 NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) SNV Uncertain significance 471404 rs200143169 GRCh37: 1:46655145-46655145
GRCh38: 1:46189473-46189473
49 POMGNT1 and overlap with 1 gene(s) NC_000001.10:g.(?_46654371)_(46663513_?)dup Duplication Uncertain significance 471397 GRCh37: 1:46654371-46663513
GRCh38: 1:46188699-46197841
50 POMGNT1 NM_017739.3(POMGNT1):c.251G>T (p.Arg84Leu) SNV Uncertain significance 471405 rs373866304 GRCh37: 1:46662506-46662506
GRCh38: 1:46196834-46196834

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

72
# Symbol AA change Variation ID SNP ID
1 POMGNT1 p.Arg311Gln VAR_023104 rs193919336
2 POMGNT1 p.Cys490Tyr VAR_023107 rs267606960
3 POMGNT1 p.Arg605Pro VAR_065026 rs267606962

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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