MDDGB1
MCID: MSC048
MIFTS: 33

Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1)

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, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 1 57 72 13 6 70
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 29 6
Mddgb1 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B1 72
Muscular Dystrophy, Congenital, Pomt1-Related 57
Muscular Dystrophy Congenital Pomt1-Related 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
one patient with normal cognition has been reported


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

OMIM® : 57 Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). (613155) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 1, also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1, is related to muscular dystrophy-dystroglycanopathy , type b, 5 and muscular dystrophy-dystroglycanopathy , type b, 6, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include brain and eye, and related phenotypes are myopia and cardiomyopathy

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 5 10.9
2 muscular dystrophy-dystroglycanopathy , type b, 6 10.9
3 muscular dystrophy-dystroglycanopathy , type c, 1 10.9
4 muscular dystrophy-dystroglycanopathy , type b, 3 10.9
5 muscular dystrophy-dystroglycanopathy , type b, 4 10.9
6 muscular dystrophy-dystroglycanopathy , type b, 2 10.9
7 muscular dystrophy-dystroglycanopathy , type b, 14 10.9

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 myopia 31 occasional (7.5%) HP:0000545
2 cardiomyopathy 31 occasional (7.5%) HP:0001638
3 retinal dystrophy 31 occasional (7.5%) HP:0000556
4 developmental cataract 31 occasional (7.5%) HP:0000519
5 facial palsy 31 HP:0010628
6 macroglossia 31 HP:0000158
7 global developmental delay 31 HP:0001263
8 microcephaly 31 HP:0000252
9 flexion contracture 31 HP:0001371
10 intellectual disability, severe 31 HP:0010864
11 absent speech 31 HP:0001344
12 elevated serum creatine kinase 31 HP:0003236
13 cerebellar hypoplasia 31 HP:0001321
14 hypoplasia of the corpus callosum 31 HP:0002079
15 muscular dystrophy 31 HP:0003560
16 congenital muscular dystrophy 31 HP:0003741
17 inability to walk 31 HP:0002540
18 enlarged cisterna magna 31 HP:0002280
19 cerebellar dysplasia 31 HP:0007033
20 abnormal left ventricular function 31 HP:0005162

Symptoms via clinical synopsis from OMIM®:

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

Neurologic Central Nervous System:
cerebellar hypoplasia
enlarged cisterna magna
cerebellar dysplasia
mental retardation, severe
delayed psychomotor development
more
Skeletal:
joint contractures

Head And Neck Face:
facial weakness

Cardiovascular Heart:
cardiomyopathy (reported in 1 patient)
left ventricular dysfunction (reported in 1 patient)

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
inability to walk
muscle biopsy shows dystrophic changes
hypotonia at birth
muscle pseudohypertrophy
decreased glycosylation of alpha-dystroglycan (dag1, )

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
retinal dystrophy (reported in 1 patient)
myopia (less common)
congenital cataracts (reported in 1 patient)

Clinical features from OMIM®:

613155 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:


facial paresis

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 29 POMT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

40
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

(show all 22)
# Title Authors PMID Year
1
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 57 6
22549409 2012
2
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 57
19299310 2009
3
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 6 57
17878207 2007
4
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 6 57
16575835 2006
5
Expanding the clinical spectrum of POMT1 phenotype. 57 6
16717220 2006
6
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. 57 6
11053679 2000
7
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. 6
27193224 2016
8
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. 6
28116189 2016
9
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. 6
24491487 2014
10
Detection limit of intragenic deletions with targeted array comparative genomic hybridization. 6
24304607 2013
11
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6
22522420 2012
12
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 6
22323514 2012
13
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 6
20816175 2010
14
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 6
18752264 2008
15
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 6
17869517 2008
16
Molecular heterogeneity in fetal forms of type II lissencephaly. 6
17559086 2007
17
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. 57
15792865 2005
18
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 6
15637732 2005
19
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 6
12369018 2002
20
Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. 57
11062006 2000
21
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. 57
9631397 1998
22
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system. 57
8879654 1996

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

6 (show top 50) (show all 229)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT1 POMT1, ARG541TER Variation Pathogenic 3248 GRCh37:
GRCh38:
2 POMT1 POMT1, GLN590HIS Variation Pathogenic 3249 GRCh37:
GRCh38:
3 POMT1 NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) SNV Pathogenic 3242 rs119462984 GRCh37: 9:134395562-134395562
GRCh38: 9:131520175-131520175
4 POMT1 NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) SNV Pathogenic 3244 rs119462983 GRCh37: 9:134381571-134381571
GRCh38: 9:131506184-131506184
5 POMT1 NM_001077365.2(POMT1):c.1175+1G>A SNV Pathogenic 3251 rs1051679985 GRCh37: 9:134388719-134388719
GRCh38: 9:131513332-131513332
6 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) SNV Pathogenic 471374 rs1554780670 GRCh37: 9:134393920-134393920
GRCh38: 9:131518533-131518533
7 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs) Deletion Pathogenic 638831 rs1588375386 GRCh37: 9:134385290-134385290
GRCh38: 9:131509903-131509903
8 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) Deletion Pathogenic 594265 rs1564364615 GRCh37: 9:134390832-134390833
GRCh38: 9:131515445-131515446
9 POMT1 NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn) SNV Pathogenic 562183 rs1564341846 GRCh37: 9:134384313-134384313
GRCh38: 9:131508926-131508926
10 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs) Duplication Pathogenic 655295 rs1315540509 GRCh37: 9:134397437-134397438
GRCh38: 9:131522050-131522051
11 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter) SNV Pathogenic 658622 rs1588391612 GRCh37: 9:134386846-134386846
GRCh38: 9:131511459-131511459
12 POMT1 NM_001077365.2(POMT1):c.1671del (p.Ile557fs) Deletion Pathogenic 848752 GRCh37: 9:134395552-134395552
GRCh38: 9:131520165-131520165
13 POMT1 NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer) Deletion Pathogenic 864585 GRCh37: 9:134382888-134382888
GRCh38: 9:131507501-131507501
14 POMT1 NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter) SNV Pathogenic 936444 GRCh37: 9:134394315-134394315
GRCh38: 9:131518928-131518928
15 POMT1 NM_001077365.2(POMT1):c.1091del (p.Leu364fs) Deletion Pathogenic 933596 GRCh37: 9:134388634-134388634
GRCh38: 9:131513247-131513247
16 POMT1 NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter) SNV Pathogenic 956205 GRCh37: 9:134381824-134381824
GRCh38: 9:131506437-131506437
17 POMT1 NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe) SNV Pathogenic 488581 rs777437871 GRCh37: 9:134397529-134397529
GRCh38: 9:131522142-131522142
18 POMT1 NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) SNV Pathogenic 3245 rs119462985 GRCh37: 9:134394332-134394332
GRCh38: 9:131518945-131518945
19 POMT1 NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) SNV Pathogenic 3250 rs119462987 GRCh37: 9:134397547-134397547
GRCh38: 9:131522160-131522160
20 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) SNV Pathogenic 95452 rs200056620 GRCh37: 9:134388630-134388630
GRCh38: 9:131513243-131513243
21 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) SNV Pathogenic 95452 rs200056620 GRCh37: 9:134388630-134388630
GRCh38: 9:131513243-131513243
22 POMT1 NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) SNV Pathogenic 3250 rs119462987 GRCh37: 9:134397547-134397547
GRCh38: 9:131522160-131522160
23 POMT1 NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) SNV Pathogenic 502224 rs765230689 GRCh37: 9:134387431-134387431
GRCh38: 9:131512044-131512044
24 POMT1 NM_001077365.2(POMT1):c.699+62del Deletion Pathogenic 538723 rs1356791510 GRCh37: 9:134385445-134385445
GRCh38: 9:131510058-131510058
25 POMT1 NM_001077365.2(POMT1):c.605+1G>C SNV Pathogenic 538720 rs766648827 GRCh37: 9:134385196-134385196
GRCh38: 9:131509809-131509809
26 POMT1 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) SNV Pathogenic 194859 rs794727208 GRCh37: 9:134396832-134396832
GRCh38: 9:131521445-131521445
27 POMT1 NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) SNV Pathogenic 3246 rs119462986 GRCh37: 9:134396738-134396738
GRCh38: 9:131521351-131521351
28 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) Duplication Pathogenic 3255 rs398124245 GRCh37: 9:134398412-134398413
GRCh38: 9:131523025-131523026
29 POMT1 NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) Microsatellite Pathogenic 3252 rs587777819 GRCh37: 9:134398425-134398426
GRCh38: 9:131523038-131523039
30 POMT1 NM_001077365.2(POMT1):c.579_580del (p.Val195fs) Deletion Likely pathogenic 817606 rs1032439203 GRCh37: 9:134385169-134385170
GRCh38: 9:131509782-131509783
31 POMT1 NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro) SNV Likely pathogenic 3243 rs119462982 GRCh37: 9:134385188-134385188
GRCh38: 9:131509801-131509801
32 POMT1 NM_001077365.2(POMT1):c.174_176CTT[2] (p.Phe60del) Microsatellite Likely pathogenic 431953 rs750195040 GRCh37: 9:134381551-134381553
GRCh38: 9:131506164-131506166
33 POMT1 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) SNV Likely pathogenic 194962 rs149682171 GRCh37: 9:134397500-134397500
GRCh38: 9:131522113-131522113
34 POMT1 NM_001077365.2(POMT1):c.1699-1G>A SNV Likely pathogenic 946669 GRCh37: 9:134396732-134396732
GRCh38: 9:131521345-131521345
35 POMT1 NM_001077365.2(POMT1):c.229+2T>C SNV Likely pathogenic 953462 GRCh37: 9:134381609-134381609
GRCh38: 9:131506222-131506222
36 POMT1 NM_001077365.2(POMT1):c.1698+1G>A SNV Likely pathogenic 631540 rs763586263 GRCh37: 9:134395581-134395581
GRCh38: 9:131520194-131520194
37 POMT1 NM_001077365.2(POMT1):c.1272+2T>C SNV Likely pathogenic 580081 rs1564365317 GRCh37: 9:134390911-134390911
GRCh38: 9:131515524-131515524
38 POMT1 NM_001077365.2(POMT1):c.987-2A>C SNV Likely pathogenic 580822 rs1453773610 GRCh37: 9:134387426-134387426
GRCh38: 9:131512039-131512039
39 POMT1 NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys) SNV Uncertain significance 581492 rs200179598 GRCh37: 9:134398398-134398398
GRCh38: 9:131523011-131523011
40 POMT1 NM_001077365.2(POMT1):c.2090T>A (p.Leu697His) SNV Uncertain significance 581594 rs753872714 GRCh37: 9:134398405-134398405
GRCh38: 9:131523018-131523018
41 POMT1 NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn) SNV Uncertain significance 640202 rs757785909 GRCh37: 9:134393908-134393908
GRCh38: 9:131518521-131518521
42 POMT1 NM_001077365.2(POMT1):c.928G>A (p.Val310Ile) SNV Uncertain significance 497676 rs190112934 GRCh37: 9:134386796-134386796
GRCh38: 9:131511409-131511409
43 POMT1 NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu) SNV Uncertain significance 644158 rs1588494128 GRCh37: 9:134396769-134396769
GRCh38: 9:131521382-131521382
44 POMT1 NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) SNV Uncertain significance 538718 rs938573554 GRCh37: 9:134398453-134398453
GRCh38: 9:131523066-131523066
45 POMT1 NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) SNV Uncertain significance 260143 rs144338642 GRCh37: 9:134396761-134396761
GRCh38: 9:131521374-131521374
46 POMT1 NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile) SNV Uncertain significance 568485 rs984288781 GRCh37: 9:134394829-134394829
GRCh38: 9:131519442-131519442
47 POMT1 NM_001077365.2(POMT1):c.2084G>A (p.Arg695His) SNV Uncertain significance 568812 rs373402995 GRCh37: 9:134398399-134398399
GRCh38: 9:131523012-131523012
48 POMT1 NM_001077365.2(POMT1):c.401T>C (p.Met134Thr) SNV Uncertain significance 574156 rs780170650 GRCh37: 9:134382875-134382875
GRCh38: 9:131507488-131507488
49 POMT1 NM_001077365.2(POMT1):c.2003+4C>T SNV Uncertain significance 285700 rs766635497 GRCh37: 9:134397615-134397615
GRCh38: 9:131522228-131522228
50 POMT1 NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly) SNV Uncertain significance 575648 rs1564381465 GRCh37: 9:134394844-134394844
GRCh38: 9:131519457-131519457

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

72
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Gly65Arg VAR_065027 rs119462983
2 POMT1 p.Trp582Cys VAR_065034 rs119462984
3 POMT1 p.Gln590His VAR_065035 rs119462986
4 POMT1 p.Ala669Thr VAR_065036 rs119462987

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 1.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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