MDDGB3
MCID: MSC046
MIFTS: 24

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 75 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B3 29 6
Mddgb3 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B3 75
Muscular Dystrophy, Congenital, Pomgnt1-Related 57
Muscular Dystrophy Congenital Pomgnt1-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated patients have been reported


HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

OMIM : 57 MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation 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)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 3, is also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b3. 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 brain, eye and pons, and related phenotypes are intellectual disability and microcephaly

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 optic atrophy 32 HP:0000648
4 elevated serum creatine phosphokinase 32 HP:0003236
5 strabismus 32 HP:0000486
6 myopia 32 HP:0000545
7 ventriculomegaly 32 HP:0002119
8 motor delay 32 HP:0001270
9 cerebellar hypoplasia 32 HP:0001321
10 muscular dystrophy 32 HP:0003560
11 congenital muscular dystrophy 32 HP:0003741
12 hypoplasia of the pons 32 HP:0012110
13 cerebellar cyst 32 HP:0002350

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:

41
Brain, Eye, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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

75
# 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

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

6 (show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh37 Chromosome 1, 46655645: 46655645
2 POMGNT1 NM_017739.3(POMGNT1): c.1666G> A (p.Asp556Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs74374973 GRCh38 Chromosome 1, 46189973: 46189973
3 POMGNT1 NM_017739.3(POMGNT1): c.1814G> C (p.Arg605Pro) single nucleotide variant Likely pathogenic rs267606962 GRCh37 Chromosome 1, 46655211: 46655211
4 POMGNT1 NM_017739.3(POMGNT1): c.1814G> C (p.Arg605Pro) single nucleotide variant Likely pathogenic rs267606962 GRCh38 Chromosome 1, 46189539: 46189539
5 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Likely pathogenic rs386834035 GRCh38 Chromosome 1, 46194843: 46194843
6 POMGNT1 NM_017739.3(POMGNT1): c.652+1G> A single nucleotide variant Likely pathogenic rs386834035 GRCh37 Chromosome 1, 46660515: 46660515
7 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh37 Chromosome 1, 46657840: 46657840
8 POMGNT1 NM_017739.3(POMGNT1): c.1469G> A (p.Cys490Tyr) single nucleotide variant Likely pathogenic rs267606960 GRCh38 Chromosome 1, 46192168: 46192168
9 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh37 Chromosome 1, 46657769: 46657769
10 POMGNT1 NM_017739.3(POMGNT1): c.1539+1G> A single nucleotide variant Pathogenic rs138642840 GRCh38 Chromosome 1, 46192097: 46192097
11 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs386834024 GRCh37 Chromosome 1, 46655129: 46655129
12 POMGNT1 NM_017739.3(POMGNT1): c.1895+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs386834024 GRCh38 Chromosome 1, 46189457: 46189457
13 POMGNT1 NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs386834034 GRCh37 Chromosome 1, 46660525: 46660525
14 POMGNT1 NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs386834034 GRCh38 Chromosome 1, 46194853: 46194853
15 POMGNT1 NM_001243766.1(POMGNT1): c.301G> A (p.Val101Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150576537 GRCh37 Chromosome 1, 46662456: 46662456
16 POMGNT1 NM_001243766.1(POMGNT1): c.301G> A (p.Val101Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150576537 GRCh38 Chromosome 1, 46196784: 46196784
17 POMGNT1 NM_017739.3(POMGNT1): c.1257G> A (p.Leu419=) single nucleotide variant Benign rs41292143 GRCh37 Chromosome 1, 46658217: 46658217
18 POMGNT1 NM_017739.3(POMGNT1): c.1257G> A (p.Leu419=) single nucleotide variant Benign rs41292143 GRCh38 Chromosome 1, 46192545: 46192545
19 POMGNT1 NM_017739.3(POMGNT1): c.1298C> T (p.Thr433Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146097254 GRCh38 Chromosome 1, 46192423: 46192423
20 POMGNT1 NM_017739.3(POMGNT1): c.1298C> T (p.Thr433Met) single nucleotide variant Conflicting interpretations of pathogenicity rs146097254 GRCh37 Chromosome 1, 46658095: 46658095
21 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh38 Chromosome 1, 46196766: 46196766
22 POMGNT1 NM_017739.3(POMGNT1): c.319C> A (p.Arg107Ser) single nucleotide variant Uncertain significance rs375420073 GRCh37 Chromosome 1, 46662438: 46662438
23 POMGNT1 NM_017739.3(POMGNT1): c.421-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189274856 GRCh37 Chromosome 1, 46661603: 46661603
24 POMGNT1 NM_017739.3(POMGNT1): c.421-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs189274856 GRCh38 Chromosome 1, 46195931: 46195931
25 POMGNT1 NM_017739.3(POMGNT1): c.636C> T (p.Phe212=) single nucleotide variant Pathogenic rs190057175 GRCh37 Chromosome 1, 46660532: 46660532
26 POMGNT1 NM_017739.3(POMGNT1): c.636C> T (p.Phe212=) single nucleotide variant Pathogenic rs190057175 GRCh38 Chromosome 1, 46194860: 46194860
27 POMGNT1 NM_017739.3(POMGNT1): c.1510G> A (p.Val504Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs17102066 GRCh37 Chromosome 1, 46657799: 46657799
28 POMGNT1 NM_017739.3(POMGNT1): c.1510G> A (p.Val504Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs17102066 GRCh38 Chromosome 1, 46192127: 46192127
29 POMGNT1 NM_017739.3(POMGNT1): c.208G> A (p.Glu70Lys) single nucleotide variant Uncertain significance rs201361648 GRCh37 Chromosome 1, 46662669: 46662669
30 POMGNT1 NM_017739.3(POMGNT1): c.208G> A (p.Glu70Lys) single nucleotide variant Uncertain significance rs201361648 GRCh38 Chromosome 1, 46196997: 46196997
31 POMGNT1 NM_017739.3(POMGNT1): c.1979C> T (p.Thr660Ile) single nucleotide variant Uncertain significance rs377760450 GRCh37 Chromosome 1, 46654946: 46654946
32 POMGNT1 NM_017739.3(POMGNT1): c.1979C> T (p.Thr660Ile) single nucleotide variant Uncertain significance rs377760450 GRCh38 Chromosome 1, 46189274: 46189274
33 POMGNT1 NM_017739.3(POMGNT1): c.706G> C (p.Asp236His) single nucleotide variant Uncertain significance rs201525710 GRCh37 Chromosome 1, 46660270: 46660270
34 POMGNT1 NM_017739.3(POMGNT1): c.706G> C (p.Asp236His) single nucleotide variant Uncertain significance rs201525710 GRCh38 Chromosome 1, 46194598: 46194598
35 POMGNT1 NM_017739.3(POMGNT1): c.46C> T (p.Arg16Trp) single nucleotide variant Uncertain significance rs34058684 GRCh37 Chromosome 1, 46663448: 46663448
36 POMGNT1 NM_017739.3(POMGNT1): c.46C> T (p.Arg16Trp) single nucleotide variant Uncertain significance rs34058684 GRCh38 Chromosome 1, 46197776: 46197776
37 POMGNT1 NM_017739.3(POMGNT1): c.1457G> A (p.Arg486Gln) single nucleotide variant Uncertain significance rs753030030 GRCh37 Chromosome 1, 46657852: 46657852
38 POMGNT1 NM_017739.3(POMGNT1): c.1457G> A (p.Arg486Gln) single nucleotide variant Uncertain significance rs753030030 GRCh38 Chromosome 1, 46192180: 46192180
39 POMGNT1 NM_017739.3(POMGNT1): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs544816408 GRCh37 Chromosome 1, 46657855: 46657855
40 POMGNT1 NM_017739.3(POMGNT1): c.1454G> A (p.Arg485His) single nucleotide variant Uncertain significance rs544816408 GRCh38 Chromosome 1, 46192183: 46192183
41 POMGNT1 NM_017739.3(POMGNT1): c.172A> G (p.Ile58Val) single nucleotide variant Uncertain significance rs886044042 GRCh37 Chromosome 1, 46662705: 46662705
42 POMGNT1 NM_017739.3(POMGNT1): c.172A> G (p.Ile58Val) single nucleotide variant Uncertain significance rs886044042 GRCh38 Chromosome 1, 46197033: 46197033
43 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh37 Chromosome 1, 46662488: 46662488
44 POMGNT1 NM_017739.3(POMGNT1): c.269G> A (p.Arg90His) single nucleotide variant Uncertain significance rs139701867 GRCh38 Chromosome 1, 46196816: 46196816
45 POMGNT1 NM_017739.3(POMGNT1): c.1284+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs565797493 GRCh37 Chromosome 1, 46658181: 46658181
46 POMGNT1 NM_017739.3(POMGNT1): c.1284+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs565797493 GRCh38 Chromosome 1, 46192509: 46192509
47 POMGNT1 NM_017739.3(POMGNT1): c.1539C> T (p.His513=) single nucleotide variant Uncertain significance rs569297597 GRCh37 Chromosome 1, 46657770: 46657770
48 POMGNT1 NM_017739.3(POMGNT1): c.1539C> T (p.His513=) single nucleotide variant Uncertain significance rs569297597 GRCh38 Chromosome 1, 46192098: 46192098
49 POMGNT1 NM_017739.3(POMGNT1): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs776165339 GRCh37 Chromosome 1, 46661577: 46661577
50 POMGNT1 NM_017739.3(POMGNT1): c.440G> A (p.Arg147His) single nucleotide variant Uncertain significance rs776165339 GRCh38 Chromosome 1, 46195905: 46195905

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 3

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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

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