MDDGB14
MCID: MSC099
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type B, 14 (MDDGB14)

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, 14

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 14 57 72 29 6 70
Mddgb14 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B14 72
Muscular Dystrophy, Congenital, Gmppb-Related 57
Congenital Muscular Dystrophy Gmppb-Related 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
onset at birth or in early infancy


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 14:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

OMIM® : 57 MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (615351) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 14, is also known as mddgb14, and has symptoms including generalized muscle wasting An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Related phenotypes are ptosis and nystagmus

UniProtKB/Swiss-Prot : 72 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 nystagmus 31 occasional (7.5%) HP:0000639
3 cataract 31 occasional (7.5%) HP:0000518
4 flexion contracture 31 occasional (7.5%) HP:0001371
5 strabismus 31 occasional (7.5%) HP:0000486
6 prolonged qt interval 31 occasional (7.5%) HP:0001657
7 cerebellar hypoplasia 31 occasional (7.5%) HP:0001321
8 seizure 31 occasional (7.5%) HP:0001250
9 intellectual disability 31 HP:0001249
10 global developmental delay 31 HP:0001263
11 microcephaly 31 HP:0000252
12 hypertonia 31 HP:0001276
13 absent speech 31 HP:0001344
14 elevated serum creatine kinase 31 HP:0003236
15 decreased fetal movement 31 HP:0001558
16 poor head control 31 HP:0002421
17 feeding difficulties 31 HP:0011968
18 muscular dystrophy 31 HP:0003560
19 generalized hypotonia 31 HP:0001290
20 congenital muscular dystrophy 31 HP:0003741
21 generalized limb muscle atrophy 31 HP:0009055
22 hypoglycosylation of alpha-dystroglycan 31 HP:0030046
23 myopathic facies 31 HP:0002058

Symptoms via clinical synopsis from OMIM®:

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

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Eyes:
nystagmus (in some patients)
strabismus (in some patients)
cataracts (in some patients)
ptosis (in some patients)

Skeletal:
contractures (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Neurologic Central Nervous System:
absent speech
seizures (in some patients)
delayed psychomotor development
mental retardation, mild to severe
cerebellar hypoplasia (in some patients)
more
Muscle Soft Tissue:
muscular dystrophy
generalized muscle wasting
hypotonia
muscle weakness, severe
dystrophic features seen on muscle biopsy
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
myopathic face

Cardiovascular Heart:
long qt syndrome (1 patient)
left ventricular dilatation (1 patient)

Clinical features from OMIM®:

615351 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:


generalized muscle wasting

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Mental Retardation), Type B, 14 29 GMPPB

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

(show all 15)
# Title Authors PMID Year
1
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 57 6
23768512 2013
2
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. 57 6
19901254 2009
3
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. 6
30257713 2018
4
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. 6
29437916 2018
5
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases. 6
28914264 2018
6
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 6
27874200 2017
7
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 6
28478914 2017
8
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. 6
28433477 2017
9
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 6
27766311 2016
10
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 6
26310427 2015
11
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 6
26133662 2015
12
Expanding the phenotype of GMPPB mutations. 6
25681410 2015
13
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. 6
25770200 2015
14
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. 6
24780531 2014
15
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 6
23894383 2013

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GMPPB NM_021971.4(GMPPB):c.456_457CA[1] (p.Thr153fs) Microsatellite Pathogenic 474017 rs1553691918 GRCh37: 3:49760131-49760132
GRCh38: 3:49722698-49722699
2 GMPPB NM_021971.4(GMPPB):c.365_366dup (p.Phe123fs) Duplication Pathogenic 474016 rs1553691975 GRCh37: 3:49760440-49760441
GRCh38: 3:49723007-49723008
3 GMPPB NM_021971.4(GMPPB):c.790C>T (p.Gln264Ter) SNV Pathogenic 571713 rs763971677 GRCh37: 3:49759559-49759559
GRCh38: 3:49722126-49722126
4 GMPPB NM_021971.4(GMPPB):c.109C>T (p.Gln37Ter) SNV Pathogenic 647358 rs1348189028 GRCh37: 3:49761051-49761051
GRCh38: 3:49723618-49723618
5 GMPPB NM_021971.4(GMPPB):c.271_283del (p.Ala91fs) Deletion Pathogenic 663873 rs1191822017 GRCh37: 3:49760524-49760536
GRCh38: 3:49723091-49723103
6 GMPPB NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr) SNV Pathogenic 575991 rs761714818 GRCh37: 3:49759776-49759776
GRCh38: 3:49722343-49722343
7 GMPPB NM_021971.4(GMPPB):c.728_746delinsACAGA (p.Arg243fs) Indel Pathogenic 966838 GRCh37: 3:49759686-49759704
GRCh38: 3:49722253-49722271
8 GMPPB NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) SNV Pathogenic 60543 rs397509425 GRCh37: 3:49760037-49760037
GRCh38: 3:49722604-49722604
9 GMPPB NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) SNV Pathogenic 60543 rs397509425 GRCh37: 3:49760037-49760037
GRCh38: 3:49722604-49722604
10 GMPPB NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu) SNV Pathogenic 60544 rs397509426 GRCh37: 3:49761065-49761065
GRCh38: 3:49723632-49723632
11 GMPPB NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) SNV Pathogenic 60545 rs202160208 GRCh37: 3:49759489-49759489
GRCh38: 3:49722056-49722056
12 GMPPB NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) SNV Pathogenic 60545 rs202160208 GRCh37: 3:49759489-49759489
GRCh38: 3:49722056-49722056
13 GMPPB NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) SNV Pathogenic 225925 rs142908436 GRCh37: 3:49759490-49759490
GRCh38: 3:49722057-49722057
14 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His) SNV Pathogenic 60546 rs142336618 GRCh37: 3:49761081-49761081
GRCh38: 3:49723648-49723648
15 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His) SNV Pathogenic 60546 rs142336618 GRCh37: 3:49761081-49761081
GRCh38: 3:49723648-49723648
16 GMPPB NM_021971.4(GMPPB):c.988G>A (p.Val330Ile) SNV Likely pathogenic 60547 rs199922550 GRCh37: 3:49759280-49759280
GRCh38: 3:49721847-49721847
17 GMPPB NM_021971.4(GMPPB):c.402+1G>A SNV Likely pathogenic 570106 rs145564018 GRCh37: 3:49760404-49760404
GRCh38: 3:49722971-49722971
18 GMPPB NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) SNV Likely pathogenic 638638 rs202013297 GRCh37: 3:49760132-49760132
GRCh38: 3:49722699-49722699
19 GMPPB NM_021971.4(GMPPB):c.395C>G (p.Ser132Cys) SNV Likely pathogenic 640100 rs145535498 GRCh37: 3:49760412-49760412
GRCh38: 3:49722979-49722979
20 GMPPB NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) SNV Likely pathogenic 60540 rs397509422 GRCh37: 3:49759268-49759268
GRCh38: 3:49721835-49721835
21 GMPPB NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) SNV Likely pathogenic 60540 rs397509422 GRCh37: 3:49759268-49759268
GRCh38: 3:49721835-49721835
22 GMPPB NM_021971.4(GMPPB):c.1070G>A (p.Arg357His) SNV Likely pathogenic 581597 rs771861177 GRCh37: 3:49759198-49759198
GRCh38: 3:49721765-49721765
23 GMPPB NM_021971.4(GMPPB):c.640+1G>A SNV Likely pathogenic 640954 rs141588721 GRCh37: 3:49759864-49759864
GRCh38: 3:49722431-49722431
24 GMPPB NM_021971.4(GMPPB):c.937C>T (p.Arg313Cys) SNV Uncertain significance 643311 rs144421130 GRCh37: 3:49759412-49759412
GRCh38: 3:49721979-49721979
25 GMPPB NM_021971.4(GMPPB):c.304G>C (p.Asp102His) SNV Uncertain significance 643979 rs368542417 GRCh37: 3:49760503-49760503
GRCh38: 3:49723070-49723070
26 GMPPB NM_021971.4(GMPPB):c.812A>G (p.Asn271Ser) SNV Uncertain significance 645452 rs370840899 GRCh37: 3:49759537-49759537
GRCh38: 3:49722104-49722104
27 GMPPB NM_021971.4(GMPPB):c.116A>G (p.Glu39Gly) SNV Uncertain significance 646328 rs1575297274 GRCh37: 3:49761044-49761044
GRCh38: 3:49723611-49723611
28 GMPPB NM_021971.4(GMPPB):c.757A>G (p.Asn253Asp) SNV Uncertain significance 647250 rs1015055492 GRCh37: 3:49759675-49759675
GRCh38: 3:49722242-49722242
29 GMPPB NM_021971.4(GMPPB):c.94C>T (p.Pro32Ser) SNV Uncertain significance 654897 rs1575297292 GRCh37: 3:49761066-49761066
GRCh38: 3:49723633-49723633
30 GMPPB NM_021971.4(GMPPB):c.473G>C (p.Arg158Pro) SNV Uncertain significance 657979 rs374497499 GRCh37: 3:49760117-49760117
GRCh38: 3:49722684-49722684
31 GMPPB NM_021971.4(GMPPB):c.863G>C (p.Arg288Pro) SNV Uncertain significance 660239 rs769346834 GRCh37: 3:49759486-49759486
GRCh38: 3:49722053-49722053
32 GMPPB NM_021971.4(GMPPB):c.160A>C (p.Ser54Arg) SNV Uncertain significance 664971 rs145671483 GRCh37: 3:49760875-49760875
GRCh38: 3:49723442-49723442
33 GMPPB NM_021971.4(GMPPB):c.792G>C (p.Gln264His) SNV Uncertain significance 573725 rs1559696652 GRCh37: 3:49759557-49759557
GRCh38: 3:49722124-49722124
34 GMPPB NM_021971.4(GMPPB):c.62C>A (p.Thr21Asn) SNV Uncertain significance 574966 rs1438380704 GRCh37: 3:49761098-49761098
GRCh38: 3:49723665-49723665
35 GMPPB NM_021971.4(GMPPB):c.215G>A (p.Gly72Glu) SNV Uncertain significance 566118 rs1245162935 GRCh37: 3:49760731-49760731
GRCh38: 3:49723298-49723298
36 GMPPB NM_021971.4(GMPPB):c.287_307del (p.Leu96_Asp102del) Deletion Uncertain significance 566671 rs1559697587 GRCh37: 3:49760500-49760520
GRCh38: 3:49723067-49723087
37 GMPPB NM_021971.4(GMPPB):c.569C>G (p.Pro190Arg) SNV Uncertain significance 566780 rs1559697016 GRCh37: 3:49759936-49759936
GRCh38: 3:49722503-49722503
38 GMPPB NM_021971.4(GMPPB):c.1077C>G (p.Ile359Met) SNV Uncertain significance 474013 rs1553691662 GRCh37: 3:49759191-49759191
GRCh38: 3:49721758-49721758
39 GMPPB NM_021971.4(GMPPB):c.831C>T (p.Gly277=) SNV Uncertain significance 474021 rs763262592 GRCh37: 3:49759518-49759518
GRCh38: 3:49722085-49722085
40 GMPPB NM_021971.4(GMPPB):c.331G>A (p.Val111Met) SNV Uncertain significance 474015 rs141201072 GRCh37: 3:49760476-49760476
GRCh38: 3:49723043-49723043
41 GMPPB NM_021971.4(GMPPB):c.607_609del (p.Lys203del) Deletion Uncertain significance 474020 rs1553691853 GRCh37: 3:49759896-49759898
GRCh38: 3:49722463-49722465
42 GMPPB NM_021971.4(GMPPB):c.1009T>C (p.Tyr337His) SNV Uncertain significance 541074 rs1553691683 GRCh37: 3:49759259-49759259
GRCh38: 3:49721826-49721826
43 GMPPB NM_021971.4(GMPPB):c.877C>T (p.Arg293Trp) SNV Uncertain significance 541075 rs756682220 GRCh37: 3:49759472-49759472
GRCh38: 3:49722039-49722039
44 GMPPB NM_021971.4(GMPPB):c.218T>C (p.Ile73Thr) SNV Uncertain significance 541076 rs1553692045 GRCh37: 3:49760728-49760728
GRCh38: 3:49723295-49723295
45 GMPPB NM_021971.4(GMPPB):c.956G>A (p.Arg319His) SNV Uncertain significance 541079 rs768327938 GRCh37: 3:49759312-49759312
GRCh38: 3:49721879-49721879
46 GMPPB NM_021971.4(GMPPB):c.758A>G (p.Asn253Ser) SNV Uncertain significance 581654 rs1559696765 GRCh37: 3:49759674-49759674
GRCh38: 3:49722241-49722241
47 GMPPB NM_021971.4(GMPPB):c.129+5G>A SNV Uncertain significance 971209 GRCh37: 3:49761026-49761026
GRCh38: 3:49723593-49723593
48 GMPPB NM_021971.4(GMPPB):c.589G>T (p.Val197Phe) SNV Uncertain significance 843614 GRCh37: 3:49759916-49759916
GRCh38: 3:49722483-49722483
49 GMPPB NM_021971.4(GMPPB):c.1040A>G (p.Lys347Arg) SNV Uncertain significance 847720 GRCh37: 3:49759228-49759228
GRCh38: 3:49721795-49721795
50 GMPPB NM_021971.4(GMPPB):c.887G>A (p.Arg296Gln) SNV Uncertain significance 852301 GRCh37: 3:49759462-49759462
GRCh38: 3:49722029-49722029

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 14:

72
# Symbol AA change Variation ID SNP ID
1 GMPPB p.Pro32Leu VAR_070144 rs397509426
2 GMPPB p.Arg185Cys VAR_070145 rs397509425
3 GMPPB p.Arg287Gln VAR_070146 rs202160208

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 14.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 14

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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