MDDGA14
MCID: MSC097
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type a, 14 (MDDGA14)

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 14 57 75 29 6 73
Mddga14 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A14 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Gmppb-Related 57
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Gmppb-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one patient has been reported (last curated july 2013)


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 14:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 14, is also known as mddga14, and has symptoms including ataxia and muscle weakness. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14 is GMPPB (GDP-Mannose Pyrophosphorylase B). Affiliated tissues include eye, brain and pons, and related phenotypes are ataxia and muscle weakness

Description from OMIM: 615350

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
absent speech
cerebellar hypoplasia
mental retardation, severe
delayed psychomotor development
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Eyes:
retinal dysfunction

Muscle Soft Tissue:
muscle weakness
muscular dystrophy
hypoglycosylation of alpha-dystroglycan seen on muscle biopsy
increased muscle tone at birth

Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

615350

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 muscle weakness 32 HP:0001324
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 sensorineural hearing impairment 32 HP:0000407
6 intellectual disability, severe 32 HP:0010864
7 elevated serum creatine phosphokinase 32 HP:0003236
8 cleft palate 32 HP:0000175
9 feeding difficulties 32 HP:0011968
10 absent speech 32 HP:0001344
11 inability to walk 32 HP:0002540
12 cerebellar hypoplasia 32 HP:0001321
13 oligohydramnios 32 HP:0001562
14 muscular dystrophy 32 HP:0003560
15 hypoplasia of the pons 32 HP:0012110
16 hypoglycosylation of alpha-dystroglycan 32 HP:0030046

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


ataxia, muscle weakness

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

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

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

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

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 14 29 GMPPB

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

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

41
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

75
# Symbol AA change Variation ID SNP ID
1 GMPPB p.Asp334Asn VAR_070148 rs397509422

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

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID Assembly Location
1 GMPPB NM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn) single nucleotide variant Likely pathogenic rs397509422 GRCh37 Chromosome 3, 49759268: 49759268
2 GMPPB NM_021971.2(GMPPB): c.1000G> A (p.Asp334Asn) single nucleotide variant Likely pathogenic rs397509422 GRCh38 Chromosome 3, 49721835: 49721835
3 GMPPB NM_013334.3(GMPPB): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs397509423 GRCh37 Chromosome 3, 49760726: 49760726
4 GMPPB NM_013334.3(GMPPB): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs397509423 GRCh38 Chromosome 3, 49723293: 49723293
5 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh37 Chromosome 3, 49760037: 49760037
6 GMPPB NM_021971.2(GMPPB): c.553C> T (p.Arg185Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397509425 GRCh38 Chromosome 3, 49722604: 49722604
7 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397509426 GRCh37 Chromosome 3, 49761065: 49761065
8 GMPPB NM_013334.3(GMPPB): c.95C> T (p.Pro32Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397509426 GRCh38 Chromosome 3, 49723632: 49723632
9 GMPPB NM_013334.3(GMPPB): c.860G> A (p.Arg287Gln) single nucleotide variant Pathogenic rs202160208 GRCh37 Chromosome 3, 49759489: 49759489
10 GMPPB NM_013334.3(GMPPB): c.860G> A (p.Arg287Gln) single nucleotide variant Pathogenic rs202160208 GRCh38 Chromosome 3, 49722056: 49722056
11 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh37 Chromosome 3, 49761081: 49761081
12 GMPPB NM_013334.3(GMPPB): c.79G> C (p.Asp27His) single nucleotide variant Pathogenic rs142336618 GRCh38 Chromosome 3, 49723648: 49723648
13 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199922550 GRCh37 Chromosome 3, 49759280: 49759280
14 GMPPB NM_013334.3(GMPPB): c.1069G> A (p.Val357Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199922550 GRCh38 Chromosome 3, 49721847: 49721847
15 GMPPB NM_021971.2(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142908436 GRCh37 Chromosome 3, 49759490: 49759490
16 GMPPB NM_021971.2(GMPPB): c.859C> T (p.Arg287Trp) single nucleotide variant Pathogenic/Likely pathogenic rs142908436 GRCh38 Chromosome 3, 49722057: 49722057
17 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh38 Chromosome 3, 49722998: 49722998
18 GMPPB NM_013334.3(GMPPB): c.376C> G (p.His126Asp) single nucleotide variant Benign rs34345884 GRCh37 Chromosome 3, 49760431: 49760431
19 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh38 Chromosome 3, 49723044: 49723044
20 GMPPB NM_013334.3(GMPPB): c.330C> T (p.Asp110=) single nucleotide variant Benign rs11547261 GRCh37 Chromosome 3, 49760477: 49760477
21 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh37 Chromosome 3, 49759220: 49759220
22 GMPPB NM_013334.3(GMPPB): c.1129G> A (p.Gly377Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs184127567 GRCh38 Chromosome 3, 49721787: 49721787
23 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh37 Chromosome 3, 49759251: 49759251
24 GMPPB NM_013334.3(GMPPB): c.1098C> T (p.Asn366=) single nucleotide variant Likely benign rs147074020 GRCh38 Chromosome 3, 49721818: 49721818
25 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh37 Chromosome 3, 49759389: 49759389
26 GMPPB NM_013334.3(GMPPB): c.960G> A (p.Leu320=) single nucleotide variant Likely benign rs55816606 GRCh38 Chromosome 3, 49721956: 49721956
27 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh37 Chromosome 3, 49760498: 49760498
28 GMPPB NM_013334.3(GMPPB): c.309T> C (p.Pro103=) single nucleotide variant Likely benign rs147516683 GRCh38 Chromosome 3, 49723065: 49723065
29 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh37 Chromosome 3, 49759418: 49759418
30 GMPPB NM_013334.3(GMPPB): c.931C> T (p.Arg311Cys) single nucleotide variant Uncertain significance rs371188899 GRCh38 Chromosome 3, 49721985: 49721985
31 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 49759191: 49759191
32 GMPPB NM_021971.2(GMPPB): c.1077C> G (p.Ile359Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 49721758: 49721758
33 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh38 Chromosome 3, 49723043: 49723043
34 GMPPB NM_021971.2(GMPPB): c.331G> A (p.Val111Met) single nucleotide variant Uncertain significance rs141201072 GRCh37 Chromosome 3, 49760476: 49760476
35 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh37 Chromosome 3, 49759518: 49759518
36 GMPPB NM_021971.2(GMPPB): c.831C> T (p.Gly277=) single nucleotide variant Uncertain significance rs763262592 GRCh38 Chromosome 3, 49722085: 49722085
37 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh38 Chromosome 3, 49722519: 49722519
38 GMPPB NM_021971.2(GMPPB): c.562-9C> A single nucleotide variant Likely benign rs183240200 GRCh37 Chromosome 3, 49759952: 49759952
39 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh38 Chromosome 3, 49722463: 49722465
40 GMPPB NM_021971.2(GMPPB): c.607_609delAAG (p.Lys203del) deletion Uncertain significance GRCh37 Chromosome 3, 49759896: 49759898
41 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh38 Chromosome 3, 49723008: 49723009
42 GMPPB NM_013334.3(GMPPB): c.365_366dup (p.Phe123Serfs) duplication Pathogenic GRCh37 Chromosome 3, 49760441: 49760442
43 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh38 Chromosome 3, 49722606: 49722606
44 GMPPB NM_021971.2(GMPPB): c.551G> A (p.Arg184Gln) single nucleotide variant Benign rs1466685 GRCh37 Chromosome 3, 49760039: 49760039
45 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh37 Chromosome 3, 49760131: 49760132
46 GMPPB NM_021971.2(GMPPB): c.458_459delCA (p.Thr153Argfs) deletion Pathogenic GRCh38 Chromosome 3, 49722698: 49722699
47 GMPPB NM_021971.2(GMPPB): c.130-6T> G single nucleotide variant Likely benign rs369862012 GRCh37 Chromosome 3, 49760911: 49760911
48 GMPPB NM_021971.2(GMPPB): c.130-6T> G single nucleotide variant Likely benign rs369862012 GRCh38 Chromosome 3, 49723478: 49723478
49 GMPPB NM_021971.2(GMPPB): c.374G> A (p.Arg125Gln) single nucleotide variant Uncertain significance rs758366693 GRCh38 Chromosome 3, 49723000: 49723000
50 GMPPB NM_021971.2(GMPPB): c.374G> A (p.Arg125Gln) single nucleotide variant Uncertain significance rs758366693 GRCh37 Chromosome 3, 49760433: 49760433

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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