MCID: MSC166
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type a, 8

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 8 57 29 6 73
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8 57 13
Mddga8 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A8 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Gtdc2-Related 57
Muscle-Eye-Brain Disease Gtdc2-Related 75
Walker-Warburg Syndrome Gtdc2-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset prenatally or at birth
severe phenotype
most patients die within the first year of life


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

OMIM : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Manzini et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (614830)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 8, is also known as muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 8 is POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)). Affiliated tissues include brain and eye, and related phenotypes are hydrocephalus and microphthalmia

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

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 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

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal dysplasia
microphthalmia
macrophthalmia

Neurologic Central Nervous System:
lack of psychomotor development
hydrocephalus
enlarged ventricles
cobblestone lissencephaly
cerebellar hypoplasia

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

614830

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 microphthalmia 32 HP:0000568
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 cerebellar hypoplasia 32 HP:0001321
6 ventriculomegaly 32 HP:0002119
7 muscular dystrophy 32 HP:0003560
8 type ii lissencephaly 32 HP:0007260
9 retinal dysplasia 32 HP:0007973

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 8 29 POMGNT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

41
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

75
# Symbol AA change Variation ID SNP ID
1 POMGNT2 p.Arg158His VAR_068967 rs387907300

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMGNT2 NM_032806.5(POMGNT2): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs387907299 GRCh37 Chromosome 3, 43121591: 43121591
2 POMGNT2 NM_032806.5(POMGNT2): c.1333C> T (p.Arg445Ter) single nucleotide variant Pathogenic rs387907299 GRCh38 Chromosome 3, 43080099: 43080099
3 POMGNT2 NM_032806.5(POMGNT2): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic/Likely pathogenic rs387907300 GRCh37 Chromosome 3, 43122451: 43122451
4 POMGNT2 NM_032806.5(POMGNT2): c.473G> A (p.Arg158His) single nucleotide variant Pathogenic/Likely pathogenic rs387907300 GRCh38 Chromosome 3, 43080959: 43080959
5 POMGNT2 NM_032806.5(POMGNT2): c.364G> A (p.Val122Met) single nucleotide variant Benign/Likely benign rs149948290 GRCh37 Chromosome 3, 43122560: 43122560
6 POMGNT2 NM_032806.5(POMGNT2): c.364G> A (p.Val122Met) single nucleotide variant Benign/Likely benign rs149948290 GRCh38 Chromosome 3, 43081068: 43081068
7 POMGNT2 NM_032806.5(POMGNT2): c.1602C> T (p.Tyr534=) single nucleotide variant Likely benign rs143832191 GRCh38 Chromosome 3, 43079830: 43079830
8 POMGNT2 NM_032806.5(POMGNT2): c.1602C> T (p.Tyr534=) single nucleotide variant Likely benign rs143832191 GRCh37 Chromosome 3, 43121322: 43121322
9 POMGNT2 NM_032806.5(POMGNT2): c.1488C> T (p.Gly496=) single nucleotide variant Benign rs35207939 GRCh37 Chromosome 3, 43121436: 43121436
10 POMGNT2 NM_032806.5(POMGNT2): c.1488C> T (p.Gly496=) single nucleotide variant Benign rs35207939 GRCh38 Chromosome 3, 43079944: 43079944
11 POMGNT2 NM_032806.5(POMGNT2): c.1233G> A (p.Gln411=) single nucleotide variant Benign rs9811883 GRCh37 Chromosome 3, 43121691: 43121691
12 POMGNT2 NM_032806.5(POMGNT2): c.1233G> A (p.Gln411=) single nucleotide variant Benign rs9811883 GRCh38 Chromosome 3, 43080199: 43080199
13 POMGNT2 NM_032806.5(POMGNT2): c.966C> G (p.Ser322=) single nucleotide variant Benign/Likely benign rs141319921 GRCh37 Chromosome 3, 43121958: 43121958
14 POMGNT2 NM_032806.5(POMGNT2): c.966C> G (p.Ser322=) single nucleotide variant Benign/Likely benign rs141319921 GRCh38 Chromosome 3, 43080466: 43080466
15 POMGNT2 NM_032806.5(POMGNT2): c.674G> A (p.Arg225Gln) single nucleotide variant Likely benign rs138980930 GRCh37 Chromosome 3, 43122250: 43122250
16 POMGNT2 NM_032806.5(POMGNT2): c.674G> A (p.Arg225Gln) single nucleotide variant Likely benign rs138980930 GRCh38 Chromosome 3, 43080758: 43080758
17 POMGNT2 NM_032806.5(POMGNT2): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147429438 GRCh37 Chromosome 3, 43122363: 43122363
18 POMGNT2 NM_032806.5(POMGNT2): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147429438 GRCh38 Chromosome 3, 43080871: 43080871
19 POMGNT2 NM_032806.5(POMGNT2): c.1385G> T (p.Arg462Leu) single nucleotide variant Benign rs34083889 GRCh37 Chromosome 3, 43121539: 43121539
20 POMGNT2 NM_032806.5(POMGNT2): c.1385G> T (p.Arg462Leu) single nucleotide variant Benign rs34083889 GRCh38 Chromosome 3, 43080047: 43080047
21 POMGNT2 NM_032806.5(POMGNT2): c.537G> C (p.Leu179=) single nucleotide variant Benign rs149932476 GRCh37 Chromosome 3, 43122387: 43122387
22 POMGNT2 NM_032806.5(POMGNT2): c.537G> C (p.Leu179=) single nucleotide variant Benign rs149932476 GRCh38 Chromosome 3, 43080895: 43080895
23 POMGNT2 NM_032806.5(POMGNT2): c.438G> A (p.Pro146=) single nucleotide variant Likely benign rs375314883 GRCh37 Chromosome 3, 43122486: 43122486
24 POMGNT2 NM_032806.5(POMGNT2): c.438G> A (p.Pro146=) single nucleotide variant Likely benign rs375314883 GRCh38 Chromosome 3, 43080994: 43080994
25 POMGNT2 NM_032806.5(POMGNT2): c.1384C> T (p.Arg462Trp) single nucleotide variant Benign/Likely benign rs147175064 GRCh38 Chromosome 3, 43080048: 43080048
26 POMGNT2 NM_032806.5(POMGNT2): c.1384C> T (p.Arg462Trp) single nucleotide variant Benign/Likely benign rs147175064 GRCh37 Chromosome 3, 43121540: 43121540
27 POMGNT2 NM_032806.5(POMGNT2): c.450A> G (p.Pro150=) single nucleotide variant Conflicting interpretations of pathogenicity rs142190930 GRCh38 Chromosome 3, 43080982: 43080982
28 POMGNT2 NM_032806.5(POMGNT2): c.450A> G (p.Pro150=) single nucleotide variant Conflicting interpretations of pathogenicity rs142190930 GRCh37 Chromosome 3, 43122474: 43122474
29 POMGNT2 NM_032806.5(POMGNT2): c.77G> A (p.Arg26His) single nucleotide variant Uncertain significance rs143667339 GRCh38 Chromosome 3, 43081355: 43081355
30 POMGNT2 NM_032806.5(POMGNT2): c.77G> A (p.Arg26His) single nucleotide variant Uncertain significance rs143667339 GRCh37 Chromosome 3, 43122847: 43122847
31 POMGNT2 NM_032806.5(POMGNT2): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs576598140 GRCh37 Chromosome 3, 43122502: 43122502
32 POMGNT2 NM_032806.5(POMGNT2): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs576598140 GRCh38 Chromosome 3, 43081010: 43081010
33 POMGNT2 NM_032806.5(POMGNT2): c.1010A> G (p.Asn337Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200535361 GRCh37 Chromosome 3, 43121914: 43121914
34 POMGNT2 NM_032806.5(POMGNT2): c.1010A> G (p.Asn337Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200535361 GRCh38 Chromosome 3, 43080422: 43080422
35 POMGNT2 NM_032806.5(POMGNT2): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 43080687: 43080687
36 POMGNT2 NM_032806.5(POMGNT2): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 43122179: 43122179
37 POMGNT2 NM_032806.5(POMGNT2): c.239G> A (p.Arg80His) single nucleotide variant Conflicting interpretations of pathogenicity rs146511234 GRCh38 Chromosome 3, 43081193: 43081193
38 POMGNT2 NM_032806.5(POMGNT2): c.239G> A (p.Arg80His) single nucleotide variant Conflicting interpretations of pathogenicity rs146511234 GRCh37 Chromosome 3, 43122685: 43122685
39 POMGNT2 NM_032806.5(POMGNT2): c.71G> A (p.Arg24Gln) single nucleotide variant Uncertain significance rs139245562 GRCh38 Chromosome 3, 43081361: 43081361
40 POMGNT2 NM_032806.5(POMGNT2): c.71G> A (p.Arg24Gln) single nucleotide variant Uncertain significance rs139245562 GRCh37 Chromosome 3, 43122853: 43122853
41 POMGNT2 NM_032806.5(POMGNT2): c.650G> A (p.Arg217Gln) single nucleotide variant Uncertain significance rs368280765 GRCh38 Chromosome 3, 43080782: 43080782
42 POMGNT2 NM_032806.5(POMGNT2): c.650G> A (p.Arg217Gln) single nucleotide variant Uncertain significance rs368280765 GRCh37 Chromosome 3, 43122274: 43122274
43 POMGNT2 NM_032806.5(POMGNT2): c.1669C> T (p.Leu557=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 43079763: 43079763
44 POMGNT2 NM_032806.5(POMGNT2): c.1669C> T (p.Leu557=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 43121255: 43121255
45 POMGNT2 NM_032806.5(POMGNT2): c.635A> G (p.Lys212Arg) single nucleotide variant Uncertain significance rs141665095 GRCh37 Chromosome 3, 43122289: 43122289
46 POMGNT2 NM_032806.5(POMGNT2): c.635A> G (p.Lys212Arg) single nucleotide variant Uncertain significance rs141665095 GRCh38 Chromosome 3, 43080797: 43080797
47 POMGNT2 NM_032806.5(POMGNT2): c.421C> T (p.Arg141Cys) single nucleotide variant Uncertain significance rs150758981 GRCh37 Chromosome 3, 43122503: 43122503
48 POMGNT2 NM_032806.5(POMGNT2): c.421C> T (p.Arg141Cys) single nucleotide variant Uncertain significance rs150758981 GRCh38 Chromosome 3, 43081011: 43081011
49 POMGNT2 NM_032806.5(POMGNT2): c.576C> T (p.Phe192=) single nucleotide variant Likely benign rs755626367 GRCh38 Chromosome 3, 43080856: 43080856
50 POMGNT2 NM_032806.5(POMGNT2): c.576C> T (p.Phe192=) single nucleotide variant Likely benign rs755626367 GRCh37 Chromosome 3, 43122348: 43122348

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 8.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

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