MDDGA8
MCID: MSC166
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type a, 8 (MDDGA8)

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, 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 75 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 eye and brain, and related phenotypes are hydrocephalus and global developmental delay

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 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, 8

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
enlarged ventricles
lack of psychomotor development
cobblestone lissencephaly

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
microphthalmia
retinal dysplasia
macrophthalmia


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 global developmental delay 32 HP:0001263
3 ventriculomegaly 32 HP:0002119
4 cerebellar hypoplasia 32 HP:0001321
5 microphthalmia 32 HP:0000568
6 retinal dysplasia 32 HP:0007973
7 muscular dystrophy 32 HP:0003560
8 generalized hypotonia 32 HP:0001290
9 type ii lissencephaly 32 HP:0007260

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
Eye, Brain

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 138)
# 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.1219C> T (p.Arg407Trp) single nucleotide variant Uncertain significance rs138480528 GRCh37 Chromosome 3, 43121705: 43121705
6 POMGNT2 NM_032806.5(POMGNT2): c.1219C> T (p.Arg407Trp) single nucleotide variant Uncertain significance rs138480528 GRCh38 Chromosome 3, 43080213: 43080213
7 POMGNT2 NM_032806.5(POMGNT2): c.364G> A (p.Val122Met) single nucleotide variant Benign/Likely benign rs149948290 GRCh37 Chromosome 3, 43122560: 43122560
8 POMGNT2 NM_032806.5(POMGNT2): c.364G> A (p.Val122Met) single nucleotide variant Benign/Likely benign rs149948290 GRCh38 Chromosome 3, 43081068: 43081068
9 POMGNT2 NM_032806.5(POMGNT2): c.1602C> T (p.Tyr534=) single nucleotide variant Likely benign rs143832191 GRCh38 Chromosome 3, 43079830: 43079830
10 POMGNT2 NM_032806.5(POMGNT2): c.1602C> T (p.Tyr534=) single nucleotide variant Likely benign rs143832191 GRCh37 Chromosome 3, 43121322: 43121322
11 POMGNT2 NM_032806.5(POMGNT2): c.1488C> T (p.Gly496=) single nucleotide variant Benign rs35207939 GRCh37 Chromosome 3, 43121436: 43121436
12 POMGNT2 NM_032806.5(POMGNT2): c.1488C> T (p.Gly496=) single nucleotide variant Benign rs35207939 GRCh38 Chromosome 3, 43079944: 43079944
13 POMGNT2 NM_032806.5(POMGNT2): c.1233G> A (p.Gln411=) single nucleotide variant Benign rs9811883 GRCh37 Chromosome 3, 43121691: 43121691
14 POMGNT2 NM_032806.5(POMGNT2): c.1233G> A (p.Gln411=) single nucleotide variant Benign rs9811883 GRCh38 Chromosome 3, 43080199: 43080199
15 POMGNT2 NM_032806.5(POMGNT2): c.966C> G (p.Ser322=) single nucleotide variant Benign/Likely benign rs141319921 GRCh37 Chromosome 3, 43121958: 43121958
16 POMGNT2 NM_032806.5(POMGNT2): c.966C> G (p.Ser322=) single nucleotide variant Benign/Likely benign rs141319921 GRCh38 Chromosome 3, 43080466: 43080466
17 POMGNT2 NM_032806.5(POMGNT2): c.674G> A (p.Arg225Gln) single nucleotide variant Likely benign rs138980930 GRCh37 Chromosome 3, 43122250: 43122250
18 POMGNT2 NM_032806.5(POMGNT2): c.674G> A (p.Arg225Gln) single nucleotide variant Likely benign rs138980930 GRCh38 Chromosome 3, 43080758: 43080758
19 POMGNT2 NM_032806.5(POMGNT2): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147429438 GRCh37 Chromosome 3, 43122363: 43122363
20 POMGNT2 NM_032806.5(POMGNT2): c.561C> T (p.His187=) single nucleotide variant Conflicting interpretations of pathogenicity rs147429438 GRCh38 Chromosome 3, 43080871: 43080871
21 POMGNT2 NM_032806.5(POMGNT2): c.1385G> T (p.Arg462Leu) single nucleotide variant Benign rs34083889 GRCh37 Chromosome 3, 43121539: 43121539
22 POMGNT2 NM_032806.5(POMGNT2): c.1385G> T (p.Arg462Leu) single nucleotide variant Benign rs34083889 GRCh38 Chromosome 3, 43080047: 43080047
23 POMGNT2 NM_032806.5(POMGNT2): c.537G> C (p.Leu179=) single nucleotide variant Benign rs149932476 GRCh37 Chromosome 3, 43122387: 43122387
24 POMGNT2 NM_032806.5(POMGNT2): c.537G> C (p.Leu179=) single nucleotide variant Benign rs149932476 GRCh38 Chromosome 3, 43080895: 43080895
25 POMGNT2 NM_032806.5(POMGNT2): c.438G> A (p.Pro146=) single nucleotide variant Likely benign rs375314883 GRCh37 Chromosome 3, 43122486: 43122486
26 POMGNT2 NM_032806.5(POMGNT2): c.438G> A (p.Pro146=) single nucleotide variant Likely benign rs375314883 GRCh38 Chromosome 3, 43080994: 43080994
27 POMGNT2 NM_032806.5(POMGNT2): c.1384C> T (p.Arg462Trp) single nucleotide variant Benign/Likely benign rs147175064 GRCh37 Chromosome 3, 43121540: 43121540
28 POMGNT2 NM_032806.5(POMGNT2): c.1384C> T (p.Arg462Trp) single nucleotide variant Benign/Likely benign rs147175064 GRCh38 Chromosome 3, 43080048: 43080048
29 POMGNT2 NM_032806.5(POMGNT2): c.450A> G (p.Pro150=) single nucleotide variant Conflicting interpretations of pathogenicity rs142190930 GRCh38 Chromosome 3, 43080982: 43080982
30 POMGNT2 NM_032806.5(POMGNT2): c.450A> G (p.Pro150=) single nucleotide variant Conflicting interpretations of pathogenicity rs142190930 GRCh37 Chromosome 3, 43122474: 43122474
31 POMGNT2 NM_032806.5(POMGNT2): c.77G> A (p.Arg26His) single nucleotide variant Uncertain significance rs143667339 GRCh38 Chromosome 3, 43081355: 43081355
32 POMGNT2 NM_032806.5(POMGNT2): c.77G> A (p.Arg26His) single nucleotide variant Uncertain significance rs143667339 GRCh37 Chromosome 3, 43122847: 43122847
33 POMGNT2 NM_032806.5(POMGNT2): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs576598140 GRCh38 Chromosome 3, 43081010: 43081010
34 POMGNT2 NM_032806.5(POMGNT2): c.422G> A (p.Arg141His) single nucleotide variant Conflicting interpretations of pathogenicity rs576598140 GRCh37 Chromosome 3, 43122502: 43122502
35 POMGNT2 NM_032806.5(POMGNT2): c.1010A> G (p.Asn337Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200535361 GRCh37 Chromosome 3, 43121914: 43121914
36 POMGNT2 NM_032806.5(POMGNT2): c.1010A> G (p.Asn337Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200535361 GRCh38 Chromosome 3, 43080422: 43080422
37 POMGNT2 NM_032806.5(POMGNT2): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 43080687: 43080687
38 POMGNT2 NM_032806.5(POMGNT2): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 43122179: 43122179
39 POMGNT2 NM_032806.5(POMGNT2): c.239G> A (p.Arg80His) single nucleotide variant Conflicting interpretations of pathogenicity rs146511234 GRCh37 Chromosome 3, 43122685: 43122685
40 POMGNT2 NM_032806.5(POMGNT2): c.239G> A (p.Arg80His) single nucleotide variant Conflicting interpretations of pathogenicity rs146511234 GRCh38 Chromosome 3, 43081193: 43081193
41 POMGNT2 NM_032806.5(POMGNT2): c.71G> A (p.Arg24Gln) single nucleotide variant Uncertain significance rs139245562 GRCh37 Chromosome 3, 43122853: 43122853
42 POMGNT2 NM_032806.5(POMGNT2): c.71G> A (p.Arg24Gln) single nucleotide variant Uncertain significance rs139245562 GRCh38 Chromosome 3, 43081361: 43081361
43 POMGNT2 NM_032806.5(POMGNT2): c.650G> A (p.Arg217Gln) single nucleotide variant Uncertain significance rs368280765 GRCh37 Chromosome 3, 43122274: 43122274
44 POMGNT2 NM_032806.5(POMGNT2): c.650G> A (p.Arg217Gln) single nucleotide variant Uncertain significance rs368280765 GRCh38 Chromosome 3, 43080782: 43080782
45 POMGNT2 NM_032806.5(POMGNT2): c.1669C> T (p.Leu557=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 43121255: 43121255
46 POMGNT2 NM_032806.5(POMGNT2): c.1669C> T (p.Leu557=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 43079763: 43079763
47 POMGNT2 NM_032806.5(POMGNT2): c.635A> G (p.Lys212Arg) single nucleotide variant Uncertain significance rs141665095 GRCh37 Chromosome 3, 43122289: 43122289
48 POMGNT2 NM_032806.5(POMGNT2): c.635A> G (p.Lys212Arg) single nucleotide variant Uncertain significance rs141665095 GRCh38 Chromosome 3, 43080797: 43080797
49 POMGNT2 NM_032806.5(POMGNT2): c.421C> T (p.Arg141Cys) single nucleotide variant Uncertain significance rs150758981 GRCh37 Chromosome 3, 43122503: 43122503
50 POMGNT2 NM_032806.5(POMGNT2): c.421C> T (p.Arg141Cys) single nucleotide variant Uncertain significance rs150758981 GRCh38 Chromosome 3, 43081011: 43081011

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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