MDDGA8
MCID: MSC166
MIFTS: 33

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 70
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8 57 72 29 13
Mddga8 57 72
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A8 72
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Gtdc2-Related 57
Muscle-Eye-Brain Disease Gtdc2-Related 72
Walker-Warburg Syndrome Gtdc2-Related 72

Characteristics:

OMIM®:

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

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614830
OMIM Phenotypic Series 57 PS236670
MeSH 44 D058494
UMLS 70 C3553813

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) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 8, also known as muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8, is related to congenital muscular dystrophy-dystroglycanopathy type a8 and congenital muscular dystrophy-dystroglycanopathy a7. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 8 is POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include eye and brain, and related phenotypes are hydrocephalus and global developmental delay

UniProtKB/Swiss-Prot : 72 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
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

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a8 11.0
2 congenital muscular dystrophy-dystroglycanopathy a7 9.7 CRPPA-AS1 CRPPA
3 muscular dystrophy-dystroglycanopathy , type c, 7 9.7 CRPPA-AS1 CRPPA
4 cobblestone lissencephaly 9.7 POMGNT2 CRPPA
5 lissencephaly 9.6 POMGNT2 CRPPA
6 congenital muscular dystrophy-dystroglycanopathy type a 9.6 POMGNT2 CRPPA
7 muscular dystrophy-dystroglycanopathy , type c, 5 9.6 POMGNT2 CRPPA
8 muscular dystrophy-dystroglycanopathy , type a, 4 9.5 POMGNT2 CRPPA
9 muscular dystrophy-dystroglycanopathy , type a, 7 9.5 CRPPA-AS1 CRPPA
10 muscular dystrophy-dystroglycanopathy 9.4 POMGNT2 CRPPA-AS1 CRPPA
11 muscular dystrophy 9.4 POMGNT2 CRPPA-AS1 CRPPA
12 walker-warburg syndrome 9.4 POMGNT2 CRPPA-AS1 CRPPA

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type a, 8

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 global developmental delay 31 HP:0001263
3 microphthalmia 31 HP:0000568
4 ventriculomegaly 31 HP:0002119
5 cerebellar hypoplasia 31 HP:0001321
6 muscular dystrophy 31 HP:0003560
7 generalized hypotonia 31 HP:0001290
8 retinal dysplasia 31 HP:0007973
9 type ii lissencephaly 31 HP:0007260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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
2 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8 29

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

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

40
Eye, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8:

# Title Authors PMID Year
1
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. 6 57
22958903 2012

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

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

6 (show top 50) (show all 178)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMGNT2 NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) SNV Pathogenic 37207 rs387907299 GRCh37: 3:43121591-43121591
GRCh38: 3:43080099-43080099
2 POMGNT2 NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) SNV Pathogenic 37208 rs387907300 GRCh37: 3:43122451-43122451
GRCh38: 3:43080959-43080959
3 POMGNT2 NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) SNV Pathogenic 436373 rs1553618354 GRCh37: 3:43122179-43122179
GRCh38: 3:43080687-43080687
4 POMGNT2 NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter) SNV Pathogenic 694624 rs752069645 GRCh37: 3:43122334-43122334
GRCh38: 3:43080842-43080842
5 POMGNT2 NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs) Deletion Pathogenic 859488 GRCh37: 3:43121921-43121924
GRCh38: 3:43080429-43080432
6 POMGNT2 NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) SNV Pathogenic 545449 rs374042455 GRCh37: 3:43122166-43122166
GRCh38: 3:43080674-43080674
7 POMGNT2 NM_032806.6(POMGNT2):c.400G>T (p.Glu134Ter) SNV Pathogenic 1034162 GRCh37: 3:43122524-43122524
GRCh38: 3:43081032-43081032
8 POMGNT2 NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter) SNV Likely pathogenic 660661 rs1021357430 GRCh37: 3:43121882-43121882
GRCh38: 3:43080390-43080390
9 POMGNT2 NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) Deletion Likely pathogenic 801963 rs774277094 GRCh37: 3:43122306-43122317
GRCh38: 3:43080814-43080825
10 CRPPA , CRPPA-AS1 NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) Microsatellite Likely pathogenic 156455 rs587777798 GRCh37: 7:16298018-16298020
GRCh38: 7:16258393-16258395
11 POMGNT2 NM_032806.6(POMGNT2):c.83A>G (p.His28Arg) SNV Uncertain significance 999608 GRCh37: 3:43122841-43122841
GRCh38: 3:43081349-43081349
12 POMGNT2 NM_032806.6(POMGNT2):c.1255C>T (p.Arg419Trp) SNV Uncertain significance 1005126 GRCh37: 3:43121669-43121669
GRCh38: 3:43080177-43080177
13 POMGNT2 NM_032806.6(POMGNT2):c.1459G>A (p.Glu487Lys) SNV Uncertain significance 1008414 GRCh37: 3:43121465-43121465
GRCh38: 3:43079973-43079973
14 POMGNT2 NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys) SNV Uncertain significance 1010449 GRCh37: 3:43121243-43121243
GRCh38: 3:43079751-43079751
15 POMGNT2 NM_032806.6(POMGNT2):c.1312C>G (p.Arg438Gly) SNV Uncertain significance 1011899 GRCh37: 3:43121612-43121612
GRCh38: 3:43080120-43080120
16 POMGNT2 NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln) SNV Uncertain significance 436370 rs139245562 GRCh37: 3:43122853-43122853
GRCh38: 3:43081361-43081361
17 POMGNT2 NM_032806.6(POMGNT2):c.119G>A (p.Arg40Gln) SNV Uncertain significance 473273 rs146229269 GRCh37: 3:43122805-43122805
GRCh38: 3:43081313-43081313
18 POMGNT2 NM_032806.6(POMGNT2):c.1219C>T (p.Arg407Trp) SNV Uncertain significance 129214 rs138480528 GRCh37: 3:43121705-43121705
GRCh38: 3:43080213-43080213
19 POMGNT2 NM_032806.6(POMGNT2):c.454G>A (p.Val152Met) SNV Uncertain significance 473279 rs201114442 GRCh37: 3:43122470-43122470
GRCh38: 3:43080978-43080978
20 POMGNT2 NM_032806.6(POMGNT2):c.855C>T (p.Gly285=) SNV Uncertain significance 540486 rs763778888 GRCh37: 3:43122069-43122069
GRCh38: 3:43080577-43080577
21 POMGNT2 NM_032806.6(POMGNT2):c.230G>A (p.Arg77His) SNV Uncertain significance 540494 rs769075803 GRCh37: 3:43122694-43122694
GRCh38: 3:43081202-43081202
22 POMGNT2 NM_032806.6(POMGNT2):c.1313G>A (p.Arg438Gln) SNV Uncertain significance 580862 rs371405205 GRCh37: 3:43121611-43121611
GRCh38: 3:43080119-43080119
23 POMGNT2 NM_032806.6(POMGNT2):c.181A>G (p.Met61Val) SNV Uncertain significance 835427 GRCh37: 3:43122743-43122743
GRCh38: 3:43081251-43081251
24 POMGNT2 NM_032806.6(POMGNT2):c.1195G>A (p.Glu399Lys) SNV Uncertain significance 436366 rs754794110 GRCh37: 3:43121729-43121729
GRCh38: 3:43080237-43080237
25 POMGNT2 NM_032806.6(POMGNT2):c.748C>A (p.Pro250Thr) SNV Uncertain significance 838447 GRCh37: 3:43122176-43122176
GRCh38: 3:43080684-43080684
26 POMGNT2 NM_032806.6(POMGNT2):c.734A>G (p.Tyr245Cys) SNV Uncertain significance 849800 GRCh37: 3:43122190-43122190
GRCh38: 3:43080698-43080698
27 POMGNT2 NM_032806.6(POMGNT2):c.594C>T (p.Gly198=) SNV Uncertain significance 853948 GRCh37: 3:43122330-43122330
GRCh38: 3:43080838-43080838
28 POMGNT2 NM_032806.6(POMGNT2):c.352G>A (p.Asp118Asn) SNV Uncertain significance 861295 GRCh37: 3:43122572-43122572
GRCh38: 3:43081080-43081080
29 POMGNT2 NM_032806.6(POMGNT2):c.1234G>T (p.Gly412Trp) SNV Uncertain significance 864439 GRCh37: 3:43121690-43121690
GRCh38: 3:43080198-43080198
30 POMGNT2 NM_032806.6(POMGNT2):c.14C>T (p.Ala5Val) SNV Uncertain significance 935421 GRCh37: 3:43122910-43122910
GRCh38: 3:43081418-43081418
31 POMGNT2 NM_032806.6(POMGNT2):c.1312C>T (p.Arg438Trp) SNV Uncertain significance 937621 GRCh37: 3:43121612-43121612
GRCh38: 3:43080120-43080120
32 POMGNT2 NM_032806.6(POMGNT2):c.109G>A (p.Ala37Thr) SNV Uncertain significance 945112 GRCh37: 3:43122815-43122815
GRCh38: 3:43081323-43081323
33 POMGNT2 NM_032806.6(POMGNT2):c.1321G>A (p.Glu441Lys) SNV Uncertain significance 964568 GRCh37: 3:43121603-43121603
GRCh38: 3:43080111-43080111
34 POMGNT2 NM_032806.6(POMGNT2):c.550G>A (p.Gly184Ser) SNV Uncertain significance 965616 GRCh37: 3:43122374-43122374
GRCh38: 3:43080882-43080882
35 POMGNT2 NM_032806.6(POMGNT2):c.1114G>A (p.Asp372Asn) SNV Uncertain significance 578252 rs147129872 GRCh37: 3:43121810-43121810
GRCh38: 3:43080318-43080318
36 POMGNT2 NM_032806.6(POMGNT2):c.1390G>A (p.Val464Met) SNV Uncertain significance 641229 rs150901131 GRCh37: 3:43121534-43121534
GRCh38: 3:43080042-43080042
37 POMGNT2 NM_032806.6(POMGNT2):c.1007G>A (p.Ser336Asn) SNV Uncertain significance 843491 GRCh37: 3:43121917-43121917
GRCh38: 3:43080425-43080425
38 POMGNT2 NM_032806.6(POMGNT2):c.706C>T (p.Leu236Phe) SNV Uncertain significance 846997 GRCh37: 3:43122218-43122218
GRCh38: 3:43080726-43080726
39 POMGNT2 NM_032806.6(POMGNT2):c.1180C>G (p.Arg394Gly) SNV Uncertain significance 848697 GRCh37: 3:43121744-43121744
GRCh38: 3:43080252-43080252
40 POMGNT2 NM_032806.6(POMGNT2):c.152T>C (p.Ile51Thr) SNV Uncertain significance 937804 GRCh37: 3:43122772-43122772
GRCh38: 3:43081280-43081280
41 POMGNT2 NM_032806.6(POMGNT2):c.529T>A (p.Tyr177Asn) SNV Uncertain significance 941213 GRCh37: 3:43122395-43122395
GRCh38: 3:43080903-43080903
42 POMGNT2 NM_032806.6(POMGNT2):c.451G>C (p.Asp151His) SNV Uncertain significance 945897 GRCh37: 3:43122473-43122473
GRCh38: 3:43080981-43080981
43 POMGNT2 NM_032806.6(POMGNT2):c.229C>T (p.Arg77Cys) SNV Uncertain significance 946630 GRCh37: 3:43122695-43122695
GRCh38: 3:43081203-43081203
44 POMGNT2 NM_032806.6(POMGNT2):c.1507A>G (p.Thr503Ala) SNV Uncertain significance 946809 GRCh37: 3:43121417-43121417
GRCh38: 3:43079925-43079925
45 POMGNT2 NM_032806.6(POMGNT2):c.329G>A (p.Arg110Gln) SNV Uncertain significance 961733 GRCh37: 3:43122595-43122595
GRCh38: 3:43081103-43081103
46 POMGNT2 NM_032806.6(POMGNT2):c.154G>A (p.Asp52Asn) SNV Uncertain significance 968117 GRCh37: 3:43122770-43122770
GRCh38: 3:43081278-43081278
47 POMGNT2 NM_032806.6(POMGNT2):c.326C>T (p.Ser109Phe) SNV Uncertain significance 1013848 GRCh37: 3:43122598-43122598
GRCh38: 3:43081106-43081106
48 POMGNT2 NM_032806.6(POMGNT2):c.1313G>T (p.Arg438Leu) SNV Uncertain significance 1015540 GRCh37: 3:43121611-43121611
GRCh38: 3:43080119-43080119
49 POMGNT2 NM_032806.6(POMGNT2):c.174G>C (p.Gln58His) SNV Uncertain significance 1017586 GRCh37: 3:43122750-43122750
GRCh38: 3:43081258-43081258
50 POMGNT2 NM_032806.6(POMGNT2):c.629G>T (p.Ser210Ile) SNV Uncertain significance 1017646 GRCh37: 3:43122295-43122295
GRCh38: 3:43080803-43080803

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

72
# Symbol AA change Variation ID SNP ID
1 POMGNT2 p.Arg158His VAR_068967 rs387907300

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

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 POMGNT2 CRPPA

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

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.96 POMGNT2 CRPPA
2 protein O-linked mannosylation GO:0035269 8.62 POMGNT2 CRPPA

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 8

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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