MDDGA10
MCID: MSC107
MIFTS: 24

Muscular Dystrophy-Dystroglycanopathy , Type a, 10 (MDDGA10)

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, 10

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 10 58 76 30 13 6 74
Mddga10 58 76
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A10 76
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Tmem5-Related 58
Muscle-Eye-Brain Disease Tmem5-Related 76
Walker-Warburg Syndrome Tmem5-Related 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
death in utero


HPO:

33
muscular dystrophy-dystroglycanopathy , type a, 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

OMIM : 58 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 brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). 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 Vuillaumier-Barrot et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615041)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 10, is also known as mddga10. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 10 is RXYLT1 (Ribitol Xylosyltransferase 1). Affiliated tissues include eye and brain, and related phenotypes are retinal dysplasia and cerebellar dysplasia

UniProtKB/Swiss-Prot : 76 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10: 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, 10

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, 10

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

33
# Description HPO Frequency HPO Source Accession
1 retinal dysplasia 33 HP:0007973
2 cerebellar dysplasia 33 HP:0007033
3 muscular dystrophy 33 HP:0003560
4 gonadal dysgenesis 33 HP:0000133
5 type ii lissencephaly 33 HP:0007260

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal dysplasia

Genitourinary Internal Genitalia Male:
gonadal dysgenesis

Abdomen:
visceral malformations

Neurologic Central Nervous System:
cerebellar dysplasia
cobblestone lissencephaly
occipital neural tube defects

Genitourinary Internal Genitalia Female:
gonadal dysgenesis

Skeletal Limbs:
limb deformation (rare)

Clinical features from OMIM:

615041

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 10 30 RXYLT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

42
Eye, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

# Title Authors Year
1
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. ( 23519211 )
2013
2
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. ( 23217329 )
2012

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

76
# Symbol AA change Variation ID SNP ID
1 RXYLT1 p.Tyr339Cys VAR_069738 rs150736997
2 RXYLT1 p.Arg340Leu VAR_069739 rs397514544

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 10:

6 (show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 RXYLT1 NM_014254.2(RXYLT1): c.795delG (p.Arg266Glyfs) deletion Pathogenic rs397514543 GRCh37 Chromosome 12, 64199065: 64199065
2 RXYLT1 NM_014254.2(RXYLT1): c.795delG (p.Arg266Glyfs) deletion Pathogenic rs397514543 GRCh38 Chromosome 12, 63805285: 63805285
3 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150736997 GRCh37 Chromosome 12, 64202556: 64202556
4 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150736997 GRCh38 Chromosome 12, 63808776: 63808776
5 RXYLT1 NM_014254.2(RXYLT1): c.1019_1020delGAinsTT (p.Arg340Leu) indel Uncertain significance rs397514544 GRCh37 Chromosome 12, 64202559: 64202560
6 RXYLT1 NM_014254.2(RXYLT1): c.1019_1020delGAinsTT (p.Arg340Leu) indel Uncertain significance rs397514544 GRCh38 Chromosome 12, 63808779: 63808780
7 RXYLT1 NM_014254.2(RXYLT1): c.1064_1091del (p.Asp355Valfs) deletion Pathogenic rs397514545 GRCh37 Chromosome 12, 64202604: 64202631
8 RXYLT1 NM_014254.2(RXYLT1): c.1064_1091del (p.Asp355Valfs) deletion Pathogenic rs397514545 GRCh38 Chromosome 12, 63808824: 63808851
9 RXYLT1 NM_014254.2(RXYLT1): c.279delA (p.Gly94Glufs) deletion Pathogenic rs397514546 GRCh37 Chromosome 12, 64174908: 64174908
10 RXYLT1 NM_014254.2(RXYLT1): c.279delA (p.Gly94Glufs) deletion Pathogenic rs397514546 GRCh38 Chromosome 12, 63781128: 63781128
11 RXYLT1 NM_014254.2(RXYLT1): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs397514695 GRCh37 Chromosome 12, 64202558: 64202558
12 RXYLT1 NM_014254.2(RXYLT1): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs397514695 GRCh38 Chromosome 12, 63808778: 63808778
13 RXYLT1 NM_014254.2(RXYLT1): c.139delG (p.Ala47Argfs) deletion Pathogenic rs397514696 GRCh37 Chromosome 12, 64173879: 64173879
14 RXYLT1 NM_014254.2(RXYLT1): c.139delG (p.Ala47Argfs) deletion Pathogenic rs397514696 GRCh38 Chromosome 12, 63780099: 63780099
15 RXYLT1 NM_014254.2(RXYLT1): c.469G> A (p.Val157Ile) single nucleotide variant Benign rs114036100 GRCh37 Chromosome 12, 64195911: 64195911
16 RXYLT1 NM_014254.2(RXYLT1): c.469G> A (p.Val157Ile) single nucleotide variant Benign rs114036100 GRCh38 Chromosome 12, 63802131: 63802131
17 RXYLT1 NM_014254.2(RXYLT1): c.252C> T (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs141095352 GRCh37 Chromosome 12, 64174881: 64174881
18 RXYLT1 NM_014254.2(RXYLT1): c.252C> T (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs141095352 GRCh38 Chromosome 12, 63781101: 63781101
19 RXYLT1 NM_014254.2(RXYLT1): c.250A> G (p.Ser84Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs745327804 GRCh37 Chromosome 12, 64174879: 64174879
20 RXYLT1 NM_014254.2(RXYLT1): c.250A> G (p.Ser84Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs745327804 GRCh38 Chromosome 12, 63781099: 63781099
21 RXYLT1 NM_014254.2(RXYLT1): c.275C> T (p.Thr92Met) single nucleotide variant Conflicting interpretations of pathogenicity rs73122634 GRCh37 Chromosome 12, 64174904: 64174904
22 RXYLT1 NM_014254.2(RXYLT1): c.275C> T (p.Thr92Met) single nucleotide variant Conflicting interpretations of pathogenicity rs73122634 GRCh38 Chromosome 12, 63781124: 63781124
23 RXYLT1 NM_014254.2(RXYLT1): c.1226A> G (p.Glu409Gly) single nucleotide variant Benign rs141536395 GRCh37 Chromosome 12, 64202766: 64202766
24 RXYLT1 NM_014254.2(RXYLT1): c.1226A> G (p.Glu409Gly) single nucleotide variant Benign rs141536395 GRCh38 Chromosome 12, 63808986: 63808986
25 RXYLT1 NM_014254.2(RXYLT1): c.603C> T (p.Leu201=) single nucleotide variant Benign rs146732392 GRCh37 Chromosome 12, 64196045: 64196045
26 RXYLT1 NM_014254.2(RXYLT1): c.603C> T (p.Leu201=) single nucleotide variant Benign rs146732392 GRCh38 Chromosome 12, 63802265: 63802265
27 RXYLT1 NM_014254.2(RXYLT1): c.294C> T (p.Leu98=) single nucleotide variant Benign/Likely benign rs114694892 GRCh37 Chromosome 12, 64174923: 64174923
28 RXYLT1 NM_014254.2(RXYLT1): c.294C> T (p.Leu98=) single nucleotide variant Benign/Likely benign rs114694892 GRCh38 Chromosome 12, 63781143: 63781143
29 RXYLT1 NM_014254.2(RXYLT1): c.825G> A (p.Thr275=) single nucleotide variant Benign/Likely benign rs115076664 GRCh37 Chromosome 12, 64199095: 64199095
30 RXYLT1 NM_014254.2(RXYLT1): c.825G> A (p.Thr275=) single nucleotide variant Benign/Likely benign rs115076664 GRCh38 Chromosome 12, 63805315: 63805315
31 RXYLT1 NM_014254.2(RXYLT1): c.1091A> C (p.Asn364Thr) single nucleotide variant Uncertain significance rs144060489 GRCh38 Chromosome 12, 63808851: 63808851
32 RXYLT1 NM_014254.2(RXYLT1): c.1091A> C (p.Asn364Thr) single nucleotide variant Uncertain significance rs144060489 GRCh37 Chromosome 12, 64202631: 64202631
33 RXYLT1 NM_014254.2(RXYLT1): c.914+6T> G single nucleotide variant Uncertain significance rs748809209 GRCh37 Chromosome 12, 64199190: 64199190
34 RXYLT1 NM_014254.2(RXYLT1): c.914+6T> G single nucleotide variant Uncertain significance rs748809209 GRCh38 Chromosome 12, 63805410: 63805410
35 RXYLT1 NM_014254.2(RXYLT1): c.123_150del28 (p.Leu43Argfs) deletion Pathogenic/Likely pathogenic rs748590408 GRCh37 Chromosome 12, 64173863: 64173890
36 RXYLT1 NM_014254.2(RXYLT1): c.123_150del28 (p.Leu43Argfs) deletion Pathogenic/Likely pathogenic rs748590408 GRCh38 Chromosome 12, 63780083: 63780110
37 RXYLT1 NM_014254.2(RXYLT1): c.113G> A (p.Gly38Glu) single nucleotide variant Uncertain significance rs376486641 GRCh37 Chromosome 12, 64173853: 64173853
38 RXYLT1 NM_014254.2(RXYLT1): c.113G> A (p.Gly38Glu) single nucleotide variant Uncertain significance rs376486641 GRCh38 Chromosome 12, 63780073: 63780073
39 RXYLT1 NM_014254.2(RXYLT1): c.246A> C (p.Lys82Asn) single nucleotide variant Uncertain significance rs1555225967 GRCh37 Chromosome 12, 64174875: 64174875
40 RXYLT1 NM_014254.2(RXYLT1): c.246A> C (p.Lys82Asn) single nucleotide variant Uncertain significance rs1555225967 GRCh38 Chromosome 12, 63781095: 63781095
41 RXYLT1 NM_014254.2(RXYLT1): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs188655071 GRCh38 Chromosome 12, 63785017: 63785017
42 RXYLT1 NM_014254.2(RXYLT1): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs188655071 GRCh37 Chromosome 12, 64178797: 64178797
43 RXYLT1 NM_014254.2(RXYLT1): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs866198592 GRCh38 Chromosome 12, 63808680: 63808680
44 RXYLT1 NM_014254.2(RXYLT1): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs866198592 GRCh37 Chromosome 12, 64202460: 64202460
45 RXYLT1 NM_014254.2(RXYLT1): c.970C> T (p.Gln324Ter) single nucleotide variant Likely pathogenic rs1555228198 GRCh37 Chromosome 12, 64202510: 64202510
46 RXYLT1 NM_014254.2(RXYLT1): c.970C> T (p.Gln324Ter) single nucleotide variant Likely pathogenic rs1555228198 GRCh38 Chromosome 12, 63808730: 63808730
47 RXYLT1 NM_014254.2(RXYLT1): c.1272G> A (p.Glu424=) single nucleotide variant Likely benign rs536862073 GRCh38 Chromosome 12, 63809032: 63809032
48 RXYLT1 NM_014254.2(RXYLT1): c.1272G> A (p.Glu424=) single nucleotide variant Likely benign rs536862073 GRCh37 Chromosome 12, 64202812: 64202812
49 RXYLT1 NM_014254.2(RXYLT1): c.237C> G (p.His79Gln) single nucleotide variant Uncertain significance rs200620643 GRCh37 Chromosome 12, 64174866: 64174866
50 RXYLT1 NM_014254.2(RXYLT1): c.237C> G (p.His79Gln) single nucleotide variant Uncertain significance rs200620643 GRCh38 Chromosome 12, 63781086: 63781086

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 10.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....