MCID: MSC107
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type a, 10

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, 10

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 10 57 29 13 6 73
Mddga10 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A10 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Tmem5-Related 57
Muscle-Eye-Brain Disease Tmem5-Related 75
Walker-Warburg Syndrome Tmem5-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

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 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 brain and eye, and related phenotypes are gonadal dysgenesis and muscular dystrophy

UniProtKB/Swiss-Prot : 75 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 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, 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal dysplasia

GenitourinaryInternal GenitaliaMale:
gonadal dysgenesis

Skeletal Limbs:
limb deformation (rare)

Abdomen:
visceral malformations

Genitourinary Internal Genitalia Female:
gonadal dysgenesis

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


Clinical features from OMIM:

615041

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

32
# Description HPO Frequency HPO Source Accession
1 gonadal dysgenesis 32 HP:0000133
2 muscular dystrophy 32 HP:0003560
3 cerebellar dysplasia 32 HP:0007033
4 type ii lissencephaly 32 HP:0007260
5 retinal dysplasia 32 HP:0007973

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 29 RXYLT1

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

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

41
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

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

75
# 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 60)
# 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 Likely pathogenic rs150736997 GRCh37 Chromosome 12, 64202556: 64202556
4 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Likely pathogenic rs150736997 GRCh38 Chromosome 12, 63808776: 63808776
5 RXYLT1 NM_014254.2(RXYLT1): c.1019_1020delGAinsTT (p.Arg340Leu) indel Pathogenic rs397514544 GRCh37 Chromosome 12, 64202559: 64202560
6 RXYLT1 NM_014254.2(RXYLT1): c.1019_1020delGAinsTT (p.Arg340Leu) indel Pathogenic rs397514544 GRCh38 Chromosome 12, 63808779: 63808780
7 RXYLT1 NM_014254.2(RXYLT1): c.1064_1091del28 (p.Asp355Valfs) deletion Pathogenic rs397514545 GRCh37 Chromosome 12, 64202604: 64202631
8 RXYLT1 NM_014254.2(RXYLT1): c.1064_1091del28 (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.252C> T (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs141095352 GRCh37 Chromosome 12, 64174881: 64174881
16 RXYLT1 NM_014254.2(RXYLT1): c.252C> T (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs141095352 GRCh38 Chromosome 12, 63781101: 63781101
17 RXYLT1 NM_014254.2(RXYLT1): c.275C> T (p.Thr92Met) single nucleotide variant Conflicting interpretations of pathogenicity rs73122634 GRCh37 Chromosome 12, 64174904: 64174904
18 RXYLT1 NM_014254.2(RXYLT1): c.275C> T (p.Thr92Met) single nucleotide variant Conflicting interpretations of pathogenicity rs73122634 GRCh38 Chromosome 12, 63781124: 63781124
19 RXYLT1 NM_014254.2(RXYLT1): c.1226A> G (p.Glu409Gly) single nucleotide variant Benign rs141536395 GRCh37 Chromosome 12, 64202766: 64202766
20 RXYLT1 NM_014254.2(RXYLT1): c.1226A> G (p.Glu409Gly) single nucleotide variant Benign rs141536395 GRCh38 Chromosome 12, 63808986: 63808986
21 RXYLT1 NM_014254.2(RXYLT1): c.603C> T (p.Leu201=) single nucleotide variant Benign rs146732392 GRCh37 Chromosome 12, 64196045: 64196045
22 RXYLT1 NM_014254.2(RXYLT1): c.603C> T (p.Leu201=) single nucleotide variant Benign rs146732392 GRCh38 Chromosome 12, 63802265: 63802265
23 RXYLT1 NM_014254.2(RXYLT1): c.294C> T (p.Leu98=) single nucleotide variant Benign/Likely benign rs114694892 GRCh37 Chromosome 12, 64174923: 64174923
24 RXYLT1 NM_014254.2(RXYLT1): c.294C> T (p.Leu98=) single nucleotide variant Benign/Likely benign rs114694892 GRCh38 Chromosome 12, 63781143: 63781143
25 RXYLT1 NM_014254.2(RXYLT1): c.825G> A (p.Thr275=) single nucleotide variant Benign/Likely benign rs115076664 GRCh38 Chromosome 12, 63805315: 63805315
26 RXYLT1 NM_014254.2(RXYLT1): c.825G> A (p.Thr275=) single nucleotide variant Benign/Likely benign rs115076664 GRCh37 Chromosome 12, 64199095: 64199095
27 RXYLT1 NM_014254.2(RXYLT1): c.1091A> C (p.Asn364Thr) single nucleotide variant Uncertain significance rs144060489 GRCh38 Chromosome 12, 63808851: 63808851
28 RXYLT1 NM_014254.2(RXYLT1): c.1091A> C (p.Asn364Thr) single nucleotide variant Uncertain significance rs144060489 GRCh37 Chromosome 12, 64202631: 64202631
29 RXYLT1 NM_014254.2(RXYLT1): c.113G> A (p.Gly38Glu) single nucleotide variant Uncertain significance rs376486641 GRCh37 Chromosome 12, 64173853: 64173853
30 RXYLT1 NM_014254.2(RXYLT1): c.113G> A (p.Gly38Glu) single nucleotide variant Uncertain significance rs376486641 GRCh38 Chromosome 12, 63780073: 63780073
31 RXYLT1 NM_014254.2(RXYLT1): c.246A> C (p.Lys82Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 64174875: 64174875
32 RXYLT1 NM_014254.2(RXYLT1): c.246A> C (p.Lys82Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 63781095: 63781095
33 RXYLT1 NM_014254.2(RXYLT1): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs188655071 GRCh38 Chromosome 12, 63785017: 63785017
34 RXYLT1 NM_014254.2(RXYLT1): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs188655071 GRCh37 Chromosome 12, 64178797: 64178797
35 RXYLT1 NM_014254.2(RXYLT1): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs866198592 GRCh38 Chromosome 12, 63808680: 63808680
36 RXYLT1 NM_014254.2(RXYLT1): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs866198592 GRCh37 Chromosome 12, 64202460: 64202460
37 RXYLT1 NM_014254.2(RXYLT1): c.970C> T (p.Gln324Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 64202510: 64202510
38 RXYLT1 NM_014254.2(RXYLT1): c.970C> T (p.Gln324Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 63808730: 63808730
39 RXYLT1 NM_014254.2(RXYLT1): c.1272G> A (p.Glu424=) single nucleotide variant Likely benign rs536862073 GRCh38 Chromosome 12, 63809032: 63809032
40 RXYLT1 NM_014254.2(RXYLT1): c.1272G> A (p.Glu424=) single nucleotide variant Likely benign rs536862073 GRCh37 Chromosome 12, 64202812: 64202812
41 RXYLT1 NM_014254.2(RXYLT1): c.237C> G (p.His79Gln) single nucleotide variant Uncertain significance rs200620643 GRCh38 Chromosome 12, 63781086: 63781086
42 RXYLT1 NM_014254.2(RXYLT1): c.237C> G (p.His79Gln) single nucleotide variant Uncertain significance rs200620643 GRCh37 Chromosome 12, 64174866: 64174866
43 RXYLT1 NM_014254.2(RXYLT1): c.184G> A (p.Glu62Lys) single nucleotide variant Uncertain significance rs200250516 GRCh38 Chromosome 12, 63781033: 63781033
44 RXYLT1 NM_014254.2(RXYLT1): c.184G> A (p.Glu62Lys) single nucleotide variant Uncertain significance rs200250516 GRCh37 Chromosome 12, 64174813: 64174813
45 RXYLT1 NM_014254.2(RXYLT1): c.43C> T (p.Leu15=) single nucleotide variant Likely benign rs770861350 GRCh37 Chromosome 12, 64173783: 64173783
46 RXYLT1 NM_014254.2(RXYLT1): c.43C> T (p.Leu15=) single nucleotide variant Likely benign rs770861350 GRCh38 Chromosome 12, 63780003: 63780003
47 RXYLT1 NM_014254.2(RXYLT1): c.1170G> A (p.Lys390=) single nucleotide variant Likely benign rs145999803 GRCh37 Chromosome 12, 64202710: 64202710
48 RXYLT1 NM_014254.2(RXYLT1): c.1170G> A (p.Lys390=) single nucleotide variant Likely benign rs145999803 GRCh38 Chromosome 12, 63808930: 63808930
49 RXYLT1 NM_014254.2(RXYLT1): c.84C> T (p.Phe28=) single nucleotide variant Likely benign rs200123669 GRCh37 Chromosome 12, 64173824: 64173824
50 RXYLT1 NM_014254.2(RXYLT1): c.84C> T (p.Phe28=) single nucleotide variant Likely benign rs200123669 GRCh38 Chromosome 12, 63780044: 63780044

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

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