MDDGA10
MCID: MSC107
MIFTS: 25

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 57 74 29 13 6 72
Mddga10 57 74
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A10 74
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Tmem5-Related 57
Muscle-Eye-Brain Disease Tmem5-Related 74
Walker-Warburg Syndrome Tmem5-Related 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in utero


HPO:

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


Classifications:



External Ids:

MeSH 44 D058494
UMLS 72 C3554381

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, also known as mddga10, is related to congenital muscular dystrophy-dystroglycanopathy type a10. 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 retinal dysplasia and muscular dystrophy

UniProtKB/Swiss-Prot : 74 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
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, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a10 11.3

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

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

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

Symptoms via clinical synopsis from OMIM:

57
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 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

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

# Title Authors PMID Year
1
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 8 71
23519211 2013
2
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 8 71
23217329 2012
3
Congenital Muscular Dystrophy Overview 71
20301468 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

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

6 (show all 46)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RXYLT1 NM_014254.3(RXYLT1): c.795del (p.Arg266fs) deletion Pathogenic rs397514543 12:64199065-64199065 12:63805285-63805285
2 RXYLT1 NM_014254.3(RXYLT1): c.1064_1091del (p.Asp355fs) deletion Pathogenic rs397514545 12:64202604-64202631 12:63808824-63808851
3 RXYLT1 NM_014254.3(RXYLT1): c.279del (p.Gly94fs) deletion Pathogenic rs397514546 12:64174908-64174908 12:63781128-63781128
4 RXYLT1 NM_014254.3(RXYLT1): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs397514695 12:64202558-64202558 12:63808778-63808778
5 RXYLT1 NM_014254.3(RXYLT1): c.139del (p.Ala47fs) deletion Pathogenic rs397514696 12:64173879-64173879 12:63780099-63780099
6 RXYLT1 NM_014254.3(RXYLT1): c.649del (p.Arg217fs) deletion Pathogenic 12:64196091-64196091 12:63802311-63802311
7 RXYLT1 NM_014254.3(RXYLT1): c.123_150del (p.Leu43fs) deletion Pathogenic/Likely pathogenic rs748590408 12:64173863-64173890 12:63780083-63780110
8 RXYLT1 NM_014254.3(RXYLT1): c.970C> T (p.Gln324Ter) single nucleotide variant Likely pathogenic rs1555228198 12:64202510-64202510 12:63808730-63808730
9 RXYLT1 NM_014254.3(RXYLT1): c.743+1G> A single nucleotide variant Likely pathogenic 12:64196186-64196186 12:63802406-63802406
10 RXYLT1 NM_014254.3(RXYLT1): c.170-1del deletion Likely pathogenic 12:64174798-64174798 12:63781018-63781018
11 RXYLT1 NM_014254.3(RXYLT1): c.390G> A (p.Trp130Ter) single nucleotide variant Likely pathogenic 12:64178814-64178814 12:63785034-63785034
12 RXYLT1 NM_014254.3(RXYLT1): c.252C> T (p.Ser84=) single nucleotide variant Conflicting interpretations of pathogenicity rs141095352 12:64174881-64174881 12:63781101-63781101
13 RXYLT1 NM_014254.3(RXYLT1): c.275C> T (p.Thr92Met) single nucleotide variant Conflicting interpretations of pathogenicity rs73122634 12:64174904-64174904 12:63781124-63781124
14 RXYLT1 NM_014254.3(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150736997 12:64202556-64202556 12:63808776-63808776
15 RXYLT1 NM_014254.3(RXYLT1): c.1019_1020delinsTT (p.Arg340Leu) indel Uncertain significance rs397514544 12:64202559-64202560 12:63808779-63808780
16 RXYLT1 NM_014254.3(RXYLT1): c.1103A> C (p.His368Pro) single nucleotide variant Uncertain significance 12:64202643-64202643 12:63808863-63808863
17 RXYLT1 NM_014254.3(RXYLT1): c.1147_1152TTTATC[1] (p.383_384FI[1]) short repeat Uncertain significance 12:64202693-64202698 12:63808913-63808918
18 RXYLT1 NM_014254.3(RXYLT1): c.533C> G (p.Thr178Ser) single nucleotide variant Uncertain significance 12:64195975-64195975 12:63802195-63802195
19 RXYLT1 NM_014254.3(RXYLT1): c.163G> C (p.Gly55Arg) single nucleotide variant Uncertain significance 12:64173903-64173903 12:63780123-63780123
20 RXYLT1 NM_014254.3(RXYLT1): c.113G> A (p.Gly38Glu) single nucleotide variant Uncertain significance rs376486641 12:64173853-64173853 12:63780073-63780073
21 RXYLT1 NM_014254.3(RXYLT1): c.246A> C (p.Lys82Asn) single nucleotide variant Uncertain significance rs1555225967 12:64174875-64174875 12:63781095-63781095
22 RXYLT1 NM_014254.3(RXYLT1): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs188655071 12:64178797-64178797 12:63785017-63785017
23 RXYLT1 NM_014254.3(RXYLT1): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs866198592 12:64202460-64202460 12:63808680-63808680
24 RXYLT1 NM_014254.3(RXYLT1): c.1091A> C (p.Asn364Thr) single nucleotide variant Uncertain significance rs144060489 12:64202631-64202631 12:63808851-63808851
25 RXYLT1 NM_014254.3(RXYLT1): c.914+6T> G single nucleotide variant Uncertain significance rs748809209 12:64199190-64199190 12:63805410-63805410
26 RXYLT1 NM_014254.3(RXYLT1): c.184G> A (p.Glu62Lys) single nucleotide variant Uncertain significance rs200250516 12:64174813-64174813 12:63781033-63781033
27 RXYLT1 NM_014254.3(RXYLT1): c.17A> G (p.Lys6Arg) single nucleotide variant Uncertain significance rs145516652 12:64173757-64173757 12:63779977-63779977
28 RXYLT1 NM_014254.3(RXYLT1): c.146C> G (p.Pro49Arg) single nucleotide variant Uncertain significance rs1555225874 12:64173886-64173886 12:63780106-63780106
29 RXYLT1 NM_014254.3(RXYLT1): c.56T> C (p.Phe19Ser) single nucleotide variant Uncertain significance rs375086772 12:64173796-64173796 12:63780016-63780016
30 RXYLT1 NM_014254.3(RXYLT1): c.159A> T (p.Arg53Ser) single nucleotide variant Uncertain significance 12:64173899-64173899 12:63780119-63780119
31 RXYLT1 NM_014254.3(RXYLT1): c.267T> A (p.Asp89Glu) single nucleotide variant Uncertain significance 12:64174896-64174896 12:63781116-63781116
32 RXYLT1 NM_014254.3(RXYLT1): c.268A> G (p.Lys90Glu) single nucleotide variant Uncertain significance 12:64174897-64174897 12:63781117-63781117
33 RXYLT1 NM_014254.3(RXYLT1): c.604G> A (p.Gly202Arg) single nucleotide variant Uncertain significance 12:64196046-64196046 12:63802266-63802266
34 RXYLT1 NM_014254.3(RXYLT1): c.1105del (p.His369fs) deletion Uncertain significance 12:64202645-64202645 12:63808865-63808865
35 RXYLT1 NC_000012.11: g.(?_64198994)_(64199204_?)dup duplication Uncertain significance 12:64198994-64199204 12:63805214-63805424
36 RXYLT1 NM_014254.3(RXYLT1): c.1088G> A (p.Gly363Glu) single nucleotide variant Uncertain significance rs1003835285 12:64202628-64202628 12:63808848-63808848
37 RXYLT1 NM_014254.3(RXYLT1): c.1074A> C (p.Thr358=) single nucleotide variant Likely benign rs148356495 12:64202614-64202614 12:63808834-63808834
38 RXYLT1 NM_014254.3(RXYLT1): c.43C> T (p.Leu15=) single nucleotide variant Likely benign rs770861350 12:64173783-64173783 12:63780003-63780003
39 RXYLT1 NM_014254.3(RXYLT1): c.1170G> A (p.Lys390=) single nucleotide variant Likely benign rs145999803 12:64202710-64202710 12:63808930-63808930
40 RXYLT1 NM_014254.3(RXYLT1): c.84C> T (p.Phe28=) single nucleotide variant Likely benign rs200123669 12:64173824-64173824 12:63780044-63780044
41 RXYLT1 NM_014254.3(RXYLT1): c.1272G> A (p.Glu424=) single nucleotide variant Likely benign rs536862073 12:64202812-64202812 12:63809032-63809032
42 RXYLT1 NM_014254.3(RXYLT1): c.294C> T (p.Leu98=) single nucleotide variant Benign/Likely benign rs114694892 12:64174923-64174923 12:63781143-63781143
43 RXYLT1 NM_014254.3(RXYLT1): c.825G> A (p.Thr275=) single nucleotide variant Benign/Likely benign rs115076664 12:64199095-64199095 12:63805315-63805315
44 RXYLT1 NM_014254.3(RXYLT1): c.469G> A (p.Val157Ile) single nucleotide variant Benign rs114036100 12:64195911-64195911 12:63802131-63802131
45 RXYLT1 NM_014254.3(RXYLT1): c.1226A> G (p.Glu409Gly) single nucleotide variant Benign rs141536395 12:64202766-64202766 12:63808986-63808986
46 RXYLT1 NM_014254.3(RXYLT1): c.603C> T (p.Leu201=) single nucleotide variant Benign rs146732392 12:64196045-64196045 12:63802265-63802265

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

74
# Symbol AA change Variation ID SNP ID
1 RXYLT1 p.Tyr339Cys VAR_069738 rs150736997
2 RXYLT1 p.Arg340Leu VAR_069739 rs397514544

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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