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 56 73 29 13 6 71
Mddga10 56 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A10 73
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Tmem5-Related 56
Muscle-Eye-Brain Disease Tmem5-Related 73
Walker-Warburg Syndrome Tmem5-Related 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
death in utero


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 615041
OMIM Phenotypic Series 56 PS236670
MeSH 43 D058494
UMLS 71 C3554381

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

OMIM : 56 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 eye and brain, and related phenotypes are muscular dystrophy and gonadal dysgenesis

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 muscular dystrophy 31 HP:0003560
2 gonadal dysgenesis 31 HP:0000133
3 retinal dysplasia 31 HP:0007973
4 type ii lissencephaly 31 HP:0007260
5 cerebellar dysplasia 31 HP:0007033

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
gonadal dysgenesis

Head And Neck Eyes:
retinal dysplasia

Abdomen:
visceral malformations

Genitourinary Internal Genitalia Female:
gonadal dysgenesis

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

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:

40
Eye, Brain

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. 56 6
23519211 2013
2
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 6 56
23217329 2012
3
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 10

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

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RXYLT1 NM_014254.3(RXYLT1):c.649del (p.Arg217fs)deletion Pathogenic 583374 rs948674144 12:64196088-64196088 12:63802308-63802308
2 RXYLT1 NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs)deletion Pathogenic 39606 rs397514545 12:64202604-64202631 12:63808824-63808851
3 RXYLT1 NM_014254.3(RXYLT1):c.279del (p.Gly94fs)deletion Pathogenic 39607 rs397514546 12:64174906-64174906 12:63781126-63781126
4 RXYLT1 NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter)SNV Pathogenic 50606 rs397514695 12:64202558-64202558 12:63808778-63808778
5 RXYLT1 NM_014254.3(RXYLT1):c.139del (p.Ala47fs)deletion Pathogenic 50607 rs397514696 12:64173875-64173875 12:63780095-63780095
6 RXYLT1 NM_014254.3(RXYLT1):c.795del (p.Arg266fs)deletion Pathogenic 39603 rs397514543 12:64199065-64199065 12:63805285-63805285
7 RXYLT1 NM_014254.3(RXYLT1):c.390G>A (p.Trp130Ter)SNV Likely pathogenic 634990 rs1565899712 12:64178814-64178814 12:63785034-63785034
8 RXYLT1 NM_014254.3(RXYLT1):c.170-1deldeletion Likely pathogenic 575778 rs1565898123 12:64174798-64174798 12:63781018-63781018
9 RXYLT1 NM_014254.3(RXYLT1):c.970C>T (p.Gln324Ter)SNV Likely pathogenic 473418 rs1555228198 12:64202510-64202510 12:63808730-63808730
10 RXYLT1 NM_014254.3(RXYLT1):c.743+1G>ASNV Likely pathogenic 578816 rs778174763 12:64196186-64196186 12:63802406-63802406
11 RXYLT1 NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys)SNV Conflicting interpretations of pathogenicity 39604 rs150736997 12:64202556-64202556 12:63808776-63808776
12 RXYLT1 NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu)indel Uncertain significance 39605 rs397514544 12:64202559-64202560 12:63808779-63808780
13 RXYLT1 NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg)SNV Uncertain significance 473417 rs866198592 12:64202460-64202460 12:63808680-63808680
14 RXYLT1 NM_014254.3(RXYLT1):c.159A>T (p.Arg53Ser)SNV Uncertain significance 641271 12:64173899-64173899 12:63780119-63780119
15 RXYLT1 NM_014254.3(RXYLT1):c.267T>A (p.Asp89Glu)SNV Uncertain significance 649380 12:64174896-64174896 12:63781116-63781116
16 RXYLT1 NM_014254.3(RXYLT1):c.268A>G (p.Lys90Glu)SNV Uncertain significance 656495 12:64174897-64174897 12:63781117-63781117
17 RXYLT1 NM_014254.3(RXYLT1):c.604G>A (p.Gly202Arg)SNV Uncertain significance 639854 12:64196046-64196046 12:63802266-63802266
18 RXYLT1 NM_014254.3(RXYLT1):c.1103A>C (p.His368Pro)SNV Uncertain significance 569110 rs1565908832 12:64202643-64202643 12:63808863-63808863
19 RXYLT1 NM_014254.3(RXYLT1):c.1147_1152TTTATC[1] (p.383_384FI[1])short repeat Uncertain significance 565680 rs767728184 12:64202686-64202691 12:63808906-63808911
20 RXYLT1 NM_014254.3(RXYLT1):c.1105del (p.His369fs)deletion Uncertain significance 571027 rs759632078 12:64202644-64202644 12:63808864-63808864
21 RXYLT1 NC_000012.11:g.(?_64198994)_(64199204_?)dupduplication Uncertain significance 583870 12:64198994-64199204 12:63805214-63805424
22 RXYLT1 NM_014254.3(RXYLT1):c.914+6T>GSNV Uncertain significance 429848 rs748809209 12:64199190-64199190 12:63805410-63805410
23 RXYLT1 NM_014254.3(RXYLT1):c.113G>A (p.Gly38Glu)SNV Uncertain significance 473411 rs376486641 12:64173853-64173853 12:63780073-63780073
24 RXYLT1 NM_014254.3(RXYLT1):c.246A>C (p.Lys82Asn)SNV Uncertain significance 473415 rs1555225967 12:64174875-64174875 12:63781095-63781095
25 RXYLT1 NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg)SNV Uncertain significance 540603 rs145516652 12:64173757-64173757 12:63779977-63779977
26 RXYLT1 NM_014254.3(RXYLT1):c.146C>G (p.Pro49Arg)SNV Uncertain significance 540605 rs1555225874 12:64173886-64173886 12:63780106-63780106
27 RXYLT1 NM_014254.3(RXYLT1):c.56T>C (p.Phe19Ser)SNV Uncertain significance 540606 rs375086772 12:64173796-64173796 12:63780016-63780016
28 RXYLT1 NM_014254.3(RXYLT1):c.1088G>A (p.Gly363Glu)SNV Uncertain significance 540604 rs1003835285 12:64202628-64202628 12:63808848-63808848
29 RXYLT1 NM_014254.3(RXYLT1):c.533C>G (p.Thr178Ser)SNV Uncertain significance 578015 rs755132657 12:64195975-64195975 12:63802195-63802195
30 RXYLT1 NM_014254.3(RXYLT1):c.163G>C (p.Gly55Arg)SNV Uncertain significance 570259 rs1565897565 12:64173903-64173903 12:63780123-63780123
31 RXYLT1 NM_014254.3(RXYLT1):c.373G>C (p.Asp125His)SNV Likely benign 473416 rs188655071 12:64178797-64178797 12:63785017-63785017
32 RXYLT1 NM_014254.3(RXYLT1):c.1272G>A (p.Glu424=)SNV Likely benign 473412 rs536862073 12:64202812-64202812 12:63809032-63809032
33 RXYLT1 NM_014254.3(RXYLT1):c.43C>T (p.Leu15=)SNV Likely benign 517865 rs770861350 12:64173783-64173783 12:63780003-63780003
34 RXYLT1 NM_014254.3(RXYLT1):c.144C>G (p.Ala48=)SNV Likely benign 702895 12:64173884-64173884 12:63780104-63780104
35 RXYLT1 NM_014254.3(RXYLT1):c.126C>G (p.Gly42=)SNV Likely benign 770023 12:64173866-64173866 12:63780086-63780086
36 RXYLT1 NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly)SNV Benign 260374 rs141536395 12:64202766-64202766 12:63808986-63808986
37 RXYLT1 NM_014254.3(RXYLT1):c.603C>T (p.Leu201=)SNV Benign 283541 rs146732392 12:64196045-64196045 12:63802265-63802265

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

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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32 ICD10
33 ICD10 via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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