Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

disease

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Also known as B3GALNT2 muscular dystrophy-dystroglycanopathy, type AMDDGA11muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2

Summary

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 (MONDO:0014071) is a disease caused by B3GALNT2 (GenCC Definitive), with 2 cohort genes.

At a glance

Causal gene: B3GALNT2 (GenCC Definitive)
Cohort genes: 2
ClinVar variants: 464

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Mondo ID	MONDO:0014071
OMIM	615181
DOID	DOID:0111230
UMLS	C3554638
MedGen	767552
GARD	0015915
Is cancer (heuristic)	no

Also known as: B3GALNT2 muscular dystrophy-dystroglycanopathy, type A · MDDGA11 · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 · muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2

Data availability: 464 ClinVar variants · 6 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › congenital muscular dystrophy › muscular dystrophy-dystroglycanopathy › muscular dystrophy-dystroglycanopathy, type A › muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

464 retrieved; paginated sample, class counts are floors:

211 uncertain significance, 169 likely benign, 40 pathogenic, 17 likely pathogenic, 9 conflicting classifications of pathogenicity, 9 benign, 6 pathogenic/likely pathogenic, 3 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1007494	NM_152490.5(B3GALNT2):c.1368+1G>C	B3GALNT2	Pathogenic	criteria provided, multiple submitters, no conflicts
1071482	NM_152490.5(B3GALNT2):c.133C>T (p.Gln45Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
1074962	NM_152490.5(B3GALNT2):c.59G>A (p.Trp20Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
1324016	NM_152490.5(B3GALNT2):c.652-1G>C	B3GALNT2	Pathogenic	criteria provided, single submitter
1324021	NM_152490.5(B3GALNT2):c.1177C>T (p.Arg393Ter)	B3GALNT2	Pathogenic	criteria provided, multiple submitters, no conflicts
1324031	NM_152490.5(B3GALNT2):c.903dup (p.Asn302fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
1324035	NM_152490.5(B3GALNT2):c.1020_1021dup (p.Arg341fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
132979	NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
132981	NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs)	B3GALNT2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1352899	NM_152490.5(B3GALNT2):c.427C>T (p.Arg143Ter)	B3GALNT2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1423697	NM_152490.5(B3GALNT2):c.27C>A (p.Cys9Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
1437368	NM_152490.5(B3GALNT2):c.753del (p.Val252fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
1451522	NM_152490.5(B3GALNT2):c.1066_1067del (p.Thr355_Asp356insTer)	B3GALNT2	Pathogenic	criteria provided, single submitter
1455909	NM_152490.5(B3GALNT2):c.1039dup (p.Thr347fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
1459605	NC_000001.10:g.(?235628933)(235629051_?)del	B3GALNT2	Pathogenic	criteria provided, single submitter
2034759	NM_152490.5(B3GALNT2):c.1209_1257dup (p.Lys420fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
2117097	NM_152490.5(B3GALNT2):c.1337G>A (p.Trp446Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
242531	NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)	B3GALNT2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2427392	NC_000001.10:g.(?235616382)(235643485_?)del	B3GALNT2	Pathogenic	criteria provided, single submitter
2760106	NM_152490.5(B3GALNT2):c.947dup (p.Tyr317fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
3247815	NC_000001.10:g.(?235605109)(235613675_?)del	B3GALNT2	Pathogenic	criteria provided, single submitter
3247816	NC_000001.10:g.(?235612376)(235616407_?)del	B3GALNT2	Pathogenic	criteria provided, single submitter
3375162	NM_152490.5(B3GALNT2):c.1315G>T (p.Glu439Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
3381836	NM_152490.5(B3GALNT2):c.261-2A>G	B3GALNT2	Pathogenic	criteria provided, single submitter
3612008	NM_152490.5(B3GALNT2):c.388_395del (p.Ser130fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
3622136	NM_152490.5(B3GALNT2):c.1143G>A (p.Trp381Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
3655627	NM_152490.5(B3GALNT2):c.253dup (p.Ser85fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
3664412	NM_152490.5(B3GALNT2):c.193G>T (p.Glu65Ter)	B3GALNT2	Pathogenic	criteria provided, single submitter
3680552	NM_152490.5(B3GALNT2):c.984_985del (p.Tyr329fs)	B3GALNT2	Pathogenic	criteria provided, single submitter
3899385	NM_152490.5(B3GALNT2):c.48dup (p.Leu17fs)	B3GALNT2	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
B3GALNT2	Definitive	Autosomal recessive	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
B3GALNT2	Orphanet:588	Muscle-eye-brain disease
B3GALNT2	Orphanet:88616	Autosomal recessive non-syndromic intellectual disability
B3GALNT2	Orphanet:899	Walker-Warburg syndrome
TBCE	Orphanet:2323	Sanjad-Sakati syndrome
TBCE	Orphanet:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
TBCE	Orphanet:93324	Autosomal recessive Kenny-Caffey syndrome

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
B3GALNT2	HGNC:28596	ENSG00000162885	Q8NCR0	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2	gencc,clinvar
TBCE	HGNC:11582	ENSG00000284770	Q15813	Tubulin-specific chaperone E	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
B3GALNT2	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2	Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans.
TBCE	Tubulin-specific chaperone E	Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	1	6.0×	0.320
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
B3GALNT2	Enzyme (other)	yes	2.4.1.313	Glyco_trans_31
TBCE	Other/Unknown	no		Ubiquitin-like_dom, CAP-Gly_domain, Ubiquitin-like_domsf

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	1
body of pancreas	1
skeletal muscle tissue	1
cortical plate	1
hindlimb stylopod muscle	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
B3GALNT2	141	ubiquitous	marker	body of pancreas, skeletal muscle tissue, adrenal tissue
TBCE	134	ubiquitous	yes	ventricular zone, hindlimb stylopod muscle, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TBCE	1,068
B3GALNT2	748

Structural data

PDB: 1 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TBCE	Q15813	6

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
B3GALNT2	Q8NCR0	86.81

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
DAG1 core M3 glycosylations	1	951.7×	0.006	B3GALNT2
Post-chaperonin tubulin folding pathway	1	237.9×	0.012	TBCE
Protein folding	1	129.8×	0.012	TBCE
Metabolism of proteins	2	12.4×	0.012	B3GALNT2, TBCE
O-linked glycosylation	1	72.3×	0.017	B3GALNT2
Post-translational protein modification	1	9.6×	0.101	B3GALNT2

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
muscle atrophy	1	4213.0×	0.003	TBCE
peripheral nervous system neuron axonogenesis	1	2106.5×	0.003	TBCE
post-chaperonin tubulin folding pathway	1	1404.3×	0.003	TBCE
tubulin complex assembly	1	842.6×	0.004	TBCE
developmental growth	1	366.4×	0.007	TBCE
glycoprotein biosynthetic process	1	168.5×	0.011	B3GALNT2
adult locomotory behavior	1	150.5×	0.011	TBCE
mitotic spindle organization	1	135.9×	0.011	TBCE
protein O-linked glycosylation	1	112.3×	0.012	B3GALNT2
post-embryonic development	1	102.8×	0.012	TBCE
microtubule cytoskeleton organization	1	60.6×	0.018	TBCE
protein folding	1	51.7×	0.019	TBCE

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
B3GALNT2	0	0
TBCE	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
B3GALNT2	2.4.1.313	protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	B3GALNT2
E	Difficult family or no structure, no drug	1	TBCE

Undrugged target profiles

2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
B3GALNT2	0	—
TBCE	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: B3GALNT2, TBCE