Page last updated: 2024-09-27

alpha-Dystroglycanopathies

Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.

Synonyms(27)

Synonym
Fukuyama Syndrome
Fukuyama Type Congenital Muscular Dystrophy
MEB (Muscle-Eye-Brain) Syndrome
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
Hydrocephalus, Agyria, And Retinal Dysplasia
HARD Syndrome
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Warburg Syndrome
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Muscular Dystrophy, Limb-Girdle, Type 2K
Muscular Dystrophy, Congenital, Fukuyama Type
COD-MD Syndrome
Pagon Syndrome
Muscle-Eye-Brain Disease
Chemke Syndrome
alpha-Dystroglycanopathies
Muscle-Eye-Brain Disease, POMT1-Related
LGMD2K
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cerebromuscular Dystrophy, Fukuyama Type
Walker-Warburg Syndrome
Muscle Eye Brain Disease
Fukuyama CMD
Fukuyama Congenital Muscular Dystrophy
MDDGA1
Fukuyama Muscular Dystrophy

Research Excerpts

Research

Studies (21)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's17 (80.95)28.8240
2020's4 (19.05)9.53
DrugIndicatedRelationship StrengthStudiesTrials
carnitine0low10
choline0low10
creatine0low10
lactic acid0low20
nocodazole0low10
propofol0low10
succinylcholine0low10
prednisolone0low10
cytidine monophosphate0low10
xylitol0low10
mannose0low50
acetylglucosamine0low10
remifentanil0low10
cephalosporin c0low10
ribitol-5-phosphate0low10
n-acetylneuraminic acid0low10
n-acetyllactosamine0low10
curcumin0low10
myelin basic protein0low10
brefeldin a0low10
piperidines0low10
nephrin0low10
eye0low40

Protein Targets (413)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit3003
RAR-related orphan receptor gamma5005
GLI family zinc finger 36006
AR protein5005
aldehyde dehydrogenase 1 family, member A13003
retinoic acid nuclear receptor alpha variant 17007
retinoid X nuclear receptor alpha4004
estrogen nuclear receptor alpha7007
peroxisome proliferator-activated receptor delta3003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a5005
activating transcription factor 63003
v-jun sarcoma virus 17 oncogene homolog (avian)6006
Histone H2A.x4004
thyroid hormone receptor beta isoform a3003
heat shock protein beta-13003
nuclear factor erythroid 2-related factor 2 isoform 14004
lamin isoform A-delta104004
Voltage-dependent calcium channel gamma-2 subunit4004
Glutamate receptor 24004
Putative glycosyltransferase WbgO0001
Cytochrome P450 3A40101
Cannabinoid receptor 10101
Killer cell lectin-like receptor subfamily B member 1A0101
Early activation antigen CD690101
PAX80001
thioredoxin reductase3003
ATAD5 protein, partial3003
USP1 protein, partial4004
TDP1 protein4004
thioredoxin glutathione reductase2002
Smad33003
67.9K protein2002
IDH13003
euchromatic histone-lysine N-methyltransferase 26006
NPC intracellular cholesterol transporter 1 precursor2002
major prion protein preproprotein Prp precursor0101
nuclear receptor subfamily 0 group B member 10202
chromobox protein homolog 13003
nuclear factor erythroid 2-related factor 2 isoform 23003
ras-related protein Rab-9A1001
steroidogenic factor 10202
urokinase-type plasminogen activator precursor2002
plasminogen precursor2002
urokinase plasminogen activator surface receptor precursor2002
geminin3003
Solute carrier family 22 member 50001
Solute carrier family 22 member 50001
Bile salt export pump0202
Solute carrier family 22 member 160001
Solute carrier family 22 member 210001
Solute carrier family 22 member 50001
Chain A, Acetylcholinesterase0022
Chain A, Acetylcholinesterase0022
Chain A, Acetylcholinesterase0022
Chain A, Acetylcholinesterase0022
Chain A, Acetylcholinesterase0022
Chain A, Acetylcholinesterase0022
Chain A, Acetylcholinesterase0022
Chain A, Putative Glycine Betaine-binding Abc Transporter Protein0011
Chain A, PUTATIVE GLYCINE BETAINE-BINDING ABC TRANSPORTER PROTEIN0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Choline-binding protein0011
muscarinic acetylcholine receptor M12002
Solute carrier family 22 member 10102
Solute carrier family 22 member 20001
Solute carrier family 22 member 1 0001
Solute carrier family 22 member 20101
Neuronal acetylcholine receptor subunit alpha-30101
Neuronal acetylcholine receptor subunit alpha-40101
Neuronal acetylcholine receptor subunit alpha-20101
Neuronal acetylcholine receptor subunit beta-20101
Neuronal acetylcholine receptor subunit beta-30101
Neuronal acetylcholine receptor subunit beta-40101
Neuronal acetylcholine receptor subunit alpha-50101
Acetylcholinesterase0202
Sodium- and chloride-dependent creatine transporter 10101
Choline O-acetyltransferase 0001
Neuronal acetylcholine receptor subunit alpha-60101
Neuronal acetylcholine receptor subunit alpha-90101
Neuronal acetylcholine receptor subunit alpha-70101
Solute carrier family 22 member 10102
High affinity choline transporter 10101
Neuronal acetylcholine receptor subunit alpha-100101
Solute carrier family 22 member 20102
ATP-dependent phosphofructokinase2002
Sodium- and chloride-dependent creatine transporter 10101
Proton-coupled amino acid transporter 10101
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain A, Breast cancer type 1 susceptibility protein1001
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, 2-oxoglutarate Oxygenase1001
Chain A, Ferritin light chain2002
Chain A, Cruzipain1001
Luciferase2002
interleukin 81001
acetylcholinesterase2002
Nrf21001
15-lipoxygenase, partial1001
pregnane X receptor1001
phosphopantetheinyl transferase2002
SMAD family member 21001
GLS protein2002
SMAD family member 31001
Microtubule-associated protein tau2002
alkaline phosphatase, intestinal0101
apical membrane antigen 1, AMA11001
caspase 7, apoptosis-related cysteine protease3003
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)3003
PINK11001
thyroid stimulating hormone receptor3003
estrogen receptor 2 (ER beta)2002
nuclear receptor subfamily 1, group I, member 32002
progesterone receptor4004
EWS/FLI fusion protein1002
glucocorticoid receptor [Homo sapiens]3003
estrogen-related nuclear receptor alpha6006
farnesoid X nuclear receptor3003
pregnane X nuclear receptor4004
glucocerebrosidase1001
Parkin1001
bromodomain adjacent to zinc finger domain 2B1001
toll-like receptor 90101
peroxisome proliferator activated receptor gamma1001
vitamin D (1,25- dihydroxyvitamin D3) receptor2002
caspase-33003
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
TPA: protein transporter TIM100101
aryl hydrocarbon receptor3003
thyroid stimulating hormone receptor2002
thyrotropin-releasing hormone receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a2002
lysosomal alpha-glucosidase preproprotein1001
alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein0101
hemoglobin subunit beta1001
cellular tumor antigen p53 isoform a3003
polyunsaturated fatty acid lipoxygenase ALOX121001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 12002
perilipin-50101
vitamin D3 receptor isoform VDRA1001
intestinal alkaline phosphatase precursor0101
perilipin-10101
potassium voltage-gated channel subfamily H member 2 isoform d1001
transcriptional regulator ERG isoform 32002
thyroid hormone receptor beta isoform 23003
huntingtin isoform 22002
importin subunit beta-1 isoform 11001
pyruvate kinase PKM isoform a1001
DNA polymerase beta1001
mitogen-activated protein kinase 12002
nuclear factor NF-kappa-B p105 subunit isoform 11001
flap endonuclease 11001
snurportin-11001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 11001
DNA polymerase iota isoform a (long)2002
nuclear receptor ROR-gamma isoform 12002
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 isoform a0101
DNA polymerase kappa isoform 13003
peripheral myelin protein 222002
cytochrome P450 3A4 isoform 12002
muscleblind-like protein 1 isoform 11001
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
alkaline phosphatase, germ cell type preproprotein0101
caspase-1 isoform alpha precursor1001
hypothetical protein SA14220101
lethal factor (plasmid)2002
DNA dC->dU-editing enzyme APOBEC-3F isoform a1001
neuropeptide S receptor isoform A2002
Gamma-aminobutyric acid receptor subunit pi2114
Prostaglandin E synthase0101
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Histone deacetylase 30101
Acetylcholinesterase0101
Lysine-specific histone demethylase 1A0101
D-amino-acid oxidase0101
Phospholipase A20101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 10202
Cellular tumor antigen p534004
Amyloid-beta precursor protein0102
Integrin beta-32002
Neuronal proto-oncogene tyrosine-protein kinase Src 0101
Prostaglandin G/H synthase 10101
Cholinesterase0101
Heme oxygenase 1 0101
Integrin alpha-IIb2002
Glutathione S-transferase P0101
Polyunsaturated fatty acid 5-lipoxygenase0101
60 kDa chaperonin0101
Replicase polyprotein 1ab0112
Replicase polyprotein 1ab0112
Microtubule-associated protein tau0102
60 kDa heat shock protein, mitochondrial0101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 0101
Tissue factor0101
Tyrosinase0101
Aminopeptidase N0101
Aminopeptidase N0101
Gamma-aminobutyric acid receptor subunit beta-12114
Alpha-1B adrenergic receptor0101
Sarcoplasmic/endoplasmic reticulum calcium ATPase 20202
Glycogen synthase kinase-3 beta0101
Gamma-aminobutyric acid receptor subunit delta2114
Gamma-aminobutyric acid receptor subunit gamma-22114
Gamma-aminobutyric acid receptor subunit alpha-52114
Gamma-aminobutyric acid receptor subunit alpha-32114
Amine oxidase [flavin-containing] A0303
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Gamma-aminobutyric acid receptor subunit gamma-12114
Gamma-aminobutyric acid receptor subunit alpha-22114
Heme oxygenase 20101
Alpha-1D adrenergic receptor0101
Amine oxidase [flavin-containing] B0202
Voltage-dependent L-type calcium channel subunit alpha-1D0101
Proteasome subunit beta type-50101
Gamma-aminobutyric acid receptor subunit alpha-42114
Gamma-aminobutyric acid receptor subunit gamma-32114
Gamma-aminobutyric acid receptor subunit alpha-62114
Prostaglandin G/H synthase 20202
17-beta-hydroxysteroid dehydrogenase type 20101
Alpha-synuclein1113
Alpha-1A adrenergic receptor0101
Histamine H2 receptor2002
Glycogen synthase kinase-3 beta0101
Nuclear receptor ROR-gamma1001
Caspase-71001
Histone deacetylase 40101
Beta-secretase 10101
10 kDa heat shock protein, mitochondrial0101
Gamma-aminobutyric acid receptor subunit alpha-12114
Gamma-aminobutyric acid receptor subunit beta-32114
Guanine nucleotide-binding protein G1001
Gamma-aminobutyric acid receptor subunit beta-22114
Cholinesterase0101
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Lactoylglutathione lyase0101
Histone acetyltransferase p3000101
TAR DNA-binding protein 431001
Serine/threonine-protein kinase PAK 10101
Histone deacetylase 10202
5-hydroxytryptamine receptor 40011
Sodium/bile acid cotransporter0011
Nuclear factor erythroid 2-related factor 20011
Thiosulfate sulfurtransferase0101
Thioredoxin reductase 1, cytoplasmic0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Thioredoxin reductase 30101
Sortase A0101
Histone deacetylase 70101
GABA theta subunit2114
Histone deacetylase 20202
CREB-binding protein1102
Sarcoplasmic/endoplasmic reticulum calcium ATPase 30202
Cysteine protease 0101
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
NACHT, LRR and PYD domains-containing protein 3 0101
ATPase family AAA domain-containing protein 53003
Ataxin-23003
Histone deacetylase 80202
Gamma-aminobutyric acid receptor subunit epsilon2114
Thioredoxin reductase 2, mitochondrial0101
CDGSH iron-sulfur domain-containing protein 10202
Histone deacetylase 60101
Histone deacetylase 90101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Histone deacetylase 50101
Lymphocyte antigen 960011
Beta lactamase (plasmid)0101
Orotidine 5'-phosphate decarboxylase0101
Seminal ribonuclease0101
Uridine 5'-monophosphate synthase0101
Beta-galactoside alpha-2,6-sialyltransferase 10101
UMP-CMP kinase 0001
Ribonuclease pancreatic0101
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase0101
Orotidine 5'-phosphate decarboxylase 0101
cytochrome P450 family 3 subfamily A polypeptide 43003
cytochrome P450 2D61001
Alpha-mannosidase 2C10101
Fucose-binding lectin PA-IIL0101
CD209 antigen0101
Chain A, SusD homolog0011
Galectin-90011
Galectin-80011
Galectin-10011
Galectin-30011
Galectin-70011
Sialidase-40101
Sialidase-10101
Sialidase-30101
Sialidase-20101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, Glutathione-requiring prostaglandin D synthase0101
Fumarate hydratase1001
NFKB1 protein, partial1001
PPM1D protein1001
Thrombopoietin1001
G2002
polyprotein1001
arylsulfatase A1001
Bloom syndrome protein isoform 12002
peripheral myelin protein 22 isoform 11001
cytochrome P450 2C9 precursor1001
histone deacetylase 9 isoform 31001
atrial natriuretic peptide receptor 2 precursor1001
serine/threonine-protein kinase mTOR isoform 11001
Tyrosine-protein kinase ABL10101
Interferon beta3003
HLA class I histocompatibility antigen, B alpha chain 2002
Tubulin alpha-1A chain0101
Tubulin beta chain0101
Tubulin beta-4A chain0112
Tubulin beta chain0112
Tubulin alpha-3C chain0112
Adenosine receptor A2a0202
Adenosine receptor A10202
5-hydroxytryptamine receptor 2B0404
Tubulin alpha-1B chain0112
Tubulin alpha-4A chain0112
Tubulin beta-4B chain0112
Inositol monophosphatase 11001
Sodium-dependent dopamine transporter 0202
Tubulin beta-3 chain0112
Tubulin beta-2A chain0112
Tubulin beta-8 chain0112
Tubulin beta-2B chain0102
Tubulin alpha-3E chain0112
Tubulin alpha-1A chain0112
Similar to alpha-tubulin isoform 1 0102
Similar to alpha-tubulin isoform 1 0102
Inositol hexakisphosphate kinase 12002
Tubulin alpha-1C chain0112
Tubulin beta-6 chain0112
Tubulin beta-2B chain0112
Tubulin beta-1 chain0112
cytochrome P450 2C9, partial2002
luciferase0001
nuclear receptor subfamily 1, group I, member 21001
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor0218
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Cytochrome P450 2C9 0101
Glutamine synthetase0011
Androgen receptor0101
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Histamine H1 receptor0011
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
Canalicular multispecific organic anion transporter 10101
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
Chain A, Ferritin light chain0011
D(1A) dopamine receptor2002
Fatty-acid amide hydrolase 10101
UDP-glucuronosyltransferase 1A90001
5-hydroxytryptamine receptor 40202
Carbonic anhydrase 10101
Carbonic anhydrase 20101
Aldo-keto reductase family 1 member B10202
Gamma-aminobutyric acid receptor subunit alpha-10001
Gamma-aminobutyric acid receptor subunit beta-10001
Gamma-aminobutyric acid receptor subunit alpha-20001
Gamma-aminobutyric acid receptor subunit alpha-30001
Polyunsaturated fatty acid lipoxygenase ALOX150101
Gamma-aminobutyric acid receptor subunit alpha-10112
Gamma-aminobutyric acid receptor subunit beta-10011
Gamma-aminobutyric acid receptor subunit gamma-20112
Gamma-aminobutyric acid receptor subunit alpha-40001
Gamma-aminobutyric acid receptor subunit gamma-20001
Prostaglandin G/H synthase 10101
Sodium-dependent noradrenaline transporter 0202
Sodium- and chloride-dependent GABA transporter 10101
5-hydroxytryptamine receptor 2C0202
Gamma-aminobutyric acid receptor subunit beta-30112
Gamma-aminobutyric acid receptor subunit alpha-50011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Gamma-aminobutyric acid receptor subunit alpha-30011
Gamma-aminobutyric acid receptor subunit alpha-20011
Gamma-aminobutyric acid receptor subunit beta-20011
Sodium- and chloride-dependent betaine transporter0101
Gamma-aminobutyric acid receptor subunit alpha-40011
Fatty-acid amide hydrolase 10101
Gamma-aminobutyric acid receptor subunit alpha-60011
UDP-glucuronosyltransferase 1A80001
Mu-type opioid receptor0101
Sigma non-opioid intracellular receptor 10101
Acetylcholinesterase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]