Amylopectinosis

An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.

Synonym
Glycogen Storage Disease Type 4
Glycogen Branching Enzyme Deficiency
Andersen's Disease
Andersen Disease
Glycogen Storage Disease Type IV
Glycogenosis IV
Type IV Glycogenosis
Deficiency, Brancher
Brancher Deficiency
Gbe1 Deficiency
Amylopectinosis
Glycogenosis 4

Excerpt	Reference
"This pathology, amylopectinosis, is caused by mutations in a series of single genes whose functions are under active study toward understanding the mechanisms of proper glycogen construction."	( Ahonen, S; Chown, EE; DiGiovanni, LF; Grossman, TR; Israelian, L; Iwai, K; Kordasiewicz, H; Lee, JPY; Marchioni, CR; Minassian, BA; Mitra, S; Nitschke, F; Nitschke, S; Perri, AM; Petković, S; Smith, BH; Sullivan, MA; Vilaplana, F; Wang, P; Wu, J; Zhao, X, 2022)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	15 (27.27)	23.3326
1990's	16 (29.09)	12.5806
2000's	13 (23.64)	18.1394
2010's	6 (10.91)	28.8240
2020's	5 (9.09)	9.53

Drug	Relationship Strength	Studies
carnitine	low	3
lactic acid	low	2
iodine	low	1
uric acid	low	1
verapamil	low	1
flecainide	low	1
aminosalicylic acid	low	1
glutamine	low	1
cyanides	low	1
galactose	low	1
tyrosine	low	4
arginine	low	1
uridine diphosphate glucose	low	1
cyanamide	low	2
congo red	low	1
nicorandil	low	1
fibrinogen	low	1
glycerophosphoinositol 4,5-bisphosphate	low	1
glycogen	low	21
amylopectin	low	11
maltotetraose	low	1
acebutolol	low	1
cyclin d1	low	1
technetium tc 99m sulfur colloid	low	1

Protein Targets (223)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
Microtubule-associated protein tau	1	0	0	1
thioredoxin glutathione reductase	1	0	0	1
Smad3	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	5	0	0	5
microphthalmia-associated transcription factor isoform 9	0	1	0	1
Carbonic anhydrase 1	0	3	0	5
Carbonic anhydrase 2	0	3	0	5
Tyrosine-protein phosphatase non-receptor type 1	0	0	1	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	2	0	0	2
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
thioredoxin reductase	3	0	0	3
phosphopantetheinyl transferase	1	0	0	1
NFKB1 protein, partial	1	0	0	1
GLS protein	2	0	0	2
thyroid stimulating hormone receptor	1	0	0	1
alpha-galactosidase	1	0	0	1
cytochrome P450 2C19 precursor	2	0	0	2
chromobox protein homolog 1	3	0	0	3
flap endonuclease 1	2	0	0	2
DNA polymerase iota isoform a (long)	1	0	0	1
muscarinic acetylcholine receptor M1	1	0	0	1
lethal factor (plasmid)	2	0	0	2
Cytochrome P450 3A4	0	1	0	2
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	1	0	1
ATP-dependent phosphofructokinase	2	0	0	2
Solute carrier family 22 member 5	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Bile salt export pump	0	4	0	4
Solute carrier family 22 member 16	0	0	0	1
Solute carrier family 22 member 21	0	0	0	1
Solute carrier family 22 member 5	0	0	0	1
Luciferase	2	0	0	2
acetylcholinesterase	3	0	0	3
hypoxia-inducible factor 1 alpha subunit	2	0	0	2
RAR-related orphan receptor gamma	4	0	0	4
TDP1 protein	3	0	0	3
GLI family zinc finger 3	3	0	0	3
AR protein	4	0	0	4
estrogen receptor 2 (ER beta)	2	0	0	2
nuclear receptor subfamily 1, group I, member 3	2	0	0	2
cytochrome P450 family 3 subfamily A polypeptide 4	4	0	0	4
glucocorticoid receptor [Homo sapiens]	2	0	0	2
estrogen-related nuclear receptor alpha	3	0	0	3
estrogen nuclear receptor alpha	6	0	0	6
peroxisome proliferator activated receptor gamma	3	0	0	3
vitamin D (1,25- dihydroxyvitamin D3) receptor	1	0	0	1
aryl hydrocarbon receptor	2	0	0	2
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	2	0	0	2
thyroid stimulating hormone receptor	3	0	0	3
activating transcription factor 6	3	0	0	3
v-jun sarcoma virus 17 oncogene homolog (avian)	4	0	0	4
Histone H2A.x	1	0	0	1
thyroid hormone receptor beta isoform 2	3	0	0	3
B2 bradykinin receptor	0	1	0	1
Voltage-dependent calcium channel gamma-2 subunit	2	0	0	2
Dihydrofolate reductase	0	0	0	1
Dihydrofolate reductase	0	1	0	1
Chymotrypsinogen A	0	0	0	1
Beta-lactamase	0	1	0	1
Cellular tumor antigen p53	1	0	0	1
Amyloid-beta precursor protein	0	2	0	2
Beta-lactamase	0	0	0	1
5-hydroxytryptamine receptor 2A	0	0	0	1
Beta-galactosidase	0	2	0	3
5-hydroxytryptamine receptor 1A	0	3	0	3
Glutamate receptor 2	2	0	0	2
Choline O-acetyltransferase	0	1	0	1
Ectonucleotide pyrophosphatase/phosphodiesterase family member 2	0	2	0	2
PH domain leucine-rich repeat-containing protein phosphatase 2	0	1	0	1
Chymotrypsin-C	0	1	0	1
retinoic acid nuclear receptor alpha variant 1	3	0	0	3
thyroid hormone receptor beta isoform a	1	0	0	1
lamin isoform A-delta10	3	0	0	3
Carbonic anhydrase 4	0	1	0	2
Carbonic anhydrase	0	1	0	2
Carbonic anhydrase 15	0	1	0	2
EWS/FLI fusion protein	3	0	0	3
cytochrome P450 2D6	2	0	0	2
potassium voltage-gated channel subfamily H member 2 isoform d	2	0	0	2
Voltage-dependent L-type calcium channel subunit alpha-1F	0	2	0	2
Cytochrome P450 2C9	0	2	0	2
Potassium voltage-gated channel subfamily A member 5	0	1	0	1
Cytochrome P450 2J2	0	2	0	2
Voltage-dependent L-type calcium channel subunit alpha-1D	0	2	0	2
Potassium voltage-gated channel subfamily A member 1	0	1	0	1
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Voltage-dependent L-type calcium channel subunit alpha-1S	0	2	0	2
Voltage-dependent L-type calcium channel subunit alpha-1C	0	2	0	2
Sodium channel protein type 5 subunit alpha	0	2	0	2
Potassium voltage-gated channel subfamily D member 2	0	1	0	1
USP1 protein, partial	1	0	0	1
IDH1	1	0	0	1
importin subunit beta-1 isoform 1	1	0	0	1
snurportin-1	1	0	0	1
DNA polymerase kappa isoform 1	1	0	0	1
histone acetyltransferase KAT2A isoform 1	1	0	0	1
Lipopolysaccharide heptosyltransferase 1	0	1	0	1
PA-I galactophilic lectin	0	0	1	1
Jacalin	0	0	1	1
Chain A, Glutamine Binding Protein	0	0	1	1
15-lipoxygenase, partial	2	0	0	2
arylsulfatase A	1	0	0	1
Bloom syndrome protein isoform 1	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
Neutral amino acid transporter A	0	1	0	1
Asc-type amino acid transporter 1	0	1	0	1
Neutral amino acid transporter B(0)	0	1	0	1
Carbonic anhydrase-like protein, putative	0	0	0	2
Amino acid transporter	0	1	0	1
progesterone receptor	2	0	0	2
retinoid X nuclear receptor alpha	1	0	0	1
pregnane X nuclear receptor	2	0	0	2
histone deacetylase 9 isoform 3	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
Integrin beta-3	1	0	0	1
Integrin alpha-IIb	1	0	0	1
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
SMAD family member 2	1	0	0	1
SMAD family member 3	1	0	0	1
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	1	0	0	1
beta-2 adrenergic receptor	1	0	0	1
cytochrome P450 2C9 precursor	1	0	0	1
geminin	1	0	0	1
peripheral myelin protein 22	1	0	0	1
ATP-binding cassette sub-family C member 3	0	2	0	2
Multidrug resistance-associated protein 4	0	2	0	2
Histamine H2 receptor	1	0	0	1
Spike glycoprotein	2	0	0	2
Canalicular multispecific organic anion transporter 1	0	2	0	2
Chain A, CHORISMATE MUTASE	0	1	0	1
Chain A, TYROSYL-tRNA SYNTHETASE	0	0	1	1
Polyphenol oxidase 2	0	0	0	1
Carbonic anhydrase 12	0	0	0	1
Plasma kallikrein	0	0	0	1
Carbonic anhydrase 3	0	0	0	1
Carbonic anhydrase 6	0	0	0	1
Adenosine receptor A1	0	0	0	1
Adenosine receptor A2a	0	0	0	1
Carbonic anhydrase 5A, mitochondrial	0	0	0	1
Glutamate receptor ionotropic, NMDA 1	0	0	0	1
Carbonic anhydrase 7	0	0	0	1
Carbonic anhydrase	0	0	0	1
Glutamate receptor ionotropic, NMDA 2A	0	0	0	1
Glutamate receptor ionotropic, NMDA 2B	0	0	0	1
Glutamate receptor ionotropic, NMDA 2C	0	0	0	1
Large neutral amino acids transporter small subunit 1	0	1	0	1
SLC16A10 protein	0	0	0	1
Carbonic anhydrase 9	0	0	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase	0	0	0	1
Glutamate receptor ionotropic, NMDA 2D	0	0	0	1
Carbonic anhydrase	0	0	0	1
Tubulin--tyrosine ligase	0	1	0	1
Glutamate receptor ionotropic, NMDA 3B	0	0	0	1
Monocarboxylate transporter 10	0	0	0	1
Taste receptor type 2 member 14	0	0	0	1
Glutamate receptor ionotropic, NMDA 3A	0	0	0	1
Carbonic anhydrase 14	0	0	0	1
Carbonic anhydrase 5B, mitochondrial	0	0	0	1
Chain A, Glycogen phosphorylase, liver form	0	0	1	1
Chain A, glycogen phosphorylase, liver form	0	0	1	1
Chain A, Glycogen phosphorylase, liver form	0	0	1	1
Chain A, Glycogen phosphorylase, liver form	0	0	1	1
Solute carrier family 22 member 6	0	0	0	1
Solute carrier family 22 member 8	0	1	0	1
Solute carrier family 2, facilitated glucose transporter member 9	0	1	1	2
Guanine deaminase	0	1	0	1
P2Y purinoceptor 2	0	0	1	1
P2Y purinoceptor 6	0	0	1	1
P2Y purinoceptor 14	0	0	1	1
glp-1 receptor, partial	1	0	0	1
regulator of G-protein signaling 4	1	0	0	1
G	1	0	0	1
glucocerebrosidase	1	0	0	1
lysosomal alpha-glucosidase preproprotein	1	0	0	1
huntingtin isoform 2	1	0	0	1
Solute carrier family 22 member 1	0	2	0	2
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Bile salt export pump	0	1	0	1
5-hydroxytryptamine receptor 4	0	2	0	2
Interferon beta	1	0	0	1
HLA class I histocompatibility antigen, B alpha chain	1	0	0	1
Albumin	0	0	1	1
Glycoprotein	0	1	0	1
Muscarinic acetylcholine receptor M2	0	0	1	1
ATP-dependent translocase ABCB1	0	1	0	1
ATP-dependent translocase ABCB1	0	2	1	10
Alpha-2A adrenergic receptor	0	2	0	2
Cytochrome P450 2C8	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	2
Catechol O-methyltransferase	0	1	0	1
Potassium voltage-gated channel subfamily A member 3	0	1	0	1
Histamine H2 receptor	0	2	0	2
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	2	0	2
5-hydroxytryptamine receptor 1B	0	2	0	2
Sodium-dependent serotonin transporter	0	2	0	2
Delta-type opioid receptor	0	1	0	1
Multidrug resistance-associated protein 1	0	2	1	4
Mu-type opioid receptor	0	1	0	1
D(3) dopamine receptor	0	2	0	2
Kappa-type opioid receptor	0	1	0	1
5-hydroxytryptamine receptor 2B	0	2	0	2
5-hydroxytryptamine receptor 7	0	1	0	1
D(2) dopamine receptor	0	1	0	1
Inositol hexakisphosphate kinase 1	1	0	0	1
Ataxin-2	1	0	0	1
Chloroquine resistance transporter	0	1	0	1
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	1	1	2
Solute carrier organic anion transporter family member 1B1	0	2	0	2
cytochrome P450 2C9, partial	1	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(12)

Research Excerpts

Overview

Research

Studies (55)

Protein Targets (223)

Amylopectinosis

Synonyms(12)

Research Excerpts

Overview

Research

Studies (55)

Drugs Studied (27)

Protein Targets (223)