Alstrom Syndrome

Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.

Synonym
Alstrom Syndrome
Alstrom-Hallgren Syndrome
Alstrom's Syndrome
Alstru00F6m Syndrome

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	0 (0.00)	12.5806
2000's	4 (26.67)	18.1394
2010's	4 (26.67)	28.8240
2020's	7 (46.67)	9.53

Drug	Relationship Strength	Studies	Trials
formaldehyde	low	1	0
palmitic acid	low	1	0
amiodarone	low	1	0
amlexanox	low	1	0
lidocaine	low	1	0
thiophenes	low	1	0
alpha-aminopyridine	low	1	0
transferrin	low	1	0
fura-2	low	1	0
dorzolamide	low	1	0
remimazolam	low	1	0
oxadiazoles	low	1	0
ptc 124	low	1	0
rm-493	medium	1	1
cytochrome c-t	low	1	0
glucagon-like peptide 1	low	1	0
calpain	low	1	0
exenatide	low	1	0
cyclin d1	low	1	0
calpastatin	low	1	0
leptin	low	1	0

Protein Targets (302)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
AR protein	7	0	0	7
retinoic acid nuclear receptor alpha variant 1	6	0	0	6
estrogen nuclear receptor alpha	6	0	0	6
thyroid stimulating hormone receptor	2	0	0	2
thyroid hormone receptor beta isoform 2	5	0	0	5
Voltage-dependent calcium channel gamma-2 subunit	2	0	0	2
Heat shock protein HSP 90-alpha	0	0	1	1
Botulinum neurotoxin type A	0	1	0	1
Neutrophil cytosol factor 1	0	1	0	1
Glutamate receptor 2	2	0	0	2
Nitric oxide synthase, endothelial	0	1	0	1
Nitric oxide synthase, brain	0	1	0	1
Nitric oxide synthase, brain	0	1	0	1
Nitric oxide synthase, inducible	0	1	0	1
Kappa-type opioid receptor	0	0	1	1
Phosphatidylinositol 4-kinase alpha	0	1	0	1
Mu-type opioid receptor	0	1	1	2
Tyrosine-protein kinase	0	0	1	1
Phosphatidylinositol 4-kinase type 2-beta	0	1	0	1
Phosphatidylinositol 4-kinase type 2-alpha	0	1	0	1
Phosphatidylinositol 4-kinase beta	0	1	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	1	0	0	1
acetylcholinesterase	2	0	0	2
phosphopantetheinyl transferase	1	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
RAR-related orphan receptor gamma	5	0	0	5
SMAD family member 2	3	0	0	3
ATAD5 protein, partial	1	0	0	1
Fumarate hydratase	1	0	0	1
USP1 protein, partial	3	0	0	3
NFKB1 protein, partial	1	0	0	1
PPM1D protein	2	0	0	2
SMAD family member 3	3	0	0	3
TDP1 protein	2	0	0	2
Thrombopoietin	1	0	0	1
caspase 7, apoptosis-related cysteine protease	2	0	0	2
aldehyde dehydrogenase 1 family, member A1	2	0	0	2
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
estrogen receptor 2 (ER beta)	3	0	0	3
nuclear receptor subfamily 1, group I, member 3	3	0	0	3
progesterone receptor	1	0	0	1
EWS/FLI fusion protein	3	0	0	3
glucocorticoid receptor [Homo sapiens]	3	0	0	3
retinoid X nuclear receptor alpha	3	0	0	3
estrogen-related nuclear receptor alpha	4	0	0	4
farnesoid X nuclear receptor	2	0	0	2
pregnane X nuclear receptor	3	0	0	3
G	3	0	0	3
cytochrome P450 2D6	3	0	0	3
polyprotein	1	0	0	1
peroxisome proliferator-activated receptor delta	4	0	0	4
peroxisome proliferator activated receptor gamma	2	0	0	2
caspase-3	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
v-jun sarcoma virus 17 oncogene homolog (avian)	1	0	0	1
Histone H2A.x	1	0	0	1
cytochrome P450 2D6 isoform 1	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
cytochrome P450 2C9 precursor	1	0	0	1
D(1A) dopamine receptor	1	0	0	1
chromobox protein homolog 1	2	0	0	2
thyroid hormone receptor beta isoform a	1	0	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	1	0	0	1
heat shock protein beta-1	1	0	0	1
huntingtin isoform 2	1	0	0	1
mitogen-activated protein kinase 1	2	0	0	2
flap endonuclease 1	2	0	0	2
serine/threonine-protein kinase mTOR isoform 1	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	4	0	0	4
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
urokinase-type plasminogen activator precursor	1	0	0	1
plasminogen precursor	1	0	0	1
urokinase plasminogen activator surface receptor precursor	1	0	0	1
nuclear receptor ROR-gamma isoform 1	3	0	0	3
geminin	3	0	0	3
peripheral myelin protein 22	3	0	0	3
survival motor neuron protein isoform d	1	0	0	1
cytochrome P450 3A4 isoform 1	2	0	0	2
muscarinic acetylcholine receptor M1	2	0	0	2
lethal factor (plasmid)	1	0	0	1
lamin isoform A-delta10	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	2	0	0	2
Polyunsaturated fatty acid lipoxygenase ALOX15B	1	0	0	1
ATP-binding cassette sub-family C member 3	0	3	0	3
Multidrug resistance-associated protein 4	0	3	0	3
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Solute carrier organic anion transporter family member 1A4	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1F	0	1	0	1
5-hydroxytryptamine receptor 4	0	2	0	2
Lysine-specific demethylase PHF2	0	1	0	1
Bile salt export pump	0	3	0	3
Interferon beta	3	0	0	3
HLA class I histocompatibility antigen, B alpha chain	3	0	0	3
Thyroid hormone receptor alpha	0	1	0	1
Receptor tyrosine-protein kinase erbB-2	0	1	0	1
Cellular tumor antigen p53	4	0	0	4
Integrin beta-3	1	0	0	1
Tyrosine-protein kinase Fyn	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
Aldo-keto reductase family 1 member B1	0	2	0	2
Muscarinic acetylcholine receptor M2	0	2	0	2
Muscarinic acetylcholine receptor M4	0	2	0	2
ATP-dependent translocase ABCB1	0	2	1	3
Integrin alpha-IIb	1	0	0	1
Beta-1 adrenergic receptor	0	2	0	2
Muscarinic acetylcholine receptor M5	0	2	0	2
Alpha-2A adrenergic receptor	0	2	0	2
Adenosine receptor A3	0	2	0	2
Cytochrome P450 2C8	0	1	0	1
Thyroid hormone receptor alpha	0	1	0	1
Thyroid hormone receptor beta	0	1	0	1
Muscarinic acetylcholine receptor M1	0	2	0	2
Beta-3 adrenergic receptor	0	2	0	2
D(2) dopamine receptor	0	2	0	2
Androgen receptor	0	3	0	3
Gamma-aminobutyric acid receptor subunit beta-1	2	0	0	2
Alpha-1B adrenergic receptor	0	2	0	2
Lethal factor	0	1	0	1
Alpha-2B adrenergic receptor	0	2	0	2
Thyroid hormone receptor beta	0	1	0	1
Gamma-aminobutyric acid receptor subunit delta	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-5	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-3	2	0	0	2
Muscarinic acetylcholine receptor M3	0	2	0	2
ATP-dependent translocase ABCB1	0	1	0	1
Substance-K receptor	0	2	0	2
D(1A) dopamine receptor	0	2	0	2
D(4) dopamine receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit gamma-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-2	2	0	0	2
Carnitine O-palmitoyltransferase 2, mitochondrial	0	1	0	1
Sodium-dependent noradrenaline transporter	0	2	0	2
Histamine H2 receptor	0	2	0	2
Endothelin-1 receptor	0	2	0	2
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-3	2	0	0	2
Lysine-specific demethylase 5A	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	2	0	0	2
B2 bradykinin receptor	0	2	0	2
Sodium-dependent serotonin transporter	0	2	0	2
Melanocortin receptor 4	0	3	1	4
C-8 sterol isomerase	0	1	0	1
Melanocortin receptor 5	0	3	0	3
Mu-type opioid receptor	0	2	0	2
D(3) dopamine receptor	0	2	0	2
Sodium channel protein type 1 subunit alpha	0	1	0	1
Sodium channel protein type 4 subunit alpha	0	2	0	2
Squalene synthase	0	1	0	1
Delta-type opioid receptor	0	2	0	2
Kappa-type opioid receptor	0	2	0	2
5-hydroxytryptamine receptor 2B	0	2	0	2
C-C chemokine receptor type 2	0	2	0	2
Melanocortin receptor 3	0	3	1	4
Alpha-1A adrenergic receptor	0	2	0	2
Histamine H2 receptor	1	0	0	1
D(1A) dopamine receptor	1	0	0	1
5-hydroxytryptamine receptor 6	0	2	0	2
Carnitine O-palmitoyltransferase 1, liver isoform	0	1	0	1
C-C chemokine receptor type 4	0	2	0	2
Spike glycoprotein	1	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-2	2	0	0	2
Sodium channel protein type 7 subunit alpha	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1D	0	1	0	1
Sodium-dependent dopamine transporter	0	2	0	2
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Voltage-dependent L-type calcium channel subunit alpha-1S	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Sodium channel protein type 5 subunit alpha	0	2	0	2
Squalene monooxygenase	0	1	0	1
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	0	1	0	1
Sodium channel protein type 9 subunit alpha	0	2	0	2
Lysine-specific demethylase 7A	0	1	0	1
GABA theta subunit	2	0	0	2
Carnitine O-palmitoyltransferase 1, muscle isoform	0	1	0	1
Inositol hexakisphosphate kinase 1	3	0	0	3
Canalicular multispecific organic anion transporter 1	0	3	0	3
Sodium channel protein type 2 subunit alpha	0	1	0	1
Ataxin-2	3	0	0	3
Sigma non-opioid intracellular receptor 1	0	2	0	2
Gamma-aminobutyric acid receptor subunit epsilon	2	0	0	2
NAD-dependent protein deacetylase sirtuin-3, mitochondrial	0	0	1	1
Sodium channel protein type 3 subunit alpha	0	2	0	2
Sodium channel protein type 11 subunit alpha	0	1	0	1
Histone lysine demethylase PHF8	0	1	0	1
Sodium channel protein type 8 subunit alpha	0	1	0	1
Sodium channel protein type 10 subunit alpha	0	1	0	1
cytochrome P450 2C9, partial	3	0	0	3
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
Luciferase	2	0	0	2
hypothetical protein, conserved	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	3	0	0	3
glucocerebrosidase	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	3	0	0	3
alpha-galactosidase	1	0	0	1
pyruvate kinase	1	0	0	1
aryl hydrocarbon receptor	2	0	0	2
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	3	0	0	3
nuclear receptor subfamily 1, group I, member 2	3	0	0	3
Replicase polyprotein 1ab	0	1	0	1
lysosomal alpha-glucosidase preproprotein	1	0	0	1
NPC intracellular cholesterol transporter 1 precursor	1	0	0	1
vitamin D3 receptor isoform VDRA	1	0	0	1
histone deacetylase 9 isoform 3	2	0	0	2
pyruvate kinase PKM isoform a	1	0	0	1
ras-related protein Rab-9A	1	0	0	1
Transthyretin	0	0	1	1
Neuronal acetylcholine receptor subunit alpha-4	1	0	0	1
Neuronal acetylcholine receptor subunit beta-2	1	0	0	1
Endothelin receptor type B	1	0	0	1
Endothelin-1 receptor	1	0	0	1
Inhibitor of nuclear factor kappa-B kinase subunit epsilon	0	1	0	1
ATPase family AAA domain-containing protein 5	2	0	0	2
G-protein coupled receptor 35	0	0	1	1
Serine/threonine-protein kinase TBK1	0	1	0	1
Chain A, CARBONIC ANHYDRASE II	0	1	0	1
Chain A, CARBONIC ANHYDRASE II	0	1	0	1
Chain A, CARBONIC ANHYDRASE II	0	1	0	1
Carbonic anhydrase	0	0	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase 12	0	1	0	2
Carbonic anhydrase 1	0	2	0	3
Carbonic anhydrase 2	0	2	1	4
Carbonic anhydrase 3	0	1	0	2
5-hydroxytryptamine receptor 2C	0	1	0	1
Androgen receptor	0	1	0	1
5-hydroxytryptamine receptor 2A	0	1	0	1
Carbonic anhydrase 4	0	2	0	3
Carbonic anhydrase 6	0	1	0	2
Carbonic anhydrase 5A, mitochondrial	0	1	0	1
5-hydroxytryptamine receptor 2B	0	1	0	1
Delta-type opioid receptor	0	1	0	1
Delta-type opioid receptor	0	1	0	1
Mu-type opioid receptor	0	1	0	1
Carbonic anhydrase 5A, mitochondrial	0	1	0	2
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase 7	0	1	0	2
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Beta-carbonic anhydrase 1	0	1	0	1
Carbonic anhydrase 2	0	1	0	1
Carbonic anhydrase 9	0	2	0	3
Carbonic anhydrase, alpha family	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Delta carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase 13	0	1	0	1
Carbonic anhydrase 4	0	2	0	2
Carbonic anhydrase 15	0	1	0	1
Carbonic anhydrase 13	0	1	0	2
Carbonic anhydrase 14	0	1	0	2
Carbonic anhydrase 5B, mitochondrial	0	1	0	2
Glucagon-like peptide 1 receptor	0	0	1	1
Glucagon-like peptide 1 receptor	0	1	1	2
Glucagon receptor	0	0	1	1
Glucagon receptor	0	0	1	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	1	0	0	1
Chain A, Beta-lactamase	1	0	0	1
thioredoxin reductase	1	0	0	1
GLS protein	1	0	0	1
Microtubule-associated protein tau	1	0	0	1
IDH1	1	0	0	1
Potassium channel subfamily K member 3	0	1	0	1
Potassium channel subfamily K member 2	0	1	0	1
Sodium channel protein type 1 subunit alpha	0	1	0	1
Sodium channel protein type 2 subunit alpha	0	1	0	1
Sodium channel protein type 3 subunit alpha	0	1	0	1
Potassium voltage-gated channel subfamily A member 5	0	1	0	1
Potassium voltage-gated channel subfamily D member 2	0	1	0	1
Potassium channel subfamily K member 18	0	1	0	1
Multidrug and toxin extrusion protein 1	0	1	0	1
Chain A, Fatty acid-binding protein, adipocyte	0	1	0	1
GLI family zinc finger 3	2	0	0	2
Acetylcholinesterase	0	1	0	1
Toll-like receptor 2	0	1	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Fatty acid-binding protein, intestinal	0	1	0	1
Fatty acid-binding protein, adipocyte	0	2	1	3
Tyrosine-protein phosphatase non-receptor type 1	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
Fatty acid-binding protein 5	0	2	1	3
Peroxisome proliferator-activated receptor alpha	1	0	1	2
Olfactory receptor 51E2	0	0	1	1
Transient receptor potential cation channel subfamily V member 2	0	1	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	1	0	0	1
Flavin reductase (NADPH)	0	0	1	1
Melanocyte-stimulating hormone receptor	0	1	1	2
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	1	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(4)

Research

Studies (15)

Protein Targets (302)

Alstrom Syndrome

Synonyms(4)

Research

Studies (15)

Drugs Studied (25)

Protein Targets (302)