Donohue Syndrome

Rare autosomal recessive syndrome, characterized by a milder set of clinical features with prolonged survival, compared to Donohue syndrome. Mutations in the same INSULIN RECEPTOR, mostly in the non-binding domain, result in Rabson-Mendenhall syndrome (allelic heterogeneity). Clinical features include insulin-resistant DIABETES MELLITUS, often with ACANTHOSIS NIGRICANS; DIABETIC KETOACIDOSIS; HYPERTRICHOSIS; and dysmorphisms.

Synonym
Donohue Syndrome
Mendenhall Syndrome
Leprechaunism
Rabson-Mendenhall Syndrome
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	0 (0.00)	23.3326
1990's	0 (0.00)	12.5806
2000's	0 (0.00)	18.1394
2010's	7 (70.00)	28.8240
2020's	3 (30.00)	9.53

Drug	Relationship Strength	Studies	Trials
pioglitazone	low	2	0
propranolol	low	2	0
glutamine	low	1	0
histidine	low	1	0
adamantane	low	1	0
glucose, (beta-d)-isomer	low	1	0
vildagliptin	low	1	0
empagliflozin	low	1	0
c-peptide	low	1	0
leptin	medium	3	2

Protein Targets (195)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Sodium/glucose cotransporter 1	0	0	1	1
Sodium/glucose cotransporter 2	0	1	1	2
Glycogen phosphorylase, muscle form	0	1	0	1
Asialoglycoprotein receptor 1	0	1	1	2
Chain A, Glutamine Binding Protein	0	0	1	1
thioredoxin reductase	2	0	0	2
15-lipoxygenase, partial	1	0	0	1
GLS protein	1	0	0	1
arylsulfatase A	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
Bloom syndrome protein isoform 1	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
flap endonuclease 1	2	0	0	2
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
Carbonic anhydrase 1	0	0	0	3
Carbonic anhydrase 2	0	1	0	4
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
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, HISTIDINE-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
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
ATAD5 protein, partial	1	0	0	1
cytochrome P450 3A4 isoform 1	1	0	0	1
histone acetyltransferase KAT2A isoform 1	1	0	0	1
Gamma-aminobutyric acid receptor subunit pi	1	1	1	3
Carbonic anhydrase 12	0	0	0	1
Plasma kallikrein	0	0	0	1
Carbonic anhydrase 3	0	0	0	1
Histidine-binding periplasmic protein	0	0	1	1
Gamma-aminobutyric acid receptor subunit beta-1	1	1	1	3
Gamma-aminobutyric acid receptor subunit delta	1	1	1	3
Gamma-aminobutyric acid receptor subunit gamma-2	1	1	1	3
Gamma-aminobutyric acid receptor subunit alpha-5	1	1	1	3
Gamma-aminobutyric acid receptor subunit alpha-3	1	1	1	3
Carbonic anhydrase 4	0	0	0	1
Carbonic anhydrase 6	0	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-1	1	1	1	3
Gamma-aminobutyric acid receptor subunit alpha-2	1	1	1	3
Adenosine receptor A1	0	0	0	1
5-hydroxytryptamine receptor 1D	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	1	1	1	3
Gamma-aminobutyric acid receptor subunit gamma-3	1	1	1	3
Gamma-aminobutyric acid receptor subunit alpha-6	1	1	1	3
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	0	0	0	1
Carbonic anhydrase 7	0	0	0	1
Carbonic anhydrase	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	1	1	1	3
Gamma-aminobutyric acid receptor subunit beta-3	1	1	1	3
Gamma-aminobutyric acid receptor subunit beta-2	1	1	1	3
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
Glutaminyl-peptide cyclotransferase	0	1	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
Carbonic anhydrase 13	0	0	0	1
Glutamate receptor ionotropic, NMDA 3B	0	0	0	1
GABA theta subunit	1	1	1	3
Carbonic anhydrase 4	0	0	0	1
Carbonic anhydrase 15	0	0	0	1
Carbonic anhydrase 13	0	0	0	1
Gamma-aminobutyric acid receptor subunit epsilon	1	1	1	3
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, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	1	0	0	1
TDP1 protein	2	0	0	2
aldehyde dehydrogenase 1 family, member A1	1	0	0	1
EWS/FLI fusion protein	1	0	0	1
CDGSH iron-sulfur domain-containing protein 1	0	1	0	1
tyrosine-protein kinase Yes	1	0	0	1
Free fatty acid receptor 1	0	0	1	1
ATP-binding cassette sub-family C member 3	0	3	0	3
Multidrug resistance-associated protein 4	0	3	0	3
Bile salt export pump	0	2	0	2
Peroxisome proliferator-activated receptor gamma	0	1	0	1
Bile salt export pump	0	3	0	3
Muscarinic acetylcholine receptor M1	0	0	1	1
Muscarinic acetylcholine receptor M3	0	0	1	1
Muscarinic acetylcholine receptor M4	0	0	1	1
Steryl-sulfatase	0	1	0	1
Muscarinic acetylcholine receptor M5	0	0	1	1
Muscarinic acetylcholine receptor M2	0	0	1	1
Tyrosine-protein phosphatase non-receptor type 1	0	1	0	1
Carnitine O-palmitoyltransferase 2, mitochondrial	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Amine oxidase [flavin-containing] A	0	1	0	1
Amine oxidase [flavin-containing] A	0	1	0	1
Peroxisome proliferator-activated receptor alpha	0	1	0	1
Carnitine O-palmitoyltransferase 2, mitochondrial	0	1	0	1
Amine oxidase [flavin-containing] B	0	2	0	2
Peroxisome proliferator-activated receptor gamma	0	2	2	5
Peroxisome proliferator-activated receptor gamma	0	1	1	2
Carnitine O-palmitoyltransferase 1, liver isoform	0	1	0	1
Peroxisome proliferator-activated receptor alpha	0	1	1	2
Enoyl-[acyl-carrier-protein] reductase [NADH]	0	1	0	1
CDGSH iron-sulfur domain-containing protein 2	0	1	0	1
CDGSH iron-sulfur domain-containing protein 1	0	2	0	2
Beta-1 adrenergic receptor	0	1	1	3
D(1A) dopamine receptor	1	0	0	1
Solute carrier family 22 member 1	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
5-hydroxytryptamine receptor 4	0	2	0	2
Albumin	0	0	1	1
Cytochrome P450 1A2	0	1	0	1
Beta-2 adrenergic receptor	0	2	1	3
Muscarinic acetylcholine receptor M2	0	1	1	2
ATP-dependent translocase ABCB1	0	2	0	2
Beta-1 adrenergic receptor	0	2	1	3
Cytochrome P450 3A4	0	1	0	1
5-hydroxytryptamine receptor 1A	0	1	0	1
Alpha-2A adrenergic receptor	0	1	2	4
Adenosine receptor A3	0	1	1	2
Beta-2 adrenergic receptor	0	2	0	3
Cytochrome P450 2C8	0	1	0	1
Cytochrome P450 2D6	0	1	0	1
Muscarinic acetylcholine receptor M1	0	1	1	2
Cytochrome P450 2C9	0	1	0	1
Beta-3 adrenergic receptor	0	2	1	3
D(2) dopamine receptor	0	1	1	2
Alpha-1B adrenergic receptor	0	1	1	2
Alpha-2B adrenergic receptor	0	0	1	2
Beta-1 adrenergic receptor	0	2	1	4
Alpha-2C adrenergic receptor	0	1	2	4
D(3) dopamine receptor	0	1	0	1
5-hydroxytryptamine receptor 1A	0	2	1	4
Alpha-2B adrenergic receptor	0	0	1	1
Muscarinic acetylcholine receptor M3	0	1	1	2
D(1A) dopamine receptor	0	1	1	2
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Alpha-2C adrenergic receptor	0	0	1	1
Alpha-2A adrenergic receptor	0	0	1	1
Alpha-1D adrenergic receptor	0	1	1	2
Alpha-1D adrenergic receptor	0	0	1	2
Endothelin-1 receptor	0	1	1	2
Beta-3 adrenergic receptor	0	2	0	2
5-hydroxytryptamine receptor 1B	0	2	1	3
5-hydroxytryptamine receptor 2A	0	2	1	3
5-hydroxytryptamine receptor 2C	0	2	1	3
5-hydroxytryptamine receptor 1B	0	2	0	2
Adenosine receptor A2a	0	1	1	2
Neuromedin-K receptor	0	0	1	1
Type-1 angiotensin II receptor	0	1	1	2
Sodium-dependent serotonin transporter	0	2	0	2
Cholecystokinin receptor type A	0	1	1	2
Cytochrome P450 2C19	0	1	0	1
5-hydroxytryptamine receptor 7	0	1	1	2
Beta-1 adrenergic receptor	0	1	0	1
Alpha-1A adrenergic receptor	0	1	2	4
Alpha-1B adrenergic receptor	0	0	1	2
Mu-type opioid receptor	0	1	1	2
Vasopressin V1a receptor	0	1	1	2
Delta-type opioid receptor	0	1	1	2
Kappa-type opioid receptor	0	1	1	2
5-hydroxytryptamine receptor 2B	0	2	1	3
Alpha-1A adrenergic receptor	0	1	1	2
5-hydroxytryptamine receptor 6	0	2	1	3
5-hydroxytryptamine receptor 7	0	1	0	1
Cytochrome P450 2J2	0	1	0	1
Beta-2 adrenergic receptor	0	1	0	1
Potassium voltage-gated channel subfamily H member 2	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	1	0	1
Sodium/bile acid cotransporter	0	1	0	1
Beta-2 adrenergic receptor	0	1	1	3
Canalicular multispecific organic anion transporter 1	0	2	0	2
Ataxin-2	1	0	0	1
Sigma non-opioid intracellular receptor 1	0	2	0	2
Nuclear receptor subfamily 2 group E member 1	0	0	2	2
Dipeptidyl peptidase 9	0	1	0	1
Dipeptidyl peptidase IV	0	2	0	2
Kynurenine 3-monooxygenase	0	1	0	1
Heat shock protein HSP 90-beta	0	1	0	1
Dipeptidyl peptidase 4	0	1	0	1
Dipeptidyl peptidase 4	0	2	1	3
Dipeptidyl peptidase 4	0	1	0	1
Prolyl endopeptidase	0	1	0	1
Prolyl endopeptidase FAP	0	1	0	1
Prolyl endopeptidase FAP	0	1	0	1
Dipeptidyl peptidase 8	0	2	0	2
Dipeptidyl peptidase 9	0	2	0	2
Dipeptidyl peptidase 2	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(5)

Research Excerpts

Research

Studies (10)

Protein Targets (195)

Donohue Syndrome

Synonyms(5)

Research Excerpts

Research

Studies (10)

Drugs Studied (10)

Protein Targets (195)