Page last updated: 2024-09-27

Coffin Syndrome

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Synonyms(3)

Synonym
Mental Retardation with Osteocartilaginous Abnormalities
Coffin-Lowry Syndrome
Coffin Syndrome

Research

Studies (10)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's6 (60.00)18.1394
2010's3 (30.00)28.8240
2020's1 (10.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid0low10
risperidone0medium11
n-methylaspartate0low20
calcium pyrophosphate0low10
trolamine salicylate0low10
sodium oxybate0low10

Protein Targets (153)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 22002
chromobox protein homolog 11001
flap endonuclease 11001
Glutamate receptor ionotropic, NMDA 2D0101
Glutamate receptor ionotropic, NMDA 3B0101
Integrin beta-30101
Integrin alpha-IIb0101
Glutamate receptor 10314
Glutamate receptor 21315
Glutamate receptor 30314
Glutamate receptor 40314
Glutamate receptor ionotropic, kainate 10303
Glutamate receptor 10112
Glutamate receptor 20101
Glutamate receptor ionotropic, NMDA 1 0416
Glutamate receptor ionotropic, kainate 10202
Glutamate receptor ionotropic, kainate 20303
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30202
Glutamate receptor ionotropic, kainate 30202
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor 40202
Glutamate receptor ionotropic, NMDA 2A 0416
Glutamate receptor ionotropic, NMDA 2B0416
Glutamate receptor ionotropic, NMDA 2C0416
Glutamate receptor ionotropic, kainate 40202
Glutamate receptor ionotropic, NMDA 10101
Glutamate receptor ionotropic, NMDA 2A0101
Glutamate receptor ionotropic, kainate 20202
Glutamate receptor ionotropic, kainate 30101
Glutamate receptor ionotropic, NMDA 2B0101
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, kainate 40101
Glutamate receptor ionotropic, kainate 50101
Glutamate receptor ionotropic, NMDA 2D0416
Glutamate receptor ionotropic, kainate 50202
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0416
Glutamate receptor ionotropic, NMDA 3A0416
Glutamate receptor 40101
Glutamate receptor 30101
Chain A, HADH2 protein1001
Chain B, HADH2 protein1001
Chain A, JmjC domain-containing histone demethylation protein 3A2002
Chain A, 2-oxoglutarate Oxygenase1001
phosphopantetheinyl transferase1001
GLS protein1001
aldehyde dehydrogenase 1 family, member A11001
thyroid stimulating hormone receptor2002
cytochrome P450 2C19 precursor2002
DNA polymerase iota isoform a (long)1001
geminin1001
muscarinic acetylcholine receptor M12002
acetylcholinesterase1001
thioredoxin reductase1001
TDP1 protein1001
AR protein1001
Smad31001
EWS/FLI fusion protein1001
estrogen-related nuclear receptor alpha1001
estrogen nuclear receptor alpha1001
cytochrome P450 2D61001
thyroid stimulating hormone receptor1001
cytochrome P450 2D6 isoform 11001
peripheral myelin protein 22 isoform 11001
potassium voltage-gated channel subfamily H member 2 isoform d1001
transcriptional regulator ERG isoform 31001
nuclear factor erythroid 2-related factor 2 isoform 11001
peripheral myelin protein 221001
survival motor neuron protein isoform d1001
Solute carrier family 22 member 20101
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Voltage-dependent L-type calcium channel subunit alpha-1F0101
5-hydroxytryptamine receptor 40202
Voltage-dependent calcium channel gamma-2 subunit1001
Bile salt export pump0101
Albumin0011
Muscarinic acetylcholine receptor M20101
Muscarinic acetylcholine receptor M40101
ATP-dependent translocase ABCB10001
Cytochrome P450 3A40101
5-hydroxytryptamine receptor 1A0123
5-hydroxytryptamine receptor 2C0202
Muscarinic acetylcholine receptor M50101
Alpha-2A adrenergic receptor0202
Cytochrome P450 2D60101
Muscarinic acetylcholine receptor M10101
Angiotensin-converting enzyme0202
D(2) dopamine receptor0202
5-hydroxytryptamine receptor 2A0202
Alpha-1B adrenergic receptor0101
Alpha-2B adrenergic receptor0202
Beta-1 adrenergic receptor0101
Alpha-2C adrenergic receptor0202
D0101
D(3) dopamine receptor0101
5-hydroxytryptamine receptor 1A0202
Alpha-2B adrenergic receptor0101
Muscarinic acetylcholine receptor M30202
D(1A) dopamine receptor0202
D(4) dopamine receptor0101
Alpha-2C adrenergic receptor0101
Alpha-2A adrenergic receptor0101
Glycine receptor subunit alpha-10011
Alpha-1D adrenergic receptor0101
Sodium-dependent dopamine transporter0101
Histamine H2 receptor0202
Alpha-1D adrenergic receptor0202
5-hydroxytryptamine receptor 2A0202
5-hydroxytryptamine receptor 2C0202
5-hydroxytryptamine receptor 1B0202
5-hydroxytryptamine receptor 2B0202
Histamine H1 receptor0101
Sodium-dependent serotonin transporter0101
5-hydroxytryptamine receptor 7 0101
5-hydroxytryptamine receptor 2C 0101
5-hydroxytryptamine receptor 70101
Alpha-1A adrenergic receptor0202
5-hydroxytryptamine receptor 2A0101
Histamine H1 receptor0202
Alpha-1B adrenergic receptor0101
D(3) dopamine receptor0202
5-hydroxytryptamine receptor 2B0202
Alpha-1A adrenergic receptor0101
5-hydroxytryptamine receptor 60101
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0101
Spike glycoprotein1001
D(2) dopamine receptor0101
D(2) dopamine receptor0202
Voltage-dependent L-type calcium channel subunit alpha-1D 0101
5-hydroxytryptamine receptor 2B0101
Potassium voltage-gated channel subfamily H member 20202
Voltage-dependent L-type calcium channel subunit alpha-1S0101
Voltage-dependent L-type calcium channel subunit alpha-1C0101
Sodium channel protein type 5 subunit alpha0101
Transporter0101
5-hydroxytryptamine receptor 1A0101
Nuclear receptor subfamily 3 group C member 3 0202
Multidrug and toxin extrusion protein 20101
Canalicular multispecific organic anion transporter 10101
Multidrug and toxin extrusion protein 10101
Transporter0101
Histamine H3 receptor0101
Free fatty acid receptor 30011
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
RAR-related orphan receptor gamma1001
retinoid X nuclear receptor alpha1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]