Dysostoses

Synonym
Dysostoses
Dysostosis

Excerpt	Reference
"Pycnodysostosis is an inborn skeletal syndrome manifested by short stature with a concomitant spinal deformity and by dense sclerotic fragile bones."	( Fast, A; Floman, Y; Gomori, JM, 1989)
"Acrodysostosis is usually caused by an autosomal gene, but in this case it was probably due to a new mutation."	( Becker, S; Laszig, R; Mausolf, A, 1989)
"Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently mental retardation."	( Akin, C; Aras, M; Koseoglu, F; Sezer, N; Sutbeyaz, ST, 2009)
"Acrodysostosis is a rare autosomal dominant disorder characterized by short stature, peculiar facial appearance with nasal hypoplasia, and short metacarpotarsals and phalanges with cone-shaped epiphyses."	( Fukami, M; Iida, T; Kikuchi, T; Nagasaki, K; Ogata, T; Ogawa, Y; Saitoh, A; Sato, H, 2012)
"Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones."	( Bertsche, A; Gesing, J; Hirsch, FW; Hoppmann, J; Kiess, W; Leroy, C; Pfäffle, R; Schuster, V; Silve, C, 2017)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	13 (30.95)	23.3326
1990's	2 (4.76)	12.5806
2000's	10 (23.81)	18.1394
2010's	15 (35.71)	28.8240
2020's	2 (4.76)	9.53

Drug	Relationship Strength	Studies
carnitine	low	1
caffeine	low	1
halothane	low	1
rolipram	low	1
prednisolone	low	1
serine	low	1
medroxyprogesterone acetate	low	1
zinc oxide	low	1
trolamine salicylate	low	3
propiconazole	low	1
colforsin	low	1
tretinoin	low	1
retinol	low	1
mercaptopurine	low	1
dermatan sulfate	low	1
phenylephrine hydrochloride	low	6
sultan	low	1
acid phosphatase	low	1
hes1 protein, human	low	1
chondroitin	low	1
epidermal growth factor	low	1
transforming growth factor beta	low	1
hyaluronoglucosaminidase	low	1
vitamin b 12	low	1
chondroitin sulfates	low	1
eye	low	3

Protein Targets (351)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, Glycogen Phosphorylase	0	1	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
Chain A, Chitinase	0	1	0	1
phosphopantetheinyl transferase	6	0	0	6
RAR-related orphan receptor gamma	10	0	0	10
GLS protein	2	0	0	2
GLI family zinc finger 3	10	0	0	10
AR protein	9	0	0	9
nuclear receptor subfamily 1, group I, member 3	7	0	0	7
glucocorticoid receptor [Homo sapiens]	9	0	0	9
retinoic acid nuclear receptor alpha variant 1	8	0	0	8
retinoid X nuclear receptor alpha	8	0	0	8
estrogen-related nuclear receptor alpha	9	0	0	9
farnesoid X nuclear receptor	6	0	0	6
pregnane X nuclear receptor	8	0	0	8
estrogen nuclear receptor alpha	11	0	0	11
euchromatic histone-lysine N-methyltransferase 2	5	0	0	5
thyroid stimulating hormone receptor	7	0	0	7
v-jun sarcoma virus 17 oncogene homolog (avian)	3	0	0	3
atrial natriuretic peptide receptor 1 precursor	1	0	0	1
chromobox protein homolog 1	6	0	0	6
thyroid hormone receptor beta isoform a	3	0	0	3
thyroid hormone receptor beta isoform 2	6	0	0	6
DNA polymerase beta	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	9	0	0	9
nuclear receptor ROR-gamma isoform 1	4	0	0	4
geminin	6	0	0	6
DNA polymerase kappa isoform 1	3	0	0	3
muscarinic acetylcholine receptor M1	2	0	0	2
lethal factor (plasmid)	2	0	0	2
ATP-binding cassette sub-family C member 3	0	4	0	4
Multidrug resistance-associated protein 4	0	4	0	4
Voltage-dependent calcium channel gamma-2 subunit	8	0	0	8
Potassium channel subfamily K member 2	0	0	1	1
Bile salt export pump	0	6	0	6
Glycogen phosphorylase, muscle form	0	1	0	1
Renin	0	2	0	2
Carbonic anhydrase 1	0	1	0	1
Carbonic anhydrase 2	0	1	0	1
Cholinesterase	0	1	0	1
Glycogen phosphorylase, liver form	0	1	0	1
Glycogen phosphorylase, muscle form	0	1	0	1
Replicase polyprotein 1ab	0	1	0	1
Adenosine receptor A3	0	3	0	3
Replicase polyprotein 1ab	0	1	0	1
Glutamate receptor 2	8	0	0	8
Amine oxidase [flavin-containing] A	0	1	0	1
Acetylcholinesterase	0	1	0	1
Adenosine receptor A1	0	3	0	4
Amine oxidase [flavin-containing] B	0	2	0	2
cAMP-specific 3',5'-cyclic phosphodiesterase 4A	0	3	1	5
Adenosine receptor A3	0	1	0	1
Adenosine receptor A2a	0	2	1	4
Adenosine receptor A2b	0	1	0	2
Adenosine receptor A2b	0	3	0	4
Adenosine receptor A1	0	1	1	4
Adenosine receptor A2a	0	3	0	5
Vasopressin V2 receptor	0	0	0	1
Serine/threonine-protein kinase mTOR	0	1	0	1
Adenosine receptor A2a	0	1	0	1
Adenosine receptor A1	0	1	0	1
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	0	1	0	1
DNA-dependent protein kinase catalytic subunit	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	2	0	2
Adenylate cyclase type 1	0	1	1	3
Chitotriosidase-1	0	1	0	1
Serine-protein kinase ATM	0	1	0	1
Serine/threonine-protein kinase ATR	0	1	0	1
Adenosine receptor A2b	0	1	0	2
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C	0	2	0	2
Palmitoleoyl-protein carboxylesterase NOTUM	0	1	2	3
Endochitinase B1	0	1	0	1
Muscarinic acetylcholine receptor	0	0	0	1
Canalicular multispecific organic anion transporter 1	0	4	0	4
Phosphodiesterase	0	2	0	2
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	1	0	1
Guanine deaminase	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
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
glp-1 receptor, partial	4	0	0	4
pregnane X receptor	5	0	0	5
TDP1 protein	8	0	0	8
estrogen receptor 2 (ER beta)	4	0	0	4
progesterone receptor	5	0	0	5
cytochrome P450 family 3 subfamily A polypeptide 4	5	0	0	5
G	4	0	0	4
peroxisome proliferator-activated receptor delta	5	0	0	5
peroxisome proliferator activated receptor gamma	6	0	0	6
vitamin D (1,25- dihydroxyvitamin D3) receptor	7	0	0	7
aryl hydrocarbon receptor	5	0	0	5
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	7	0	0	7
nuclear receptor subfamily 1, group I, member 2	3	0	0	3
nuclear receptor subfamily 0 group B member 1	0	1	0	1
steroidogenic factor 1	0	1	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	2	0	0	2
peripheral myelin protein 22	4	0	0	4
relaxin receptor 1 isoform 1	1	0	0	1
relaxin receptor 2 isoform 1	1	0	0	1
Nuclear receptor subfamily 1 group I member 2	0	0	1	1
Rap guanine nucleotide exchange factor 3	1	0	0	1
Interferon beta	5	0	0	5
HLA class I histocompatibility antigen, B alpha chain	4	0	0	4
Cellular tumor antigen p53	9	0	0	9
ATP-dependent translocase ABCB1	0	1	0	1
5-hydroxytryptamine receptor 1A	0	1	0	1
Solute carrier family 2, facilitated glucose transporter member 1	0	0	1	1
Adenylate cyclase type 2	0	0	1	1
Adenylate cyclase type 8	0	0	1	1
Inositol hexakisphosphate kinase 1	4	0	0	4
ATPase family AAA domain-containing protein 5	5	0	0	5
Ataxin-2	5	0	0	5
Relaxin receptor 1	0	0	1	1
Nuclear receptor subfamily 1 group I member 2	0	0	1	1
cytochrome P450 2C9, partial	4	0	0	4
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
Chain A, Cruzipain	5	0	0	5
aldehyde dehydrogenase 1 family, member A1	5	0	0	5
Albumin	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	2	0	0	2
Chain A, Beta-lactamase	4	0	0	4
interleukin 8	2	0	0	2
SMAD family member 2	3	0	0	3
ATAD5 protein, partial	1	0	0	1
SMAD family member 3	3	0	0	3
PINK1	1	0	0	1
nonstructural protein 1	3	0	0	3
Parkin	2	0	0	2
IDH1	4	0	0	4
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	3	0	0	3
transcriptional regulator ERG isoform 3	2	0	0	2
DNA polymerase iota isoform a (long)	4	0	0	4
cytochrome P450 3A4 isoform 1	4	0	0	4
lamin isoform A-delta10	2	0	0	2
neuropeptide S receptor isoform A	1	0	0	1
Gamma-aminobutyric acid receptor subunit pi	4	0	0	4
Estrogen receptor	0	3	1	4
Glucocorticoid receptor	0	4	2	11
Sex hormone-binding globulin	0	0	1	1
Progesterone receptor	0	4	1	6
Glycine receptor subunit alpha-1	0	4	0	4
Mineralocorticoid receptor	0	3	1	4
Androgen receptor	0	4	2	6
Androgen receptor	0	3	0	3
Gamma-aminobutyric acid receptor subunit beta-1	4	0	0	4
Gamma-aminobutyric acid receptor subunit delta	4	0	0	4
Gamma-aminobutyric acid receptor subunit gamma-2	4	0	0	4
Androgen receptor	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-5	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-3	4	0	0	4
Glycine receptor subunit beta	0	4	0	4
Glycine receptor subunit alpha-2	0	4	0	4
Gamma-aminobutyric acid receptor subunit gamma-1	4	0	0	4
Gamma-aminobutyric acid receptor subunit alpha-2	4	0	0	4
Glycine receptor subunit alpha-3	0	4	0	4
Histamine H2 receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	4	0	0	4
Gamma-aminobutyric acid receptor subunit gamma-3	4	0	0	4
5-hydroxytryptamine receptor 1B	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	4	0	0	4
Alpha-synuclein	1	2	0	3
Aldo-keto reductase family 1 member C3	0	1	0	1
Nuclear receptor ROR-gamma	2	1	1	4
Aldo-keto reductase family 1 member C2	0	1	0	1
Spike glycoprotein	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	4	0	0	4
Gamma-aminobutyric acid receptor subunit beta-3	4	0	0	4
Guanine nucleotide-binding protein G	2	0	0	2
Gamma-aminobutyric acid receptor subunit beta-2	4	0	0	4
Aldo-keto reductase family 1 member C1	0	1	0	1
GABA theta subunit	4	0	0	4
Estrogen receptor beta	0	3	1	4
Gamma-aminobutyric acid receptor subunit epsilon	4	0	0	4
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	1	0	0	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	1	0	0	1
Chain A, JmjC domain-containing histone demethylation protein 3A	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	5	0	0	5
Fumarate hydratase	1	0	0	1
thioredoxin glutathione reductase	2	0	0	2
apical membrane antigen 1, AMA1	1	0	0	1
EWS/FLI fusion protein	1	0	0	1
cytochrome P450 2D6	1	0	0	1
polyprotein	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	2	0	0	2
Histone H2A.x	1	0	0	1
hemoglobin subunit beta	1	0	0	1
cellular tumor antigen p53 isoform a	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 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
survival motor neuron protein isoform d	2	0	0	2
histone acetyltransferase KAT2A isoform 1	2	0	0	2
UDP-glucose 6-dehydrogenase	0	1	0	1
Solute carrier family 22 member 8	0	0	0	1
Hypoxanthine-guanine phosphoribosyltransferase	0	0	0	1
Integrin beta-3	1	0	0	1
Integrin alpha-IIb	1	0	0	1
UDP-glucose 6-dehydrogenase	0	1	0	1
Prostaglandin G/H synthase 1	0	2	0	2
Purine nucleoside phosphorylase	0	0	1	1
UDP-glucuronosyltransferase 1A1	0	1	0	1
thioredoxin reductase	4	0	0	4
GALC protein	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	2	0	0	2
beta-2 adrenergic receptor	1	0	0	1
Bloom syndrome protein isoform 1	3	0	0	3
lysosomal alpha-glucosidase preproprotein	1	0	0	1
mu-type opioid receptor isoform MOR-1	0	0	1	1
Vpr	1	0	0	1
5-hydroxytryptamine receptor 2A	0	0	1	1
Neuronal acetylcholine receptor subunit alpha-4	1	0	0	1
Neuronal acetylcholine receptor subunit beta-2	1	0	0	1
luciferase	0	0	0	1
hypoxia-inducible factor 1 alpha subunit	2	0	0	2
Fatty acid-binding protein, liver	0	1	0	1
Glucocorticoid receptor	0	1	1	2
Glucocorticoid receptor	0	0	1	1
Corticosteroid-binding globulin	0	1	0	1
Cytochrome P450 2C9	0	1	1	2
Glutamine synthetase	0	0	1	1
Histamine H1 receptor	0	0	1	1
Prostaglandin G/H synthase 2	0	1	0	1
Nociceptin receptor	0	0	1	1
Cytochrome P450 2J2	0	1	0	1
Chain A, Ferritin light chain	2	0	0	2
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
vitamin D3 receptor isoform VDRA	3	0	0	3
heat shock protein HSP 90-alpha isoform 2	0	0	0	1
Polyunsaturated fatty acid lipoxygenase ALOX15B	1	0	0	1
Cytochrome P450 3A4	0	1	1	2
Histamine H2 receptor	1	0	0	1
TAR DNA-binding protein 43	1	0	0	1
heat shock protein 90, putative	0	0	0	1
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR	0	0	1	1
acetylcholinesterase	1	0	0	1
15-lipoxygenase, partial	1	0	0	1
USP1 protein, partial	3	0	0	3
Microtubule-associated protein tau	2	0	0	2
thyroid stimulating hormone receptor	1	0	0	1
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	1	0	0	1
potassium voltage-gated channel subfamily H member 2 isoform d	1	0	0	1
heat shock protein beta-1	2	0	0	2
mitogen-activated protein kinase 1	2	0	0	2
ubiquitin carboxyl-terminal hydrolase 2 isoform a	1	0	0	1
Retinol-binding protein 4	0	0	1	1
Beta-lactoglobulin	0	0	1	1
Amyloid-beta precursor protein	0	2	0	2
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
arylsulfatase A	1	0	0	1
flap endonuclease 1	1	0	0	1
cGMP-dependent 3',5'-cyclic phosphodiesterase	0	2	0	2
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A	0	1	0	1
Retina-specific copper amine oxidase	0	1	0	1
cGMP-specific 3',5'-cyclic phosphodiesterase	0	2	0	3
High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A	0	1	0	1
3',5'-cyclic-AMP phosphodiesterase	0	1	0	1
High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B	0	1	0	1
Tumor necrosis factor	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	2	0	3
cAMP-specific 3',5'-cyclic phosphodiesterase 4C	0	2	0	3
cAMP-specific 3',5'-cyclic phosphodiesterase 4B	0	2	0	4
Sodium-dependent noradrenaline transporter	0	1	0	1
Sodium-dependent serotonin transporter	0	1	0	1
Delta-type opioid receptor	0	1	0	1
Delta-type opioid receptor	0	1	0	1
Bifunctional epoxide hydrolase 2	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4A	0	2	0	3
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	0	2	0	3
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	1	0	1
cGMP-dependent 3',5'-cyclic phosphodiesterase	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B	0	2	0	3
cAMP-specific 3',5'-cyclic phosphodiesterase 4B	0	2	1	3
cAMP-specific 3',5'-cyclic phosphodiesterase 4C	0	2	0	2
cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	2	1	4
cGMP-inhibited 3',5'-cyclic phosphodiesterase B	0	2	0	3
High affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A	0	1	0	1
Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C	0	2	0	3
cGMP-inhibited 3',5'-cyclic phosphodiesterase A	0	2	0	3
cGMP-specific 3',5'-cyclic phosphodiesterase	0	1	0	1
Endothelin-1 receptor	0	1	0	1
Phosphodiesterase	0	1	0	1
Protein cereblon	0	2	0	2
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 7B	0	1	0	1
Phosphodiesterase	0	1	0	1
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A	0	1	0	1
Acetylcholinesterase	0	1	0	1
Pyruvate kinase PKM	0	0	1	1
Neutral amino acid transporter A	0	1	0	1
Cholinesterase	0	1	0	1
Neutral amino acid transporter B(0)	0	1	0	1
Proton-coupled amino acid transporter 1	0	1	0	1
Amino acid transporter	0	1	0	1
Chain A, Nuclear Receptor ROR-beta	0	1	0	1
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
Luciferase	1	0	0	1
regulator of G-protein signaling 4	1	0	0	1
activating transcription factor 6	1	0	0	1
thyrotropin-releasing hormone receptor	1	0	0	1
Caspase-7	1	0	0	1
caspase-3	1	0	0	1
M-phase phosphoprotein 8	1	0	0	1
Ornithine decarboxylase	0	0	0	1
Cytochrome P450 1A2	0	0	1	1
Ornithine decarboxylase	0	0	0	1
60 kDa chaperonin	0	1	0	1
Retinoic acid receptor alpha	0	2	2	7
Cytochrome P450 2D6	0	0	1	1
60 kDa heat shock protein, mitochondrial	0	1	0	1
Retinoic acid receptor beta	0	2	2	7
Retinoic acid receptor alpha	0	1	2	3
Retinoic acid receptor gamma	0	2	2	7
Alpha-1B adrenergic receptor	0	2	0	2
Alpha-1A adrenergic receptor	0	1	0	1
Retinoic acid receptor gamma	0	1	2	3
5-hydroxytryptamine receptor 1A	0	1	0	1
Retinoic acid receptor RXR-alpha	0	2	2	4
Retinoic acid receptor beta	0	1	2	3
Cellular retinoic acid-binding protein 2	0	0	1	1
Alpha-1D adrenergic receptor	0	1	0	1
Mitogen-activated protein kinase 1	0	1	0	1
Retinoic acid receptor RXR-alpha	0	1	2	3
Retinoic acid receptor RXR-beta	0	2	2	4
Retinoic acid receptor RXR-beta	0	1	2	3
Retinoic acid receptor RXR-gamma	0	1	2	3
Indoleamine 2,3-dioxygenase 1	0	1	0	1
Cytochrome P450 2C19	0	0	1	1
Nuclear receptor ROR-alpha	0	1	0	1
Cellular retinoic acid-binding protein 1	0	1	0	2
5-hydroxytryptamine receptor 2B	0	2	0	2
Alpha-1A adrenergic receptor	0	2	0	2
Retinoic acid receptor RXR-gamma	0	2	2	4
10 kDa heat shock protein, mitochondrial	0	1	0	1
Cellular retinoic acid-binding protein 1	0	0	1	1
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	0	2	1	3
Thiosulfate sulfurtransferase	0	1	0	1
60 kDa chaperonin	0	1	0	1
10 kDa chaperonin	0	1	0	1
Indoleamine 2,3-dioxygenase 2	0	1	0	1
Nuclear receptor ROR-beta	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(2)

Research Excerpts

Overview

Research

Studies (42)

Protein Targets (351)

Dysostoses

Synonyms(2)

Research Excerpts

Overview

Research

Studies (42)

Drugs Studied (31)

Protein Targets (351)