Pycnodysostosis

Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.

Synonym
Pycnodysostosis
Pyknodysostosis

Excerpt	Reference
"Pycnodysostosis is a rare autosomal recessive osteosclerotic bone disorder associated with short stature and multiple bony abnormalities."	( Singh, RK; Verma, V, 2020)

Excerpt	Reference
"Patients with pycnodysostosis have been reported to present specific dental abnormalities; however, whether these dental abnormalities are related to dysfunctional CTSK has never been reported."	( Cai, T; Dong, M; Duan, X; Gao, S; He, L; Hu, K; Li, Q; Mao, T; Shi, S; Wang, L; Xia, D; Xue, Y, 2015)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	1 (16.67)	23.3326
1990's	0 (0.00)	12.5806
2000's	0 (0.00)	18.1394
2010's	4 (66.67)	28.8240
2020's	1 (16.67)	9.53

Drug	Relationship Strength	Studies
adenine	low	1
phenol	low	1
thyroxine	low	1
tyrosine	low	1
tryptophan	low	1
phenylephrine hydrochloride	low	1
cysteine	low	1
guanine	low	1

Protein Targets (224)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	1	0	0	1
Chain A, MTA/SAH nucleosidase	0	1	0	1
Chain A, Ribosome-inactivating protein alpha-trichosanthin	0	0	1	1
Chain A, Ricin A chain	0	0	1	1
Chain A, Ribosome-inactivating protein 3	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
RAR-related orphan receptor gamma	4	0	0	4
TDP1 protein	3	0	0	3
AR protein	3	0	0	3
nuclear receptor subfamily 1, group I, member 3	2	0	0	2
cytochrome P450 family 3 subfamily A polypeptide 4	2	0	0	2
glucocorticoid receptor [Homo sapiens]	3	0	0	3
estrogen-related nuclear receptor alpha	4	0	0	4
pregnane X nuclear receptor	2	0	0	2
estrogen nuclear receptor alpha	5	0	0	5
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	3	0	0	3
nuclear factor erythroid 2-related factor 2 isoform 2	1	0	0	1
heat shock protein beta-1	1	0	0	1
importin subunit beta-1 isoform 1	1	0	0	1
snurportin-1	1	0	0	1
tumor susceptibility gene 101 protein	1	0	0	1
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
lamin isoform A-delta10	4	0	0	4
Voltage-dependent calcium channel gamma-2 subunit	1	0	0	1
Bile salt export pump	0	1	0	1
Cyclin-dependent kinase 1	0	1	0	1
Heat shock protein HSP 90-beta	0	1	0	1
Glutamate receptor 2	1	0	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
TAR DNA-binding protein 43	1	0	0	1
Protein mono-ADP-ribosyltransferase PARP15	0	1	0	1
Leucine-rich repeat serine/threonine-protein kinase 2	0	2	0	2
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
Purine nucleoside phosphorylase	0	2	0	2
Hypoxanthine-guanine phosphoribosyltransferase	0	0	0	1
Ricin	0	1	0	1
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase	0	0	1	1
Purine nucleoside phosphorylase	0	0	1	2
Shiga toxin subunit A	0	1	0	1
Guanine deaminase	0	0	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, Penicillin Amidohydrolase	0	1	0	1
Chain B, Penicillin Amidohydrolase	0	1	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	1	0	0	1
Chain A, Lysozyme	0	0	1	1
Chain A, Lysozyme	0	0	1	1
Chain A, Lysozyme	0	0	1	1
Chain A, Lysozyme	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
retinoic acid nuclear receptor alpha variant 1	2	0	0	2
retinoid X nuclear receptor alpha	1	0	0	1
cytochrome P450 2D6	1	0	0	1
peroxisome proliferator-activated receptor delta	2	0	0	2
peroxisome proliferator activated receptor gamma	4	0	0	4
vitamin D (1,25- dihydroxyvitamin D3) receptor	1	0	0	1
alpha-galactosidase	1	0	0	1
thyroid hormone receptor beta isoform 2	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	3	0	0	3
Polyphenol oxidase 2	0	0	0	2
Carbonic anhydrase 12	0	1	0	3
Endolysin	0	0	1	1
Carbonic anhydrase 1	0	2	0	4
Carbonic anhydrase 2	0	2	0	4
Carbonic anhydrase 3	0	1	0	3
Gamma-aminobutyric acid receptor subunit alpha-1	0	0	1	1
Sulfotransferase 1A1	0	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	0	0	1	1
Cannabinoid receptor 1	0	1	0	1
Carbonic anhydrase 4	0	1	0	3
Carbonic anhydrase 6	0	2	0	4
Adenosine receptor A1	0	1	0	2
Adenosine receptor A2a	0	1	0	2
Carbonic anhydrase 5A, mitochondrial	0	1	0	3
Carbonic anhydrase 7	0	1	0	3
Gamma-aminobutyric acid receptor subunit beta-2	0	0	1	1
Spike glycoprotein	2	0	0	2
Carbonic anhydrase	0	1	0	1
Beta-carbonic anhydrase 1	0	1	0	1
Carbonic anhydrase 9	0	1	0	3
Carbonic anhydrase	0	1	0	1
Carbonic anhydrase	0	1	0	3
Carbonic anhydrase 3	0	2	0	2
Carbonic anhydrase	0	1	0	3
Carbonic anhydrase 13	0	1	0	1
Carbonic anhydrase 15	0	1	0	3
Carbonic anhydrase 13	0	1	0	2
Carbonic anhydrase 14	0	1	0	3
Carbonic anhydrase 5B, mitochondrial	0	1	0	3
Chain A, 2-oxoglutarate Oxygenase	2	0	0	2
glp-1 receptor, partial	1	0	0	1
thioredoxin reductase	3	0	0	3
GALC protein	1	0	0	1
GLI family zinc finger 3	2	0	0	2
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	2	0	0	2
IDH1	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
thyroid stimulating hormone receptor	2	0	0	2
beta-2 adrenergic receptor	1	0	0	1
Bloom syndrome protein isoform 1	2	0	0	2
lysosomal alpha-glucosidase preproprotein	1	0	0	1
mu-type opioid receptor isoform MOR-1	0	0	1	1
chromobox protein homolog 1	1	0	0	1
geminin	1	0	0	1
Vpr	1	0	0	1
peripheral myelin protein 22	1	0	0	1
5-hydroxytryptamine receptor 2A	0	0	1	1
Cellular tumor antigen p53	2	0	0	2
Neuronal acetylcholine receptor subunit alpha-4	1	0	0	1
Neuronal acetylcholine receptor subunit beta-2	1	0	0	1
Chain X, Thyroid hormone receptor beta-1	0	0	1	1
Chain X, Thyroid hormone receptor beta-1	0	0	1	1
USP1 protein, partial	1	0	0	1
apical membrane antigen 1, AMA1	1	0	0	1
EWS/FLI fusion protein	1	0	0	1
G	1	0	0	1
aryl hydrocarbon receptor	2	0	0	2
v-jun sarcoma virus 17 oncogene homolog (avian)	1	0	0	1
thyroid hormone receptor beta isoform a	1	0	0	1
serine/threonine-protein kinase PLK1	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	1	0	0	1
DNA polymerase eta isoform 1	1	0	0	1
DNA polymerase kappa isoform 1	1	0	0	1
Solute carrier organic anion transporter family member 1A4	0	0	0	1
Nuclear receptor subfamily 1 group I member 2	0	0	1	1
Solute carrier organic anion transporter family member 1A5	0	0	0	1
Rap guanine nucleotide exchange factor 3	1	0	0	1
Interferon beta	1	0	0	1
HLA class I histocompatibility antigen, B alpha chain	1	0	0	1
Transthyretin	0	1	0	2
Thyroid hormone receptor alpha	0	0	1	1
Thyroid hormone receptor beta	0	0	1	1
Proliferating cell nuclear antigen	0	1	0	1
Retinoic acid receptor RXR-alpha	0	0	2	2
UDP-glucuronosyltransferase 1A1	0	1	0	1
Peroxisome proliferator-activated receptor gamma	0	0	2	2
Malate dehydrogenase, mitochondrial	0	1	0	1
Solute carrier organic anion transporter family member 1A2	0	0	0	1
Solute carrier organic anion transporter family member 1A3	0	0	0	1
Solute carrier organic anion transporter family member 4C1	0	1	0	1
Monocarboxylate transporter 8	0	0	0	1
Inositol hexakisphosphate kinase 1	1	0	0	1
Bile acid receptor	0	1	0	1
Solute carrier organic anion transporter family member 1C1	0	0	0	1
Solute carrier organic anion transporter family member 1B1	0	0	0	1
cytochrome P450 2C9, partial	1	0	0	1
Chain A, Trp Rna-binding Attenuation Protein	0	0	1	1
Chain K, Trp Rna-binding Attenuation Protein	0	0	1	1
Chain B, tryptophanyl-tRNA synthetase	0	0	1	1
Chain C, Tryptophanyl-tRNA synthetase II	0	0	1	1
phosphopantetheinyl transferase	1	0	0	1
GLS protein	1	0	0	1
Microtubule-associated protein tau	1	0	0	1
thioredoxin glutathione reductase	1	0	0	1
thyroid stimulating hormone receptor	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
arylsulfatase A	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
flap endonuclease 1	1	0	0	1
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
DNA polymerase iota isoform a (long)	1	0	0	1
M-phase phosphoprotein 8	1	0	0	1
Dihydrofolate reductase	0	2	0	2
Plasma kallikrein	0	0	0	2
Myeloperoxidase	0	1	0	1
Alkaline phosphatase, tissue-nonspecific isozyme	0	1	0	1
Stromelysin-1	0	1	0	1
Intestinal-type alkaline phosphatase	0	1	0	1
Indoleamine 2,3-dioxygenase 1	0	1	0	2
Substance-P receptor	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	0	0	2
Carbonic anhydrase	0	0	0	2
Tryptophan 2,3-dioxygenase	0	1	0	2
Carbonic anhydrase	0	0	0	2
Glutamate receptor ionotropic, NMDA 2A	0	0	0	2
Glutamate receptor ionotropic, NMDA 2B	0	0	0	2
Glutamate receptor ionotropic, NMDA 2C	0	0	0	2
Large neutral amino acids transporter small subunit 1	0	2	0	2
SLC16A10 protein	0	0	0	2
Uracil nucleotide/cysteinyl leukotriene receptor	0	1	0	1
Carbonic anhydrase-like protein, putative	0	0	0	2
Tryprostatin B synthase	0	0	0	1
Carbonic anhydrase	0	0	0	2
Glutamate receptor ionotropic, NMDA 2D	0	0	0	2
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase	0	0	1	1
Carbonic anhydrase	0	0	0	2
Glutamate receptor ionotropic, NMDA 3B	0	0	0	2
Monocarboxylate transporter 10	0	0	0	2
Glutamate receptor ionotropic, NMDA 3A	0	0	0	2
Phospholipase A-2-activating protein	0	1	0	1
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, CHORISMATE MUTASE	0	1	0	1
Chain A, TYROSYL-tRNA SYNTHETASE	0	0	1	1
Tubulin--tyrosine ligase	0	1	0	1
Taste receptor type 2 member 14	0	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(2)

Research Excerpts

Overview

Context

Research

Studies (6)

Protein Targets (224)

Pycnodysostosis

Synonyms(2)

Research Excerpts

Overview

Context

Research

Studies (6)

Drugs Studied (11)

Protein Targets (224)