Chondrodysplasia Punctata, Rhizomelic

An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)

Synonym
Chondrodysplasia Punctata, Rhizomelic Form
Rhizomelic Chondrodysplasia Punctata
Chondrodysplasia Punctata, Rhizomelic

Excerpt	Reference
"Rhizomelic chondrodysplasia punctata is a member of genetic peroxisomal disorders."	( Alkan, A; Aslan, M; Kutlu, R; Sarac, K; Sigirci, A; Yakinci, C, 2003)
"Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities."	( Baes, M; Brites, P; Carmeliet, P; Dewerchin, M; Duran, M; Everts, V; Evrard, P; Gressens, P; Mooyer, PA; Motley, AM; Ploegaert, I; Schoonjans, L; Wanders, RJ; Waterham, HR, 2003)
"Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones."	( Braverman, N; Girisha, KM; Gupta, N; Kabra, M; Maeda, M; Moser, A; Phadke, SR; Puri, RD; Steinberg, S; Verma, IC; Vidal, E, 2010)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	1 (3.57)	23.3326
1990's	7 (25.00)	12.5806
2000's	8 (28.57)	18.1394
2010's	8 (28.57)	28.8240
2020's	4 (14.29)	9.53

Drug	Relationship Strength	Studies
choline	low	1
creatine	low	1
dihydroxyacetone phosphate	low	1
pipecolic acid	low	1
phosphorylethanolamine	low	1
gentamicin	low	1
batyl alcohol	low	2
aspartic acid	low	1
adenosine diphosphate	low	1
tyrosine	low	1
leucine	low	1
phenylalanine	low	1
histidine	low	1
vinyl ether	low	1
malondialdehyde	low	1
phytanic acid	low	9
glutamic acid	low	1
n-acetylaspartic acid	low	1
coenzyme a	low	1
antibiotic g 418	low	1
1-((3,5-dichloro)-2,6-dihydroxy-4-methoxyphenyl)-1-hexanone	low	1
pristanic acid	low	1
phytol	low	2
phytanoyl-coenzyme a	low	1
arachidonic acid	low	1
flavin-adenine dinucleotide	low	1
myelin basic protein	low	1
oxadiazoles	low	1
ptc 124	low	1
eye	low	2

Protein Targets (420)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, Heat Shock Protein 90	0	0	1	1
Chain A, GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE	0	0	1	1
Chain B, GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE	0	0	1	1
Chain A, EOSINOPHIL-DERIVED NEUROTOXIN	0	1	0	1
Chain A, EOSINOPHIL-DERIVED NEUROTOXIN	0	1	0	1
Chain A, EOSINOPHIL-DERIVED NEUROTOXIN	0	1	0	1
Chain A, Myosin Ie Heavy Chain	0	0	1	1
Chain A, Preprotein translocase secA	0	0	1	1
Chain A, Ribonuclease pancreatic	0	1	0	1
Chain A, Ribonuclease pancreatic	0	1	0	1
Chain A, Ribonuclease pancreatic	0	1	0	1
Chain A, Ribonuclease pancreatic	0	1	0	1
Chain A, Ribonuclease pancreatic	0	1	0	1
Chain A, Phosphoribosylformylglycinamidine synthase	0	1	0	1
Chain A, nucleoside diphosphate kinase A	0	0	1	1
Chain B, nucleoside diphosphate kinase A	0	0	1	1
Chain D, DNA polymerase III subunit gamma	0	0	1	1
Chain D, DNA polymerase III subunit gamma	0	0	1	1
Chain A [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3	0	0	1	1
Chain A [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 3	0	0	1	1
Chain A, Kinesin-like protein KIF11	0	1	0	1
regulator of G-protein signaling 4	2	0	0	2
HPr kinase/phosphorylase	0	0	1	1
Mitogen-activated protein kinase kinase kinase 7	0	0	1	1
ATP-dependent molecular chaperone HSP82	0	0	0	1
Heat shock protein HSP 90-alpha	0	1	1	3
Heat shock protein HSP 90-beta	0	1	1	3
2-dehydropantoate 2-reductase	0	1	1	2
Heat shock 70 kDa protein 1A	0	1	1	2
Endoplasmic reticulum chaperone BiP	0	0	1	1
Heat shock cognate 71 kDa protein	0	0	1	1
Pyruvate kinase PKM	0	0	0	1
Pyruvate kinase PKLR	0	0	0	1
Endoplasmin	0	0	0	1
Heat shock cognate 71 kDa protein	0	0	1	1
5'-nucleotidase	0	2	0	2
Mu-type opioid receptor	0	0	1	1
Delta-type opioid receptor	0	0	1	1
Kappa-type opioid receptor	0	0	1	1
Endoplasmin	0	1	1	2
P2Y purinoceptor 2	0	0	1	1
Phosphatidylinositol 4-kinase alpha	0	2	0	2
P2X purinoceptor 1	0	0	1	1
P2Y purinoceptor 1	0	0	1	1
P2Y purinoceptor 1	0	0	1	1
P2X purinoceptor 1	0	0	1	1
P2X purinoceptor 4	0	0	1	1
P2X purinoceptor 5	0	0	1	1
P2X purinoceptor 6	0	0	1	1
P2X purinoceptor 3	0	0	1	1
Inositol monophosphatase 1	1	0	0	1
Heat shock protein 75 kDa, mitochondrial	0	1	0	1
P2Y purinoceptor 6	0	0	1	1
Phosphatidylinositol 4-kinase type 2-beta	0	2	0	2
P2Y purinoceptor 11	0	0	1	1
Phosphatidylinositol 4-kinase type 2-alpha	0	2	0	2
P2Y purinoceptor 12	0	0	1	1
Sensor protein kinase WalK	0	1	0	1
Phosphatidylinositol 4-kinase beta	0	2	0	2
P2X purinoceptor 2	0	0	1	1
30S ribosomal protein S6	0	1	0	1
30S ribosomal protein S7	0	1	0	1
50S ribosomal protein L15	0	1	0	1
50S ribosomal protein L10	0	1	0	1
50S ribosomal protein L11	0	1	0	1
50S ribosomal protein L7/L12	0	1	0	1
50S ribosomal protein L19	0	1	0	1
50S ribosomal protein L1	0	1	0	1
50S ribosomal protein L20	0	1	0	1
50S ribosomal protein L27	0	1	0	1
50S ribosomal protein L28	0	1	0	1
50S ribosomal protein L29	0	1	0	1
50S ribosomal protein L31	0	1	0	1
50S ribosomal protein L31 type B	0	1	0	1
50S ribosomal protein L32	0	1	0	1
50S ribosomal protein L33	0	1	0	1
50S ribosomal protein L34	0	1	0	1
50S ribosomal protein L35	0	1	0	1
50S ribosomal protein L36	0	1	0	1
30S ribosomal protein S10	0	1	0	1
30S ribosomal protein S11	0	1	0	1
30S ribosomal protein S12	0	1	0	1
30S ribosomal protein S13	0	1	0	1
30S ribosomal protein S16	0	1	0	1
30S ribosomal protein S18	0	1	0	1
30S ribosomal protein S19	0	1	0	1
30S ribosomal protein S20	0	1	0	1
30S ribosomal protein S2	0	1	0	1
30S ribosomal protein S3	0	1	0	1
30S ribosomal protein S4	0	1	0	1
30S ribosomal protein S5	0	1	0	1
30S ribosomal protein S8	0	1	0	1
30S ribosomal protein S9	0	1	0	1
50S ribosomal protein L13	0	1	0	1
50S ribosomal protein L14	0	1	0	1
50S ribosomal protein L16	0	1	0	1
50S ribosomal protein L23	0	1	0	1
30S ribosomal protein S15	0	1	0	1
50S ribosomal protein L17	0	1	0	1
50S ribosomal protein L21	0	1	0	1
50S ribosomal protein L30	0	1	0	1
50S ribosomal protein L6	0	1	0	1
30S ribosomal protein S14	0	1	0	1
30S ribosomal protein S17	0	1	0	1
30S ribosomal protein S1	0	1	0	1
50S ribosomal protein L18	0	1	0	1
50S ribosomal protein L2	0	1	0	1
50S ribosomal protein L3	0	1	0	1
50S ribosomal protein L24	0	1	0	1
50S ribosomal protein L4	0	1	0	1
50S ribosomal protein L22	0	1	0	1
50S ribosomal protein L5	0	1	0	1
30S ribosomal protein S21	0	1	0	1
50S ribosomal protein L25	0	1	0	1
50S ribosomal protein L36 2	0	1	0	1
Chain A, ADIPOCYTE LIPID-BINDING PROTEIN	0	0	1	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	3	0	0	3
Chain A, SERUM ALBUMIN	0	0	1	1
Chain A, SERUM ALBUMIN	0	0	1	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	2	0	0	2
Chain A, Beta-lactamase	1	0	0	1
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
Chain A, 2-oxoglutarate Oxygenase	1	0	0	1
Chain A, ATP-DEPENDENT DNA HELICASE Q1	1	0	0	1
Chain A, Cruzipain	1	0	0	1
15-lipoxygenase, partial	1	0	0	1
phosphopantetheinyl transferase	4	0	0	4
USP1 protein, partial	1	0	0	1
TDP1 protein	2	0	0	2
Microtubule-associated protein tau	1	0	0	1
thioredoxin glutathione reductase	1	0	0	1
aldehyde dehydrogenase 1 family, member A1	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	5	0	0	5
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
Bloom syndrome protein isoform 1	3	0	0	3
cellular tumor antigen p53 isoform a	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
vitamin D3 receptor isoform VDRA	2	0	0	2
ubiquitin carboxyl-terminal hydrolase 2 isoform a	2	0	0	2
nuclear receptor ROR-gamma isoform 1	2	0	0	2
lethal(3)malignant brain tumor-like protein 1 isoform I	1	0	0	1
DNA polymerase kappa isoform 1	3	0	0	3
cytochrome P450 3A4 isoform 1	2	0	0	2
histone acetyltransferase KAT2A isoform 1	3	0	0	3
DNA dC->dU-editing enzyme APOBEC-3G isoform 1	1	0	0	1
caspase-1 isoform alpha precursor	1	0	0	1
lamin isoform A-delta10	2	0	0	2
Fatty-acid amide hydrolase 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	2	0	0	2
Polyunsaturated fatty acid lipoxygenase ALOX15B	1	0	0	1
Prostaglandin G/H synthase 1	0	0	0	1
Trypsin	0	1	0	1
Coagulation factor VII	0	1	0	1
60 kDa chaperonin	0	1	0	1
60 kDa heat shock protein, mitochondrial	0	1	0	1
Aromatase	0	1	0	1
Tissue factor	0	1	0	1
Fatty acid-binding protein, adipocyte	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-1	2	0	0	2
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
Gamma-aminobutyric acid receptor subunit gamma-1	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-2	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-4	2	0	0	2
Gamma-aminobutyric acid receptor subunit gamma-3	2	0	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	2	0	0	2
Prostaglandin G/H synthase 2	0	0	1	2
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Histamine H2 receptor	1	0	0	1
10 kDa heat shock protein, mitochondrial	0	1	0	1
Calmodulin	0	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
Disintegrin and metalloproteinase domain-containing protein 17	2	0	0	2
Prostaglandin G/H synthase 2	0	0	0	1
Solute carrier organic anion transporter family member 2A1	0	0	0	1
Fatty acid-binding protein 5	0	1	0	1
Fatty acid-binding protein 5	0	0	1	1
Thiosulfate sulfurtransferase	0	1	0	1
Lanosterol 14-alpha demethylase	0	1	0	1
60 kDa chaperonin	0	1	0	1
10 kDa chaperonin	0	1	0	1
GABA theta subunit	2	0	0	2
Gamma-aminobutyric acid receptor subunit epsilon	2	0	0	2
Solute carrier organic anion transporter family member 1B3	0	2	0	2
Cytosolic phospholipase A2 gamma	0	1	0	1
Transient receptor potential cation channel subfamily V member 2	0	1	0	1
Solute carrier organic anion transporter family member 1B1	0	2	0	2
Chain A, Ferritin light chain	1	0	0	1
arylsulfatase A	1	0	0	1
cytochrome P450 2C19 precursor	1	0	0	1
lethal factor (plasmid)	1	0	0	1
Metabotropic glutamate receptor 6	0	1	2	4
Excitatory amino acid transporter 4	0	2	0	2
Glutamate transporter homolog	0	0	1	1
Carbonic anhydrase 1	0	0	0	6
Carbonic anhydrase 2	0	0	0	6
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	0	1	0	1
5-hydroxytryptamine receptor 1D	0	0	0	2
Glutamate receptor ionotropic, NMDA 1	0	3	1	7
Excitatory amino acid transporter 1	0	3	0	4
Excitatory amino acid transporter 2	0	3	0	4
Excitatory amino acid transporter 3	0	3	0	4
Glutamate receptor ionotropic, NMDA 2A	0	3	1	7
Glutamate receptor ionotropic, NMDA 2B	0	3	1	7
Glutamate receptor ionotropic, NMDA 2C	0	3	1	7
Metabotropic glutamate receptor 1	0	1	2	4
Metabotropic glutamate receptor 2	0	1	2	4
Carbonic anhydrase-like protein, putative	0	0	0	5
Glutamate receptor ionotropic, NMDA 2D	0	3	1	7
Glutamate receptor ionotropic, NMDA 3B	0	3	1	7
Carbonic anhydrase 4	0	0	0	2
Glutamate receptor ionotropic, NMDA 3A	0	3	1	7
AR protein	3	0	0	3
glucocorticoid receptor [Homo sapiens]	2	0	0	2
estrogen nuclear receptor alpha	5	0	0	5
67.9K protein	2	0	0	2
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	2	0	0	2
peripheral myelin protein 22	2	0	0	2
Spike glycoprotein	1	0	0	1
Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Acetylcholinesterase	0	0	1	1
Chain A, Putative Glycine Betaine-binding Abc Transporter Protein	0	0	1	1
Chain A, PUTATIVE GLYCINE BETAINE-BINDING ABC TRANSPORTER PROTEIN	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Glycine betaine/carnitine/choline-binding protein	0	0	1	1
Chain A, Choline-binding protein	0	0	1	1
muscarinic acetylcholine receptor M1	1	0	0	1
Solute carrier family 22 member 1	0	1	0	2
Solute carrier family 22 member 2	0	0	0	1
Solute carrier family 22 member 1	0	0	0	1
Solute carrier family 22 member 2	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-3	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-4	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-2	0	1	0	1
Neuronal acetylcholine receptor subunit beta-2	0	1	0	1
Neuronal acetylcholine receptor subunit beta-3	0	1	0	1
Neuronal acetylcholine receptor subunit beta-4	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-5	0	1	0	1
Acetylcholinesterase	0	1	0	1
Sodium- and chloride-dependent creatine transporter 1	0	1	0	1
Choline O-acetyltransferase	0	0	0	1
Neuronal acetylcholine receptor subunit alpha-6	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-9	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-7	0	1	0	1
Solute carrier family 22 member 1	0	1	0	2
High affinity choline transporter 1	0	1	0	1
Neuronal acetylcholine receptor subunit alpha-10	0	1	0	1
Solute carrier family 22 member 2	0	1	0	2
ATP-dependent phosphofructokinase	1	0	0	1
Choline O-acetyltransferase	0	1	0	1
Histone acetyltransferase p300	0	1	0	1
Histone acetyltransferase KAT2B	0	1	0	1
Histone acetyltransferase KAT5	0	1	0	1
N-alpha-acetyltransferase 50	0	0	1	1
Sodium- and chloride-dependent creatine transporter 1	0	1	0	1
Proton-coupled amino acid transporter 1	0	2	0	3
Chain A, ALDOLASE	0	0	1	1
Chain A, GLUTAMATE RECEPTOR SUBUNIT 2	0	1	0	1
Chain A, Glutamate Receptor Subunit 2	0	1	0	1
Chain B, Glutamate Receptor Subunit 2	0	1	0	1
Chain A, Slr1257 protein	0	0	1	1
Chain A, Glucosamine--fructose-6-phosphate aminotransferase [isomerizing]	0	1	0	1
glp-1 receptor, partial	1	0	0	1
thioredoxin reductase	1	0	0	1
GLS protein	1	0	0	1
beta-2 adrenergic receptor	1	0	0	1
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	2	0	0	2
Metabotropic glutamate receptor 8	0	2	0	2
Glutamate receptor ionotropic, NMDA 2D	0	1	0	1
Glutamate receptor ionotropic, NMDA 3B	0	1	0	1
Glutathione reductase, mitochondrial	0	2	0	2
Bifunctional aspartokinase/homoserine dehydrogenase 1	0	1	0	1
Prothrombin	0	0	1	1
Integrin beta-3	0	0	1	1
Integrin alpha-IIb	0	0	1	1
ATP-citrate synthase	0	1	0	1
Glutamate receptor 1	0	2	1	3
Glutamate receptor 2	1	2	1	4
Glutamate receptor 3	0	2	1	3
Glutamate receptor 4	0	2	1	3
Glutamate receptor ionotropic, kainate 1	0	2	1	3
Metabotropic glutamate receptor 1	0	1	1	2
Metabotropic glutamate receptor 2	0	0	1	1
Metabotropic glutamate receptor 3	0	0	1	1
Metabotropic glutamate receptor 4	0	1	1	2
Metabotropic glutamate receptor 5	0	0	1	1
Metabotropic glutamate receptor 6	0	0	1	1
Metabotropic glutamate receptor 7	0	0	1	1
Glutamate receptor ionotropic, kainate 1	0	1	1	2
Metabotropic glutamate receptor 5	0	1	1	3
Glutamate receptor ionotropic, kainate 2	0	2	1	3
Glutamate receptor 1	0	2	1	3
Glutamate receptor 2	0	2	1	3
Glutamate receptor 3	0	1	1	2
Glutamate receptor ionotropic, kainate 3	0	2	0	2
Metabotropic glutamate receptor 8	0	0	1	1
Glutamate receptor 4	0	2	1	3
Excitatory amino acid transporter 3	0	0	0	1
Glutamate racemase	0	0	0	1
Metabotropic glutamate receptor 8	0	1	1	2
Fatty-acid amide hydrolase 1	0	1	0	1
Glutamate receptor ionotropic, kainate 4	0	2	0	2
Glutamate carboxypeptidase 2	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	1	0	1
Glutamate receptor ionotropic, kainate 2	0	1	1	2
Glutamate receptor ionotropic, kainate 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 2B	0	1	0	1
Metabotropic glutamate receptor 7	0	1	1	3
Metabotropic glutamate receptor 3	0	1	1	3
Metabotropic glutamate receptor 4	0	1	1	3
Glutamate receptor ionotropic, NMDA 2C	0	1	0	1
Glutamate receptor ionotropic, kainate 5	0	1	0	1
Glutamate receptor ionotropic, kainate 5	0	2	0	2
Glutamate racemase	0	0	0	1
Prolyl 4-hydroxylase	0	1	0	1
Glutamate receptor ionotropic, NMDA 3A	0	1	0	1
Alpha-ketoglutarate-dependent dioxygenase FTO	0	1	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
flap endonuclease 1	1	0	0	1
Carbonic anhydrase 12	0	0	0	3
Plasma kallikrein	0	0	0	3
Carbonic anhydrase 3	0	0	0	3
Histidine-binding periplasmic protein	0	0	1	1
Carbonic anhydrase 4	0	0	0	3
Carbonic anhydrase 6	0	0	0	3
Adenosine receptor A1	0	0	0	3
Adenosine receptor A2a	0	0	0	3
Carbonic anhydrase 5A, mitochondrial	0	0	0	3
Carbonic anhydrase	0	0	0	3
Carbonic anhydrase 7	0	0	0	3
Carbonic anhydrase	0	0	0	3
Large neutral amino acids transporter small subunit 1	0	4	0	5
Glutaminyl-peptide cyclotransferase	0	1	0	1
Carbonic anhydrase 9	0	0	0	3
Carbonic anhydrase	0	0	0	3
Carbonic anhydrase	0	0	0	3
Carbonic anhydrase	0	0	0	3
Carbonic anhydrase	0	0	0	3
Carbonic anhydrase 13	0	0	0	2
Carbonic anhydrase 15	0	0	0	3
Carbonic anhydrase 13	0	0	0	2
Carbonic anhydrase 14	0	0	0	3
Carbonic anhydrase 5B, mitochondrial	0	0	0	3
Chain A, AMINOPEPTIDASE	0	2	0	2
Chain A, AMINOPEPTIDASE	0	2	0	2
Chain A, Leucine Aminopeptidase	0	1	0	1
Alkaline phosphatase, tissue-nonspecific isozyme	0	2	0	2
Intestinal-type alkaline phosphatase	0	2	0	2
Phospholipase A-2-activating protein	0	2	0	2
nuclear factor erythroid 2-related factor 2 isoform 2	2	0	0	2
transcriptional regulator ERG isoform 3	1	0	0	1
geminin	1	0	0	1
Solute carrier family 22 member 20	0	1	0	1
Solute carrier family 22 member 6	0	1	0	1
Rap guanine nucleotide exchange factor 4	1	0	0	1
Luciferase	2	0	0	2
thyroid hormone receptor beta isoform a	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 1	2	0	0	2
Voltage-dependent calcium channel subunit alpha-2/delta-1	0	1	0	1
Alkaline phosphatase, tissue-nonspecific isozyme	0	1	0	1
Intestinal-type alkaline phosphatase	0	1	0	1
E3 ubiquitin-protein ligase XIAP	0	1	0	1
SLC16A10 protein	0	0	0	2
Large neutral amino acids transporter small subunit 1	0	1	0	1
Monocarboxylate transporter 10	0	0	0	2
Fatty acid-binding protein, liver	0	1	0	1
Fatty acid-binding protein, liver	0	1	0	1
Peroxisomal sarcosine oxidase	0	0	0	1
RAR-related orphan receptor gamma	1	0	0	1
SMAD family member 2	1	0	0	1
SMAD family member 3	1	0	0	1
GLI family zinc finger 3	1	0	0	1
estrogen receptor 2 (ER beta)	1	0	0	1
nuclear receptor subfamily 1, group I, member 3	1	0	0	1
cytochrome P450 family 3 subfamily A polypeptide 4	1	0	0	1
EWS/FLI fusion protein	1	0	0	1
retinoic acid nuclear receptor alpha variant 1	1	0	0	1
retinoid X nuclear receptor alpha	1	0	0	1
estrogen-related nuclear receptor alpha	1	0	0	1
pregnane X nuclear receptor	1	0	0	1
G	1	0	0	1
cytochrome P450 2D6	1	0	0	1
peroxisome proliferator-activated receptor delta	1	0	0	1
peroxisome proliferator activated receptor gamma	1	0	0	1
aryl hydrocarbon receptor	1	0	0	1
nuclear receptor subfamily 1, group I, member 2	1	0	0	1
thyroid hormone receptor beta isoform 2	1	0	0	1
histone deacetylase 9 isoform 3	1	0	0	1
Voltage-dependent calcium channel gamma-2 subunit	1	0	0	1
Interferon beta	1	0	0	1
HLA class I histocompatibility antigen, B alpha chain	1	0	0	1
Cellular tumor antigen p53	1	0	0	1
Flavin reductase (NADPH)	0	0	1	1
Inositol hexakisphosphate kinase 1	1	0	0	1
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
cytochrome P450 2C9, partial	1	0	0	1
Chain A, CHORISMATE MUTASE	0	1	0	1
Chain A, TYROSYL-tRNA SYNTHETASE	0	0	1	1
Polyphenol oxidase 2	0	0	0	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]

Chondrodysplasia Punctata, Rhizomelic

Synonyms(3)

Research Excerpts

Overview

Research

Studies (28)

Protein Targets (420)

Chondrodysplasia Punctata, Rhizomelic

Synonyms(3)

Research Excerpts

Overview

Research

Studies (28)

Drugs Studied (35)

Protein Targets (420)