Page last updated: 2024-09-28

Acrodysplasia V

Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).

Synonyms(9)

Synonym
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type 2
Langer-Giedion Syndrome
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal Syndrome, Type II
Acrodysplasia V
Giedion-Langer Syndrome
TRPSII
Trichorhinophalangeal Syndrome Type II

Research

Studies (55)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's4 (7.27)12.5806
2000's4 (7.27)18.1394
2010's38 (69.09)28.8240
2020's9 (16.36)9.53
DrugIndicatedRelationship StrengthStudiesTrials
salicylic acid0low10
clodronic acid0low10
propiconazole0low10
phenylephrine hydrochloride0medium460
heparitin sulfate0low10

Protein Targets (122)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Type IV secretion-like conjugative transfer relaxase protein TraI 0101
72 kDa type IV collagenase0101
Stromelysin-10112
Matrix metalloproteinase-90101
Macrophage metalloelastase0101
Chain A, 2-oxoglutarate Oxygenase2002
glp-1 receptor, partial2002
thioredoxin reductase2002
RAR-related orphan receptor gamma2002
GALC protein1001
TDP1 protein2002
GLI family zinc finger 32002
AR protein2002
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
glucocorticoid receptor [Homo sapiens]2002
estrogen-related nuclear receptor alpha2002
estrogen nuclear receptor alpha3003
peroxisome proliferator activated receptor gamma2002
IDH11001
euchromatic histone-lysine N-methyltransferase 21001
thyroid stimulating hormone receptor1001
beta-2 adrenergic receptor1001
Bloom syndrome protein isoform 11001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
chromobox protein homolog 12002
nuclear factor erythroid 2-related factor 2 isoform 12002
geminin2002
Vpr1001
peripheral myelin protein 221001
lamin isoform A-delta101001
5-hydroxytryptamine receptor 2A0011
Cellular tumor antigen p532002
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Spike glycoprotein1001
Chain A, Beta-lactamase1001
Chain A, Ferritin light chain1001
pregnane X receptor1001
phosphopantetheinyl transferase1001
SMAD family member 21001
SMAD family member 31001
estrogen receptor 2 (ER beta)1001
nuclear receptor subfamily 1, group I, member 31001
progesterone receptor1001
nonstructural protein 11001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha2002
farnesoid X nuclear receptor1001
pregnane X nuclear receptor1001
peroxisome proliferator-activated receptor delta1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
vitamin D3 receptor isoform VDRA1001
thyroid hormone receptor beta isoform a1001
thyroid hormone receptor beta isoform 21001
heat shock protein HSP 90-alpha isoform 20001
DNA polymerase iota isoform a (long)1001
nuclear receptor ROR-gamma isoform 11001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Voltage-dependent calcium channel gamma-2 subunit1001
Cytochrome P450 3A40101
Glutamate receptor 21001
Histamine H2 receptor1001
Guanine nucleotide-binding protein G1001
TAR DNA-binding protein 431001
ATPase family AAA domain-containing protein 51001
Ataxin-21001
heat shock protein 90, putative0001
chaperonin-containing TCP-1 beta subunit homolog1001
aldehyde dehydrogenase 1 family, member A11001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
survival motor neuron protein isoform d1001
histone acetyltransferase KAT2A isoform 11001
Estrogen receptor beta0001
Inhibitor of nuclear factor kappa-B kinase subunit beta0001
Solute carrier family 22 member 60101
Polyphenol oxidase 20102
Carbonic anhydrase 120101
5'-AMP-activated protein kinase subunit beta-20001
Bile salt export pump0101
Bile salt export pump0101
Carbonic anhydrase 10202
Carbonic anhydrase 20202
Albumin0101
Polymerase acidic protein0011
Carbonic anhydrase 30101
Tyrosine-protein phosphatase YopH0101
High mobility group protein B10011
Aldo-keto reductase family 1 member B10101
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Carbonic anhydrase 40101
Prostaglandin G/H synthase 10101
Carbonic anhydrase 60101
Cystathionine gamma-lyase0101
Carbonic anhydrase 5A, mitochondrial0101
Prostaglandin G/H synthase 20101
Carbonic anhydrase 70101
5'-AMP-activated protein kinase subunit gamma-10001
5'-AMP-activated protein kinase catalytic subunit alpha-20001
Xanthine dehydrogenase/oxidase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10001
Carbonic anhydrase 90101
Carbonic anhydrase0101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Nicotinate phosphoribosyltransferase0101
Solute carrier family 22 member 200101
Solute carrier family 22 member 80101
Solute carrier family 22 member 60101
Ubiquitin-like domain-containing CTD phosphatase 10101
Carbonic anhydrase 150101
Carbonic anhydrase 130101
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
Carbonic anhydrase 140101
Carbonic anhydrase 5B, mitochondrial0101
5'-AMP-activated protein kinase subunit beta-10001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]