Page last updated: 2024-09-27

Acroosteolysis with Osteoporosis and Changes in Skull and Mandible

Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.

Synonyms(5)

Synonym
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible
Arthrodentoosteodysplasia
Osteolysis, Multicentric
Cheney Syndrome
Hajdu-Cheney Syndrome

Research Excerpts

Overview

ExcerptReference
"Hajdu-Cheney syndrome is a rare, autosomal dominant skeletal dysplasia marked by acro-osteolysis of the distal phalanges and severe osteoporosis."( Hwang, S; Kim, OH; Lee, EJ; Lim, SK; Moon, SH; Rhee, Y; Shin, DY, 2011)

Treatment

ExcerptReference
"We describe a case of Hajdu-Cheney syndrome affecting the scaphotrapeziotrapezoid joint presently being treated non-operatively."( Flannery, O; Smith, K, 2014)

Research

Studies (15)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (20.00)18.1394
2010's11 (73.33)28.8240
2020's1 (6.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
alendronate0low20
pamidronate0medium21
prednisolone0low10
trolamine salicylate0low30
zoledronic acid0low20
cyclosporine0low10

Protein Targets (77)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, farnesyl pyrophosphate synthase0101
Geranylgeranyl pyrophosphate synthase0405
Farnesyl pyrophosphate synthase0606
Acetylcholinesterase0101
Hypoxanthine-guanine phosphoribosyltransferase0202
Farnesyl pyrophosphate synthase 0404
Farnesyl pyrophosphate synthase 0202
glucocorticoid receptor [Homo sapiens]2002
geminin1001
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta102002
luciferase0001
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma2002
TDP1 protein1001
GLI family zinc finger 31001
AR protein1001
progesterone receptor1001
cytochrome P450 family 3 subfamily A polypeptide 41001
retinoic acid nuclear receptor alpha variant 11001
estrogen-related nuclear receptor alpha1001
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha1001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
nuclear receptor subfamily 1, group I, member 21001
nuclear factor erythroid 2-related factor 2 isoform 21001
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Voltage-dependent calcium channel gamma-2 subunit1001
Bile salt export pump0202
Interferon beta1001
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor0218
Cellular tumor antigen p531001
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Cytochrome P450 2C9 0101
Glutamine synthetase0011
Androgen receptor0101
Glutamate receptor 21001
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Histamine H1 receptor0011
Prostaglandin G/H synthase 20101
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
Canalicular multispecific organic anion transporter 10202
ATPase family AAA domain-containing protein 51001
Ataxin-21001
retinoid X nuclear receptor alpha1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
Fumarate hydratase1001
EWS/FLI fusion protein1001
polyprotein1001
Butyrophilin subfamily 3 member A10012
Carbonic anhydrase 120101
Carbonic anhydrase 10101
Carbonic anhydrase 20101
72 kDa type IV collagenase0101
Matrix metalloproteinase-90101
Neutrophil collagenase0101
Farnesyl diphosphate synthase0101
Matrix metalloproteinase-140101
Geranylgeranyl pyrophosphate synthase0202
Carbonic anhydrase 90101
H0101
Carbonic anhydrase 140101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]