MCID: ACR044
MIFTS: 29

Acroosteolysis Dominant Type

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Acroosteolysis Dominant Type

Summaries for Acroosteolysis Dominant Type

NIH Rare Diseases : 54 Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include  osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene. The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.

MalaCards based summary : Acroosteolysis Dominant Type, also known as hajdu-cheney syndrome, is related to hajdu-cheney syndrome and acroosteolysis. The drugs Zoledronic Acid and Pamidronate have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertelorism and osteopenia

Related Diseases for Acroosteolysis Dominant Type

Diseases in the Acroosteolysis family:

Acroosteolysis Dominant Type

Diseases related to Acroosteolysis Dominant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 hajdu-cheney syndrome 11.4
2 acroosteolysis 10.9
3 osteoporosis 10.8
4 bone mineral density quantitative trait locus 15 10.5
5 syringomyelia 10.5
6 kidney disease 10.5
7 melnick-needles syndrome 10.5
8 lateral meningocele syndrome 10.4
9 bone mineral density quantitative trait locus 8 10.4
10 hydrocephalus 10.4
11 cystic kidney disease 10.4
12 pulmonary hemosiderosis 10.3
13 glaucoma 3, primary congenital, a 10.3
14 premature ovarian failure 1 10.3
15 meningioma, familial 10.3
16 diabetes mellitus, ketosis-prone 10.3
17 arthritis 10.3
18 brain meningioma 10.3
19 end stage renal failure 10.3
20 glomerulonephritis 10.3
21 osteoarthritis 10.3
22 osteomyelitis 10.3
23 meningocele 10.3
24 spinal meningioma 10.3
25 hemosiderosis 10.3
26 ventricular septal defect 10.3
27 squamous cell carcinoma 10.3
28 enthesopathy 10.3
29 secretory meningioma 10.3
30 periodontitis 10.3
31 neuropathy 10.3
32 polycystic kidney disease 10.3
33 arachnoid cysts 10.3
34 congenital hydrocephalus 10.3
35 growth hormone deficiency 10.3
36 syringohydromyelia 10.3

Graphical network of the top 20 diseases related to Acroosteolysis Dominant Type:



Diseases related to Acroosteolysis Dominant Type

Symptoms & Phenotypes for Acroosteolysis Dominant Type

Human phenotypes related to Acroosteolysis Dominant Type:

33 (show top 50) (show all 80)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 hallmark (90%) HP:0000316
2 osteopenia 33 hallmark (90%) HP:0000938
3 skeletal dysplasia 33 hallmark (90%) HP:0002652
4 thick eyebrow 33 hallmark (90%) HP:0000574
5 short stature 33 hallmark (90%) HP:0004322
6 osteoporosis 33 hallmark (90%) HP:0000939
7 long philtrum 33 hallmark (90%) HP:0000343
8 micrognathia 33 hallmark (90%) HP:0000347
9 short toe 33 hallmark (90%) HP:0001831
10 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
11 brachydactyly 33 hallmark (90%) HP:0001156
12 periodontitis 33 hallmark (90%) HP:0000704
13 osteolysis 33 hallmark (90%) HP:0002797
14 short distal phalanx of finger 33 hallmark (90%) HP:0009882
15 decreased skull ossification 33 hallmark (90%) HP:0004331
16 partial absence of toe 33 hallmark (90%) HP:0011305
17 macrocephaly 33 frequent (33%) HP:0000256
18 short neck 33 frequent (33%) HP:0000470
19 scoliosis 33 frequent (33%) HP:0002650
20 coarse facial features 33 frequent (33%) HP:0000280
21 hearing impairment 33 frequent (33%) HP:0000365
22 open bite 33 frequent (33%) HP:0010807
23 anteverted nares 33 frequent (33%) HP:0000463
24 arthralgia 33 frequent (33%) HP:0002829
25 full cheeks 33 frequent (33%) HP:0000293
26 joint hyperflexibility 33 frequent (33%) HP:0005692
27 generalized hirsutism 33 frequent (33%) HP:0002230
28 dolichocephaly 33 frequent (33%) HP:0000268
29 wormian bones 33 frequent (33%) HP:0002645
30 prominent occiput 33 frequent (33%) HP:0000269
31 telecanthus 33 frequent (33%) HP:0000506
32 arnold-chiari malformation 33 frequent (33%) HP:0002308
33 narrow mouth 33 frequent (33%) HP:0000160
34 downturned corners of mouth 33 frequent (33%) HP:0002714
35 platybasia 33 frequent (33%) HP:0002691
36 recurrent fractures 33 frequent (33%) HP:0002757
37 bone pain 33 frequent (33%) HP:0002653
38 thin vermilion border 33 frequent (33%) HP:0000233
39 wide nose 33 frequent (33%) HP:0000445
40 biconcave vertebral bodies 33 frequent (33%) HP:0004586
41 absent frontal sinuses 33 frequent (33%) HP:0002688
42 hypoplastic 5th lumbar vertebrae 33 frequent (33%) HP:0008424
43 abnormal fingernail morphology 33 frequent (33%) HP:0001231
44 low-set ears 33 occasional (7.5%) HP:0000369
45 hydrocephalus 33 occasional (7.5%) HP:0000238
46 failure to thrive 33 occasional (7.5%) HP:0001508
47 kyphosis 33 occasional (7.5%) HP:0002808
48 inguinal hernia 33 occasional (7.5%) HP:0000023
49 cataract 33 occasional (7.5%) HP:0000518
50 splenomegaly 33 occasional (7.5%) HP:0001744

Drugs & Therapeutics for Acroosteolysis Dominant Type

Drugs for Acroosteolysis Dominant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved 118072-93-8 68740
2
Pamidronate Approved 40391-99-9 4674
3 Bone Density Conservation Agents
4 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bisphosphonate Therapy in MONA Spectrum Disorder Completed NCT02823925 Pamidronate or Zoledronate

Search NIH Clinical Center for Acroosteolysis Dominant Type

Genetic Tests for Acroosteolysis Dominant Type

Anatomical Context for Acroosteolysis Dominant Type

MalaCards organs/tissues related to Acroosteolysis Dominant Type:

42
Bone, Kidney, Heart, Skin, B Cells, Spinal Cord, Brain

Publications for Acroosteolysis Dominant Type

Articles related to Acroosteolysis Dominant Type:

(show top 50) (show all 111)
# Title Authors Year
1
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. ( 30767323 )
2019
2
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. ( 30980954 )
2019
3
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. ( 31077240 )
2019
4
Phenotype variability in Hajdu-Cheney syndrome. ( 29698804 )
2019
5
Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis. ( 29940267 )
2018
6
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. ( 30329210 )
2018
7
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. ( 30420927 )
2018
8
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families. ( 30779700 )
2018
9
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. ( 28600213 )
2018
10
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome. ( 28856714 )
2018
11
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. ( 28941602 )
2018
12
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. ( 29103128 )
2018
13
Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis. ( 29545197 )
2018
14
An unusual presentation of intracranial meningioma in Hajdu-Cheney syndrome. ( 29547200 )
2018
15
Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. ( 29566451 )
2018
16
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. ( 29618366 )
2018
17
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. ( 28040705 )
2017
18
Letter to the Editor concerning "Hajdu Cheney syndrome; report of a novel NOTCH2 mutation and treatment with denosumab" by G. Adami et al. Bone 2016;92:150-156. ( 28411109 )
2017
19
Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. ( 28592489 )
2017
20
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. ( 28938420 )
2017
21
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. ( 29176149 )
2017
22
Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature. ( 29242787 )
2017
23
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. ( 26400009 )
2016
24
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. ( 26894198 )
2016
25
Hajdu Cheney Syndrome. ( 27042504 )
2016
26
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. ( 27241678 )
2016
27
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. ( 27312922 )
2016
28
Hajdu-Cheney syndrome - a rare cause of micrognathia. ( 27488012 )
2016
29
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. ( 27592446 )
2016
30
Poster 315 Complications Associated with Hajdu-Cheney Syndrome: A Case Report. ( 27673071 )
2016
31
Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome. ( 27857819 )
2016
32
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. ( 25696021 )
2015
33
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. ( 26184537 )
2015
34
Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome. ( 26198704 )
2015
35
Expert's comment concerning Grand Rounds case entitled "Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome" (T. A. Mattei, A. A. Rehman, A. Issawi, D. R. Fassett). ( 26208937 )
2015
36
Hajdu-cheney syndrome with osteomyelitis of mandible, calcification of falx cerebri and palatal groove. ( 24010868 )
2014
37
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation. ( 24608068 )
2014
38
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. ( 24641753 )
2014
39
Hajdu-Cheney syndrome: a case report with review of literature. ( 25426244 )
2014
40
Hajdu-Cheney syndrome: a review. ( 25491639 )
2014
41
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. ( 23117206 )
2013
42
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. ( 23389697 )
2013
43
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. ( 23401378 )
2013
44
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome. ( 23566664 )
2013
45
Hajdu-Cheney syndrome with ventricular septal defect. ( 23684141 )
2013
46
A case report of anesthesia for a child with Hajdu-Cheney syndrome. ( 23728363 )
2013
47
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. ( 23970057 )
2013
48
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. ( 24265536 )
2013
49
One-bone forearm procedure for Hajdu-Cheney syndrome: a case report. ( 24426971 )
2013
50
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. ( 21712856 )
2012

Variations for Acroosteolysis Dominant Type

Expression for Acroosteolysis Dominant Type

Search GEO for disease gene expression data for Acroosteolysis Dominant Type.

Pathways for Acroosteolysis Dominant Type

GO Terms for Acroosteolysis Dominant Type

Sources for Acroosteolysis Dominant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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