MCID: HJD001
MIFTS: 58

Hajdu-Cheney Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

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Aliases & Descriptions for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 49 10 11 22 23 12 67 36 24 65
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 22 23 67
Arthrodentoosteodysplasia 22 23 67
Cheney Syndrome 22 23 67
Hjcys 22 23 67
Serpentine Fibula Polycystic Kidney Syndrome 45 65
Acroosteolysis Dominant Type 23 65
Sfpks 45 23
 
Hereditary Osteodysplasia with Acro-Osteolysis 23
Cranioskeletal Dysplasia with Acro-Osteolysis 23
Serpentine Fibula-Polycystic Kidney Syndrome 23
Arthro-Dento-Osteo Dysplasia 23
Serpentine Fibula Syndrome 45
Familial Osteodysplasia 23
Hcs 67

Characteristics:

HPO:

61
hajdu-cheney syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 102500
Disease Ontology10 DOID:2736
SNOMED-CT59 27201004, 63122002
UMLS65 C0917715, C0917990, C1838257 C2930971, more

Summaries for Hajdu-Cheney Syndrome

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OMIM:49 Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and... (102500) more...

MalaCards based summary: Hajdu-Cheney Syndrome, also known as acroosteolysis with osteoporosis and changes in skull and mandible, is related to acroosteolysis dominant type and hypotonia-cystinuria syndrome, and has symptoms including intestinal malrotation, osteolytic defects of the phalanges of the hand and large earlobe. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch 2), and among its related pathways are Th2 Differentiation Pathway and Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include kidney, bone and eye, and related mouse phenotypes are vision/eye and normal.

Genetics Home Reference:23 Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones. Loss of bone tissue from the hands and feet (acro-osteolysis) is a characteristic feature of the condition. The fingers and toes are short and broad, and they may become shorter over time as bone at the tips continues to break down. Bone loss in the fingers can interfere with fine motor skills, such as picking up small objects.

UniProtKB/Swiss-Prot:67 Hajdu-Cheney syndrome: A rare skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes.

Wikipedia:68 Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Related Diseases for Hajdu-Cheney Syndrome

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Graphical network of the top 20 diseases related to Hajdu-Cheney Syndrome:



Diseases related to hajdu-cheney syndrome

Symptoms for Hajdu-Cheney Syndrome

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Symptoms by clinical synopsis from OMIM:

102500

Clinical features from OMIM:

102500

HPO human phenotypes related to Hajdu-Cheney Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 intestinal malrotation rare (5%) HP:0002566
2 osteolytic defects of the phalanges of the hand HP:0009771
3 large earlobe HP:0009748
4 cervical instability HP:0008462
5 tall lumbar vertebral bodies HP:0008421
6 premature loss of teeth HP:0006480
7 crowded carpal bones HP:0006180
8 basilar impression HP:0005758
9 elongated sella turcica HP:0005463
10 biconcave vertebral bodies HP:0004586
11 short stature HP:0004322
12 dislocated radial head HP:0003083
13 vertebral compression fractures HP:0002953
14 genu valgum HP:0002857
15 pathologic fracture HP:0002756
16 kyphoscoliosis HP:0002751
17 absent frontal sinuses HP:0002688
18 wormian bones HP:0002645
19 acroosteolysis (feet) HP:0001842
20 short nail HP:0001799
21 abnormality of the cardiac septa HP:0001671
22 patent ductus arteriosus HP:0001643
23 umbilical hernia HP:0001537
24 failure to thrive HP:0001508
25 joint laxity HP:0001388
26 hirsutism HP:0001007
27 osteoporosis HP:0000939
28 osteopenia HP:0000938
29 dental malocclusion HP:0000689
30 synophrys HP:0000664
31 thick eyebrow HP:0000574
32 long eyelashes HP:0000527
33 telecanthus HP:0000506
34 downslanted palpebral fissures HP:0000494
35 short neck HP:0000470
36 anteverted nares HP:0000463
37 wide nose HP:0000445
38 conductive hearing impairment HP:0000405
39 low-set ears HP:0000369
40 micrognathia HP:0000347
41 long philtrum HP:0000343
42 full cheeks HP:0000293
43 epicanthus HP:0000286
44 coarse facial features HP:0000280
45 hydrocephalus HP:0000238
46 high palate HP:0000218
47 renal cyst HP:0000107
48 hypospadias HP:0000047
49 cryptorchidism HP:0000028
50 inguinal hernia HP:0000023

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hajdu-Cheney Syndrome


Cochrane evidence based reviews: hajdu-cheney syndrome

Genetic Tests for Hajdu-Cheney Syndrome

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Genetic tests related to Hajdu-Cheney Syndrome:

id Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome22 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

33
Kidney, Bone, Eye, Heart, Lung, T cells, Myeloid

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

38 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7DLL3, FLNA, JAG1, NOTCH1, NOTCH2, RUNX2
2MP:00028738.5FLNA, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
3MP:00053818.5FLNA, JAG1, NOTCH1, NOTCH2, RBPJ, RUNX2
4MP:00053808.2DLL3, HES7, JAG1, NOTCH1, NOTCH2, NOTCH3
5MP:00107718.2FLNC, JAG1, NOTCH1, NOTCH2, NOTCH3, RBPJ
6MP:00053828.1DLL3, FLNA, FLNB, JAG1, NOTCH1, NOTCH2
7MP:00053898.0DLL3, FLNA, IZUMO1, NOTCH2, NOTCH3, RBPJ
8MP:00053907.6DLL3, FLNA, FLNB, HES7, JAG1, NOTCH1
9MP:00053887.6FLNA, FLNB, FLNC, NOTCH1, NOTCH2, NOTCH3
10MP:00053697.6DLL3, FLNC, JAG1, NOTCH1, NOTCH2, NOTCH3
11MP:00053847.5FLNA, FLNB, JAG1, NOTCH1, NOTCH2, NOTCH3
12MP:00036316.9DLL3, FLNA, FLNB, JAG1, NOTCH1, NOTCH2
13MP:00053856.3FLNA, FLNB, FLNC, JAG1, NOTCH1, NOTCH2
14MP:00107686.2DLL3, FLNA, FLNB, FLNC, HES7, JAG1
15MP:00053785.7DLL3, FLNA, FLNB, FLNC, HES7, JAG1

Publications for Hajdu-Cheney Syndrome

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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. (27013816)
2016
2
The muscle-bone interaction in Turner syndrome. (25659206)
2015
3
Pattern of disease progression in atypical form of pantothenate-kinase-associated neurodegeneration (PKAN) - Prospective study. (25724846)
2015
4
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report. (24594238)
2014
5
Risk Factors and Outcomes for Multidrug-Resistant Gram-Negative Bacteremia in the NICU. (24420803)
2014
6
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. (23122589)
2012
7
Acute aortic dissection in pregnancy in a woman with undiagnosed marfan syndrome. (23304584)
2012
8
Double-J ureteral stenting in nine cats with ureteral obstruction. (22749715)
2012
9
Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. (21602787)
2011
10
The pathophysiology of thyroid eye disease: implications for immunotherapy. (21730841)
2011
11
The effects of MAPK inhibitors on antimycin A-treated Calu-6 lung cancer cells in relation to cell growth, reactive oxygen species, and glutathione. (19714450)
2010
12
Association of angiotensin converting enzyme gene insertion/deletion polymorphism with lung cancer in Turkey. (20303010)
2010
13
Platelet activation in patients with psoriasis: increased plasma levels of platelet-derived microparticles and soluble P-selectin. (19962788)
2010
14
Predictors of mortality and impact of aminoglycosides on outcome in listeriosis in a retrospective cohort study. (19468027)
2009
15
Morphological analysis of corneal opacity in Shiba dog with GM1 gangliosidosis. (18840960)
2008
16
The pedunculopontine nucleus in developmental disorders of the basal ganglia. (18194143)
2008
17
Adhesion molecules (VCAM-1 and ICAM-1) and C-reactive protein in women with history of preeclampsia. (18720045)
2008
18
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. (17517692)
2007
19
The inter-arm blood pressure difference and peripheral vascular disease: cross-sectional study. (17670807)
2007
20
Management of hepatobiliary and pancreatic ascariasis in children of an endemic area. (16328339)
2006
21
Anesthesia management of a child with adrenoleukodystrophy. (16430428)
2006
22
Degradation of spectrin via calpains in the ventral horn after transient spinal cord ischemia in rabbits. (16847592)
2006
23
Insulin-like growth factor-I and insulin are associated with the presence and advancement of adenomatous polyps. (16083703)
2005
24
Modeling amyloid beta-peptide insertion into lipid bilayers. (15189856)
2004
25
Chronic myokymia limited to the eyelid is a benign condition. (15662242)
2004
26
Discrimination, historical loss and enculturation: culturally specific risk and resiliency factors for alcohol abuse among American Indians. (15376814)
2004
27
Delta sleep response to metyrapone in post-traumatic stress disorder. (12799616)
2003
28
Varicella-zoster virus (VZV) mediates a delayed host shutoff independent of open reading frame (ORF) 17 expression. (11928988)
2002
29
Biochemical aspects in autism spectrum disorders: updating the opioid-excess theory and presenting new opportunities for biomedical intervention. (12223079)
2002
30
Lack of association between angiotensin-converting enzyme gene polymorphism and peripheral vascular disease in type 2 diabetic patients in Taiwan. (12419932)
2002
31
Mad-1 is the exclusive JC virus strain present in the human colon, and its transcriptional control region has a deleted 98-base-pair sequence in colon cancer tissues. (11160700)
2001
32
Crusted scabies in a patient of systemic sclerosis. (20877058)
2000
33
A case of antiepiligrin cicatricial pemphigoid successfully treated by plasmapheresis. (10971064)
2000
34
Assessment of cerebral microcirculation in a patient with hypertensive encephalopathy using MR perfusion imaging. (10584788)
1999
35
Prevalence and characterization of novel pANCA, antibodies to the high mobility group non-histone chromosomal proteins HMG1 and HMG2, in systemic rheumatic diseases. (9558172)
1998
36
Endothelial P2-purinoceptors: subtypes and signal transduction. (9131415)
1996
37
Angiographic findings in Tolosa-Hunt syndrome: a case report. (7641128)
1995
38
Acquired immunodeficiency syndrome-associated T-cell lymphoma: evidence for human immunodeficiency virus type 1-associated T-cell transformation. (1373087)
1992
39
Evolution of the mammalian G protein alpha subunit multigene family. (1302014)
1992
40
Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland. (2009949)
1991
41
Relationship of acivicin-induced monocytoid differentiation of human myeloid leukemia cells to acivicin-induced modulation of growth factor, cytokine, and protooncogene mRNA expression. (1997162)
1991
42
Elucidating the structural chemistry of glycosaminoglycan recognition by protein C inhibitor. (2172989)
1990
43
Adjuvant therapy of aspirin and cromoglycate 2% eye drops in vernal conjunctivitis. (2507808)
1989
44
Cervical diastematomyelia: a case report with operative management. (3990933)
1985
45
Myxedema coma. (7065492)
1982
46
Bacteroides fragilis in acute salpingitis. (511341)
1979
47
Aortoesophageal fistula. Late complication after repair of thoracic aortic aneurysm. (702703)
1978
48
Benign chondroblastoma of tibia. (5507062)
1970
49
Phlebotomy therapy in cutaneous porphyria. Effect on iron and trace metals. (5413253)
1970
50
The surgical treatment of dystonia musculorum deformans. (13097210)
1953

Variations for Hajdu-Cheney Syndrome

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Clinvar genetic disease variations for Hajdu-Cheney Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOTCH2NOTCH2, 1-BP DEL, 6272TdeletionPathogenic
2NOTCH2NOTCH2, 1-BP DEL, 6460TdeletionPathogenic
3NOTCH2NM_024408.3(NOTCH2): c.6622C> T (p.Gln2208Ter)single nucleotide variantPathogenicrs387906746GRCh37Chr 1, 120458723: 120458723
4NOTCH2NOTCH2, TYR2373TERsingle nucleotide variantPathogenic
5NOTCH2NM_024408.3(NOTCH2): c.6949C> T (p.Gln2317Ter)single nucleotide variantPathogenicrs387906747GRCh37Chr 1, 120458396: 120458396
6NOTCH2NM_024408.3(NOTCH2): c.6895G> T (p.Glu2299Ter)single nucleotide variantPathogenicrs387906748GRCh37Chr 1, 120458450: 120458450
7NOTCH2NM_024408.3(NOTCH2): c.7165C> T (p.Gln2389Ter)single nucleotide variantPathogenicrs387906749GRCh37Chr 1, 120458180: 120458180

Expression for genes affiliated with Hajdu-Cheney Syndrome

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Search GEO for disease gene expression data for Hajdu-Cheney Syndrome.

Pathways for genes affiliated with Hajdu-Cheney Syndrome

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Pathways related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.5JAG1, NOTCH1, RBPJ
2
Show member pathways
9.5JAG1, NOTCH1, RBPJ
3
Show member pathways
9.3NOTCH1, NOTCH2, NOTCH3, NOTCH4
49.3NOTCH1, NOTCH2, NOTCH3, NOTCH4
59.3NOTCH1, NOTCH2, NOTCH3, NOTCH4
69.3NOTCH1, NOTCH2, NOTCH3, NOTCH4
79.3NOTCH1, NOTCH2, NOTCH3, NOTCH4
8
Show member pathways
9.2JAG1, NOTCH1, NOTCH2, RBPJ
9
Show member pathways
9.2JAG1, NOTCH1, NOTCH2, RBPJ
109.2FLNA, FLNB, FLNC
119.1NOTCH1, RBPJ, RUNX2
12
Show member pathways
8.9NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
138.9NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
148.6DLL3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
15
Show member pathways
8.6JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
16
Show member pathways
8.6JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
17
Show member pathways
8.3JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
18
Show member pathways
8.3JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
19
Show member pathways
8.0FLNA, FLNB, FLNC, NOTCH1, NOTCH2, NOTCH3
207.7DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4

GO Terms for genes affiliated with Hajdu-Cheney Syndrome

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Biological processes related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1regulation of developmental processGO:005079310.5NOTCH1, NOTCH2
2compartment pattern specificationGO:000738610.5DLL3, NOTCH1
3response to muramyl dipeptideGO:003249510.5JAG1, NOTCH1
4cardiac septum morphogenesisGO:006041110.5JAG1, NOTCH1
5neuronal stem cell population maintenanceGO:009715010.5JAG1, NOTCH1
6neuron fate commitmentGO:004866310.4NOTCH1, NOTCH3
7regulation of cell migrationGO:003033410.4JAG1, NOTCH1
8endocardium morphogenesisGO:000316010.3NOTCH1, RBPJ
9cardiac left ventricle morphogenesisGO:000321410.3NOTCH1, RBPJ
10blood vessel remodelingGO:000197410.3JAG1, RBPJ
11positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.3NOTCH1, RBPJ
12inflammatory response to antigenic stimulusGO:000243710.3NOTCH1, RBPJ
13regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiationGO:000325610.3NOTCH1, RBPJ
14pulmonary valve morphogenesisGO:000318410.2JAG1, NOTCH1, NOTCH2
15ventricular trabecula myocardium morphogenesisGO:000322210.2NOTCH1, RBPJ
16hemopoiesisGO:003009710.2JAG1, RBPJ
17somitogenesisGO:000175610.2HES7, RBPJ
18endothelial cell differentiationGO:004544610.1JAG1, NOTCH4
19keratinocyte differentiationGO:003021610.0JAG1, NOTCH1, RBPJ
20negative regulation of ossificationGO:003027910.0NOTCH1, RBPJ
21positive regulation of transcription of Notch receptor targetGO:000722110.0NOTCH1, NOTCH4, RBPJ
22negative regulation of neurogenesisGO:00507689.9DLL3, NOTCH1
23negative regulation of neuron differentiationGO:00456659.8JAG1, NOTCH1, NOTCH3
24Notch signaling involved in heart developmentGO:00613149.8JAG1, NOTCH1, NOTCH2, RBPJ
25Notch receptor processingGO:00072209.8NOTCH1, NOTCH2, NOTCH3, NOTCH4
26regulation of cell proliferationGO:00421279.5JAG1, NOTCH1, RBPJ
27regulation of transcription from RNA polymerase II promoterGO:00063579.3NOTCH1, RBPJ, RUNX2
28transcription initiation from RNA polymerase II promoterGO:00063679.1NOTCH1, NOTCH2, RBPJ, RUNX2
29Notch signaling pathwayGO:00072199.1DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
30cell differentiationGO:00301549.1DLL3, FLNB, NOTCH1, NOTCH2, NOTCH3, NOTCH4
31negative regulation of transcription, DNA-templatedGO:00458928.9HES7, NOTCH1, RBPJ, RUNX2
32positive regulation of transcription from RNA polymerase II promoterGO:00459448.2JAG1, NOTCH1, NOTCH3, RBPJ, RUNX2

Molecular functions related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter sequence-specific DNA bindingGO:00009799.4RBPJ, RUNX2

Sources for Hajdu-Cheney Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet