MCID: HJD001
MIFTS: 57

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 heart, 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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Diseases related to Hajdu-Cheney Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1acroosteolysis dominant type11.8
2hypotonia-cystinuria syndrome11.1
3osteodysplasia familial anderson type11.0
4hemochromatosis10.9
5atypical hypotonia-cystinuria syndrome10.9
6alagille syndrome 210.6NOTCH2, RNASEH2B
7osteoporosis10.6
8non 24 hour sleep wake disorder10.6NOTCH1, NOTCH2
9tardbp-related amyotrophic lateral sclerosis10.5DLL3, HES7
10middle ear adenoma10.4NOTCH1, NOTCH3
11vestibular neuronitis10.4NOTCH3, NOTCH4
12cervicitis10.4
13syringomyelia10.4
14kidney disease10.4
15childhood choroid plexus cancer10.4NOTCH3, NOTCH4
16tricuspid valve insufficiency10.4JAG1, NOTCH1
17macrocephaly, alopecia, cutis laxa, and scoliosis10.3JAG1, NOTCH1, NOTCH2
18melnick-needles syndrome10.3
19hydrocephalus10.3
20cystic kidney disease10.3
21seckel syndrome10.3DLL3, HES7
22tanycytic ependymoma10.3JAG1, NOTCH1
23mononeuritis10.3JAG1, NOTCH1, NOTCH3
24olivopontocerebellar atrophy deafness10.3NOTCH1, RBPJ
25q fever10.2NOTCH1, NOTCH3, NOTCH4
26lateral meningocele syndrome10.2
27premature ovarian failure10.2
28arthritis10.2
29glomerulonephritis10.2
30osteomyelitis10.2
31meningocele10.2
32arachnoiditis10.2
33ventricular septal defect10.2
34diabetic ketoacidosis10.2
35periodontitis10.2
36neuropathy10.2
37polycystic kidney disease10.2
38arachnoid cysts10.2
39growth hormone deficiency10.2
40syringohydromyelia10.2
41myopathy, distal, 410.1FLNA, FLNC
42aplasia cutis congenita dominant10.1NOTCH1, RBPJ
43tetanus10.0
44relapsing polychondritis10.0JAG1, NOTCH1
45hemicrania continua10.0
46neuroblastoma9.9
47familial atrial fibrillation9.9FLNA, FLNB, FLNC
48rheumatoid arthritis9.8
49breast cancer9.8
50hepatitis9.8

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

UMLS symptoms related to Hajdu-Cheney Syndrome:


joint laxity

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, Heart, Eye, Prostate, Myeloid, Lung

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 81)
idTitleAuthorsYear
1
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. (26894198)
2016
2
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
3
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. (26400009)
2015
4
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. (26184537)
2015
5
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. (24641753)
2014
6
Hajdu-Cheney syndrome: a case report with review of literature. (25426244)
2014
7
Hajdu-Cheney syndrome: a review. (25491639)
2014
8
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. (23970057)
2013
9
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
10
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
11
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
12
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
13
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
2012
14
Two-year cyclic infusion of pamidronate improves bone mass density and eliminates risk of fractures in a girl with osteoporosis due to Hajdu-Cheney syndrome. (22766895)
2012
15
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. (22749662)
2012
16
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
17
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
18
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
19
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
20
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
21
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
22
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
23
Periodontitis associated with Hajdu-Cheney syndrome. (17760556)
2007
24
Hajdu-Cheney syndrome in a 19-year-old man. (17229668)
2006
25
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
26
Hajdu-Cheney syndrome and syringomyelia. Case report. (12507146)
2002
27
Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome. (12175120)
2002
28
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. (10968485)
2000
29
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. (9714016)
1998
30
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (9220203)
1997
31
Severe Hajdu-Cheney syndrome with upper airway obstruction. (9188663)
1997
32
Syringohydromyelia in Hajdu-Cheney syndrome. (8598999)
1996
33
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
34
Acro-osteolysis (Hajdu-Cheney) syndrome: report of a case with abnormal tooth structure. (8680972)
1995
35
Hajdu-Cheney syndrome. (8203959)
1994
36
Acro-osteolysis (Hajdu-Cheney syndrome) (8172752)
1994
37
Hydrocephalus in Hajdu-Cheney syndrome. (8445627)
1993
38
C.T. findings in the Hajdu-Cheney syndrome. (1870934)
1991
39
Hajdu-Cheney syndrome: MR imaging. (1749477)
1991
40
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. (2347142)
1990
41
High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome). (2365959)
1990
42
Genetics of the Hajdu-Cheney syndrome. (3606689)
1987
43
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. (3527178)
1986
44
Hajdu-Cheney syndrome: rehabilitation after decompression of cervical spinal cord compromise. (6712442)
1984
45
Acro-osteolysis in a patient with Hajdu-Cheney syndrome demonstrated by bone scintigraphy. (6509839)
1984
46
Hajdu-Cheney syndrome. (547971)
1979
47
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). (707523)
1978
48
Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome. (896350)
1977
49
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. (1249686)
1976
50
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. (4699178)
1973

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
9.2FLNA, FLNB, FLNC
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
8.3DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
18
Show member pathways
8.3DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
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