MCID: HJD001
MIFTS: 55

Hajdu-Cheney Syndrome malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Hajdu-Cheney Syndrome

About this section

Aliases & Descriptions for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 49 10 11 45 22 23 12 24 65 36 67
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 45 22 23 67
Arthrodentoosteodysplasia 45 22 23 67
Cheney Syndrome 45 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


Classifications:



External Ids:

OMIM49 102500
Disease Ontology10 DOID:2736
SNOMED-CT59 27201004, 63122002
NCIt42 C84745

Summaries for Hajdu-Cheney Syndrome

About this section
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 osteoporosis and melnick-needles syndrome, and has symptoms including intestinal malrotation, autosomal dominant inheritance and inguinal hernia. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch 2), and among its related pathways are Development NOTCH1-mediated pathway for NF-KB activity modulation and Thyroid hormone signaling pathway. Affiliated tissues include kidney, bone and heart, and related mouse phenotypes are renal/urinary system and craniofacial.

NIH Rare Diseases:45 Hajdu-cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis. other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. most patients have normal intelligence. this condition is inherited in an autosomal dominant fashion and caused by mutations in the notch2 gene.  last updated: 11/4/2011

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

About this section

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1osteoporosis10.8
2melnick-needles syndrome10.6
3syringomyelia10.6
4cervicitis10.6
5acroosteolysis dominant type10.5
6hydrocephalus10.5
7cystic kidney10.5
8kidney disease10.5
9lateral meningocele syndrome10.4
10premature ovarian failure10.4
11arthritis10.4
12glomerulonephritis10.4
13meningocele10.4
14arachnoiditis10.4
15diabetic ketoacidosis10.4
16neuropathy10.4
17osteomyelitis10.4
18periodontitis10.4
19ventricular septal defect10.4
20arachnoid cysts10.4
21growth hormone deficiency10.4
22syringohydromyelia10.4
23alagille syndrome 210.2NOTCH2, RNASEH2B
24tardbp-related amyotrophic lateral sclerosis10.2DLL3, HES7
25galactosemia10.2
26liver disease10.2
27tetanus10.2
28vestibular neuronitis10.1NOTCH3, NOTCH4
29duodenogastric reflux10.1JAG1, NOTCH1
30non 24 hour sleep wake disorder10.1JAG1, NOTCH1, NOTCH2
31seckel syndrome10.1DLL3, HES7
32trachea adenoid cystic carcinoma10.1NOTCH3, NOTCH4
33neuroblastoma10.1
34hypotonia-cystinuria syndrome10.1
35alzheimer disease10.1
36inflammatory bowel disease 2110.1
37hepatitis10.1
38hepatitis c10.1
39subacute delirium10.1
40amnestic disorder10.1
41central nervous system disease10.1
42dementia10.1
43hemorrhoid10.1
44prion disease10.1
45rectal disease10.1
46tauopathy10.1
47macrocephaly, alopecia, cutis laxa, and scoliosis10.1JAG1, NOTCH1, NOTCH2
48osteodysplasia familial anderson type10.1
49dyshidrosis10.1JAG1, NOTCH1, NOTCH3
50tolosa-hunt syndrome10.0JAG1, NOTCH1

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



Diseases related to hajdu-cheney syndrome

Symptoms for Hajdu-Cheney Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

102500

Clinical features from OMIM:

102500

HPO human phenotypes related to Hajdu-Cheney Syndrome:

(show all 51)
id Description Frequency HPO Source Accession
1 intestinal malrotation rare (5%) HP:0002566
2 autosomal dominant inheritance HP:0000006
3 inguinal hernia HP:0000023
4 cryptorchidism HP:0000028
5 hypospadias HP:0000047
6 renal cyst HP:0000107
7 high palate HP:0000218
8 hydrocephalus HP:0000238
9 coarse facial features HP:0000280
10 epicanthus HP:0000286
11 full cheeks HP:0000293
12 long philtrum HP:0000343
13 micrognathia HP:0000347
14 low-set ears HP:0000369
15 conductive hearing impairment HP:0000405
16 wide nose HP:0000445
17 anteverted nares HP:0000463
18 short neck HP:0000470
19 downslanted palpebral fissures HP:0000494
20 telecanthus HP:0000506
21 long eyelashes HP:0000527
22 thick eyebrow HP:0000574
23 synophrys HP:0000664
24 dental malocclusion HP:0000689
25 osteopenia HP:0000938
26 osteoporosis HP:0000939
27 hirsutism HP:0001007
28 joint laxity HP:0001388
29 failure to thrive HP:0001508
30 umbilical hernia HP:0001537
31 patent ductus arteriosus HP:0001643
32 abnormality of the cardiac septa HP:0001671
33 short nail HP:0001799
34 acroosteolysis (feet) HP:0001842
35 wormian bones HP:0002645
36 absent frontal sinuses HP:0002688
37 kyphoscoliosis HP:0002751
38 pathologic fracture HP:0002756
39 genu valgum HP:0002857
40 vertebral compression fractures HP:0002953
41 dislocated radial head HP:0003083
42 short stature HP:0004322
43 biconcave vertebral bodies HP:0004586
44 elongated sella turcica HP:0005463
45 basilar impression HP:0005758
46 crowded carpal bones HP:0006180
47 premature loss of teeth HP:0006480
48 tall lumbar vertebral bodies HP:0008421
49 cervical instability HP:0008462
50 large earlobe HP:0009748
51 osteolytic defects of the phalanges of the hand HP:0009771

Drugs & Therapeutics for Hajdu-Cheney Syndrome

About this section

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

About this section

Genetic tests related to Hajdu-Cheney Syndrome:

id Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome22 24 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

About this section

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

33
Kidney, Bone, Heart, Eye, Spinal cord

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9JAG1, NOTCH1, NOTCH2, NOTCH3, RBPJ
2MP:00053828.7DLL3, FLNA, FLNB, JAG1, NOTCH1, NOTCH2
3MP:00028738.7FLNA, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
4MP:00053908.3DLL3, FLNA, FLNB, HES7, JAG1, NOTCH1
5MP:00107717.8FLNC, JAG1, NOTCH1, NOTCH2, NOTCH3, RBPJ
6MP:00053697.7DLL3, FLNC, JAG1, NOTCH1, NOTCH2, NOTCH3
7MP:00053887.7FLNA, FLNC, NOTCH1, NOTCH2, NOTCH3, RBPJ
8MP:00053807.6DLL3, HES7, JAG1, NOTCH1, NOTCH2, NOTCH3
9MP:00053866.7DLL3, FLNA, FLNB, FLNC, JAG1, NOTCH3
10MP:00053856.6FLNA, FLNB, FLNC, JAG1, NOTCH1, NOTCH2
11MP:00036316.6DLL3, FLNA, FLNB, JAG1, NOTCH1, NOTCH2
12MP:00107686.1DLL3, FLNA, FLNB, FLNC, HES7, JAG1
13MP:00053785.6DLL3, FLNA, FLNB, FLNC, HES7, JAG1

Publications for Hajdu-Cheney Syndrome

About this section

Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
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
2
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. (26400009)
2015
3
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. (26184537)
2015
4
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. (24641753)
2014
5
Hajdu-Cheney syndrome: a case report with review of literature. (25426244)
2014
6
Hajdu-Cheney syndrome: a review. (25491639)
2014
7
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. (23970057)
2013
8
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
9
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
10
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
11
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
12
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
2012
13
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
14
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. (22749662)
2012
15
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
16
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
17
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
18
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
19
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
20
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
21
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
22
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up. (17874031)
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

About this section

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

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

Pathways for genes affiliated with Hajdu-Cheney Syndrome

About this section

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

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2JAG1, NOTCH1, RBPJ
29.1NOTCH1, NOTCH2, NOTCH3, NOTCH4
39.1NOTCH1, NOTCH2, NOTCH3, NOTCH4
49.1NOTCH1, NOTCH2, NOTCH3, NOTCH4
59.1NOTCH1, NOTCH2, NOTCH3, NOTCH4
6
Show member pathways
9.0JAG1, NOTCH1, NOTCH2, RBPJ
7
Angiogenesis (CST)
Show member pathways
8.8JAG1, NOTCH1, NOTCH2, RBPJ
88.7FLNA, FLNB, FLNC
98.7FLNA, FLNB, FLNC
10
Salmonella infection (KEGG)
Show member pathways
8.7FLNA, FLNB, FLNC
118.5NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
12
Show member pathways
8.5NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
138.2DLL3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
14
Show member pathways
8.2JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
157.8DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
167.8DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
17
Notch signaling pathway (KEGG)
Show member pathways
7.8DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
18
Notch signaling pathway (Pathway Interaction Database)
Show member pathways
7.8DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
19
Show member pathways
7.3FLNA, FLNB, FLNC, NOTCH1, NOTCH2, NOTCH3
20
Show member pathways
6.7FLNA, FLNB, FLNC, NOTCH1, NOTCH2, NOTCH3

GO Terms for genes affiliated with Hajdu-Cheney Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1MAML1-RBP-Jkappa- ICN1 complexGO:000219310.3NOTCH1, RBPJ
2receptor complexGO:004323510.0NOTCH1, NOTCH2, NOTCH3
3Golgi membraneGO:00001399.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
4extracellular regionGO:00055768.3FLNA, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
5plasma membraneGO:00058866.2FLNA, FLNB, FLNC, IZUMO1, JAG1, NOTCH1

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:007201710.6JAG1, NOTCH1
2positive regulation of Notch signaling pathwayGO:004574710.4JAG1, NOTCH1
3neuron fate commitmentGO:004866310.4NOTCH1, NOTCH3
4regulation of somitogenesisGO:001480710.4HES7, NOTCH1
5negative regulation of stem cell differentiationGO:200073710.4JAG1, NOTCH1
6response to muramyl dipeptideGO:003249510.4JAG1, NOTCH1
7neuronal stem cell population maintenanceGO:009715010.4JAG1, NOTCH1
8regulation of Notch signaling pathwayGO:000859310.3NOTCH1, NOTCH4
9endocardium developmentGO:000315710.3NOTCH1, RBPJ
10endocardium morphogenesisGO:000316010.3NOTCH1, RBPJ
11auditory receptor cell fate commitmentGO:000991210.3NOTCH1, RBPJ
12interleukin-4 secretionGO:007260210.3NOTCH1, RBPJ
13endothelial cell differentiationGO:004544610.3JAG1, NOTCH4
14epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.2NOTCH1, RBPJ
15ventricular trabecula myocardium morphogenesisGO:000322210.2NOTCH1, RBPJ
16inflammatory response to antigenic stimulusGO:000243710.2NOTCH1, RBPJ
17pulmonary valve morphogenesisGO:000318410.2JAG1, NOTCH1, NOTCH2
18cardiac left ventricle morphogenesisGO:000321410.2NOTCH1, RBPJ
19regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiationGO:000325610.2NOTCH1, RBPJ
20positive regulation of cardiac muscle cell proliferationGO:006004510.2NOTCH1, RBPJ
21positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.2NOTCH1, RBPJ
22cardiac septum morphogenesisGO:006041110.1JAG1, NOTCH1
23negative regulation of ossificationGO:003027910.1NOTCH1, RBPJ
24artery morphogenesisGO:004884410.0NOTCH3, RBPJ
25positive regulation of BMP signaling pathwayGO:003051310.0NOTCH1, RBPJ
26negative regulation of neuron differentiationGO:004566510.0JAG1, NOTCH1, NOTCH3
27blood vessel remodelingGO:00019749.9JAG1, RBPJ
28positive regulation of transcription of Notch receptor targetGO:00072219.9NOTCH1, NOTCH4, RBPJ
29cell fate determinationGO:00017099.9JAG1, NOTCH2, NOTCH4
30regulation of developmental processGO:00507939.8NOTCH1, NOTCH2, NOTCH3, NOTCH4
31Notch signaling involved in heart developmentGO:00613149.6JAG1, NOTCH1, NOTCH2, RBPJ
32epithelial to mesenchymal transitionGO:00018379.6FLNA, NOTCH1, RBPJ
33keratinocyte differentiationGO:00302169.4JAG1, NOTCH1, RBPJ
34Notch receptor processingGO:00072209.4JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
35regulation of cell proliferationGO:00421279.4JAG1, NOTCH1, RBPJ
36hemopoiesisGO:00300979.2JAG1, NOTCH2, NOTCH4, RBPJ
37transcription initiation from RNA polymerase II promoterGO:00063679.0NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
38negative regulation of cell differentiationGO:00455968.9JAG1, NOTCH1, NOTCH3, NOTCH4, RBPJ
39cell differentiationGO:00301548.7DLL3, FLNB, NOTCH1, NOTCH2, NOTCH3, NOTCH4
40multicellular organismal developmentGO:00072758.5DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
41gene expressionGO:00104678.2NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
42Notch signaling pathwayGO:00072198.1DLL3, HES7, JAG1, NOTCH1, NOTCH2, NOTCH3

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

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:00051129.6DLL3, JAG1, NOTCH1, NOTCH4
2calcium ion bindingGO:00055098.5DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4

Sources for Hajdu-Cheney Syndrome

About this section
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