HJCYS
MCID: HJD001
MIFTS: 59

Hajdu-Cheney Syndrome (HJCYS) malady

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

Aliases & Descriptions for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 54 12 24 25 66 29 13 42 14 69
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 24 25 66
Arthrodentoosteodysplasia 24 25 66
Cheney Syndrome 24 25 66
Hjcys 24 25 66
Acroosteolysis Dominant Type 25 69
Hereditary Osteodysplasia with Acro-Osteolysis 25
Cranioskeletal Dysplasia with Acro-Osteolysis 25
Serpentine Fibula-Polycystic Kidney Syndrome 25
Serpentine Fibula Polycystic Kidney Syndrome 69
Arthro-Dento-Osteo Dysplasia 25
Familial Osteodysplasia 25
Acro-Osteolysis 42
Sfpks 25
Hcs 66

Characteristics:

HPO:

32
hajdu-cheney syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 102500
Disease Ontology 12 DOID:2736
SNOMED-CT 64 27201004 63122002

Summaries for Hajdu-Cheney Syndrome

OMIM : 54 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 idiopathic phalangeal acro-osteolysis and acroosteolysis dominant type, and has symptoms including joint laxity, low-set ears and short neck. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch 2), and among its related pathways/superpathways are PAK Pathway and Glioma. The drugs Pamidronate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are growth/size/body region and cardiovascular system

Genetics Home Reference : 25 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 : 66 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 : 71 Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Related Diseases for Hajdu-Cheney Syndrome

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

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 idiopathic phalangeal acro-osteolysis 12.1
2 acroosteolysis dominant type 11.9
3 premature aging syndrome, penttinen type 11.5
4 hemicrania continua 11.2
5 singleton-merten syndrome 1 11.1
6 singleton-merten syndrome 2 11.1
7 penttinen-aula syndrome 11.1
8 van bogaert-hozay syndrome 11.1
9 hypotonia-cystinuria syndrome 11.0
10 osteodysplasia, familial, anderson type 10.8
11 hemochromatosis 10.8
12 osteoporosis 10.5
13 cervicitis 10.3
14 syringomyelia 10.3
15 kidney disease 10.3
16 non-small cell lung cancer, childhood 10.2 JAG1 NOTCH1 NOTCH2
17 spondylospinal thoracic dysostosis 10.2 DLL3 HES7 NOTCH1
18 hemochromatosis, type 2b 10.2 DLL3 HES7 NOTCH1
19 harrod syndrome 10.2 LMNA NOTCH1 ZMPSTE24
20 cystic kidney disease 10.2
21 hydrocephalus 10.2
22 secondary lacrimal atrophy 10.2 JAG1 NOTCH1 NOTCH3
23 muscular dystrophy-dystroglycanopathy , type a, 3 10.2 LMNA ZMPSTE24
24 bartonellosis 10.1 NOTCH1 NOTCH3 NOTCH4
25 acoustic neuroma 10.1 NOTCH3 NOTCH4
26 dyserythropoietic anemia, congenital, type ii 10.1 JAG1 NOTCH1 NOTCH2
27 colorectal cancer, hereditary nonpolyposis, type 4 10.1 DLL3 HES7 NOTCH1 NOTCH2
28 schistosomiasis 10.1 JAG1 NOTCH3 RBPJ
29 porencephaly 10.1 JAG1 NOTCH2 PKDREJ
30 trichorhinophalangeal syndrome 10.1 DLL3 HES7
31 testicular germ cell tumor non-seminomatous 10.0 FLNA JAG1 NOTCH1
32 arthritis 10.0
33 glomerulonephritis 10.0
34 periodontitis 10.0
35 neuropathy 10.0
36 polycystic kidney disease 10.0
37 osteomyelitis 10.0
38 arachnoid cysts 10.0
39 meningocele 10.0
40 growth hormone deficiency 10.0
41 arachnoiditis 10.0
42 ventricular septal defect 10.0
43 squamous cell carcinoma 10.0
44 syringohydromyelia 10.0
45 lateral meningocele syndrome 10.0
46 premature ovarian failure 10.0
47 vitelliform macular dystrophy 10.0 FLNA FLNB FLNC
48 telogen effluvium 10.0 DLL3 HES7 RUNX2
49 t-cell large granular lymphocyte leukemia 9.9 FLNC LMNA PKDREJ
50 tetanus 9.9

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



Diseases related to Hajdu-Cheney Syndrome

Symptoms & Phenotypes for Hajdu-Cheney Syndrome

Symptoms by clinical synopsis from OMIM:

102500

Clinical features from OMIM:

102500

Human phenotypes related to Hajdu-Cheney Syndrome:

32 (show top 50) (show all 51)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 genu valgum 32 HP:0002857
5 high palate 32 HP:0000218
6 hydrocephalus 32 HP:0000238
7 osteopenia 32 HP:0000938
8 failure to thrive 32 HP:0001508
9 inguinal hernia 32 HP:0000023
10 coarse facial features 32 HP:0000280
11 dental malocclusion 32 HP:0000689
12 umbilical hernia 32 HP:0001537
13 anteverted nares 32 HP:0000463
14 thick eyebrow 32 HP:0000574
15 short stature 32 HP:0004322
16 osteoporosis 32 HP:0000939
17 full cheeks 32 HP:0000293
18 long philtrum 32 HP:0000343
19 micrognathia 32 HP:0000347
20 patent ductus arteriosus 32 HP:0001643
21 epicanthus 32 HP:0000286
22 wormian bones 32 HP:0002645
23 pathologic fracture 32 HP:0002756
24 cryptorchidism 32 HP:0000028
25 telecanthus 32 HP:0000506
26 hypospadias 32 HP:0000047
27 downslanted palpebral fissures 32 HP:0000494
28 conductive hearing impairment 32 HP:0000405
29 intestinal malrotation 32 HP:0002566
30 abnormality of the cardiac septa 32 HP:0001671
31 long eyelashes 32 HP:0000527
32 synophrys 32 HP:0000664
33 large earlobe 32 HP:0009748
34 wide nose 32 HP:0000445
35 kyphoscoliosis 32 HP:0002751
36 renal cyst 32 HP:0000107
37 biconcave vertebral bodies 32 HP:0004586
38 dislocated radial head 32 HP:0003083
39 hirsutism 32 HP:0001007
40 short nail 32 HP:0001799
41 premature loss of teeth 32 HP:0006480
42 vertebral compression fractures 32 HP:0002953
43 basilar impression 32 HP:0005758
44 absent frontal sinuses 32 HP:0002688
45 osteolytic defects of the phalanges of the hand 32 HP:0009771
46 osteolytic defects of the phalanges of the toes 32 HP:0010177
47 foot acroosteolysis 32 HP:0001842
48 elongated sella turcica 32 HP:0005463
49 crowded carpal bones 32 HP:0006180
50 tall lumbar vertebral bodies 32 HP:0008421

UMLS symptoms related to Hajdu-Cheney Syndrome:


joint laxity

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 DLL3 FLNA FLNB FLNC GLI3 HES7
2 cardiovascular system MP:0005385 10.46 FLNB FLNC GLI3 JAG1 LMNA NOTCH1
3 cellular MP:0005384 10.38 NOTCH1 NOTCH2 NOTCH3 RBPJ RUNX2 TET2
4 mortality/aging MP:0010768 10.38 RUNX2 TET2 ZMPSTE24 FLNB FLNC GLI3
5 homeostasis/metabolism MP:0005376 10.31 FLNA FLNB GLI3 JAG1 LMNA NOTCH1
6 craniofacial MP:0005382 10.3 DLL3 FLNA FLNB GLI3 JAG1 LMNA
7 endocrine/exocrine gland MP:0005379 10.27 GLI3 JAG1 LMNA NOTCH1 NOTCH2 NOTCH3
8 hematopoietic system MP:0005397 10.25 FLNA JAG1 LMNA NOTCH1 NOTCH2 NOTCH3
9 nervous system MP:0003631 10.25 ZMPSTE24 DLL3 FLNA FLNB GLI3 JAG1
10 digestive/alimentary MP:0005381 10.24 FLNA GLI3 JAG1 LMNA NOTCH1 NOTCH2
11 embryo MP:0005380 10.24 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
12 integument MP:0010771 10.22 FLNC GLI3 JAG1 LMNA NOTCH1 NOTCH2
13 muscle MP:0005369 10.16 DLL3 FLNC JAG1 LMNA NOTCH1 NOTCH2
14 limbs/digits/tail MP:0005371 10.11 DLL3 FLNB GLI3 HES7 LMNA NOTCH2
15 liver/biliary system MP:0005370 10.1 FLNA JAG1 LMNA NOTCH1 NOTCH2 RUNX2
16 normal MP:0002873 10.1 NOTCH2 NOTCH3 NOTCH4 RBPJ TET2 FLNA
17 hearing/vestibular/ear MP:0005377 10.03 DLL3 GLI3 JAG1 LMNA NOTCH1 NOTCH3
18 renal/urinary system MP:0005367 9.97 NOTCH2 NOTCH3 RBPJ TET2 ZMPSTE24 GLI3
19 reproductive system MP:0005389 9.96 DLL3 FLNA GLI3 IZUMO1 LMNA NOTCH2
20 respiratory system MP:0005388 9.85 LMNA NOTCH1 NOTCH2 NOTCH3 RBPJ RUNX2
21 pigmentation MP:0001186 9.77 RBPJ GLI3 LMNA NOTCH1 NOTCH2
22 skeleton MP:0005390 9.77 DLL3 FLNA FLNB GLI3 HES7 JAG1
23 vision/eye MP:0005391 9.32 DLL3 FLNA GLI3 JAG1 LMNA NOTCH1

Drugs & Therapeutics for Hajdu-Cheney Syndrome

Drugs for Hajdu-Cheney Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Bisphosphonate Therapy in MONA Spectrum Disorder Completed NCT02823925

Search NIH Clinical Center for Hajdu-Cheney Syndrome

Cochrane evidence based reviews: hajdu-cheney syndrome

Genetic Tests for Hajdu-Cheney Syndrome

Genetic tests related to Hajdu-Cheney Syndrome:

id Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome 29 24 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

39
Bone, Kidney, Heart, Eye, Spinal Cord

Publications for Hajdu-Cheney Syndrome

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 89)
id Title Authors Year
1
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
2
Hajdu-Cheney syndrome - a rare cause of micrognathia. ( 27488012 )
2016
3
Hajdu Cheney Syndrome. ( 27042504 )
2016
4
Poster 315 Complications Associated with Hajdu-Cheney Syndrome: A Case Report. ( 27673071 )
2016
5
Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome. ( 27857819 )
2016
6
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. ( 27241678 )
2016
7
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. ( 27312922 )
2016
8
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. ( 26894198 )
2016
9
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. ( 27592446 )
2016
10
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. ( 28040705 )
2016
11
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. ( 26400009 )
2015
12
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
13
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. ( 26184537 )
2015
14
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. ( 25696021 )
2015
15
Hajdu-Cheney syndrome: a case report with review of literature. ( 25426244 )
2014
16
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation. ( 24608068 )
2014
17
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. ( 24641753 )
2014
18
Hajdu-Cheney syndrome: a review. ( 25491639 )
2014
19
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. ( 23117206 )
2013
20
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
21
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome. ( 23566664 )
2013
22
One-bone forearm procedure for Hajdu-Cheney syndrome: a case report. ( 24426971 )
2013
23
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. ( 23970057 )
2013
24
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. ( 24265536 )
2013
25
A case report of anesthesia for a child with Hajdu-Cheney syndrome. ( 23728363 )
2013
26
Hajdu-Cheney syndrome with ventricular septal defect. ( 23684141 )
2013
27
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. ( 24010868 )
2013
28
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. ( 23389697 )
2013
29
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. ( 21712856 )
2012
30
A girl with Hajdu-Cheney syndrome and premature ovarian failure. ( 22570971 )
2012
31
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
32
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. ( 22749662 )
2012
33
Genetics: New data on Hajdu-Cheney syndrome turns up bone research a NOTCH. ( 21502983 )
2011
34
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. ( 21671395 )
2011
35
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. ( 21488202 )
2011
36
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. ( 21378985 )
2011
37
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. ( 21681853 )
2011
38
Hajdu-Cheney syndrome with severe dural ectasia. ( 21337686 )
2011
39
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. ( 18815778 )
2009
40
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. ( 20158625 )
2009
41
A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus. ( 18727725 )
2009
42
Anesthesia for a child with Hajdu-Cheney syndrome. ( 19646007 )
2009
43
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up. ( 17874031 )
2008
44
Spinal reconstruction in Hajdu-Cheney syndrome. ( 18556886 )
2008
45
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. ( 17159511 )
2007
46
Hajdu-Cheney syndrome: report of a case. ( 18001156 )
2007
47
Periodontitis associated with Hajdu-Cheney syndrome. ( 17760556 )
2007
48
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome. ( 17103298 )
2007
49
Hajdu-Cheney syndrome: report of a family and a short literature review. ( 17107523 )
2006
50
Hajdu-Cheney syndrome in a 19-year-old man. ( 17229668 )
2006

Variations for Hajdu-Cheney Syndrome

ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH2 NOTCH2, TYR2373TER single nucleotide variant Pathogenic
2 NOTCH2 NM_024408.3(NOTCH2): c.6949C> T (p.Gln2317Ter) single nucleotide variant Pathogenic rs387906747 GRCh37 Chromosome 1, 120458396: 120458396
3 NOTCH2 NOTCH2, 1-BP DEL, 6272T deletion Pathogenic
4 NOTCH2 NOTCH2, 1-BP DEL, 6460T deletion Pathogenic
5 NOTCH2 NM_024408.3(NOTCH2): c.6622C> T (p.Gln2208Ter) single nucleotide variant Pathogenic rs387906746 GRCh37 Chromosome 1, 120458723: 120458723
6 NOTCH2 NM_024408.3(NOTCH2): c.6895G> T (p.Glu2299Ter) single nucleotide variant Pathogenic rs387906748 GRCh37 Chromosome 1, 120458450: 120458450
7 NOTCH2 NM_024408.3(NOTCH2): c.7165C> T (p.Gln2389Ter) single nucleotide variant Pathogenic rs387906749 GRCh37 Chromosome 1, 120458180: 120458180
8 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh37 Chromosome 1, 120460308: 120460308

Expression for Hajdu-Cheney Syndrome

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

Pathways for Hajdu-Cheney Syndrome

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

(show all 26)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 FLNA FLNB FLNC NOTCH1 NOTCH2 NOTCH3
2
Show member pathways
12.92 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
3
Show member pathways
12.75 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
4
Show member pathways
12.49 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 RBPJ
5 12.44 NOTCH1 NOTCH2 NOTCH3 NOTCH4
6 12.4 FLNA FLNB FLNC LMNA
7 12.39 NOTCH1 NOTCH2 NOTCH3 NOTCH4
8
Show member pathways
12.3 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
9
Show member pathways
12.02 NOTCH1 NOTCH2 NOTCH3 NOTCH4
10 12.01 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
11
Show member pathways
12 JAG1 NOTCH1 NOTCH2 RBPJ
12
Show member pathways
11.93 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
13 11.89 NOTCH1 NOTCH2 NOTCH3 NOTCH4
14 11.88 NOTCH1 NOTCH2 NOTCH3 NOTCH4
15 11.76 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
16 11.74 DLL3 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
17 11.72 FLNA FLNB FLNC
18 11.66 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
19 11.43 NOTCH1 RBPJ RUNX2
20 11.42 JAG1 NOTCH1 RBPJ
21 11.25 NOTCH1 NOTCH2 NOTCH4 RBPJ
22 11.12 NOTCH1 NOTCH2 NOTCH3 NOTCH4
23 10.93 DLL3 JAG1 NOTCH1
24 10.85 JAG1 NOTCH1
25 10.64 HES7 NOTCH1
26 10.6 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4

GO Terms for Hajdu-Cheney Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.33 NOTCH1 NOTCH2 NOTCH3
2 Z disc GO:0030018 9.13 FLNA FLNB FLNC
3 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ

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

(show top 50) (show all 52)
id Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.95 GLI3 JAG1 NOTCH1 RBPJ
2 neuron differentiation GO:0030182 9.89 NOTCH1 RBPJ RUNX2
3 keratinocyte differentiation GO:0030216 9.83 JAG1 NOTCH1 RBPJ
4 forebrain development GO:0030900 9.82 GLI3 NOTCH1 NOTCH3
5 positive regulation of osteoblast differentiation GO:0045669 9.8 GLI3 JAG1 RUNX2
6 transcription initiation from RNA polymerase II promoter GO:0006367 9.8 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
7 somitogenesis GO:0001756 9.79 DLL3 HES7 RBPJ
8 regulation of cell migration GO:0030334 9.78 FLNA JAG1 LMNA NOTCH1
9 negative regulation of neuron differentiation GO:0045665 9.73 GLI3 JAG1 NOTCH1 NOTCH3
10 neuron fate commitment GO:0048663 9.72 GLI3 NOTCH1 NOTCH3
11 artery morphogenesis GO:0048844 9.71 NOTCH3 RBPJ
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.71 NOTCH1 RBPJ
13 nuclear envelope organization GO:0006998 9.71 LMNA ZMPSTE24
14 neuronal stem cell population maintenance GO:0097150 9.7 JAG1 NOTCH1
15 negative regulation of ossification GO:0030279 9.7 NOTCH1 RBPJ
16 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 NOTCH1
17 negative regulation of neurogenesis GO:0050768 9.7 DLL3 NOTCH1
18 positive regulation of chondrocyte differentiation GO:0032332 9.69 GLI3 RUNX2
19 negative regulation of smoothened signaling pathway GO:0045879 9.69 GLI3 RUNX2
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.69 NOTCH1 RBPJ
21 endothelial cell differentiation GO:0045446 9.68 JAG1 NOTCH4
22 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.68 NOTCH1 RBPJ
23 negative regulation of stem cell differentiation GO:2000737 9.68 JAG1 NOTCH1
24 inflammatory response to antigenic stimulus GO:0002437 9.68 NOTCH1 RBPJ
25 cell junction assembly GO:0034329 9.67 FLNA FLNC
26 response to muramyl dipeptide GO:0032495 9.67 JAG1 NOTCH1
27 cell fate determination GO:0001709 9.67 JAG1 NOTCH2 NOTCH4
28 cardiac left ventricle morphogenesis GO:0003214 9.65 NOTCH1 RBPJ
29 cardiac septum morphogenesis GO:0060411 9.65 JAG1 NOTCH1
30 regulation of somitogenesis GO:0014807 9.64 HES7 NOTCH1
31 Notch receptor processing GO:0007220 9.63 JAG1 NOTCH3 NOTCH4
32 hemopoiesis GO:0030097 9.63 JAG1 NOTCH2 NOTCH4 RBPJ RUNX2 TET2
33 negative regulation of endothelial cell differentiation GO:0045602 9.62 JAG1 NOTCH4
34 interleukin-4 secretion GO:0072602 9.61 NOTCH1 RBPJ
35 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.6 NOTCH1 RBPJ
36 compartment pattern specification GO:0007386 9.59 DLL3 NOTCH1
37 endocardium development GO:0003157 9.58 NOTCH1 RBPJ
38 auditory receptor cell fate commitment GO:0009912 9.58 NOTCH1 RBPJ
39 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.57 NOTCH1 RBPJ
40 distal tubule development GO:0072017 9.56 JAG1 NOTCH1
41 Notch signaling involved in heart development GO:0061314 9.56 JAG1 NOTCH1 NOTCH2 RBPJ
42 regulation of developmental process GO:0050793 9.54 NOTCH1 NOTCH2
43 pulmonary valve morphogenesis GO:0003184 9.54 JAG1 NOTCH1 NOTCH2
44 endocardium morphogenesis GO:0003160 9.52 NOTCH1 RBPJ
45 positive regulation of transcription of Notch receptor target GO:0007221 9.5 NOTCH1 NOTCH4 RBPJ
46 negative regulation of cell differentiation GO:0045596 9.43 GLI3 JAG1 NOTCH1 NOTCH3 NOTCH4 RBPJ
47 Notch signaling pathway GO:0007219 9.23 DLL3 HES7 JAG1 NOTCH1 NOTCH2 NOTCH3
48 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.15 GLI3 JAG1 NOTCH1 NOTCH3 RBPJ RUNX2
49 cell differentiation GO:0030154 10.14 DLL3 FLNB NOTCH1 NOTCH2 NOTCH3 NOTCH4
50 multicellular organism development GO:0007275 10.11 DLL3 FLNB HES7 JAG1 NOTCH1 NOTCH2

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.5 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
2 receptor activity GO:0004872 9.46 NOTCH1 NOTCH2 NOTCH3 NOTCH4
3 Notch binding GO:0005112 8.8 DLL3 JAG1 NOTCH1
4 protein binding GO:0005515 10.13 FLNA FLNB FLNC GLI3 IZUMO1 JAG1

Sources for Hajdu-Cheney Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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