MCID: HJD001
MIFTS: 64

Hajdu-Cheney Syndrome

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

MalaCards integrated aliases for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 53 12 24 71 36 28 13 41 14 69
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 53 24 71
Arthrodentoosteodysplasia 53 24 71
Cheney Syndrome 53 24 71
Hjcys 53 24 71
Serpentine Fibula-Polycystic Kidney Syndrome 53 24
Acroosteolysis Dominant Type 24 69
Sfpks 53 24
Serpentine Fibula-Polycystic Kidney Syndrome; Sfpks 53
Hereditary Osteodysplasia with Acro-Osteolysis 24
Cranioskeletal Dysplasia with Acro-Osteolysis 24
Serpentine Fibula Polycystic Kidney Syndrome 69
Arthro-Dento-Osteo Dysplasia 24
Familial Osteodysplasia 24
Acro-Osteolysis 41
Hcs 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
hajdu-cheney syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hajdu-Cheney Syndrome

OMIM : 53 Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011). (102500)

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 idiopathic phalangeal acro-osteolysis, 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 Notch signaling pathway and ERK Signaling. The drugs Pamidronate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and heart, and related phenotypes are growth/size/body region and mortality/aging

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

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)
# Related Disease Score Top Affiliating Genes
1 acroosteolysis dominant type 12.3
2 idiopathic phalangeal acro-osteolysis 12.2
3 premature aging syndrome, penttinen type 11.6
4 penttinen-aula syndrome 11.5
5 hemicrania continua 11.3
6 holocarboxylase synthetase deficiency 11.3
7 singleton-merten syndrome 1 11.2
8 singleton-merten syndrome 2 11.2
9 hypotonia-cystinuria syndrome 11.2
10 osteodysplasia, familial, anderson type 11.0
11 hemochromatosis, type 1 10.9
12 bone mineral density quantitative trait locus 15 10.6
13 osteoporosis 10.6
14 bone mineral density quantitative trait locus 8 10.6
15 spondylocostal dysostosis, autosomal recessive 10.4 DLL3 HES7
16 acroosteolysis 10.4
17 cervicitis 10.4
18 lacrimal gland adenoid cystic carcinoma 10.4 NOTCH1 NOTCH2
19 nodular regenerative hyperplasia 10.3 JAG1 NOTCH1 NOTCH2
20 syringomyelia 10.3
21 kidney disease 10.3
22 spondylocostal dysostosis 3, autosomal recessive 10.3 DLL3 HES7 NOTCH1
23 spondylocostal dysostosis 1, autosomal recessive 10.3 DLL3 HES7
24 ossifying fibroma 10.3 JAG1 NOTCH1 NOTCH3
25 chorioretinal scar 10.3 NOTCH1 NOTCH3 NOTCH4
26 hydrocephalus 10.3
27 cystic kidney disease 10.3
28 renal-hepatic-pancreatic dysplasia 10.2 JAG1 NOTCH2 PKDREJ
29 pseudobulbar palsy 10.1 NOTCH3 NOTCH4
30 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1 JAG1 NOTCH1 NOTCH3 NOTCH4
31 precursor t-cell acute lymphoblastic leukemia 10.1 FBXW7 NOTCH1 NOTCH3
32 lateral meningocele syndrome 10.1
33 premature ovarian failure 1 10.1
34 diabetes mellitus, ketosis-prone 10.1
35 arthritis 10.1
36 glomerulonephritis 10.1
37 osteomyelitis 10.1
38 meningocele 10.1
39 arachnoiditis 10.1
40 ventricular septal defect 10.1
41 squamous cell carcinoma 10.1
42 periodontitis 10.1
43 neuropathy 10.1
44 polycystic kidney disease 10.1
45 arachnoid cysts 10.1
46 growth hormone deficiency 10.1
47 syringohydromyelia 10.1
48 ring chromosome y syndrome 10.1
49 tricuspid valve stenosis 10.1 FLNA JAG1 NOTCH1
50 tetanus 10.0

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 via clinical synopsis from OMIM:

53
Skeletal:
joint laxity
osteopenia
osteoporosis
pathologic fractures

Head And Neck Ears:
low-set ears
hearing loss, conductive
prominent ear lobes

Neurologic Central Nervous System:
hydrocephalus
normal intelligence

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Nose:
anteverted nares
broad nose

Head And Neck Face:
full cheeks
long philtrum
micrognathia
coarse facies

Skeletal Skull:
wormian bones
bathrocephaly
failure of suture ossification
thickened skull vault
absent frontal sinus
more
Head And Neck Eyes:
telecanthus
long eyelashes
synophrys
downslanting palpebral fissures
epicanthal folds
more
Skeletal Spine:
kyphoscoliosis
narrow disc space
biconcave vertebrae
tall lumbar vertebral bodies
cervical instability
more
Head And Neck Teeth:
malocclusion
early tooth loss

Head And Neck Head:
bathrocephaly

Abdomen Gastroin testinal:
intestinal malrotation (less common)

Skeletal Hands:
pseudoclubbing
short distal digits
acroosteolysis
crowded carpal bones

Skin Nails Hair Nails:
short nails
curved nails

Skeletal Limbs:
joint laxity
genu valgum
dislocation of radial head
long, bowed fibulae
serpentine fibulae

Head And Neck Neck:
short neck

Growth Other:
failure to thrive

Abdomen External Features:
umbilical hernia

Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
long eyelashes
synophrys
thick eyebrows
thick, straight hair

Skin Nails Hair Skin:
hirsutism

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
congenital heart disease (variable)
septal defects

Genitourinary Kidneys:
renal cysts

Skeletal Feet:
short distal digits
acroosteolysis


Clinical features from OMIM:

102500

Human phenotypes related to Hajdu-Cheney Syndrome:

31 (show all 50)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 HP:0001388
2 low-set ears 31 HP:0000369
3 short neck 31 HP:0000470
4 genu valgum 31 HP:0002857
5 high palate 31 HP:0000218
6 hydrocephalus 31 HP:0000238
7 osteopenia 31 HP:0000938
8 failure to thrive 31 HP:0001508
9 inguinal hernia 31 HP:0000023
10 coarse facial features 31 HP:0000280
11 dental malocclusion 31 HP:0000689
12 umbilical hernia 31 HP:0001537
13 anteverted nares 31 HP:0000463
14 thick eyebrow 31 HP:0000574
15 short stature 31 HP:0004322
16 osteoporosis 31 HP:0000939
17 full cheeks 31 HP:0000293
18 long philtrum 31 HP:0000343
19 micrognathia 31 HP:0000347
20 patent ductus arteriosus 31 HP:0001643
21 epicanthus 31 HP:0000286
22 wormian bones 31 HP:0002645
23 pathologic fracture 31 HP:0002756
24 cryptorchidism 31 HP:0000028
25 telecanthus 31 HP:0000506
26 hypospadias 31 HP:0000047
27 downslanted palpebral fissures 31 HP:0000494
28 conductive hearing impairment 31 HP:0000405
29 intestinal malrotation 31 occasional (7.5%) HP:0002566
30 long eyelashes 31 HP:0000527
31 synophrys 31 HP:0000664
32 large earlobe 31 HP:0009748
33 wide nose 31 HP:0000445
34 kyphoscoliosis 31 HP:0002751
35 renal cyst 31 HP:0000107
36 biconcave vertebral bodies 31 HP:0004586
37 dislocated radial head 31 HP:0003083
38 hirsutism 31 HP:0001007
39 short nail 31 HP:0001799
40 premature loss of teeth 31 HP:0006480
41 vertebral compression fractures 31 HP:0002953
42 osteolytic defects of the phalanges of the hand 31 HP:0009771
43 basilar impression 31 HP:0005758
44 absent frontal sinuses 31 HP:0002688
45 elongated sella turcica 31 HP:0005463
46 tall lumbar vertebral bodies 31 HP:0008421
47 cervical instability 31 HP:0008462
48 crowded carpal bones 31 HP:0006180
49 abnormal cardiac septum morphology 31 HP:0001671
50 foot acroosteolysis 31 HP:0001842

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

43 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.46 FLNC GLI3 HES5 HES7 JAG1 NOTCH1
2 mortality/aging MP:0010768 10.41 CR2 DLL3 FBXW7 FLNA FLNB FLNC
3 cardiovascular system MP:0005385 10.38 FBXW7 FLNA FLNB FLNC GLI3 JAG1
4 homeostasis/metabolism MP:0005376 10.37 NOTCH4 RBPJ RUNX2 TNFSF11 CR2 FBXW7
5 cellular MP:0005384 10.34 FBXW7 FLNA FLNB GLI3 HES5 JAG1
6 craniofacial MP:0005382 10.33 FLNB GLI3 HES5 JAG1 NOTCH1 NOTCH2
7 embryo MP:0005380 10.32 NOTCH3 NOTCH4 RBPJ DLL3 FBXW7 GLI3
8 endocrine/exocrine gland MP:0005379 10.27 FBXW7 GLI3 HES5 JAG1 NOTCH1 NOTCH2
9 hematopoietic system MP:0005397 10.24 JAG1 NOTCH1 NOTCH2 CR2 FBXW7 FLNA
10 nervous system MP:0003631 10.22 NOTCH3 NOTCH4 RBPJ RUNX2 DLL3 FBXW7
11 integument MP:0010771 10.21 FBXW7 FLNC GLI3 JAG1 NOTCH1 NOTCH2
12 digestive/alimentary MP:0005381 10.19 FBXW7 FLNA GLI3 JAG1 NOTCH1 NOTCH2
13 muscle MP:0005369 10.11 DLL3 FLNC JAG1 NOTCH1 NOTCH2 NOTCH3
14 normal MP:0002873 10.07 FBXW7 FLNA GLI3 JAG1 NOTCH1 NOTCH2
15 limbs/digits/tail MP:0005371 10.04 RUNX2 TNFSF11 DLL3 FLNB GLI3 HES7
16 hearing/vestibular/ear MP:0005377 10.02 DLL3 GLI3 HES5 JAG1 NOTCH1 NOTCH3
17 reproductive system MP:0005389 9.96 NOTCH3 PKDREJ RBPJ RUNX2 DLL3 FLNA
18 respiratory system MP:0005388 9.93 FBXW7 FLNA FLNB FLNC GLI3 HES5
19 neoplasm MP:0002006 9.91 FBXW7 NOTCH1 NOTCH2 NOTCH3 RBPJ TNFSF11
20 renal/urinary system MP:0005367 9.87 CR2 GLI3 JAG1 NOTCH1 NOTCH2 NOTCH3
21 skeleton MP:0005390 9.73 DLL3 FLNA FLNB GLI3 HES7 JAG1
22 vision/eye MP:0005391 9.4 HES5 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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


# 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:


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

Search NIH Clinical Center for Hajdu-Cheney Syndrome

Cochrane evidence based reviews: acro-osteolysis

Genetic Tests for Hajdu-Cheney Syndrome

Genetic tests related to Hajdu-Cheney Syndrome:

# Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome 28 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

38
Kidney, Bone, Heart, Eye, Spinal Cord

Publications for Hajdu-Cheney Syndrome

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 97)
# Title Authors Year
1
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. ( 29176149 )
2017
2
Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature. ( 29242787 )
2017
3
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. ( 29103128 )
2017
4
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. ( 28600213 )
2017
5
Bone structural characteristics and response to bisphosphonate treatment in children with Hajdu-Cheney Syndrome. ( 28938420 )
2017
6
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. ( 28941602 )
2017
7
Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. ( 28592489 )
2017
8
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome. ( 28856714 )
2017
9
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
10
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. ( 28040705 )
2016
11
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. ( 27592446 )
2016
12
Hajdu Cheney Syndrome. ( 27042504 )
2016
13
Hajdu-Cheney syndrome - a rare cause of micrognathia. ( 27488012 )
2016
14
Poster 315 Complications Associated with Hajdu-Cheney Syndrome: A Case Report. ( 27673071 )
2016
15
Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome. ( 27857819 )
2016
16
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. ( 26894198 )
2016
17
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. ( 27312922 )
2016
18
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. ( 27241678 )
2016
19
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
20
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. ( 25696021 )
2015
21
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. ( 26400009 )
2015
22
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. ( 26184537 )
2015
23
Hajdu-Cheney syndrome: a case report with review of literature. ( 25426244 )
2014
24
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation. ( 24608068 )
2014
25
Hajdu-Cheney syndrome: a review. ( 25491639 )
2014
26
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. ( 24641753 )
2014
27
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome. ( 23566664 )
2013
28
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. ( 23970057 )
2013
29
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. ( 23117206 )
2013
30
A case report of anesthesia for a child with Hajdu-Cheney syndrome. ( 23728363 )
2013
31
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. ( 24265536 )
2013
32
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
33
Hajdu-Cheney syndrome with ventricular septal defect. ( 23684141 )
2013
34
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. ( 23389697 )
2013
35
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. ( 24010868 )
2013
36
One-bone forearm procedure for Hajdu-Cheney syndrome: a case report. ( 24426971 )
2013
37
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
38
A girl with Hajdu-Cheney syndrome and premature ovarian failure. ( 22570971 )
2012
39
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. ( 22749662 )
2012
40
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. ( 21712856 )
2012
41
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. ( 21681853 )
2011
42
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. ( 21488202 )
2011
43
Hajdu-Cheney syndrome with severe dural ectasia. ( 21337686 )
2011
44
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. ( 21378985 )
2011
45
Genetics: New data on Hajdu-Cheney syndrome turns up bone research a NOTCH. ( 21502983 )
2011
46
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. ( 21671395 )
2011
47
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. ( 20158625 )
2009
48
Anesthesia for a child with Hajdu-Cheney syndrome. ( 19646007 )
2009
49
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. ( 18815778 )
2009
50
A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus. ( 18727725 )
2009

Variations for Hajdu-Cheney Syndrome

ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH2 NOTCH2, 1-BP DEL, 6272T deletion Pathogenic
2 NOTCH2 NOTCH2, 1-BP DEL, 6460T deletion Pathogenic
3 NOTCH2 NM_024408.3(NOTCH2): c.6622C> T (p.Gln2208Ter) single nucleotide variant Pathogenic rs387906746 GRCh37 Chromosome 1, 120458723: 120458723
4 NOTCH2 NOTCH2, TYR2373TER single nucleotide variant Pathogenic
5 NOTCH2 NM_024408.3(NOTCH2): c.6949C> T (p.Gln2317Ter) single nucleotide variant Pathogenic rs387906747 GRCh37 Chromosome 1, 120458396: 120458396
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
9 NOTCH2 NM_024408.3(NOTCH2): c.5345delA (p.Asp1782Alafs) deletion Pathogenic GRCh37 Chromosome 1, 120462986: 120462986
10 NOTCH2 NM_024408.3(NOTCH2): c.6449_6450delCT (p.Pro2150Argfs) deletion Pathogenic GRCh37 Chromosome 1, 120458895: 120458896

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 KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 FLNA FLNB FLNC NOTCH1 NOTCH2 NOTCH3
2
Show member pathways
13.23 FLNA FLNB FLNC NOTCH1 NOTCH2 NOTCH3
3
Show member pathways
12.9 HES5 HES7 JAG1 NOTCH1 NOTCH2 NOTCH3
4
Show member pathways
12.77 FBXW7 HES5 JAG1 NOTCH1 NOTCH2 NOTCH3
5 12.73 DLL3 GLI3 HES5 JAG1 NOTCH1 NOTCH2
6
Show member pathways
12.64 DLL3 HES5 JAG1 NOTCH1 NOTCH2 NOTCH3
7
Show member pathways
12.56 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 RBPJ
8
Show member pathways
12.53 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
9 12.48 NOTCH1 NOTCH2 NOTCH3 NOTCH4
10 12.41 NOTCH1 NOTCH2 NOTCH3 NOTCH4
11
Show member pathways
12.19 DLL3 FBXW7 HES5 JAG1 NOTCH1 NOTCH2
12
Show member pathways
12.14 FBXW7 JAG1 NOTCH1 RBPJ
13 12.13 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
14
Show member pathways
12.07 HES5 JAG1 NOTCH1 NOTCH2 RBPJ
15
Show member pathways
12.06 NOTCH1 NOTCH2 NOTCH3 NOTCH4
16 12.06 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
17
Show member pathways
11.99 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
18 11.95 NOTCH1 NOTCH2 NOTCH3 NOTCH4
19 11.94 NOTCH1 NOTCH2 NOTCH3 NOTCH4
20 11.8 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
21 11.74 FLNA FLNB FLNC
22 11.71 DLL3 HES5 NOTCH1 NOTCH2 NOTCH3 NOTCH4
23 11.46 NOTCH1 RBPJ RUNX2
24 11.44 JAG1 NOTCH1 RBPJ
25 11.19 FBXW7 NOTCH1 NOTCH2 NOTCH4 RBPJ
26 10.99 DLL3 JAG1 NOTCH1
27 10.87 JAG1 NOTCH1
28 10.66 HES7 NOTCH1
29
Show member pathways
10.62 FBXW7 NOTCH1
30 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:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.33 FLNA FLNB FLNC
2 receptor complex GO:0043235 9.26 CR2 NOTCH1 NOTCH2 NOTCH3
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 68)
# Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 9.93 HES5 NOTCH1 RBPJ RUNX2
2 animal organ morphogenesis GO:0009887 9.91 JAG1 NOTCH2 TNFSF11
3 regulation of cell migration GO:0030334 9.88 FLNA JAG1 NOTCH1
4 keratinocyte differentiation GO:0030216 9.88 JAG1 NOTCH1 RBPJ
5 transcription initiation from RNA polymerase II promoter GO:0006367 9.88 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ RUNX2
6 forebrain development GO:0030900 9.87 GLI3 NOTCH1 NOTCH3
7 camera-type eye development GO:0043010 9.86 GLI3 HES5 JAG1
8 positive regulation of osteoblast differentiation GO:0045669 9.85 GLI3 JAG1 RUNX2
9 somitogenesis GO:0001756 9.83 DLL3 HES7 RBPJ
10 neural tube development GO:0021915 9.83 GLI3 HES5 NOTCH1
11 regulation of cell differentiation GO:0045595 9.81 GLI3 HES5 RUNX2
12 positive regulation of Notch signaling pathway GO:0045747 9.81 HES5 JAG1 NOTCH1
13 positive regulation of BMP signaling pathway GO:0030513 9.79 HES5 NOTCH1 RBPJ
14 hemopoiesis GO:0030097 9.77 JAG1 NOTCH2 NOTCH4 RBPJ RUNX2
15 neuron fate commitment GO:0048663 9.76 GLI3 NOTCH1 NOTCH3
16 negative regulation of ossification GO:0030279 9.74 NOTCH1 RBPJ
17 negative regulation of smoothened signaling pathway GO:0045879 9.74 GLI3 RUNX2
18 positive regulation of neuroblast proliferation GO:0002052 9.74 GLI3 NOTCH1
19 positive regulation of Ras protein signal transduction GO:0046579 9.74 NOTCH1 NOTCH2
20 positive regulation of chondrocyte differentiation GO:0032332 9.73 GLI3 RUNX2
21 negative regulation of neurogenesis GO:0050768 9.73 DLL3 NOTCH1
22 positive regulation of JAK-STAT cascade GO:0046427 9.73 HES5 NOTCH1
23 cell junction assembly GO:0034329 9.73 FLNA FLNC
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 NOTCH1 RBPJ
25 regulation of epithelial cell proliferation GO:0050678 9.72 HES5 NOTCH1
26 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 NOTCH1 RBPJ
27 inflammatory response to antigenic stimulus GO:0002437 9.72 NOTCH1 RBPJ
28 neuronal stem cell population maintenance GO:0097150 9.72 HES5 JAG1 NOTCH1
29 negative regulation of neuron differentiation GO:0045665 9.72 GLI3 HES5 JAG1 NOTCH1 NOTCH3
30 endothelial cell differentiation GO:0045446 9.71 JAG1 NOTCH4
31 response to muramyl dipeptide GO:0032495 9.71 JAG1 NOTCH1
32 negative regulation of oligodendrocyte differentiation GO:0048715 9.71 HES5 NOTCH1
33 cardiac septum morphogenesis GO:0060411 9.71 JAG1 NOTCH1
34 cell fate determination GO:0001709 9.71 JAG1 NOTCH2 NOTCH4
35 cardiac left ventricle morphogenesis GO:0003214 9.7 NOTCH1 RBPJ
36 Notch receptor processing GO:0007220 9.7 JAG1 NOTCH3 NOTCH4
37 inner ear auditory receptor cell differentiation GO:0042491 9.69 HES5 JAG1
38 negative regulation of stem cell differentiation GO:2000737 9.69 HES5 JAG1 NOTCH1
39 negative regulation of endothelial cell differentiation GO:0045602 9.68 JAG1 NOTCH4
40 astrocyte differentiation GO:0048708 9.68 HES5 NOTCH1
41 forebrain radial glial cell differentiation GO:0021861 9.68 GLI3 HES5
42 regulation of somitogenesis GO:0014807 9.67 HES7 NOTCH1
43 regulation of inner ear auditory receptor cell differentiation GO:0045607 9.67 HES5 NOTCH1
44 pulmonary valve morphogenesis GO:0003184 9.67 JAG1 NOTCH1 NOTCH2
45 interleukin-4 secretion GO:0072602 9.66 NOTCH1 RBPJ
46 endocardium development GO:0003157 9.65 NOTCH1 RBPJ
47 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.65 NOTCH1 RBPJ
48 positive regulation of transcription of Notch receptor target GO:0007221 9.65 NOTCH1 NOTCH4 RBPJ
49 compartment pattern specification GO:0007386 9.64 DLL3 NOTCH1
50 negative regulation of cell differentiation GO:0045596 9.63 GLI3 JAG1 NOTCH1 NOTCH3 NOTCH4 RBPJ

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.62 FLNA HES5 HES7 RBPJ
2 receptor activity GO:0004872 9.56 NOTCH1 NOTCH2 NOTCH3 NOTCH4
3 chromatin binding GO:0003682 9.55 GLI3 HES5 NOTCH1 RBPJ RUNX2
4 calcium ion binding GO:0005509 9.5 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
5 Notch binding GO:0005112 8.8 DLL3 JAG1 NOTCH1

Sources for Hajdu-Cheney Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....