MCID: HJD001
MIFTS: 58

Hajdu-Cheney Syndrome malady

Categories: Genetic diseases (common), Bone diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

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Aliases & Descriptions for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 52 11 24 25 70 27 12 39 13 68
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 24 25 70
Arthrodentoosteodysplasia 24 25 70
Cheney Syndrome 24 25 70
Hjcys 24 25 70
Acroosteolysis Dominant Type 25 68
Hereditary Osteodysplasia with Acro-Osteolysis 25
Cranioskeletal Dysplasia with Acro-Osteolysis 25
 
Serpentine Fibula-Polycystic Kidney Syndrome 25
Serpentine Fibula Polycystic Kidney Syndrome 68
Arthro-Dento-Osteo Dysplasia 25
Familial Osteodysplasia 25
Acro-Osteolysis 39
Sfpks 25
Hcs 70

Characteristics:

HPO:

64
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset
hajdu-cheney syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 102500
Disease Ontology11 DOID:2736
SNOMED-CT62 27201004, 63122002

Summaries for Hajdu-Cheney Syndrome

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OMIM:52 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 premature aging syndrome, penttinen type, and has symptoms including intestinal malrotation, osteolytic defects of the phalanges of the hand and inguinal hernia. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch 2), and among its related pathways are Th2 Differentiation Pathway and MicroRNAs in cancer. Affiliated tissues include bone, kidney and heart, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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:70 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

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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
1idiopathic phalangeal acro-osteolysis12.1
2premature aging syndrome, penttinen type11.5
3acroosteolysis dominant type11.3
4singleton-merten syndrome 111.1
5singleton-merten syndrome 211.1
6penttinen-aula syndrome11.1
7van bogaert-hozay syndrome11.1
8hypotonia-cystinuria syndrome11.0
9osteodysplasia, familial, anderson type10.8
10hemicrania continua10.8
11hemochromatosis10.8
12restrictive dermopathy, lethal10.6LMNA, ZMPSTE24
13osteoporosis10.5
14proliferative type fibrocystic change of breast10.5LMNA, ZMPSTE24
15tbc1d24-related disorders10.5DLL3, HES7
16reynolds syndrome10.5LMNA, ZMPSTE24
17mirage syndrome10.4JAG1, NOTCH1, NOTCH2
18mixed receptive-expressive language disorder10.4NOTCH3, NOTCH4
19cervicitis10.3
20mast-cell sarcoma10.3NOTCH3, NOTCH4
21oxyphilic adenoma10.3NOTCH2, NOTCH3
22hutchinson-gilford progeria10.3LMNA, ZMPSTE24
23dyserythropoietic anemia, congenital, type ii10.3JAG1, NOTCH1, NOTCH2
24neuritis10.3JAG1, NOTCH1, NOTCH3
25syringomyelia10.3
26trench fever10.2NOTCH1, NOTCH3, NOTCH4
27mandibuloacral dysplasia10.2LMNA, ZMPSTE24
28hydrocephalus10.2
29cystic kidney disease10.2
30interstitial cystitis10.1JAG1, NOTCH3, RBPJ
31boomerang dysplasia10.1FLNA, FLNB
32testicular trophoblastic tumor10.1FLNA, JAG1, NOTCH1
33lateral meningocele syndrome10.0
34premature ovarian failure10.0
35arthritis10.0
36glomerulonephritis10.0
37osteomyelitis10.0
38meningocele10.0
39arachnoiditis10.0
40ventricular septal defect10.0
41periodontitis10.0
42neuropathy10.0
43arachnoid cysts10.0
44growth hormone deficiency10.0
45syringohydromyelia10.0
46intermittent squint9.9DLL3, HES7, RUNX2
47tetanus9.9
48atrioventricular septal defect9.8FLNA, FLNB, FLNC
49neuroblastoma9.8
50cardiomyopathy9.8

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



Diseases related to hajdu-cheney syndrome

Symptoms & Phenotypes for Hajdu-Cheney Syndrome

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Symptoms by clinical synopsis from OMIM:

102500

Clinical features from OMIM:

102500

Human phenotypes related to Hajdu-Cheney Syndrome:

 64 (show all 50)
id Description HPO Frequency HPO Source Accession
1 intestinal malrotation64 rare (5%) HP:0002566
2 osteolytic defects of the phalanges of the hand64 HP:0009771
3 inguinal hernia64 HP:0000023
4 cryptorchidism64 HP:0000028
5 hypospadias64 HP:0000047
6 renal cyst64 HP:0000107
7 high palate64 HP:0000218
8 hydrocephalus64 HP:0000238
9 coarse facial features64 HP:0000280
10 epicanthus64 HP:0000286
11 full cheeks64 HP:0000293
12 long philtrum64 HP:0000343
13 micrognathia64 HP:0000347
14 low-set ears64 HP:0000369
15 conductive hearing impairment64 HP:0000405
16 wide nose64 HP:0000445
17 anteverted nares64 HP:0000463
18 short neck64 HP:0000470
19 downslanted palpebral fissures64 HP:0000494
20 telecanthus64 HP:0000506
21 long eyelashes64 HP:0000527
22 thick eyebrow64 HP:0000574
23 synophrys64 HP:0000664
24 dental malocclusion64 HP:0000689
25 osteopenia64 HP:0000938
26 osteoporosis64 HP:0000939
27 hirsutism64 HP:0001007
28 joint laxity64 HP:0001388
29 failure to thrive64 HP:0001508
30 umbilical hernia64 HP:0001537
31 patent ductus arteriosus64 HP:0001643
32 abnormality of the cardiac septa64 HP:0001671
33 short nail64 HP:0001799
34 foot acroosteolysis64 HP:0001842
35 wormian bones64 HP:0002645
36 absent frontal sinuses64 HP:0002688
37 kyphoscoliosis64 HP:0002751
38 pathologic fracture64 HP:0002756
39 genu valgum64 HP:0002857
40 vertebral compression fractures64 HP:0002953
41 dislocated radial head64 HP:0003083
42 short stature64 HP:0004322
43 biconcave vertebral bodies64 HP:0004586
44 elongated sella turcica64 HP:0005463
45 basilar impression64 HP:0005758
46 crowded carpal bones64 HP:0006180
47 premature loss of teeth64 HP:0006480
48 tall lumbar vertebral bodies64 HP:0008421
49 cervical instability64 HP:0008462
50 large earlobe64 HP:0009748

UMLS symptoms related to Hajdu-Cheney Syndrome:


joint laxity

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

41 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4GLI3, LMNA, NOTCH1, NOTCH2, RBPJ
2MP:00053779.3DLL3, GLI3, JAG1, LMNA, NOTCH1, NOTCH3
3MP:00053718.5DLL3, FLNB, GLI3, HES7, LMNA, RUNX2
4MP:00053808.3DLL3, GLI3, HES7, JAG1, NOTCH1, NOTCH2
5MP:00053707.7FLNA, JAG1, LMNA, NOTCH1, NOTCH2, RUNX2
6MP:00053697.7DLL3, FLNC, JAG1, LMNA, NOTCH1, NOTCH2
7MP:00053917.7DLL3, FLNA, GLI3, JAG1, LMNA, NOTCH1
8MP:00053867.6DLL3, FLNA, FLNB, FLNC, JAG1, LMNA
9MP:00107717.4FLNC, GLI3, JAG1, LMNA, NOTCH1, NOTCH2
10MP:00028737.4FLNA, JAG1, LMNA, NOTCH1, NOTCH2, NOTCH3
11MP:00053897.4DLL3, FLNA, GLI3, IZUMO1, LMNA, NOTCH2
12MP:00053827.4DLL3, FLNA, FLNB, GLI3, JAG1, LMNA
13MP:00053677.4GLI3, JAG1, LMNA, NOTCH1, NOTCH2, NOTCH3
14MP:00053887.2FLNA, FLNB, FLNC, GLI3, LMNA, NOTCH1
15MP:00053877.2FLNA, LMNA, NOTCH1, NOTCH2, NOTCH3, RBPJ
16MP:00053797.2GLI3, JAG1, LMNA, NOTCH1, NOTCH2, NOTCH3
17MP:00053907.1DLL3, FLNA, FLNB, GLI3, HES7, JAG1
18MP:00053817.1FLNA, GLI3, JAG1, LMNA, NOTCH1, NOTCH2
19MP:00053976.9FLNA, JAG1, LMNA, NOTCH1, NOTCH2, NOTCH3
20MP:00053766.4FLNA, FLNB, GLI3, JAG1, LMNA, NOTCH1
21MP:00053846.2FLNA, FLNB, GLI3, JAG1, LMNA, NOTCH1
22MP:00036316.2DLL3, FLNA, FLNB, GLI3, JAG1, LMNA
23MP:00107685.1DLL3, FLNA, FLNB, FLNC, GLI3, HES7
24MP:00053855.0FLNA, FLNB, FLNC, GLI3, JAG1, LMNA
25MP:00053784.7DLL3, FLNA, FLNB, FLNC, GLI3, HES7

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Zoledronic acidapproved290118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
Anhydrous Zoledronic Acid
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
DB00399
 
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
2
Pamidronateapproved4440391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium
3Diphosphonates446
4Bone Density Conservation Agents3266

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bisphosphonate Therapy in MONA Spectrum DisorderCompletedNCT02823925

Search 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 Syndrome27 24 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

36
Bone, Kidney, Heart, Eye, Spinal cord

Publications for Hajdu-Cheney Syndrome

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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Hajdu-Cheney syndrome - a rare cause of micrognathia. (27488012)
2016
2
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. (28040705)
2016
3
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. (27241678)
2016
4
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. (26894198)
2016
5
Poster 315 Complications Associated with Hajdu-Cheney Syndrome: A Case Report. (27673071)
2016
6
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. (27592446)
2016
7
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. (27312922)
2016
8
Hajdu Cheney Syndrome. (27042504)
2016
9
Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome. (27857819)
2016
10
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. (26400009)
2015
11
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. (26184537)
2015
12
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. (25696021)
2015
13
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
14
Hajdu-Cheney syndrome: a case report with review of literature. (25426244)
2014
15
Hajdu-Cheney syndrome: a review. (25491639)
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
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
19
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. (23389697)
2013
20
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. (24265536)
2013
21
A case report of anesthesia for a child with Hajdu-Cheney syndrome. (23728363)
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
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
25
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
26
Hajdu-Cheney syndrome with ventricular septal defect. (23684141)
2013
27
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome. (23566664)
2013
28
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
2012
29
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
30
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
31
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. (22749662)
2012
32
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
33
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
34
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
35
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
36
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. (21681853)
2011
37
Genetics: New data on Hajdu-Cheney syndrome turns up bone research a NOTCH. (21502983)
2011
38
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
39
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
40
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. (18815778)
2009
41
A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus. (18727725)
2009
42
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
43
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up. (17874031)
2008
44
Periodontitis associated with Hajdu-Cheney syndrome. (17760556)
2007
45
Hajdu-Cheney syndrome: report of a case. (18001156)
2007
46
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. (17159511)
2007
47
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome. (17103298)
2007
48
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
49
Hajdu-Cheney syndrome in a 19-year-old man. (17229668)
2006
50
Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. (16370291)
2005

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, 6272TdeletionPathogenicChr na, -1: -1
2NOTCH2NOTCH2, 1-BP DEL, 6460TdeletionPathogenicChr na, -1: -1
3NOTCH2NM_024408.3(NOTCH2): c.6622C> T (p.Gln2208Ter)SNVPathogenicrs387906746GRCh37Chr 1, 120458723: 120458723
4NOTCH2NOTCH2, TYR2373TERSNVPathogenicChr na, -1: -1
5NOTCH2NM_024408.3(NOTCH2): c.6949C> T (p.Gln2317Ter)SNVPathogenicrs387906747GRCh37Chr 1, 120458396: 120458396
6NOTCH2NM_024408.3(NOTCH2): c.6895G> T (p.Glu2299Ter)SNVPathogenicrs387906748GRCh37Chr 1, 120458450: 120458450
7NOTCH2NM_024408.3(NOTCH2): c.7165C> T (p.Gln2389Ter)SNVPathogenicrs387906749GRCh37Chr 1, 120458180: 120458180
8NOTCH2NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter)SNVPathogenicrs312262801GRCh37Chr 1, 120460308: 120460308

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 18)
idSuper pathwaysScoreTop Affiliating Genes
19.6JAG1, NOTCH1, RBPJ
29.4NOTCH1, NOTCH2, NOTCH3, NOTCH4
39.4NOTCH1, NOTCH2, NOTCH3, NOTCH4
49.4NOTCH1, NOTCH2, NOTCH3, NOTCH4
59.4NOTCH1, NOTCH2, NOTCH3, NOTCH4
69.4NOTCH1, NOTCH2, NOTCH3, NOTCH4
7
Show member pathways
9.4JAG1, NOTCH1, NOTCH2, RBPJ
89.2NOTCH1, RBPJ, RUNX2
9
Show member pathways
9.2FLNA, FLNB, FLNC
10
Show member pathways
9.1JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
119.0NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
12
Show member pathways
9.0NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
138.9FLNA, FLNB, FLNC, LMNA
148.8DLL3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
15
Show member pathways
8.7JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
16
Show member pathways
8.5DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
178.5DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
18
Show member pathways
8.1FLNA, FLNB, FLNC, NOTCH1, NOTCH2, NOTCH3

GO Terms for genes affiliated with Hajdu-Cheney Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1MAML1-RBP-Jkappa- ICN1 complexGO:000219310.4NOTCH1, RBPJ
2receptor complexGO:00432359.7NOTCH1, NOTCH2, NOTCH3

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:000699810.8LMNA, ZMPSTE24
2compartment pattern specificationGO:000738610.7DLL3, NOTCH1
3negative regulation of neurogenesisGO:005076810.7DLL3, NOTCH1
4cardiac septum morphogenesisGO:006041110.7JAG1, NOTCH1
5distal tubule developmentGO:007201710.7JAG1, NOTCH1
6negative regulation of stem cell differentiationGO:200073710.7JAG1, NOTCH1
7neuronal stem cell population maintenanceGO:009715010.7JAG1, NOTCH1
8endothelial cell differentiationGO:004544610.6JAG1, NOTCH4
9auditory receptor cell fate commitmentGO:000991210.6NOTCH1, RBPJ
10cardiac left ventricle morphogenesisGO:000321410.6NOTCH1, RBPJ
11endocardium developmentGO:000315710.6NOTCH1, RBPJ
12endocardium morphogenesisGO:000316010.6NOTCH1, RBPJ
13epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.6NOTCH1, RBPJ
14inflammatory response to antigenic stimulusGO:000243710.6NOTCH1, RBPJ
15interleukin-4 secretionGO:007260210.6NOTCH1, RBPJ
16negative regulation of ossificationGO:003027910.6NOTCH1, RBPJ
17regulation of somitogenesisGO:001480710.6HES7, NOTCH1
18positive regulation of cardiac muscle cell proliferationGO:006004510.6NOTCH1, RBPJ
19tissue regenerationGO:004224610.6NOTCH1, NOTCH2
20response to muramyl dipeptideGO:003249510.6JAG1, NOTCH1
21artery morphogenesisGO:004884410.6NOTCH3, RBPJ
22positive regulation of neuroblast proliferationGO:000205210.6GLI3, NOTCH1
23positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.5NOTCH1, RBPJ
24regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiationGO:000325610.5NOTCH1, RBPJ
25cell fate determinationGO:000170910.4JAG1, NOTCH2, NOTCH4
26pulmonary valve morphogenesisGO:000318410.4JAG1, NOTCH1, NOTCH2
27keratinocyte differentiationGO:003021610.4JAG1, NOTCH1, RBPJ
28Notch receptor processingGO:000722010.3JAG1, NOTCH3, NOTCH4
29forebrain developmentGO:003090010.3GLI3, NOTCH1, NOTCH3
30cell junction assemblyGO:003432910.3FLNA, FLNC
31neuron fate commitmentGO:004866310.3GLI3, NOTCH1, NOTCH3
32positive regulation of transcription of Notch receptor targetGO:000722110.2NOTCH1, NOTCH4, RBPJ
33negative regulation of smoothened signaling pathwayGO:004587910.2GLI3, RUNX2
34positive regulation of chondrocyte differentiationGO:003233210.2GLI3, RUNX2
35somitogenesisGO:000175610.2DLL3, HES7, RBPJ
36Notch signaling involved in heart developmentGO:006131410.1JAG1, NOTCH1, NOTCH2, RBPJ
37negative regulation of neuron differentiationGO:004566510.0GLI3, JAG1, NOTCH1, NOTCH3
38neuron differentiationGO:003018210.0NOTCH1, RBPJ, RUNX2
39skeletal system developmentGO:00015019.9DLL3, HES7, RUNX2
40regulation of cell migrationGO:00303349.9FLNA, JAG1, LMNA, NOTCH1
41ventricular trabecula myocardium morphogenesisGO:00032229.9NOTCH1, RBPJ
42regulation of cell proliferationGO:00421279.8GLI3, JAG1, NOTCH1, RBPJ
43positive regulation of osteoblast differentiationGO:00456699.7GLI3, JAG1, LMNA, RUNX2
44negative regulation of transcription from RNA polymerase II promoterGO:00001229.7GLI3, HES7, NOTCH1, NOTCH3, RBPJ
45transcription initiation from RNA polymerase II promoterGO:00063679.3NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
46negative regulation of transcription, DNA-templatedGO:00458929.3GLI3, HES7, NOTCH1, RBPJ, RUNX2
47negative regulation of cell differentiationGO:00455969.3GLI3, JAG1, NOTCH1, NOTCH3, NOTCH4, RBPJ
48Notch signaling pathwayGO:00072199.0DLL3, HES7, JAG1, NOTCH1, NOTCH2, NOTCH3
49hemopoiesisGO:00300978.6JAG1, NOTCH2, NOTCH4, RBPJ, RUNX2, TET2
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.1GLI3, JAG1, NOTCH1, NOTCH3, RBPJ, RUNX2

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

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:000511210.5DLL3, JAG1, NOTCH1
2calcium ion bindingGO:00055099.7DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
3chromatin bindingGO:00036829.6GLI3, NOTCH1, RBPJ, RUNX2
4receptor activityGO:00048729.4NOTCH1, NOTCH2, NOTCH3, NOTCH4
5protein bindingGO:00055155.1DLL3, FLNA, FLNB, FLNC, GLI3, IZUMO1

Sources for Hajdu-Cheney Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet