MCID: HJD001
MIFTS: 60

Hajdu-Cheney Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

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Aliases & Descriptions for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 50 11 23 24 13 68 25 12 37 66
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 23 24 68
Arthrodentoosteodysplasia 23 24 68
Cheney Syndrome 23 24 68
Hjcys 23 24 68
Serpentine Fibula Polycystic Kidney Syndrome 46 66
Acroosteolysis Dominant Type 24 66
Sfpks 46 24
 
Hereditary Osteodysplasia with Acro-Osteolysis 24
Cranioskeletal Dysplasia with Acro-Osteolysis 24
Serpentine Fibula-Polycystic Kidney Syndrome 24
Arthro-Dento-Osteo Dysplasia 24
Serpentine Fibula Syndrome 46
Familial Osteodysplasia 24
Acro-Osteolysis 37
Hcs 68

Characteristics:

HPO:

62
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset
hajdu-cheney syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 102500
Disease Ontology11 DOID:2736
SNOMED-CT60 27201004, 63122002

Summaries for Hajdu-Cheney Syndrome

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OMIM:50 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 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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, bone and heart, and related mouse phenotypes are hearing/vestibular/ear and liver/biliary system.

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.

UniProtKB/Swiss-Prot:68 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:69 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 54)
idRelated DiseaseScoreTop Affiliating Genes
1idiopathic phalangeal acro-osteolysis12.2
2acroosteolysis dominant type11.8
3van bogaert-hozay syndrome11.2
4penttinen-aula syndrome11.2
5hypotonia-cystinuria syndrome11.2
6osteodysplasia, familial, anderson type11.0
7hemochromatosis10.9
8premature aging syndrome, penttinen type10.8
9osteoporosis10.6
10alagille syndrome 210.6NOTCH2, RNASEH2B
11tbc1d24-related disorders10.5DLL3, HES7
12mirage syndrome10.4JAG1, NOTCH1, NOTCH2
13cervicitis10.4
14syringomyelia10.4
15kidney disease10.4
16hemicrania continua10.3
17neuritis10.3JAG1, NOTCH1, NOTCH3
18dyserythropoietic anemia, congenital, type ii10.3JAG1, NOTCH1, NOTCH2
19mixed receptive-expressive language disorder10.3NOTCH3, NOTCH4
20melnick-needles syndrome10.3
21hydrocephalus10.3
22cystic kidney disease10.3
23trench fever10.3NOTCH1, NOTCH3, NOTCH4
24mast-cell sarcoma10.3NOTCH3, NOTCH4
25interstitial cystitis10.2JAG1, NOTCH3, RBPJ
26lateral meningocele syndrome10.2
27premature ovarian failure10.2
28arthritis10.2
29glomerulonephritis10.2
30osteomyelitis10.2
31meningocele10.2
32arachnoiditis10.2
33ventricular septal defect10.2
34diabetic ketoacidosis10.2
35periodontitis10.2
36neuropathy10.2
37polycystic kidney disease10.2
38arachnoid cysts10.2
39growth hormone deficiency10.2
40syringohydromyelia10.2
41testicular trophoblastic tumor10.1FLNA, JAG1, NOTCH1
42oxyphilic adenoma10.1NOTCH2, NOTCH3
43tetanus10.0
44intermittent squint10.0DLL3, HES7, RUNX2
45boomerang dysplasia10.0FLNA, FLNB
46syphilitic myelopathy10.0GLI3, RUNX2
47neuroblastoma9.9
48cardiomyopathy9.9
49atrioventricular septal defect9.9FLNA, FLNB, FLNC
50rheumatoid arthritis9.8

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



Diseases related to hajdu-cheney syndrome

Symptoms for Hajdu-Cheney Syndrome

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Symptoms by clinical synopsis from OMIM:

102500

Clinical features from OMIM:

102500

HPO human phenotypes related to Hajdu-Cheney Syndrome:

(show all 50)
id Description Frequency HPO Source Accession
1 intestinal malrotation rare (5%) HP:0002566
2 osteolytic defects of the phalanges of the hand HP:0009771
3 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 foot acroosteolysis 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

UMLS symptoms related to Hajdu-Cheney Syndrome:


joint laxity

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
zoledronate290118072-93-868740
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
Pamidronate4440391-99-94674
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bisphosphonate Therapy in MONA Spectrum DisorderCompletedNCT02823925

Search NIH Clinical Center for Hajdu-Cheney Syndrome


Cochrane evidence based reviews: acro-osteolysis

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 Syndrome25 23 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

34
Kidney, Bone, Heart, Eye, Spinal cord

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.6DLL3, GLI3, JAG1, NOTCH1, NOTCH3
2MP:00053708.7FLNA, JAG1, NOTCH1, NOTCH2, RUNX2, TET2
3MP:00053818.3FLNA, GLI3, JAG1, NOTCH1, NOTCH2, RBPJ
4MP:00107718.3FLNC, GLI3, JAG1, NOTCH1, NOTCH2, NOTCH3
5MP:00053828.3DLL3, FLNA, FLNB, GLI3, JAG1, NOTCH1
6MP:00053698.3DLL3, FLNC, JAG1, NOTCH1, NOTCH2, NOTCH3
7MP:00053808.1DLL3, GLI3, HES7, JAG1, NOTCH1, NOTCH2
8MP:00053678.0GLI3, JAG1, NOTCH1, NOTCH2, NOTCH3, RBPJ
9MP:00028737.9FLNA, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
10MP:00053897.9DLL3, FLNA, GLI3, IZUMO1, NOTCH2, NOTCH3
11MP:00053917.9DLL3, FLNA, GLI3, JAG1, NOTCH1, NOTCH2
12MP:00053797.7GLI3, JAG1, NOTCH1, NOTCH2, NOTCH3, RBPJ
13MP:00053887.7FLNA, FLNB, FLNC, GLI3, NOTCH1, NOTCH2
14MP:00053907.5DLL3, FLNA, FLNB, GLI3, HES7, JAG1
15MP:00053847.0FLNA, FLNB, GLI3, JAG1, NOTCH1, NOTCH2
16MP:00036316.9DLL3, FLNA, FLNB, GLI3, JAG1, NOTCH1
17MP:00053856.2FLNA, FLNB, FLNC, GLI3, JAG1, NOTCH1
18MP:00107685.9DLL3, FLNA, FLNB, FLNC, GLI3, HES7
19MP:00053785.1DLL3, FLNA, FLNB, FLNC, GLI3, HES7

Publications for Hajdu-Cheney Syndrome

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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Hajdu-Cheney syndrome - a rare cause of micrognathia. (27488012)
2016
2
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. (27241678)
2016
3
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. (26894198)
2016
4
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. (26400009)
2015
5
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. (26184537)
2015
6
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. (25696021)
2015
7
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
8
Hajdu-Cheney syndrome: a case report with review of literature. (25426244)
2014
9
Hajdu-Cheney syndrome: a review. (25491639)
2014
10
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation. (24608068)
2014
11
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
12
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. (23389697)
2013
13
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. (24265536)
2013
14
A case report of anesthesia for a child with Hajdu-Cheney syndrome. (23728363)
2013
15
One-bone forearm procedure for Hajdu-Cheney syndrome: a case report. (24426971)
2013
16
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. (23970057)
2013
17
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
2012
18
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
19
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
20
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
21
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
22
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
23
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
24
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
25
Periodontitis associated with Hajdu-Cheney syndrome. (17760556)
2007
26
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
27
Hajdu-Cheney syndrome (acro-osteolysis): a case report of dental interest. (12789155)
2003
28
Hajdu-Cheney syndrome and syringomyelia. Case report. (12507146)
2002
29
Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome. (12175120)
2002
30
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. (10968485)
2000
31
Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. (10620062)
1999
32
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (9220203)
1997
33
Severe Hajdu-Cheney syndrome with upper airway obstruction. (9188663)
1997
34
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome. (9184252)
1997
35
Syringomyelia associated with Hajdu-Cheney syndrome: case report. (8832682)
1996
36
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
37
Hajdu-Cheney syndrome. (8203959)
1994
38
Acro-osteolysis (Hajdu-Cheney syndrome) (8172752)
1994
39
Hajdu-Cheney syndrome in a 3 1/2 year old girl. (7945122)
1994
40
C.T. findings in the Hajdu-Cheney syndrome. (1870934)
1991
41
The Hajdu-Cheney syndrome: a case report and review of the literature. (2216599)
1990
42
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. (2347142)
1990
43
Genetics of the Hajdu-Cheney syndrome. (3606689)
1987
44
The Hajdu-Cheney syndrome. A review of the literature and report of 3 cases. (3920154)
1985
45
Acro-osteolysis in a patient with Hajdu-Cheney syndrome demonstrated by bone scintigraphy. (6509839)
1984
46
Hajdu-Cheney syndrome: rehabilitation after decompression of cervical spinal cord compromise. (6712442)
1984
47
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). (707523)
1978
48
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. (1249686)
1976
49
Acroosteolysis (Hajdu-Cheney syndrome). (4461055)
1974
50
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. (4699178)
1973

Variations for Hajdu-Cheney Syndrome

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Clinvar genetic disease variations for Hajdu-Cheney Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOTCH2NOTCH2, 1-BP DEL, 6272TdeletionPathogenic
2NOTCH2NOTCH2, 1-BP DEL, 6460TdeletionPathogenic
3NOTCH2NM_024408.3(NOTCH2): c.6622C> T (p.Gln2208Ter)single nucleotide variantPathogenicrs387906746GRCh37Chr 1, 120458723: 120458723
4NOTCH2NOTCH2, TYR2373TERsingle nucleotide variantPathogenic
5NOTCH2NM_024408.3(NOTCH2): c.6949C> T (p.Gln2317Ter)single nucleotide variantPathogenicrs387906747GRCh37Chr 1, 120458396: 120458396
6NOTCH2NM_024408.3(NOTCH2): c.6895G> T (p.Glu2299Ter)single nucleotide variantPathogenicrs387906748GRCh37Chr 1, 120458450: 120458450
7NOTCH2NM_024408.3(NOTCH2): c.7165C> T (p.Gln2389Ter)single nucleotide variantPathogenicrs387906749GRCh37Chr 1, 120458180: 120458180

Expression for genes affiliated with Hajdu-Cheney Syndrome

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

Pathways for genes affiliated with Hajdu-Cheney Syndrome

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

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.6JAG1, NOTCH1, RBPJ
29.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
39.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
4
Show member pathways
9.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
59.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
69.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
79.5NOTCH1, NOTCH2, NOTCH3, NOTCH4
8
Show member pathways
9.4JAG1, NOTCH1, NOTCH2, RBPJ
99.4NOTCH1, RBPJ, RUNX2
10
Show member pathways
9.3FLNA, FLNB, FLNC
11
Show member pathways
9.2JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
12
Show member pathways
9.1NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
139.1NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
148.9DLL3, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
15
Show member pathways
8.8JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
16
Show member pathways
8.6DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
178.6DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
18
Show member pathways
8.6DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
19
Show member pathways
8.3FLNA, FLNB, FLNC, NOTCH1, NOTCH2, NOTCH3
208.1DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4

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:000219310.3NOTCH1, RBPJ
2receptor complexGO:00432359.8NOTCH1, NOTCH2, NOTCH3

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1distal tubule developmentGO:007201710.7JAG1, NOTCH1
2negative regulation of stem cell differentiationGO:200073710.7JAG1, NOTCH1
3endocardium developmentGO:000315710.6NOTCH1, RBPJ
4endocardium morphogenesisGO:000316010.6NOTCH1, RBPJ
5auditory receptor cell fate commitmentGO:000991210.6NOTCH1, RBPJ
6tissue regenerationGO:004224610.6NOTCH1, NOTCH2
7response to muramyl dipeptideGO:003249510.6JAG1, NOTCH1
8regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiationGO:000325610.6NOTCH1, RBPJ
9interleukin-4 secretionGO:007260210.6NOTCH1, RBPJ
10positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.6NOTCH1, RBPJ
11endothelial cell differentiationGO:004544610.6JAG1, NOTCH4
12epithelial to mesenchymal transition involved in endocardial cushion formationGO:000319810.6NOTCH1, RBPJ
13positive regulation of cardiac muscle cell proliferationGO:006004510.5NOTCH1, RBPJ
14negative regulation of ossificationGO:003027910.5NOTCH1, RBPJ
15cardiac left ventricle morphogenesisGO:000321410.5NOTCH1, RBPJ
16cardiac septum morphogenesisGO:006041110.5JAG1, NOTCH1
17compartment pattern specificationGO:000738610.5DLL3, NOTCH1
18inflammatory response to antigenic stimulusGO:000243710.5NOTCH1, RBPJ
19neuronal stem cell population maintenanceGO:009715010.5JAG1, NOTCH1
20artery morphogenesisGO:004884410.4NOTCH3, RBPJ
21negative regulation of neurogenesisGO:005076810.4DLL3, NOTCH1
22pulmonary valve morphogenesisGO:000318410.4JAG1, NOTCH1, NOTCH2
23ventricular trabecula myocardium morphogenesisGO:000322210.3NOTCH1, RBPJ
24positive regulation of transcription of Notch receptor targetGO:000722110.3NOTCH1, NOTCH4, RBPJ
25cell junction assemblyGO:003432910.3FLNA, FLNC
26regulation of somitogenesisGO:001480710.3HES7, NOTCH1
27neuron fate commitmentGO:004866310.2GLI3, NOTCH1, NOTCH3
28positive regulation of chondrocyte differentiationGO:003233210.2GLI3, RUNX2
29negative regulation of smoothened signaling pathwayGO:004587910.2GLI3, RUNX2
30keratinocyte differentiationGO:003021610.2JAG1, NOTCH1, RBPJ
31somitogenesisGO:000175610.1DLL3, HES7, RBPJ
32Notch receptor processingGO:000722010.1JAG1, NOTCH3, NOTCH4
33positive regulation of neuroblast proliferationGO:000205210.0GLI3, NOTCH1
34cell fate determinationGO:00017099.9JAG1, NOTCH2, NOTCH4
35Notch signaling involved in heart developmentGO:00613149.9JAG1, NOTCH1, NOTCH2, RBPJ
36skeletal system developmentGO:00015019.8DLL3, HES7, RUNX2
37negative regulation of neuron differentiationGO:00456659.8GLI3, JAG1, NOTCH1, NOTCH3
38forebrain developmentGO:00309009.7GLI3, NOTCH1, NOTCH3
39regulation of cell migrationGO:00303349.7FLNA, JAG1, NOTCH1
40positive regulation of osteoblast differentiationGO:00456699.7GLI3, JAG1, RUNX2
41transcription initiation from RNA polymerase II promoterGO:00063679.7NOTCH1, NOTCH2, NOTCH3, NOTCH4, RBPJ
42regulation of cell proliferationGO:00421279.7GLI3, JAG1, NOTCH1, RBPJ
43neuron differentiationGO:00301829.4NOTCH1, RBPJ, RUNX2
44negative regulation of cell differentiationGO:00455969.1GLI3, JAG1, NOTCH1, NOTCH3, NOTCH4, RBPJ
45negative regulation of transcription, DNA-templatedGO:00458929.0GLI3, HES7, NOTCH1, RBPJ, RUNX2
46negative regulation of transcription from RNA polymerase II promoterGO:00001228.9GLI3, HES7, NOTCH1, NOTCH3, RBPJ
47Notch signaling pathwayGO:00072198.8DLL3, HES7, JAG1, NOTCH1, NOTCH2, NOTCH3
48hemopoiesisGO:00300978.7JAG1, NOTCH2, NOTCH4, RBPJ, RUNX2, TET2
49positive regulation of transcription from RNA polymerase II promoterGO:00459447.5GLI3, JAG1, NOTCH1, NOTCH3, RBPJ, RUNX2

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

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:000511210.3DLL3, JAG1, NOTCH1
2receptor activityGO:000487210.1NOTCH1, NOTCH2, NOTCH3, NOTCH4
3chromatin bindingGO:00036829.3GLI3, NOTCH1, RBPJ, RUNX2
4calcium ion bindingGO:00055099.2DLL3, JAG1, NOTCH1, NOTCH2, NOTCH3, NOTCH4
5protein bindingGO:00055154.5C7orf49, DLL3, FLNA, FLNB, FLNC, GLI3

Sources for Hajdu-Cheney Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet