MCID: HJD001
MIFTS: 57

Hajdu-Cheney Syndrome malady

Nephrological diseases, Bone diseases, Fetal diseases categories

Summaries for Hajdu-Cheney Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Hajdu-cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis. other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. most patients have normal intelligence. this condition is inherited in an autosomal dominant fashion and caused by mutations in the notch2 gene.  last updated: 11/4/2011

MalaCards: Hajdu-Cheney Syndrome, also known as acroosteolysis with osteoporosis and changes in skull and mandible, is related to osteoporosis and syringomyelia, and has symptoms including cataract/lens opacification, myopia and cleft palate without cleft lip/submucosal cleft palate/bifid uvula. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (notch 2), and among its related pathways are Dorso-ventral axis formation and Pre-NOTCH Processing in Golgi. Affiliated tissues include bone, kidney and skin, and related mouse phenotypes are muscle and liver/biliary system.

Wikipedia:63 Hajdu–Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Description from OMIM:46 102500,102400

Aliases & Classifications for Hajdu-Cheney Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Nephrological diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
hajdu-cheney syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

hajdu-cheney syndrome 8 9 42 20 22 46 10 48 60
acroosteolysis with osteoporosis and changes in skull and mandible 42 48
acroosteolysis dominant type 48 46
arthrodentoosteodysplasia 42 48
cheney syndrome 42 48
arthro-dento-ostéodysplasie 48
acrodentoosteodysplasia 48


External Ids:

Disease Ontology8 DOID:2736
NCIt39 C84745
SNOMED-CT56 27201004, 63122002
MESH via Orphanet35 C531695, C535663, D031845
ICD10 via Orphanet26 M89.5
SNOMED-CT via Orphanet57 63122002
UMLS via Orphanet61 C0917715, C2930971

Related Diseases for Hajdu-Cheney Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hajdu-Cheney Syndrome:



Diseases related to hajdu-cheney syndrome

Clinical Features for Hajdu-Cheney Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

102500,102400

Clinical synopsis from OMIM:

102400

Symptoms:

48 (show all 69)
  • cataract/lens opacification
  • myopia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • pectus carinatum
  • herniae
  • terminal broadening/clubbing of toes
  • coloboma of iris
  • flat cheek bones/malar hypoplasia
  • hyperextensible joints/articular hyperlaxity
  • bone pain
  • mutiple fractures/bone fragility
  • arnold-chiari anomaly
  • abnormal fingernails
  • coarse/thick hair
  • chronic skin infection/ulcerations/ulcers/cancrum
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • patella dislocation
  • bowed diaphysis/diaphyses/long bones
  • peripheral neuropathy
  • hydrocephaly
  • late puberty/hypogonadism/hypogenitalism
  • hypospadias/epispadias/bent penis
  • polycystic kidneys
  • patent ductus arteriosus
  • ventricular septal defect/interventricular communication
  • congenital cardiac anomaly/malformation/cardiopathy
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • mitral valve atresia/stenosis/narrowing
  • repeat respiratory infections
  • abnormal cry/voice/phonation disorder/nasal speech
  • hirsutism/hypertrichosis/increased body hair
  • dry/squaly skin/exfoliation
  • autosomal dominant inheritance
  • osteolysis/osteoclasia/bone destruction/erosions
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • distal phalangeal bones of toes hypoplasia/absence
  • short foot/brachydactyly of toes
  • terminal/third phalangeal bone of fingers hypoplasia
  • short hand/brachydactyly
  • hearing loss/hypoacusia/deafness
  • low set ears/posteriorly rotated ears
  • alveolysis/paraodontitis
  • long philtrum
  • microstomia/little mouth
  • frontal sinus agenesis/anomaly
  • hypertelorism
  • wormian bones
  • short stature/dwarfism/nanism
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • abnormal vertebral size/shape
  • scoliosis
  • short neck
  • anomalies of teeth and dentition
  • cleft lip and palate
  • downturned mouth
  • thin/retracted lips
  • anteverted nares/nostrils
  • broad nose/nasal bridge
  • thick/bushy eyebrows
  • dental malocclusion
  • hypoplastic mandibula/partial absence of the mandibula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • broad cheeks/cherub-like/cherubin face
  • coarse face
  • basilary impression/invagination/cranio-spinal malformation/platybasia
  • poorly ossified skull/calvarium

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hajdu-Cheney Syndrome

Drug clinical trials:

Search ClinicalTrials for Hajdu-Cheney Syndrome

Search NIH Clinical Center for Hajdu-Cheney Syndrome

Search CenterWatch for Hajdu-Cheney Syndrome

Genetic Tests for Hajdu-Cheney Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Hajdu-Cheney Syndrome:

id Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome20 22 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

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32MalaCards
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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

32
Bone, Kidney, Skin, Liver, Spinal cord

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5JAG1, NOTCH1, NOTCH2, DLL3
2MP:00053708.4NOTCH2, JAG1, FLNA, NOTCH1
3MP:00053918.3NOTCH1, DLL3, FLNA, NOTCH2, JAG1
4MP:00053818.2NOTCH2, NOTCH1, JAG1, FLNA
5MP:00053907.8FLNA, FLNB, NOTCH1, DLL3, JAG1
6MP:00053857.7NOTCH2, JAG1, FLNB, FLNA, NOTCH1
7MP:00053827.5NOTCH1, JAG1, FLNB, FLNA, DLL3, NOTCH2
8MP:00036317.4JAG1, NOTCH1, DLL3, NOTCH2, FLNA, FLNB
9MP:00053787.4DLL3, FLNA, FLNB, JAG1, NOTCH2, NOTCH1
10MP:00107687.3JAG1, FLNB, FLNA, DLL3, NOTCH1, NOTCH2

Publications for Hajdu-Cheney Syndrome

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Sources:
50PubMed
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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
2
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
3
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
4
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. (23389697)
2013
5
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. (24265536)
2013
6
Hajdu-Cheney syndrome with ventricular septal defect. (23684141)
2013
7
A case report of anesthesia for a child with Hajdu-Cheney syndrome. (23728363)
2013
8
One-bone forearm procedure for Hajdu-Cheney syndrome: a case report. (24426971)
2013
9
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
10
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
11
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
12
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
13
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
14
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
15
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. (21681853)
2011
16
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
17
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
18
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. (18815778)
2009
19
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
20
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up. (17874031)
2008
21
Periodontitis associated with Hajdu-Cheney syndrome. (17760556)
2007
22
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. (17159511)
2007
23
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome. (17103298)
2007
24
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
25
Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. (16370291)
2005
26
Proximal translation of the radius following arthroplasty of the distal radioulnar joint in Hajdu-Cheney syndrome. (12610494)
2003
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: evolution of phenotype and clinical problems. (11343321)
2001
31
Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. (10620062)
1999
32
Further evidence that the Hajdu-Cheney syndrome and the &quot;serpentine fibula-polycystic kidney syndrome&quot; are a single entity. (9714016)
1998
33
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (9220203)
1997
34
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome. (9184252)
1997
35
Syringohydromyelia in Hajdu-Cheney syndrome. (8598999)
1996
36
Kidney abnormalities in Hajdu-Cheney syndrome. (8971886)
1996
37
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
38
Acro-osteolysis (Hajdu-Cheney) syndrome: report of a case with abnormal tooth structure. (8680972)
1995
39
Acro-osteolysis (Hajdu-Cheney syndrome) (8172752)
1994
40
C.T. findings in the Hajdu-Cheney syndrome. (1870934)
1991
41
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. (2347142)
1990
42
High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome). (2365959)
1990
43
The Hajdu-Cheney syndrome: a case report and review of the literature. (2216599)
1990
44
Genetics of the Hajdu-Cheney syndrome. (3606689)
1987
45
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. (3527178)
1986
46
Acro-osteolysis in a patient with Hajdu-Cheney syndrome demonstrated by bone scintigraphy. (6509839)
1984
47
A genetic acro-osteolysis syndrome. A Hajdu-Cheney syndrome. (751470)
1978
48
Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome. (896350)
1977
49
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. (1249686)
1976
50
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic &quot;acro-osteolysis&quot; syndrome. (4699178)
1973

Genetic Variations for Hajdu-Cheney Syndrome

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Expression for genes affiliated with Hajdu-Cheney Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hajdu-Cheney Syndrome

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

Pathways for genes affiliated with Hajdu-Cheney Syndrome

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29KEGG, 53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology, 51QIAGEN, 52R&D Systems
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Pathways related to Hajdu-Cheney Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NOTCH2, NOTCH1
2
Hide members
9.5NOTCH2, NOTCH1
3
Hide members
9.5NOTCH2, NOTCH1
4
Hide members
9.3JAG1, NOTCH1
59.2FLNA, FLNB
69.1NOTCH2, NOTCH1, DLL3
79.0JAG1, NOTCH1, NOTCH2
8
Hide members
9.0NOTCH2, NOTCH1, JAG1
9
Hide members
9.0NOTCH2, NOTCH1, JAG1
10
Hide members
9.0JAG1, NOTCH1, NOTCH2
118.5JAG1, DLL3, NOTCH1, NOTCH2
128.5JAG1, DLL3, NOTCH1, NOTCH2
13
Hide members
8.5JAG1, DLL3, NOTCH1, NOTCH2
148.5NOTCH2, NOTCH1, DLL3, JAG1
15
Hide members
8.2FLNB, FLNA, NOTCH1, NOTCH2
16
Hide members
8.2NOTCH2, NOTCH1, FLNA, FLNB

Compounds for genes affiliated with Hajdu-Cheney Syndrome

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GO Terms for genes affiliated with Hajdu-Cheney Syndrome

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16Gene Ontology
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Cellular components related to Hajdu-Cheney Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.0NOTCH2NL, NOTCH2, NOTCH1, FLNA, JAG1

Biological processes related to Hajdu-Cheney Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cell fate determinationGO:0017099.7NOTCH2, JAG1
2compartment pattern specificationGO:0073869.7NOTCH1, DLL3
3distal tubule developmentGO:0720179.6NOTCH1, JAG1
4negative regulation of stem cell differentiationGO:20007379.6JAG1, NOTCH1
5cardiac septum morphogenesisGO:0604119.5NOTCH1, JAG1
6negative regulation of neurogenesisGO:0507689.5DLL3, NOTCH1
7response to muramyl dipeptideGO:0324959.5NOTCH1, JAG1
8neuronal stem cell maintenanceGO:0971509.5JAG1, NOTCH1
9epithelial to mesenchymal transitionGO:0018379.4NOTCH1, FLNA
10hemopoiesisGO:0300979.3JAG1, NOTCH2
11pulmonary valve morphogenesisGO:0031849.3NOTCH2, NOTCH1, JAG1
12Notch signaling involved in heart developmentGO:0613149.2JAG1, NOTCH1, NOTCH2
13keratinocyte differentiationGO:0302169.2NOTCH1, JAG1
14Notch receptor processingGO:0072209.2NOTCH2, NOTCH1, JAG1
15multicellular organismal developmentGO:0072759.1NOTCH2NL, NOTCH2, JAG1
16Notch signaling pathwayGO:0072198.3NOTCH2NL, NOTCH2, NOTCH1, DLL3, JAG1

Molecular functions related to Hajdu-Cheney Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:0051129.2DLL3, JAG1
2calcium ion bindingGO:0055098.4NOTCH2NL, NOTCH2, NOTCH1, JAG1

Products for genes affiliated with Hajdu-Cheney Syndrome

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Sources for Hajdu-Cheney Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet