MCID: HJD001
MIFTS: 50

Hajdu-Cheney Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases categories
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Summaries for Hajdu-Cheney Syndrome

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 dolichocephaly/scaphocephaly, telecanthus/canthal dystopy and myopia. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (notch 2). Affiliated tissues include bone, skin and kidney.

Wikipedia:65 Hajdu?Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Description from OMIM:47 102500,102400

Aliases & Classifications for Hajdu-Cheney Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hajdu-cheney syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

hajdu-cheney syndrome 8 9 43 20 22 47 10 49 62
acroosteolysis with osteoporosis and changes in skull and mandible 43 49
acroosteolysis dominant type 49 47
arthrodentoosteodysplasia 43 49
cheney syndrome 43 49
arthro-dento-ostéodysplasie 49
acrodentoosteodysplasia 49


External Ids:

Disease Ontology8 DOID:2736
NCIt40 C84745
SNOMED-CT58 63122002, 27201004
MESH via Orphanet36 C531695, C535663, D031845
ICD10 via Orphanet26 M89.5
SNOMED-CT via Orphanet59 63122002
UMLS via Orphanet63 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

Symptoms for Hajdu-Cheney Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

102400

Clinical features from OMIM:

102500,102400

Symptoms:

49 (show all 84)
  • dolichocephaly/scaphocephaly
  • telecanthus/canthal dystopy
  • myopia
  • aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis
  • polycystic kidneys
  • coloboma of iris
  • cleft lip and palate
  • downturned mouth
  • facial pain/cephalalgia/migraine
  • skull/cranial anomalies
  • wormian bones
  • mutiple fractures/bone fragility
  • short foot/brachydactyly of toes
  • broad nasal root
  • prominent occiput/occipital bossing
  • thick skin/pachydermia/orange skin
  • microstomia/little mouth
  • osteolysis/osteoclasia/bone destruction/erosions
  • ventricular septal defect/interventricular communication
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • intestinal/gut/bowel malrotation
  • syringomelia
  • distal phalangeal bones of toes hypoplasia/absence
  • frontal sinus agenesis/anomaly
  • basilary impression/invagination/cranio-spinal malformation/platybasia
  • mitral valve atresia/stenosis/narrowing
  • poorly ossified skull/calvarium
  • hypoplastic mandibula/partial absence of the mandibula
  • abnormal fingernails
  • synophris/synophrys
  • terminal/third phalangeal bone of fingers hypoplasia
  • bone pain
  • terminal broadening/clubbing of toes
  • low hair line-front
  • alveolysis/paraodontitis
  • thin/retracted lips
  • patella dislocation
  • arnold-chiari anomaly
  • hypospadias/epispadias/bent penis
  • patent ductus arteriosus
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • coarse face
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • dental malocclusion
  • inguinal/inguinoscrotal/crural hernia
  • bowed diaphysis/diaphyses/long bones
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hydrocephaly
  • hypertelorism
  • flat cheek bones/malar hypoplasia
  • low set ears/posteriorly rotated ears
  • short neck
  • scoliosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • kyphosis
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal dominant inheritance
  • repeat respiratory infections
  • facial dysmorphism
  • long philtrum
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • peripheral neuropathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • hirsutism/hypertrichosis/increased body hair
  • short hand/brachydactyly
  • broad cheeks/cherub-like/cherubin face
  • abnormal cry/voice/phonation disorder/nasal speech
  • umbilical hernia
  • anomalies of teeth and dentition
  • pectus carinatum
  • abnormal vertebral size/shape
  • thick/bushy eyebrows
  • anteverted nares/nostrils
  • coarse/thick hair
  • late puberty/hypogonadism/hypogenitalism
  • articular/joint pain/arthralgia
  • hyperextensible joints/articular hyperlaxity

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hajdu-Cheney Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

33
Bone, Skin, Kidney, Liver, Spinal cord

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

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Publications for Hajdu-Cheney Syndrome

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Sources:
52PubMed
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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. (23970057)
2013
2
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
3
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
4
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
5
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. (23389697)
2013
6
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
7
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
2012
8
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
9
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. (22749662)
2012
10
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
11
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
12
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
13
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
2011
14
Anesthesia for a child with Hajdu-Cheney syndrome. (19646007)
2009
15
Hajdu-Cheney syndrome: infantile onset of hydrocephalus and serpentine fibulae. (20158625)
2009
16
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. (18815778)
2009
17
Spinal reconstruction in Hajdu-Cheney syndrome. (18556886)
2008
18
Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome: 2-year follow-up. (17874031)
2008
19
Periodontitis associated with Hajdu-Cheney syndrome. (17760556)
2007
20
Hajdu-Cheney syndrome in a 19-year-old man. (17229668)
2006
21
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
22
Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. (16370291)
2005
23
Hajdu-Cheney syndrome and syringomyelia. Case report. (12507146)
2002
24
Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome. (12175120)
2002
25
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. (10968485)
2000
26
Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. (10620062)
1999
27
Further evidence that the Hajdu-Cheney syndrome and the &quot;serpentine fibula-polycystic kidney syndrome&quot; are a single entity. (9714016)
1998
28
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (9220203)
1997
29
Severe Hajdu-Cheney syndrome with upper airway obstruction. (9188663)
1997
30
Syringohydromyelia in Hajdu-Cheney syndrome. (8598999)
1996
31
Kidney abnormalities in Hajdu-Cheney syndrome. (8971886)
1996
32
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
33
Acro-osteolysis (Hajdu-Cheney) syndrome: report of a case with abnormal tooth structure. (8680972)
1995
34
Hajdu-Cheney syndrome. (8203959)
1994
35
Acro-osteolysis (Hajdu-Cheney syndrome) (8172752)
1994
36
Hydrocephalus in Hajdu-Cheney syndrome. (8445627)
1993
37
C.T. findings in the Hajdu-Cheney syndrome. (1870934)
1991
38
Hajdu-Cheney syndrome: MR imaging. (1749477)
1991
39
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. (2347142)
1990
40
High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome). (2365959)
1990
41
Genetics of the Hajdu-Cheney syndrome. (3606689)
1987
42
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. (3527178)
1986
43
The Hajdu-Cheney syndrome. A review of the literature and report of 3 cases. (3920154)
1985
44
Hajdu-Cheney syndrome: rehabilitation after decompression of cervical spinal cord compromise. (6712442)
1984
45
Acro-osteolysis in a patient with Hajdu-Cheney syndrome demonstrated by bone scintigraphy. (6509839)
1984
46
Hajdu-Cheney syndrome. (547971)
1979
47
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). (707523)
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

Variations for Hajdu-Cheney Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hajdu-Cheney Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NOTCH2NOTCH2, 1-BP DEL, 6272TdeletionPathogenic/card/hajdu_cheney_syndrome
2NOTCH2NOTCH2, 1-BP DEL, 6460TdeletionPathogenic/card/hajdu_cheney_syndrome
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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2BioGPS, 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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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:0055768.5NOTCH2NL, NOTCH2, FLNA

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

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.3NOTCH2NL, NOTCH2
2Notch signaling pathwayGO:0072199.0NOTCH2NL, NOTCH2

Products for genes affiliated with Hajdu-Cheney Syndrome

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Sources for Hajdu-Cheney Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet