MCID: HJD001
MIFTS: 42

Hajdu-Cheney Syndrome malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Hajdu-Cheney Syndrome

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OMIM:45 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 dominant type, is related to osteoporosis and melnick-needles syndrome, and has symptoms including intestinal malrotation, autosomal dominant inheritance and inguinal hernia. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (notch 2). Affiliated tissues include bone, kidney and spinal cord.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 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

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

Aliases & Classifications for Hajdu-Cheney Syndrome

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Hajdu-Cheney Syndrome, Aliases & Descriptions:

Name: Hajdu-Cheney Syndrome 45 9 10 41 20 21 11 22 60
Acroosteolysis Dominant Type 41 21 60
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 41 21
Serpentine Fibula Polycystic Kidney Syndrome 41 60
Arthrodentoosteodysplasia 41 21
Cheney Syndrome 41 21
Sfpks 41 21
Hereditary Osteodysplasia with Acro-Osteolysis 21
Cranioskeletal Dysplasia with Acro-Osteolysis 21
 
Serpentine Fibula-Polycystic Kidney Syndrome 21
Serpentine Fibula - Polycystic Kidneys 41
Arthro-Dento-Ostéodysplasie 41
Arthro-Dento-Osteo Dysplasia 21
Serpentine Fibula Syndrome 41
Acrodentoosteodysplasia 41
Familial Osteodysplasia 21
Exner Syndrome 41
Hjcys 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

OMIM45 102500
Disease Ontology9 DOID:2736
SNOMED-CT55 63122002, 27201004
NCIt38 C84745

Related Diseases for Hajdu-Cheney Syndrome

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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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Symptoms by clinical synopsis from OMIM:

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Clinical features from OMIM:

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HPO human phenotypes related to Hajdu-Cheney Syndrome:

(show all 51)
id Description Frequency HPO Source Accession
1 intestinal malrotation rare (5%) HP:0002566
2 autosomal dominant inheritance HP:0000006
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 acroosteolysis (feet) 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
51 osteolytic defects of the phalanges of the hand HP:0009771

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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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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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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MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

31
Bone, Kidney, Spinal cord

Animal Models for Hajdu-Cheney Syndrome or affiliated genes

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Publications for Hajdu-Cheney Syndrome

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Articles related to Hajdu-Cheney Syndrome:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. (24641753)
2014
2
Hajdu-Cheney syndrome: a case report with review of literature. (25426244)
2014
3
Hajdu-Cheney syndrome: a review. (25491639)
2014
4
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. (23970057)
2013
5
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. (23117206)
2013
6
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
7
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. (24010868)
2013
8
A girl with Hajdu-Cheney syndrome and premature ovarian failure. (22570971)
2012
9
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. (21712856)
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
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. (22749662)
2012
12
Hajdu-Cheney syndrome with severe dural ectasia. (21337686)
2011
13
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (21378985)
2011
14
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. (21671395)
2011
15
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. (21488202)
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
Hajdu-Cheney syndrome in a 19-year-old man. (17229668)
2006
23
Hajdu-Cheney syndrome: report of a family and a short literature review. (17107523)
2006
24
Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report. (16370291)
2005
25
Hajdu-Cheney syndrome and syringomyelia. Case report. (12507146)
2002
26
Acro-osteolysis and osteoporosis as manifestations of the Hajdu-Cheney syndrome. (12175120)
2002
27
Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. (10968485)
2000
28
Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up. (10620062)
1999
29
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. (9714016)
1998
30
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? (9220203)
1997
31
Severe Hajdu-Cheney syndrome with upper airway obstruction. (9188663)
1997
32
Syringohydromyelia in Hajdu-Cheney syndrome. (8598999)
1996
33
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
34
Acro-osteolysis (Hajdu-Cheney) syndrome: report of a case with abnormal tooth structure. (8680972)
1995
35
Hajdu-Cheney syndrome. (8203959)
1994
36
Acro-osteolysis (Hajdu-Cheney syndrome) (8172752)
1994
37
Hydrocephalus in Hajdu-Cheney syndrome. (8445627)
1993
38
C.T. findings in the Hajdu-Cheney syndrome. (1870934)
1991
39
Hajdu-Cheney syndrome: MR imaging. (1749477)
1991
40
Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis. (2347142)
1990
41
High turnover osteoporosis in acro-osteolysis (Hajdu-Cheney syndrome). (2365959)
1990
42
Genetics of the Hajdu-Cheney syndrome. (3606689)
1987
43
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. (3527178)
1986
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 "acro-osteolysis" syndrome. (4699178)
1973

Variations for Hajdu-Cheney Syndrome

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Clinvar genetic disease variations for Hajdu-Cheney Syndrome:

6
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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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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Cellular components related to Hajdu-Cheney Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5NOTCH2NL, NOTCH2, FLNA

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

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:00072759.3NOTCH2NL, NOTCH2
2Notch signaling pathwayGO:00072199.0NOTCH2NL, NOTCH2

Products for genes affiliated with Hajdu-Cheney Syndrome

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Sources for Hajdu-Cheney Syndrome

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