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HJCYS
MCID: HJD001
MIFTS: 60

Hajdu-Cheney Syndrome (HJCYS)

Categories: Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hajdu-Cheney Syndrome

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MalaCards integrated aliases for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 57 12 25 75 37 29 13 6 44 15 40 73
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 57 25 75
Serpentine Fibula-Polycystic Kidney Syndrome 57 25 75
Arthrodentoosteodysplasia 57 25 75
Cheney Syndrome 57 25 75
Hjcys 57 25 75
Sfpks 57 25 75
Acroosteolysis Dominant Type 25 73
Serpentine Fibula-Polycystic Kidney Syndrome; Sfpks 57
Hereditary Osteodysplasia with Acro-Osteolysis 25
Cranioskeletal Dysplasia with Acro-Osteolysis 25
Serpentine Fibula Polycystic Kidney Syndrome 73
Arthro-Dento-Osteo Dysplasia 25
Serpentine Fibula Syndrome 75
Familial Osteodysplasia 25
Hajducheney Syndrome 76
Acro-Osteolysis 44
Hcs 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hajdu-cheney syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Hajdu-Cheney Syndrome

About this section
OMIM : 57 Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011). (102500)

MalaCards based summary : Hajdu-Cheney Syndrome, also known as acroosteolysis with osteoporosis and changes in skull and mandible, is related to dysostosis and acroosteolysis dominant type. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch 2), and among its related pathways/superpathways are Notch signaling pathway and ERK Signaling. The drugs Pamidronate and Zoledronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are low-set ears and short neck

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 : 75 Hajdu-Cheney syndrome: A rare, autosomal dominant 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 : 76 Hajdu�??Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Sources

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 135)
# Related Disease Score Top Affiliating Genes
1 dysostosis 30.2 DLL3 HES7 RUNX2
2 acroosteolysis dominant type 12.4
3 idiopathic phalangeal acro-osteolysis 12.4
4 premature aging syndrome, penttinen type 11.7
5 penttinen-aula syndrome 11.7
6 hypotonia-cystinuria syndrome 11.6
7 hemicrania continua 11.5
8 holocarboxylase synthetase deficiency 11.4
9 singleton-merten syndrome 1 11.4
10 singleton-merten syndrome 2 11.4
11 van bogaert-hozay syndrome 11.4
12 osteodysplasia, familial, anderson type 11.1
13 hemochromatosis, type 1 11.1
14 osteoporosis 10.8
15 acroosteolysis 10.6
16 syringomyelia 10.5
17 kidney disease 10.5
18 melnick-needles syndrome 10.4
19 scleroderma, familial progressive 10.4
20 calcinosis 10.4
21 hydrocephalus 10.4
22 cystic kidney disease 10.4
23 osteopetrosis 10.4
24 lateral meningocele syndrome 10.3
25 glaucoma 3, primary congenital, a 10.3
26 premature ovarian failure 1 10.3
27 diabetes mellitus, ketosis-prone 10.3
28 bone mineral density quantitative trait locus 15 10.3
29 arthritis 10.3
30 glomerulonephritis 10.3
31 osteoarthritis 10.3
32 polycystic kidney disease 10.3
33 osteomyelitis 10.3
34 meningocele 10.3
35 ventricular septal defect 10.3
36 squamous cell carcinoma 10.3
37 periodontitis 10.3
38 neuropathy 10.3
39 arachnoid cysts 10.3
40 growth hormone deficiency 10.3
41 syringohydromyelia 10.3
42 lacrimal gland adenoid cystic carcinoma 10.2 NOTCH1 NOTCH2
43 spondylocostal dysostosis, autosomal recessive 10.2 HES7 DLL3
44 nodular regenerative hyperplasia 10.2 NOTCH2 NOTCH1 JAG1
45 tetanus 10.2
46 lung adenoma 10.1 NOTCH3 NOTCH2 NOTCH1
47 spondylocostal dysostosis 3, autosomal recessive 10.1 NOTCH1 HES7 DLL3
48 carpal tunnel syndrome 10.1
49 keratitis, hereditary 10.1
50 hemifacial microsomia 10.1

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



Diseases related to Hajdu-Cheney Syndrome
Sources

Symptoms & Phenotypes for Hajdu-Cheney Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss, conductive
prominent ear lobes

Skeletal Limbs:
genu valgum
joint laxity
dislocation of radial head
long, bowed fibulae
serpentine fibulae

Skeletal:
osteopenia
osteoporosis
joint laxity
pathologic fractures

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Nose:
anteverted nares
broad nose

Head And Neck Face:
full cheeks
long philtrum
micrognathia
coarse facies

Skeletal Skull:
wormian bones
bathrocephaly
failure of suture ossification
thickened skull vault
absent frontal sinus
more
Head And Neck Eyes:
telecanthus
long eyelashes
synophrys
downslanting palpebral fissures
epicanthal folds
more
Skeletal Spine:
kyphoscoliosis
narrow disc space
biconcave vertebrae
tall lumbar vertebral bodies
cervical instability
more
Head And Neck Teeth:
malocclusion
early tooth loss

Head And Neck Head:
bathrocephaly

Abdomen Gastrointestinal:
intestinal malrotation (less common)

Skeletal Hands:
pseudoclubbing
short distal digits
acroosteolysis
crowded carpal bones

Skin Nails Hair Nails:
short nails
curved nails

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
hydrocephalus
normal intelligence

Growth Other:
failure to thrive

Abdomen External Features:
umbilical hernia

Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
long eyelashes
synophrys
thick eyebrows
thick, straight hair

Skin Nails Hair Skin:
hirsutism

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
congenital heart disease (variable)
septal defects

Genitourinary Kidneys:
renal cysts

Skeletal Feet:
short distal digits
acroosteolysis


Clinical features from OMIM:

102500

Human phenotypes related to Hajdu-Cheney Syndrome:

32 (show all 50)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 short neck 32 HP:0000470
3 genu valgum 32 HP:0002857
4 high palate 32 HP:0000218
5 hydrocephalus 32 HP:0000238
6 osteopenia 32 HP:0000938
7 failure to thrive 32 HP:0001508
8 inguinal hernia 32 HP:0000023
9 coarse facial features 32 HP:0000280
10 dental malocclusion 32 HP:0000689
11 umbilical hernia 32 HP:0001537
12 anteverted nares 32 HP:0000463
13 thick eyebrow 32 HP:0000574
14 short stature 32 HP:0004322
15 osteoporosis 32 HP:0000939
16 full cheeks 32 HP:0000293
17 long philtrum 32 HP:0000343
18 micrognathia 32 HP:0000347
19 patent ductus arteriosus 32 HP:0001643
20 epicanthus 32 HP:0000286
21 wormian bones 32 HP:0002645
22 pathologic fracture 32 HP:0002756
23 cryptorchidism 32 HP:0000028
24 joint laxity 32 HP:0001388
25 telecanthus 32 HP:0000506
26 hypospadias 32 HP:0000047
27 downslanted palpebral fissures 32 HP:0000494
28 conductive hearing impairment 32 HP:0000405
29 intestinal malrotation 32 occasional (7.5%) HP:0002566
30 long eyelashes 32 HP:0000527
31 synophrys 32 HP:0000664
32 large earlobe 32 HP:0009748
33 wide nose 32 HP:0000445
34 kyphoscoliosis 32 HP:0002751
35 renal cyst 32 HP:0000107
36 biconcave vertebral bodies 32 HP:0004586
37 dislocated radial head 32 HP:0003083
38 hirsutism 32 HP:0001007
39 short nail 32 HP:0001799
40 vertebral compression fractures 32 HP:0002953
41 osteolytic defects of the phalanges of the hand 32 HP:0009771
42 basilar impression 32 HP:0005758
43 absent frontal sinuses 32 HP:0002688
44 premature loss of teeth 32 HP:0006480
45 elongated sella turcica 32 HP:0005463
46 tall lumbar vertebral bodies 32 HP:0008421
47 cervical instability 32 HP:0008462
48 crowded carpal bones 32 HP:0006180
49 abnormal cardiac septum morphology 32 HP:0001671
50 foot acroosteolysis 32 HP:0001842

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.46 DLL3 FBXW7 FLNA FLNB FLNC GLI3
2 mortality/aging MP:0010768 10.41 CR2 DLL3 FBXW7 FLNA FLNB FLNC
3 cardiovascular system MP:0005385 10.38 FBXW7 FLNA FLNB FLNC GLI3 JAG1
4 homeostasis/metabolism MP:0005376 10.37 CR2 FBXW7 FLNA FLNB FLNC GLI3
5 cellular MP:0005384 10.34 FBXW7 FLNA FLNB GLI3 HES5 JAG1
6 craniofacial MP:0005382 10.33 DLL3 FBXW7 FLNA FLNB GLI3 HES5
7 embryo MP:0005380 10.32 DLL3 FBXW7 GLI3 HES5 HES7 JAG1
8 endocrine/exocrine gland MP:0005379 10.27 FBXW7 GLI3 HES5 JAG1 NOTCH1 NOTCH2
9 hematopoietic system MP:0005397 10.24 CR2 FBXW7 FLNA JAG1 NOTCH1 NOTCH2
10 nervous system MP:0003631 10.22 DLL3 FBXW7 FLNA FLNB GLI3 HES5
11 integument MP:0010771 10.21 FBXW7 FLNC GLI3 JAG1 NOTCH1 NOTCH2
12 digestive/alimentary MP:0005381 10.19 FBXW7 FLNA GLI3 JAG1 NOTCH1 NOTCH2
13 muscle MP:0005369 10.11 DLL3 FLNC JAG1 NOTCH1 NOTCH2 NOTCH3
14 normal MP:0002873 10.07 FBXW7 FLNA GLI3 JAG1 NOTCH1 NOTCH2
15 limbs/digits/tail MP:0005371 10.04 DLL3 FLNB GLI3 HES7 NOTCH2 RUNX2
16 hearing/vestibular/ear MP:0005377 10.02 DLL3 GLI3 HES5 JAG1 NOTCH1 NOTCH3
17 respiratory system MP:0005388 9.93 FBXW7 FLNA FLNB FLNC GLI3 HES5
18 neoplasm MP:0002006 9.91 FBXW7 NOTCH1 NOTCH2 NOTCH3 RBPJ TNFSF11
19 reproductive system MP:0005389 9.91 DLL3 FLNA GLI3 IZUMO1 NOTCH2 NOTCH3
20 renal/urinary system MP:0005367 9.87 CR2 GLI3 JAG1 NOTCH1 NOTCH2 NOTCH3
21 skeleton MP:0005390 9.73 DLL3 FLNA FLNB GLI3 HES7 JAG1
22 vision/eye MP:0005391 9.4 DLL3 FBXW7 FLNA GLI3 HES5 JAG1
Sources

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved 40391-99-9 4674
2
Zoledronic acid Approved 118072-93-8 68740
3 Bone Density Conservation Agents
4 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bisphosphonate Therapy in MONA Spectrum Disorder Completed NCT02823925 Pamidronate or Zoledronate

Search NIH Clinical Center for Hajdu-Cheney Syndrome

Cochrane evidence based reviews: hajdu-cheney syndrome

Sources

Genetic Tests for Hajdu-Cheney Syndrome

About this section

Genetic tests related to Hajdu-Cheney Syndrome:

# Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome 29 NOTCH2
Sources

Anatomical Context for Hajdu-Cheney Syndrome

About this section

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

41
Bone, Kidney, Heart, Eye, Spinal Cord, Lung, Brain
Sources

Publications for Hajdu-Cheney Syndrome

About this section

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 107)
# Title Authors Year
1
Phenotype variability in Hajdu-Cheney syndrome. ( 29698804 )
2018
2
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. ( 29618366 )
2018
3
Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis. ( 29940267 )
2018
4
Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. ( 29566451 )
2018
5
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. ( 30329210 )
2018
6
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. ( 30420927 )
2018
7
An unusual presentation of intracranial meningioma in Hajdu-Cheney syndrome. ( 29547200 )
2018
8
Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis. ( 29545197 )
2018
9
Bone structural characteristics and response to bisphosphonate treatment in children with Hajdu-Cheney Syndrome. ( 28938420 )
2017
10
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. ( 28941602 )
2017
11
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome. ( 28856714 )
2017
12
Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome. ( 28592489 )
2017
13
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. ( 29103128 )
2017
14
Foot Deformities in Hajdu-Cheney Syndrome: A Rare Case Report and Review of the Literature. ( 29242787 )
2017
15
NOTCH2 genetic mutation and acro-osteolysis-the Hajdu-Cheney syndrome. ( 28040705 )
2017
16
Letter to the Editor concerning "Hajdu Cheney syndrome; report of a novel NOTCH2 mutation and treatment with denosumab" by G. Adami et al. Bone 2016;92:150-156. ( 28411109 )
2017
17
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. ( 29176149 )
2017
18
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. ( 28600213 )
2017
19
Images in Medicine - Hajdu-Cheney Syndrome: A Rare Case Report. ( 26894198 )
2016
20
Hajdu Cheney Syndrome; report of a novel NOTCH2 mutation and treatment with denosumab. ( 27592446 )
2016
21
Osseointegration of Dental Implants in a Patient with Hajdu-cheney Syndrome. ( 27857819 )
2016
22
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. ( 27312922 )
2016
23
Hajdu-Cheney syndrome - a rare cause of micrognathia. ( 27488012 )
2016
24
Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. ( 27241678 )
2016
25
Poster 315 Complications Associated with Hajdu-Cheney Syndrome: A Case Report. ( 27673071 )
2016
26
Hajdu Cheney Syndrome. ( 27042504 )
2016
27
Capillaroscopic findings in a case of Hajdu-Cheney syndrome. ( 26400009 )
2015
28
A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity. ( 25696021 )
2015
29
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
30
Expert's comment concerning Grand Rounds case entitled "Surgical challenges in the management of cervical kyphotic deformity in patients with severe osteoporosis: an illustrative case of a patient with Hajdu-Cheney syndrome" (T. A. Mattei, A. A. Rehman, A. Issawi, D. R. Fassett). ( 26208937 )
2015
31
A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome. ( 26184537 )
2015
32
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation. ( 24608068 )
2014
33
Hajdu-Cheney syndrome: a case report with review of literature. ( 25426244 )
2014
34
Osteolysis with secondary arthritis of the scaphotrapeziotrapezoid joint in Hajdu-Cheney syndrome: a case report. ( 24641753 )
2014
35
Hajdu-Cheney syndrome: a review. ( 25491639 )
2014
36
One-bone forearm procedure for Hajdu-Cheney syndrome: a case report. ( 24426971 )
2013
37
A case report of anesthesia for a child with Hajdu-Cheney syndrome. ( 23728363 )
2013
38
Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. ( 23389697 )
2013
39
An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report. ( 24265536 )
2013
40
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
41
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome. ( 23566664 )
2013
42
Hajdu-Cheney Syndrome With Osteomyelitis of Mandible, Calcification of Falx Cerebri and Palatal Groove. ( 24010868 )
2013
43
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. ( 23117206 )
2013
44
Continuous spinal labor analgesia in a patient with Hajdu-Cheney syndrome. ( 23970057 )
2013
45
Hajdu-Cheney syndrome with ventricular septal defect. ( 23684141 )
2013
46
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
47
A girl with Hajdu-Cheney syndrome and premature ovarian failure. ( 22570971 )
2012
48
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. ( 21712856 )
2012
49
Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. ( 22749662 )
2012
50
Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. ( 21488202 )
2011
Sources

Variations for Hajdu-Cheney Syndrome

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ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

6 (show top 50) (show all 105)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh37 Chromosome 1, 120460308: 120460308
2 NOTCH2 NM_024408.3(NOTCH2): c.6007C> T (p.Arg2003Ter) single nucleotide variant Pathogenic rs312262801 GRCh38 Chromosome 1, 119917685: 119917685
3 NOTCH2 NM_024408.3(NOTCH2): c.1248G> A (p.Val416=) single nucleotide variant Likely benign rs374135765 GRCh37 Chromosome 1, 120510716: 120510716
4 NOTCH2 NM_024408.3(NOTCH2): c.1248G> A (p.Val416=) single nucleotide variant Likely benign rs374135765 GRCh38 Chromosome 1, 119968093: 119968093
5 NOTCH2 NM_024408.3(NOTCH2): c.1280G> A (p.Cys427Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 119967606: 119967606
6 NOTCH2 NM_024408.3(NOTCH2): c.1280G> A (p.Cys427Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 120510229: 120510229
7 NOTCH2 NM_024408.3(NOTCH2): c.6916A> T (p.Thr2306Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 119915806: 119915806
8 NOTCH2 NM_024408.3(NOTCH2): c.6916A> T (p.Thr2306Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 120458429: 120458429
9 NOTCH2 NM_024408.3(NOTCH2): c.6503delC (p.Pro2168Glnfs) deletion Pathogenic GRCh38 Chromosome 1, 119916219: 119916219
10 NOTCH2 NM_024408.3(NOTCH2): c.6503delC (p.Pro2168Glnfs) deletion Pathogenic GRCh37 Chromosome 1, 120458842: 120458842
11 NOTCH2 NM_024408.3(NOTCH2): c.6853C> T (p.Gln2285Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 119915869: 119915869
12 NOTCH2 NM_024408.3(NOTCH2): c.6853C> T (p.Gln2285Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 1, 120458492: 120458492
13 NOTCH2 NM_024408.3(NOTCH2): c.939C> T (p.Gly313=) single nucleotide variant Benign rs7533978 GRCh37 Chromosome 1, 120512303: 120512303
14 NOTCH2 NM_024408.3(NOTCH2): c.939C> T (p.Gly313=) single nucleotide variant Benign rs7533978 GRCh38 Chromosome 1, 119969680: 119969680
15 NOTCH2 NM_024408.3(NOTCH2): c.3652C> T (p.Arg1218Trp) single nucleotide variant Uncertain significance rs587641573 GRCh37 Chromosome 1, 120478098: 120478098
16 NOTCH2 NM_024408.3(NOTCH2): c.3652C> T (p.Arg1218Trp) single nucleotide variant Uncertain significance rs587641573 GRCh38 Chromosome 1, 119935475: 119935475
17 NOTCH2 NM_024408.3(NOTCH2): c.4639C> G (p.Leu1547Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 119923857: 119923857
18 NOTCH2 NM_024408.3(NOTCH2): c.4639C> G (p.Leu1547Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 120466480: 120466480
19 NOTCH2 NM_024408.3(NOTCH2): c.5945A> G (p.His1982Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 120460370: 120460370
20 NOTCH2 NM_024408.3(NOTCH2): c.5945A> G (p.His1982Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 119917747: 119917747
21 NOTCH2 NM_024408.3(NOTCH2): c.1957C> A (p.Pro653Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 119959461: 119959461
22 NOTCH2 NM_024408.3(NOTCH2): c.1957C> A (p.Pro653Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 120502084: 120502084
23 NOTCH2 NM_024408.3(NOTCH2): c.7198C> T (p.Arg2400Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 119915524: 119915524
24 NOTCH2 NM_024408.3(NOTCH2): c.7198C> T (p.Arg2400Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 120458147: 120458147
25 NOTCH2 NM_024408.3(NOTCH2): c.7078C> T (p.Gln2360Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 119915644: 119915644
26 NOTCH2 NM_024408.3(NOTCH2): c.7078C> T (p.Gln2360Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 120458267: 120458267
27 NOTCH2 NM_024408.3(NOTCH2): c.1804G> A (p.Ala602Thr) single nucleotide variant Uncertain significance rs140311741 GRCh37 Chromosome 1, 120506308: 120506308
28 NOTCH2 NM_024408.3(NOTCH2): c.1804G> A (p.Ala602Thr) single nucleotide variant Uncertain significance rs140311741 GRCh38 Chromosome 1, 119963685: 119963685
29 NOTCH2 NM_024408.3(NOTCH2): c.3246delAinsAA (p.Ala1083Serfs) indel Pathogenic GRCh37 Chromosome 1, 120480571: 120480571
30 NOTCH2 NM_024408.3(NOTCH2): c.3246delAinsAA (p.Ala1083Serfs) indel Pathogenic GRCh38 Chromosome 1, 119937948: 119937948
31 NOTCH2 NM_024408.3(NOTCH2): c.1567+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372367275 GRCh37 Chromosome 1, 120508991: 120508991
32 NOTCH2 NM_024408.3(NOTCH2): c.1567+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372367275 GRCh38 Chromosome 1, 119966368: 119966368
33 NOTCH2 NM_024408.3(NOTCH2): c.3441G> A (p.Glu1147=) single nucleotide variant Benign/Likely benign rs371875533 GRCh38 Chromosome 1, 119937363: 119937363
34 NOTCH2 NM_024408.3(NOTCH2): c.3441G> A (p.Glu1147=) single nucleotide variant Benign/Likely benign rs371875533 GRCh37 Chromosome 1, 120479986: 120479986
35 NOTCH2 NM_024408.3(NOTCH2): c.6449_6450delCT (p.Pro2150Argfs) deletion Pathogenic GRCh38 Chromosome 1, 119916272: 119916273
36 NOTCH2 NM_024408.3(NOTCH2): c.6449_6450delCT (p.Pro2150Argfs) deletion Pathogenic GRCh37 Chromosome 1, 120458895: 120458896
37 NOTCH2 NM_024408.3(NOTCH2): c.1315G> A (p.Ala439Thr) single nucleotide variant Benign rs199565938 GRCh38 Chromosome 1, 119967571: 119967571
38 NOTCH2 NM_024408.3(NOTCH2): c.1315G> A (p.Ala439Thr) single nucleotide variant Benign rs199565938 GRCh37 Chromosome 1, 120510194: 120510194
39 NOTCH2 NM_024408.3(NOTCH2): c.5345delA (p.Asp1782Alafs) deletion Pathogenic GRCh38 Chromosome 1, 119920363: 119920363
40 NOTCH2 NM_024408.3(NOTCH2): c.5345delA (p.Asp1782Alafs) deletion Pathogenic GRCh37 Chromosome 1, 120462986: 120462986
41 NOTCH2 NM_024408.3(NOTCH2): c.3034T> C (p.Leu1012=) single nucleotide variant Benign rs77194332 GRCh38 Chromosome 1, 119940704: 119940704
42 NOTCH2 NM_024408.3(NOTCH2): c.3034T> C (p.Leu1012=) single nucleotide variant Benign rs77194332 GRCh37 Chromosome 1, 120483327: 120483327
43 NOTCH2 NM_024408.3(NOTCH2): c.3479A> G (p.His1160Arg) single nucleotide variant Benign rs142876168 GRCh38 Chromosome 1, 119937325: 119937325
44 NOTCH2 NM_024408.3(NOTCH2): c.3479A> G (p.His1160Arg) single nucleotide variant Benign rs142876168 GRCh37 Chromosome 1, 120479948: 120479948
45 NOTCH2 NM_024408.3(NOTCH2): c.6997G> C (p.Ala2333Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs143506822 GRCh38 Chromosome 1, 119915725: 119915725
46 NOTCH2 NM_024408.3(NOTCH2): c.6997G> C (p.Ala2333Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs143506822 GRCh37 Chromosome 1, 120458348: 120458348
47 NOTCH2 NM_024408.3(NOTCH2): c.4897G> A (p.Val1633Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116321057 GRCh38 Chromosome 1, 119922741: 119922741
48 NOTCH2 NM_024408.3(NOTCH2): c.4897G> A (p.Val1633Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116321057 GRCh37 Chromosome 1, 120465364: 120465364
49 NOTCH2 NM_024408.3(NOTCH2): c.3117G> A (p.Thr1039=) single nucleotide variant Benign rs36084504 GRCh37 Chromosome 1, 120483244: 120483244
50 NOTCH2 NM_024408.3(NOTCH2): c.3117G> A (p.Thr1039=) single nucleotide variant Benign rs36084504 GRCh38 Chromosome 1, 119940621: 119940621
Sources

Expression for Hajdu-Cheney Syndrome

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

Pathways for Hajdu-Cheney Syndrome

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Pathways related to Hajdu-Cheney Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 31)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.76 FLNA FLNB FLNC NOTCH1 NOTCH2 NOTCH3
2
HIV Life Cycle 66
Show member pathways
 13.62 FBXW7 HES5 JAG1 NOTCH1 NOTCH2 NOTCH3
3
PAK Pathway 64
Show member pathways
 13.23 FLNA FLNB FLNC NOTCH1 NOTCH2 NOTCH3
4
PI3K-Akt signaling pathway 37
Show member pathways
 12.92 HES5 HES7 JAG1 NOTCH1 NOTCH2 NOTCH3
5
Signaling by NOTCH1 66
Show member pathways
 12.77 FBXW7 HES5 JAG1 NOTCH1 NOTCH2 NOTCH3
6
Pathways in cancer 37
12.73 DLL3 GLI3 HES5 JAG1 NOTCH1 NOTCH2
7
Glioma 37
Show member pathways
 12.72 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
8
Gastric cancer 37
Show member pathways
 12.64 DLL3 HES5 JAG1 NOTCH1 NOTCH2 NOTCH3
9
Th17 cell differentiation 37
Show member pathways
 12.55 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 RBPJ
10
Neuroscience 4
12.48 NOTCH1 NOTCH2 NOTCH3 NOTCH4
11
MicroRNAs in cancer 37
12.41 NOTCH1 NOTCH2 NOTCH3 NOTCH4
12
Notch signaling pathway (KEGG) 37
Show member pathways
 12.19 DLL3 FBXW7 HES5 JAG1 NOTCH1 NOTCH2
13
Development NOTCH1-mediated pathway for NF-KB activity modulation 22
Show member pathways
 12.14 FBXW7 JAG1 NOTCH1 RBPJ
14
NOTCH2 Activation and Transmission of Signal to the Nucleus 66
Show member pathways
 12.07 HES5 JAG1 NOTCH1 NOTCH2 RBPJ
15
Diseases of glycosylation 66
Show member pathways
 12.06 NOTCH1 NOTCH2 NOTCH3 NOTCH4
16
Presenilin-Mediated Signaling 64
12.06 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
17
Wnt / Hedgehog / Notch 4
12.06 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
18
Pre-NOTCH Expression and Processing 66
Show member pathways
 11.99 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ
19
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.95 NOTCH1 NOTCH2 NOTCH3 NOTCH4
20
Thyroid hormone signaling pathway 37
11.94 NOTCH1 NOTCH2 NOTCH3 NOTCH4
21
Angiogenesis (CST) 4
11.8 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
22
Salmonella infection (KEGG) 37
11.74 FLNA FLNB FLNC
23
Neural Crest Differentiation 1
11.71 DLL3 HES5 NOTCH1 NOTCH2 NOTCH3 NOTCH4
24
Notch-mediated HES/HEY network 1
11.46 NOTCH1 RBPJ RUNX2
25
Th2 Differentiation Pathway 65
11.44 JAG1 NOTCH1 RBPJ
26
Notch Signaling Pathway (sino) 67
11.26 FBXW7 NOTCH1 NOTCH2 NOTCH4 RBPJ
27
NOTCH1 regulation of human endothelial cell calcification 1
10.98 DLL3 JAG1 NOTCH1
28
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.87 JAG1 NOTCH1
29
Gene regulatory network modelling somitogenesis 1
10.66 HES7 NOTCH1
30
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling 66
Show member pathways
 10.62 FBXW7 NOTCH1
31
Canonical and Non-canonical Notch signaling 1
10.6 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
Sources

GO Terms for Hajdu-Cheney Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.91 FBXW7 GLI3 HES5 NOTCH1 NOTCH2 NOTCH3
2 Z disc GO:0030018 9.33 FLNA FLNB FLNC
3 receptor complex GO:0043235 9.26 CR2 NOTCH1 NOTCH2 NOTCH3
4 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 NOTCH1 RBPJ
5 plasma membrane GO:0005886 10.06 CR2 FLNA FLNB FLNC IZUMO1 JAG1

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

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.97 GLI3 JAG1 NOTCH1 RBPJ
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.95 NOTCH1 NOTCH2 NOTCH3 NOTCH4 RBPJ RUNX2
3 neuron differentiation GO:0030182 9.94 HES5 NOTCH1 RBPJ RUNX2
4 animal organ morphogenesis GO:0009887 9.9 JAG1 NOTCH2 TNFSF11
5 lung development GO:0030324 9.89 FBXW7 GLI3 NOTCH1
6 hemopoiesis GO:0030097 9.89 JAG1 NOTCH2 NOTCH4 RBPJ RUNX2
7 keratinocyte differentiation GO:0030216 9.88 JAG1 NOTCH1 RBPJ
8 forebrain development GO:0030900 9.87 GLI3 NOTCH1 NOTCH3
9 camera-type eye development GO:0043010 9.86 GLI3 HES5 JAG1
10 positive regulation of osteoblast differentiation GO:0045669 9.85 GLI3 JAG1 RUNX2
11 neural tube development GO:0021915 9.83 GLI3 HES5 NOTCH1
12 regulation of neurogenesis GO:0050767 9.83 HES5 HES7 NOTCH1
13 negative regulation of neuron differentiation GO:0045665 9.83 GLI3 HES5 JAG1 NOTCH1 NOTCH3
14 somitogenesis GO:0001756 9.81 DLL3 HES5 HES7 RBPJ
15 positive regulation of BMP signaling pathway GO:0030513 9.79 HES5 NOTCH1 RBPJ
16 neuron fate commitment GO:0048663 9.77 GLI3 NOTCH1 NOTCH3
17 positive regulation of Notch signaling pathway GO:0045747 9.77 HES5 JAG1 NOTCH1 NOTCH4 RBPJ
18 neuronal stem cell population maintenance GO:0097150 9.75 HES5 JAG1 NOTCH1
19 negative regulation of smoothened signaling pathway GO:0045879 9.74 GLI3 RUNX2
20 artery morphogenesis GO:0048844 9.74 NOTCH3 RBPJ
21 positive regulation of neuroblast proliferation GO:0002052 9.74 GLI3 NOTCH1
22 aortic valve morphogenesis GO:0003180 9.73 JAG1 NOTCH1
23 negative regulation of ossification GO:0030279 9.73 NOTCH1 RBPJ
24 positive regulation of chondrocyte differentiation GO:0032332 9.73 GLI3 RUNX2
25 positive regulation of Ras protein signal transduction GO:0046579 9.73 NOTCH1 NOTCH2
26 cell junction assembly GO:0034329 9.73 FLNA FLNC
27 ventricular trabecula myocardium morphogenesis GO:0003222 9.72 NOTCH1 RBPJ
28 regulation of epithelial cell proliferation GO:0050678 9.72 HES5 NOTCH1
29 cardiac septum morphogenesis GO:0060411 9.72 JAG1 NOTCH1
30 cell fate determination GO:0001709 9.72 JAG1 NOTCH2 NOTCH4
31 inflammatory response to antigenic stimulus GO:0002437 9.71 NOTCH1 RBPJ
32 endothelial cell differentiation GO:0045446 9.71 JAG1 NOTCH4
33 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.71 NOTCH1 RBPJ
34 negative regulation of oligodendrocyte differentiation GO:0048715 9.71 HES5 NOTCH1
35 response to muramyl dipeptide GO:0032495 9.71 JAG1 NOTCH1
36 negative regulation of stem cell differentiation GO:2000737 9.71 HES5 JAG1 NOTCH1
37 positive regulation of transcription of Notch receptor target GO:0007221 9.71 NOTCH1 NOTCH3 NOTCH4 RBPJ
38 cardiac left ventricle morphogenesis GO:0003214 9.7 NOTCH1 RBPJ
39 inner ear auditory receptor cell differentiation GO:0042491 9.7 HES5 JAG1
40 negative regulation of endothelial cell differentiation GO:0045602 9.7 JAG1 NOTCH4
41 pulmonary valve morphogenesis GO:0003184 9.7 JAG1 NOTCH1 NOTCH2
42 astrocyte differentiation GO:0048708 9.69 HES5 NOTCH1
43 forebrain radial glial cell differentiation GO:0021861 9.68 GLI3 HES5
44 regulation of somitogenesis GO:0014807 9.68 HES7 NOTCH1
45 interleukin-4 secretion GO:0072602 9.67 NOTCH1 RBPJ
46 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.67 NOTCH1 RBPJ
47 regulation of inner ear auditory receptor cell differentiation GO:0045607 9.66 HES5 NOTCH1
48 compartment pattern specification GO:0007386 9.65 DLL3 NOTCH1
49 endocardium development GO:0003157 9.65 NOTCH1 RBPJ
50 auditory receptor cell fate commitment GO:0009912 9.64 NOTCH1 RBPJ

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.72 GLI3 HES5 HES7 NOTCH1 RBPJ
2 transcription factor binding GO:0008134 9.71 FLNA HES5 HES7 RBPJ
3 signaling receptor activity GO:0038023 9.56 NOTCH1 NOTCH2 NOTCH3 NOTCH4
4 chromatin binding GO:0003682 9.55 GLI3 HES5 NOTCH1 RBPJ RUNX2
5 calcium ion binding GO:0005509 9.43 DLL3 JAG1 NOTCH1 NOTCH2 NOTCH3 NOTCH4
6 Notch binding GO:0005112 8.8 DLL3 JAG1 NOTCH1
7 protein binding GO:0005515 10.24 CR2 FBXW7 FLNA FLNB FLNC GLI3
Sources

Sources for Hajdu-Cheney Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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