HJCYS
MCID: HJD001
MIFTS: 60

Hajdu-Cheney Syndrome (HJCYS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hajdu-Cheney Syndrome

MalaCards integrated aliases for Hajdu-Cheney Syndrome:

Name: Hajdu-Cheney Syndrome 56 12 74 52 25 58 73 36 29 13 6 43 15 39 71
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 56 12 52 25 58 73
Arthrodentoosteodysplasia 56 12 52 25 58 73
Cheney Syndrome 56 12 52 25 58 73
Serpentine Fibula-Polycystic Kidney Syndrome 56 12 25 73
Acroosteolysis Dominant Type 52 25 58 71
Hjcys 56 12 25 73
Sfpks 56 12 25 73
Serpentine Fibula-Polycystic Kidney Syndrome; Sfpks 56
Hereditary Osteodysplasia with Acro-Osteolysis 25
Serpentine Fibula-Polycystic Kidneys Syndrome 52
Cranioskeletal Dysplasia with Acro-Osteolysis 25
Serpentine Fibula Polycystic Kidney Syndrome 71
Arthro-Dento-Osteo Dysplasia 25
Serpentine Fibula Syndrome 73
Familial Osteodysplasia 25
Acrodentoosteodysplasia 58
Acro-Osteolysis 43
Hcs 73

Characteristics:

Orphanet epidemiological data:

58
acroosteolysis dominant type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hajdu-cheney syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hajdu-Cheney Syndrome

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. Bone abnormalities throughout the body are common in Hajdu-Cheney syndrome. Affected individuals develop osteoporosis, which causes the bones to be brittle and prone to fracture. Many affected individuals experience breakage (compression fractures) of the spinal bones (vertebrae). Some also develop abnormal curvature of the spine (scoliosis or kyphosis). Hajdu-Cheney syndrome also affects the shape and strength of the long bones in the arms and legs. The abnormalities associated with this condition lead to short stature. Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including the bones of the face. The shape of the skull is often described as dolichocephalic, which means it is elongated from back to front. In many affected individuals, the bone at the back of the skull bulges outward, causing a bump called a prominent occiput. Distinctive facial features associated with this condition include widely spaced and downward-slanting eyes, eyebrows that grow together in the middle (synophrys), low-set ears, a sunken appearance of the middle of the face (midface hypoplasia), and a large space between the nose and upper lip (a long philtrum). Some affected children are born with an opening in the roof of the mouth called a cleft palate or with a high arched palate. In affected adults, the facial features are often described as "coarse." Other features of Hajdu-Cheney syndrome found in some affected individuals include joint abnormalities, particularly an unusually large range of joint movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice; excess body hair; recurrent infections in childhood; heart defects; and kidney abnormalities such as the growth of multiple fluid-filled cysts (polycystic kidneys). Some people with this condition have delayed development in childhood, but the delays are usually mild. The most serious complications of Hajdu-Cheney syndrome, which occur in about half of all affected individuals, are abnormalities known as platybasia and basilar invagination. Platybasia is a flattening of the base of the skull caused by thinning and softening of the skull bones. Basilar invagination occurs when the softened bones allow part of the spine to protrude abnormally through the opening at the bottom of the skull, pushing into the lower parts of the brain. These abnormalities can lead to severe neurological problems, including headaches, abnormal vision and balance, a buildup of fluid in the brain (hydrocephalus), abnormal breathing, and sudden death. The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected individuals, even among members of the same family. Many of the disorder's features, such as acro-osteolysis and some of the characteristic facial features, are not present at birth but become apparent in childhood or later. The risk of developing platybasia and basilar invagination also increases over time. The features of Hajdu-Cheney syndrome overlap significantly with those of a condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although they used to be considered separate disorders, researchers discovered that the two conditions are associated with mutations in the same gene. Based on these similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to be variants of the same condition.

MalaCards based summary : Hajdu-Cheney Syndrome, also known as acroosteolysis with osteoporosis and changes in skull and mandible, is related to meningocele and patent ductus arteriosus 1. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch Receptor 2), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. The drugs Treprostinil and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertelorism and osteopenia

Disease Ontology : 12 A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has material basis in heterozygous mutation in NOTCH2 on chromosome 1p12.

NIH Rare Diseases : 52 Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome , is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis ). The abnormalities associated with this condition may lead to short stature . Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene . The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.

OMIM : 56 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)

KEGG : 36 Hajdu-Cheney Syndrome is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.

UniProtKB/Swiss-Prot : 73 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 : 74 Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible,... more...

Related Diseases for Hajdu-Cheney Syndrome

Diseases related to Hajdu-Cheney Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 327)
# Related Disease Score Top Affiliating Genes
1 meningocele 30.5 MESP2 HES7
2 patent ductus arteriosus 1 30.4 NOTCH2 NOTCH1 JAG1
3 scoliosis 29.9 MESP2 LFNG HES7 DLL3
4 dysostosis 29.6 MESP2 LFNG HES7 DLL3
5 alagille syndrome 1 28.4 RBPJ NOTCH2 NOTCH1 MESP2 LFNG JAG1
6 idiopathic phalangeal acro-osteolysis 12.6
7 premature aging syndrome, penttinen type 12.3
8 osteodysplasia, familial, anderson type 12.0
9 holocarboxylase synthetase deficiency 11.9
10 primary hypertrophic osteoarthropathy 11.9
11 haim-munk syndrome 11.9
12 hypotonia-cystinuria syndrome 11.8
13 hemicrania continua 11.6
14 singleton-merten syndrome 1 11.5
15 mandibuloacral dysplasia with type a lipodystrophy 11.5
16 singleton-merten syndrome 2 11.5
17 warburg-cinotti syndrome 11.5
18 singleton-merten syndrome 11.5
19 van bogaert-hozay syndrome 11.5
20 zinc, elevated plasma 11.2
21 hemochromatosis, type 1 11.2
22 acroosteolysis 11.2
23 osteoporosis 10.9
24 bone mineral density quantitative trait locus 8 10.9
25 bone mineral density quantitative trait locus 15 10.9
26 bone resorption disease 10.8
27 systemic scleroderma 10.6
28 bone disease 10.6
29 kidney disease 10.6
30 periodontitis 10.6
31 calcinosis 10.5
32 syringomyelia, noncommunicating isolated 10.5
33 melnick-needles syndrome 10.5
34 hydrocephalus 10.5
35 cystic kidney disease 10.5
36 syringomyelia 10.5
37 raynaud phenomenon 10.5
38 tetanus 10.5
39 neuropathy, hereditary sensory and autonomic, type iia 10.5
40 pustulosis of palm and sole 10.5
41 psoriasis 10.5
42 lateral meningocele syndrome 10.4
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
44 polycystic kidney disease 10.4
45 ventricular septal defect 10.4
46 heart septal defect 10.4
47 glomerulonephritis 10.4
48 hypermobile ehlers-danlos syndrome 10.4
49 splenomegaly 10.4
50 osteopetrosis 10.4

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



Diseases related to Hajdu-Cheney Syndrome

Symptoms & Phenotypes for Hajdu-Cheney Syndrome

Human phenotypes related to Hajdu-Cheney Syndrome:

58 31 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
4 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
8 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
9 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
12 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
13 periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000704
14 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
15 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
16 partial absence of toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0011305
17 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
18 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
21 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
22 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
23 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
24 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
25 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
26 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
27 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
28 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
29 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
30 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
31 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
32 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
33 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
34 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
35 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
36 platybasia 58 31 frequent (33%) Frequent (79-30%) HP:0002691
37 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
38 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
39 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
40 biconcave vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004586
41 absent frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002688
42 hypoplastic 5th lumbar vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0008424
43 abnormal fingernail morphology 31 frequent (33%) HP:0001231
44 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
45 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
46 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
47 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
48 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
49 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
50 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240

Symptoms via clinical synopsis from OMIM:

56
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

Neurologic Central Nervous System:
hydrocephalus
normal intelligence

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Growth Height:
short stature

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

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Spine:
kyphoscoliosis
cervical instability
tall lumbar vertebral bodies
narrow disc space
biconcave vertebrae
more
Skin Nails Hair Hair:
synophrys
long eyelashes
thick eyebrows
thick, straight hair

Skeletal Hands:
crowded carpal bones
pseudoclubbing
short distal digits
acroosteolysis

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
congenital heart disease (variable)
septal defects

Genitourinary Kidneys:
renal cysts

Skin Nails Hair Nails:
short nails
curved nails

Head And Neck Neck:
short neck

Growth Other:
failure to thrive

Skeletal:
osteopenia
osteoporosis
joint laxity
pathologic fractures

Abdomen External Features:
umbilical hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
anteverted nares
broad nose

Skeletal Skull:
wormian bones
elongated sella turcica
bathrocephaly
failure of suture ossification
thickened skull vault
more
Head And Neck Eyes:
telecanthus
synophrys
long eyelashes
downslanting palpebral fissures
epicanthal folds
more
Skin Nails Hair Skin:
hirsutism

Head And Neck Teeth:
malocclusion
early tooth loss

Head And Neck Head:
bathrocephaly

Abdomen Gastrointestinal:
intestinal malrotation (less common)

Skeletal Feet:
short distal digits
acroosteolysis

Clinical features from OMIM:

102500

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 DLL3 HES7 JAG1 LFNG MESP2 NOTCH1
2 skeleton MP:0005390 9.23 DLL3 HES7 JAG1 LFNG MESP2 NOTCH1

Drugs & Therapeutics for Hajdu-Cheney Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Treprostinil Approved, Investigational Phase 2 81846-19-7 54786 6918140
2 Antihypertensive Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study to Evaluate the Safety and Efficacy of Oral Treprostinil in the Treatment of Calcinosis in Patients With Systemic Sclerosis Active, not recruiting NCT02663895 Phase 2 Oral treprostinil

Search NIH Clinical Center for Hajdu-Cheney Syndrome

Cochrane evidence based reviews: hajdu-cheney syndrome

Genetic Tests for Hajdu-Cheney Syndrome

Genetic tests related to Hajdu-Cheney Syndrome:

# Genetic test Affiliating Genes
1 Hajdu-Cheney Syndrome 29

Anatomical Context for Hajdu-Cheney Syndrome

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

40
Bone, Kidney, Heart, Eye, Brain, Skin, Liver

Publications for Hajdu-Cheney Syndrome

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 164)
# Title Authors PMID Year
1
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 61 56 6
21712856 2012
2
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 61 56 6
21378985 2011
3
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 61 56 6
21378989 2011
4
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 61 56 6
17159511 2007
5
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 61 56 6
8723560 1996
6
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. 61 56
21681853 2011
7
Hajdu--Cheney syndrome: evolution of phenotype and clinical problems. 61 56
11343321 2001
8
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. 61 56
9714016 1998
9
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? 61 56
9220203 1997
10
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome. 61 56
9184252 1997
11
Cystic kidney disease in Hajdu-Cheney syndrome. 61 56
7747781 1995
12
Hajdu-Cheney syndrome. 61 56
8203959 1994
13
Hydrocephalus in Hajdu-Cheney syndrome. 61 56
8445627 1993
14
Hajdu-Cheney syndrome: MR imaging. 61 56
1749477 1991
15
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). 61 56
707523 1978
16
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. 61 56
1249686 1976
17
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. 61 56
4699178 1973
18
Further delineation of Frank-ter Haar syndrome. 56
15523657 2004
19
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. 56
7778598 1995
20
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. 56
8276023 1993
21
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? 56
3409932 1988
22
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. 56
3793511 1986
23
Melnick-Needles syndrome: indication for an autosomal recessive form. 56
7158646 1982
24
Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis. 56
959555 1976
25
The acro-osteolysis syndrome: Morphologic and biochemical studies. 56
1255314 1976
26
Familial acro-osteolysis. 56
4755026 1973
27
ACRO-OSTEOLYSIS. 56
14303950 1965
28
Cranio-skeletal dysplasia. 56
18918373 1948
29
Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu Cheney syndrome. 61
31992595 2020
30
Off-label uses of denosumab in metabolic bone diseases. 61
31454537 2019
31
The Hajdu Cheney mutation sensitizes mice to the osteolytic actions of tumor necrosis factor α. 61
31371452 2019
32
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 61
31077240 2019
33
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. 61
30980954 2019
34
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. 61
30767323 2019
35
Phenotype variability in Hajdu-Cheney syndrome. 61
29698804 2019
36
Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation. 61
30284985 2018
37
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. 61
30329210 2018
38
Mice harboring a Hajdu Cheney Syndrome mutation are sensitized to osteoarthritis. 61
29940267 2018
39
Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. 61
29566451 2018
40
Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. 61
29103128 2018
41
A case of Hajdu-Cheney syndrome associated with psoriatic rheumatism, two causes of acro-osteolysis. 61
28600213 2018
42
Induction of the Hajdu-Cheney Syndrome Mutation in CD19 B Cells in Mice Alters B-Cell Allocation but Not Skeletal Homeostasis. 61
29545197 2018
43
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 61
29618366 2018
44
An unusual presentation of intracranial meningioma in Hajdu-Cheney syndrome. 61
29547200 2018
45
Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders. 61
28941602 2018
46
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. 61
30420927 2018
47
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome. 61
28856714 2018
48
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families. 61
30779700 2018
49
The Hajdu Cheney Mutation Is a Determinant of B-Cell Allocation of the Splenic Marginal Zone. 61
29037852 2018
50
A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome. 61
29176149 2017

Variations for Hajdu-Cheney Syndrome

ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH2 NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)SNV Pathogenic 518450 rs1325403451 1:120458147-120458147 1:119915524-119915524
2 NOTCH2 NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter)SNV Pathogenic 518449 rs1553193485 1:120458267-120458267 1:119915644-119915644
3 NOTCH2 NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs)deletion Pathogenic 463176 rs1553193574 1:120458895-120458896 1:119916272-119916273
4 NOTCH2 NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs)deletion Pathogenic 463175 rs1553193977 1:120462986-120462986 1:119920363-119920363
5 NOTCH2 NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter)SNV Pathogenic 30061 rs387906749 1:120458180-120458180 1:119915557-119915557
6 NOTCH2 NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter)SNV Pathogenic 30060 rs387906748 1:120458450-120458450 1:119915827-119915827
7 NOTCH2 NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter)SNV Pathogenic 30059 rs387906747 1:120458396-120458396 1:119915773-119915773
8 NOTCH2 NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter)SNV Pathogenic 30058 rs1557801639 1:120458226-120458226 1:119915603-119915603
9 NOTCH2 NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter)SNV Pathogenic 30057 rs387906746 1:120458723-120458723 1:119916100-119916100
10 NOTCH2 NOTCH2, 1-BP DEL, 6460Tdeletion Pathogenic 30056
11 NOTCH2 NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs)deletion Pathogenic 30055 rs1557802353 1:120459073-120459073 1:119916450-119916450
12 NOTCH2 NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs)duplication Pathogenic 223003 rs771237928 1:120458435-120458436 1:119915812-119915813
13 NOTCH2 NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs)deletion Pathogenic 571329 rs1557802165 1:120458842-120458842 1:119916219-119916219
14 NOTCH2 NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs)deletion Pathogenic 623649 rs771237928 1:120458436-120458436 1:119915813-119915813
15 NOTCH2 NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)SNV Pathogenic/Likely pathogenic 545566 rs1553193507 1:120458492-120458492 1:119915869-119915869
16 NOTCH2 NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)SNV Likely pathogenic 801539 1:120572599-120572599 1:120029976-120029976
17 NOTCH2 NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs)deletion Likely pathogenic 617549 1:120458425-120458426 1:119915802-119915803
18 NOTCH2 NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=)SNV Conflicting interpretations of pathogenicity 286426 rs61752485 1:120480612-120480612 1:119937989-119937989
19 NOTCH2 NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)SNV Conflicting interpretations of pathogenicity 195987 rs367699419 1:120466379-120466379 1:119923756-119923756
20 NOTCH2 NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr)SNV Uncertain significance 581721 rs1557825800 1:120510229-120510229 1:119967606-119967606
21 NOTCH2 NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)SNV Uncertain significance 291198 rs140832430 1:120458452-120458452 1:119915829-119915829
22 NOTCH2 NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn)SNV Uncertain significance 290966 rs757880322 1:120459094-120459094 1:119916471-119916471
23 NOTCH2 NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile)SNV Uncertain significance 290858 rs747138507 1:120464428-120464428 1:119921805-119921805
24 NOTCH2 NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn)SNV Uncertain significance 289384 rs748876258 1:120459227-120459227 1:119916604-119916604
25 NOTCH2 NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val)SNV Uncertain significance 196925 rs373527990 1:120458389-120458389 1:119915766-119915766
26 NOTCH2 NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)SNV Uncertain significance 134965 rs146014987 1:120480611-120480611 1:119937988-119937988
27 NOTCH2 NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp)SNV Uncertain significance 532029 rs587641573 1:120478098-120478098 1:119935475-119935475
28 NOTCH2 NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val)SNV Uncertain significance 532028 rs1241715192 1:120466480-120466480 1:119923857-119923857
29 NOTCH2 NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg)SNV Uncertain significance 532027 rs1553193747 1:120460370-120460370 1:119917747-119917747
30 NOTCH2 NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr)SNV Uncertain significance 522754 rs1553198769 1:120502084-120502084 1:119959461-119959461
31 NOTCH2 NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)SNV Uncertain significance 289807 rs144936899 1:120512286-120512286 1:119969663-119969663
32 NOTCH2 NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)SNV Uncertain significance 500000 rs140311741 1:120506308-120506308 1:119963685-119963685
33 NOTCH2 NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser)SNV Uncertain significance 573584 rs1557801809 1:120458429-120458429 1:119915806-119915806
34 NOTCH2 NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala)SNV Uncertain significance 650161 1:120484185-120484185 1:119941562-119941562
35 NOTCH2 NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln)SNV Uncertain significance 665564 1:120468135-120468135 1:119925512-119925512
36 NOTCH2 NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val)SNV Uncertain significance 648134 1:120459185-120459185 1:119916562-119916562
37 NOTCH2 NM_024408.4(NOTCH2):c.1915+2dupduplication Uncertain significance 656195 1:120506194-120506195 1:119963571-119963572
38 NOTCH2 NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)SNV Uncertain significance 623701 rs748716440 1:120461985-120461985 1:119919362-119919362
39 NOTCH2 NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)SNV Likely benign 801537 1:120548095-120548095 1:120005472-120005472
40 NOTCH2 NM_024408.4(NOTCH2):c.751+325G>TSNV Likely benign 801536 1:120539295-120539295 1:119996672-119996672
41 NOTCH2 NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro)SNV Likely benign 463177 rs143506822 1:120458348-120458348 1:119915725-119915725
42 NOTCH2 NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=)SNV Benign/Likely benign 463173 rs371875533 1:120479986-120479986 1:119937363-119937363
43 NOTCH2 NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)SNV Benign/Likely benign 286650 rs143236410 1:120459251-120459251 1:119916628-119916628
44 NOTCH2 NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly)SNV Benign 134972 rs61752484 1:120469147-120469147 1:119926524-119926524
45 NOTCH2 NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe)SNV Benign 134978 rs60854092 1:120465007-120465007 1:119922384-119922384
46 NOTCH2 NM_024408.4(NOTCH2):c.3034T>C (p.Leu1012=)SNV Benign 463172 rs77194332 1:120483327-120483327 1:119940704-119940704
47 NOTCH2 NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr)SNV Benign 463169 rs199565938 1:120510194-120510194 1:119967571-119967571
48 NOTCH2 NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=)SNV Benign 195907 rs6692009 1:120468134-120468134 1:119925511-119925511
49 NOTCH2 NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=)SNV Benign 261702 rs7543643 1:120480583-120480583 1:119937960-119937960
50 NOTCH2 NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=)SNV Benign 261703 rs17024525 1:120468425-120468425 1:119925802-119925802

Expression for Hajdu-Cheney Syndrome

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

Pathways for Hajdu-Cheney Syndrome

Pathways related to Hajdu-Cheney Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 RBPJ NOTCH2 NOTCH1 LFNG JAG1 HES7
2
Show member pathways
12.68 RBPJ NOTCH2 NOTCH1 LFNG JAG1
3
Show member pathways
12.56 NOTCH2 NOTCH1 JAG1 DLL3
4
Show member pathways
12.47 NOTCH2 NOTCH1 JAG1 DLL3
5
Show member pathways
12.43 RBPJ NOTCH2 NOTCH1 JAG1 DLL3
6
Show member pathways
12.31 RBPJ NOTCH2 NOTCH1 LFNG JAG1 DLL3
7
Show member pathways
12.07 RBPJ NOTCH1 LFNG JAG1
8
Show member pathways
11.93 RBPJ NOTCH2 NOTCH1 JAG1
9 11.91 RBPJ NOTCH2 NOTCH1
10 11.89 RBPJ NOTCH2 NOTCH1 LFNG JAG1 DLL3
11
Show member pathways
11.83 RBPJ NOTCH2 NOTCH1 LFNG
12 11.71 RBPJ NOTCH2 NOTCH1 DLL3
13 11.68 NOTCH2 NOTCH1 JAG1
14 11.36 RBPJ NOTCH1 JAG1
15 11.18 RBPJ NOTCH2 NOTCH1
16 11.03 RBPJ NOTCH2 NOTCH1 LFNG
17 10.8 NOTCH1 JAG1
18 10.8 NOTCH1 JAG1 DLL3
19 10.45 RBPJ NOTCH2 NOTCH1 JAG1 DLL3
20 10.3 NOTCH1 MESP2 LFNG HES7

GO Terms for Hajdu-Cheney Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 RBPJ NOTCH1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.11 NOTCH2 NOTCH1 MESP2 LFNG JAG1 HES7
2 regulation of transcription, DNA-templated GO:0006355 10.06 ZNF587 ZNF546 ZNF417 ZNF341 RBPJ NOTCH2
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.88 RBPJ NOTCH2 NOTCH1
4 animal organ morphogenesis GO:0009887 9.87 NOTCH2 LFNG JAG1
5 hemopoiesis GO:0030097 9.81 RBPJ NOTCH2 JAG1
6 negative regulation of cell differentiation GO:0045596 9.8 RBPJ NOTCH1 JAG1
7 humoral immune response GO:0006959 9.78 RBPJ NOTCH2 NOTCH1
8 keratinocyte differentiation GO:0030216 9.77 RBPJ NOTCH1 JAG1
9 blood vessel remodeling GO:0001974 9.7 RBPJ JAG1
10 positive regulation of Ras protein signal transduction GO:0046579 9.7 NOTCH2 NOTCH1
11 negative regulation of neurogenesis GO:0050768 9.7 NOTCH1 DLL3
12 aortic valve morphogenesis GO:0003180 9.69 NOTCH1 JAG1
13 neuronal stem cell population maintenance GO:0097150 9.69 NOTCH1 JAG1
14 positive regulation of BMP signaling pathway GO:0030513 9.69 RBPJ NOTCH2 NOTCH1
15 negative regulation of ossification GO:0030279 9.68 RBPJ NOTCH1
16 regulation of Notch signaling pathway GO:0008593 9.68 NOTCH1 LFNG
17 myeloid dendritic cell differentiation GO:0043011 9.68 RBPJ NOTCH2
18 positive regulation of transcription of Notch receptor target GO:0007221 9.68 RBPJ NOTCH1
19 cell fate determination GO:0001709 9.67 NOTCH2 JAG1
20 ventricular trabecula myocardium morphogenesis GO:0003222 9.67 RBPJ NOTCH1
21 negative regulation of stem cell differentiation GO:2000737 9.67 NOTCH1 JAG1
22 positive regulation of Notch signaling pathway GO:0045747 9.67 RBPJ NOTCH1 LFNG JAG1
23 left/right axis specification GO:0070986 9.66 NOTCH2 NOTCH1
24 cardiac septum morphogenesis GO:0060411 9.66 NOTCH1 JAG1
25 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.65 RBPJ NOTCH1
26 response to muramyl dipeptide GO:0032495 9.65 NOTCH1 JAG1
27 cardiac left ventricle morphogenesis GO:0003214 9.65 RBPJ NOTCH1
28 morphogenesis of an epithelial sheet GO:0002011 9.64 NOTCH2 JAG1
29 marginal zone B cell differentiation GO:0002315 9.64 NOTCH2 LFNG
30 glomerular visceral epithelial cell development GO:0072015 9.63 NOTCH2 JAG1
31 inflammatory response to antigenic stimulus GO:0002437 9.63 RBPJ NOTCH2 NOTCH1
32 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.62 RBPJ NOTCH1
33 regulation of somitogenesis GO:0014807 9.61 NOTCH1 LFNG
34 pulmonary valve morphogenesis GO:0003184 9.61 NOTCH2 NOTCH1 JAG1
35 ciliary body morphogenesis GO:0061073 9.59 NOTCH2 JAG1
36 regulation of developmental process GO:0050793 9.58 NOTCH2 NOTCH1
37 endocardium development GO:0003157 9.58 RBPJ NOTCH1
38 distal tubule development GO:0072017 9.56 NOTCH1 JAG1
39 negative regulation of growth rate GO:0045967 9.55 NOTCH2 NOTCH1
40 somitogenesis GO:0001756 9.55 RBPJ MESP2 LFNG HES7 DLL3
41 auditory receptor cell fate commitment GO:0009912 9.54 RBPJ NOTCH1
42 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.52 RBPJ NOTCH1
43 interleukin-4 secretion GO:0072602 9.5 RBPJ NOTCH2 NOTCH1
44 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.49 NOTCH1 JAG1
45 endocardium morphogenesis GO:0003160 9.48 RBPJ NOTCH1
46 compartment pattern specification GO:0007386 9.43 NOTCH1 LFNG DLL3
47 Notch signaling involved in heart development GO:0061314 9.26 RBPJ NOTCH2 NOTCH1 JAG1
48 Notch signaling pathway GO:0007219 9.17 RBPJ NOTCH2 NOTCH1 MESP2 JAG1 HES7

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

# Name GO ID Score Top Affiliating Genes
1 Notch binding GO:0005112 8.8 NOTCH1 JAG1 DLL3

Sources for Hajdu-Cheney Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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