HJCYS
MCID: HJD001
MIFTS: 62

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 57 12 73 20 43 58 72 36 29 13 6 44 15 70
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible 57 12 20 43 58 72
Arthrodentoosteodysplasia 57 12 20 43 58 72
Cheney Syndrome 57 12 20 43 58 72
Serpentine Fibula-Polycystic Kidney Syndrome 57 12 43 72
Acroosteolysis Dominant Type 20 43 58 70
Hjcys 57 12 43 72
Sfpks 57 12 43 72
Serpentine Fibula-Polycystic Kidney Syndrome; Sfpks 57
Hereditary Osteodysplasia with Acro-Osteolysis 43
Serpentine Fibula-Polycystic Kidneys Syndrome 20
Cranioskeletal Dysplasia with Acro-Osteolysis 43
Serpentine Fibula Polycystic Kidney Syndrome 70
Arthro-Dento-Osteo Dysplasia 43
Serpentine Fibula Syndrome 72
Familial Osteodysplasia 43
Acrodentoosteodysplasia 58
Syndrome, Hajdu-Cheney 39
Acro-Osteolysis 44
Hcs 72

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®:

57 (Updated 20-May-2021)
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

MedlinePlus Genetics : 43 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 heart septal defect and ventricular septal defect. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch Receptor 2), and among its related pathways/superpathways are Notch signaling pathway and Signaling by GPCR. Affiliated tissues include bone, kidney and heart, and related phenotypes are osteopenia and skeletal dysplasia

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.

GARD : 20 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® : 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 241)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.5 NOTCH1 JAG1 HEY2
2 ventricular septal defect 30.5 NOTCH1 NFATC1 JAG1
3 patent ductus arteriosus 1 30.4 NOTCH2 NOTCH1 JAG1
4 meningocele 30.4 NOTCH3 MESP2 HES7
5 scoliosis 29.7 TNFSF11 MESP2 LFNG JAG1 HES7 DLL3
6 dysostosis 29.4 TNFSF11 MESP2 LFNG HES7 DLL3
7 lateral meningocele syndrome 29.2 NOTCH3 MESP2 HEYL HEY2 HEY1 HES7
8 alagille syndrome 1 26.8 RBPJ NOTCH3 NOTCH2 NOTCH1 MESP2 LFNG
9 premature aging syndrome, penttinen type 11.5
10 osteodysplasia, familial, anderson type 11.4
11 holocarboxylase synthetase deficiency 11.3
12 hypotonia-cystinuria syndrome 11.2
13 primary hypertrophic osteoarthropathy 11.2
14 haim-munk syndrome 11.2
15 van bogaert-hozay syndrome 11.2
16 idiopathic phalangeal acro-osteolysis 11.2
17 singleton-merten syndrome 1 11.2
18 mandibuloacral dysplasia with type a lipodystrophy 11.2
19 singleton-merten syndrome 2 11.2
20 warburg-cinotti syndrome 11.2
21 singleton-merten syndrome 11.2
22 acroosteolysis 11.0
23 osteoporosis 10.7
24 bone mineral density quantitative trait locus 8 10.7
25 bone mineral density quantitative trait locus 15 10.7
26 bone resorption disease 10.7
27 osteochondrodysplasia 10.6
28 bone disease 10.5
29 systemic scleroderma 10.5
30 hydrocephalus 10.4
31 cystic kidney disease 10.4
32 periodontitis 10.4
33 chondrosarcoma 10.4
34 syringomyelia, noncommunicating isolated 10.4
35 polycystic kidney disease 10.4
36 syringomyelia 10.4
37 splenomegaly 10.4
38 calcinosis 10.4
39 raynaud phenomenon 10.4
40 oliver syndrome 10.3 RBPJ NOTCH1
41 melnick-needles syndrome 10.3
42 glomerulonephritis 10.3
43 hypermobile ehlers-danlos syndrome 10.3
44 neuropathy, hereditary sensory and autonomic, type iia 10.3
45 lacrimal gland adenoid cystic carcinoma 10.3 NOTCH2 NOTCH1
46 metatarsus adductus 10.3
47 osteopetrosis 10.2
48 pustulosis of palm and sole 10.2
49 psoriasis 10.2
50 nodular regenerative hyperplasia 10.2 NOTCH2 NOTCH1 JAG1

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 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
11 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000704
13 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
14 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
19 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
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 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
25 prominent occiput 58 31 frequent (33%) Frequent (79-30%) HP:0000269
26 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
27 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
28 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
29 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
30 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
31 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
32 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
33 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
34 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
35 platybasia 58 31 frequent (33%) Frequent (79-30%) HP:0002691
36 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
37 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
38 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
39 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
40 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
41 biconcave vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004586
42 absent frontal sinuses 58 31 frequent (33%) Frequent (79-30%) HP:0002688
43 hypoplastic 5th lumbar vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0008424
44 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
45 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
46 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
47 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
48 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
49 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
50 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Head And Neck Neck:
short neck

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Nose:
anteverted nares
broad nose

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Spine:
kyphoscoliosis
cervical instability
tall lumbar vertebral bodies
narrow disc space
biconcave vertebrae
more
Head And Neck Eyes:
telecanthus
synophrys
long eyelashes
downslanting palpebral fissures
epicanthal folds
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

Neurologic Central Nervous System:
hydrocephalus
normal intelligence

Skeletal:
osteopenia
osteoporosis
joint laxity
pathologic fractures

Abdomen External Features:
umbilical hernia

Growth Height:
short stature

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

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

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
wormian bones
elongated sella turcica
bathrocephaly
failure of suture ossification
thickened skull vault
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hajdu-Cheney Syndrome:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 DLL1 DLL3 HES7 HEY1 HEY2 HEYL
2 embryo MP:0005380 10.39 DLL1 DLL3 HES7 HEY1 HEY2 JAG1
3 cardiovascular system MP:0005385 10.36 DLL1 HEY1 HEY2 HEYL JAG1 LFNG
4 mortality/aging MP:0010768 10.31 DLL1 DLL3 HES7 HEY1 HEY2 HEYL
5 cellular MP:0005384 10.27 DLL1 HEY1 HEYL JAG1 MESP2 NFATC1
6 craniofacial MP:0005382 10.27 DLL3 HEY1 HEY2 JAG1 JAG2 NFATC1
7 homeostasis/metabolism MP:0005376 10.22 DLL1 HEY2 HEYL JAG1 JAG2 NFATC1
8 endocrine/exocrine gland MP:0005379 10.19 DLL1 JAG1 JAG2 LFNG NOTCH1 NOTCH2
9 hematopoietic system MP:0005397 10.19 DLL1 JAG1 JAG2 LFNG NFATC1 NOTCH1
10 muscle MP:0005369 10.18 DLL1 DLL3 HEY1 HEY2 HEYL JAG1
11 nervous system MP:0003631 10.13 DLL1 DLL3 HEY1 HEY2 HEYL JAG1
12 integument MP:0010771 10.11 JAG1 JAG2 MESP2 NFATC1 NOTCH1 NOTCH2
13 digestive/alimentary MP:0005381 10.1 DLL1 JAG1 JAG2 NFATC1 NOTCH1 NOTCH2
14 limbs/digits/tail MP:0005371 10.09 DLL1 DLL3 HES7 JAG2 LFNG MESP2
15 hearing/vestibular/ear MP:0005377 10.05 DLL1 DLL3 JAG1 JAG2 LFNG NOTCH1
16 normal MP:0002873 9.85 DLL1 HEY1 HEYL JAG1 MESP2 NOTCH1
17 no phenotypic analysis MP:0003012 9.8 HEYL JAG1 JAG2 LFNG MESP2 NOTCH2
18 respiratory system MP:0005388 9.61 HEY2 JAG2 LFNG NFATC1 NOTCH1 NOTCH2
19 skeleton MP:0005390 9.44 DLL1 DLL3 HES7 JAG1 JAG2 LFNG

Drugs & Therapeutics for Hajdu-Cheney Syndrome

Search Clinical Trials , 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 NOTCH2

Anatomical Context for Hajdu-Cheney Syndrome

MalaCards organs/tissues related to Hajdu-Cheney Syndrome:

40
Bone, Kidney, Heart, Spinal Cord, Brain, B Cells, Lung

Publications for Hajdu-Cheney Syndrome

Articles related to Hajdu-Cheney Syndrome:

(show top 50) (show all 175)
# Title Authors PMID Year
1
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome. 57 6 61
21712856 2012
2
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. 61 6 57
21681853 2011
3
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 61 6 57
21378985 2011
4
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 6 57 61
21378989 2011
5
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 6 57 61
17159511 2007
6
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. 61 57 6
8723560 1996
7
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 6 61
27312922 2016
8
Hajdu--Cheney syndrome: evolution of phenotype and clinical problems. 61 57
11343321 2001
9
Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. 57 61
9714016 1998
10
Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome? 57 61
9220203 1997
11
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome. 61 57
9184252 1997
12
Cystic kidney disease in Hajdu-Cheney syndrome. 61 57
7747781 1995
13
Hajdu-Cheney syndrome. 61 57
8203959 1994
14
Hydrocephalus in Hajdu-Cheney syndrome. 57 61
8445627 1993
15
Hajdu-Cheney syndrome: MR imaging. 57 61
1749477 1991
16
Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the Hajdu-Cheney syndrome. 61 57
3527178 1986
17
Hereditary osteodysplasia with acro-osteolysis. (The Hajdu-Cheney syndrome). 57 61
707523 1978
18
The Hajdu-Cheney syndrome. Report of two cases and review of the literature. 61 57
1249686 1976
19
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome. 57 61
4699178 1973
20
Further delineation of Frank-ter Haar syndrome. 57
15523657 2004
21
PEST sequences and regulation by proteolysis. 6
8755249 1996
22
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. 57
7778598 1995
23
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. 57
8276023 1993
24
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? 57
3409932 1988
25
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. 57
3793511 1986
26
Melnick-Needles syndrome: indication for an autosomal recessive form. 57
7158646 1982
27
Idiopathic nonfamilial acro-osteolysis with cortical defects and mandibular ramus osteolysis. 57
959555 1976
28
The acro-osteolysis syndrome: Morphologic and biochemical studies. 57
1255314 1976
29
Familial acro-osteolysis. 57
4755026 1973
30
ACRO-OSTEOLYSIS. 57
14303950 1965
31
Cranio-skeletal dysplasia. 57
18918373 1948
32
Skeletal characterization in a patient with Hajdu-Cheney syndrome undergoing total knee arthroplasty. 61
33742215 2021
33
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature. 61
33520214 2021
34
Hand Deformities in Hajdu-Cheney Syndrome: A Case Series of 3 Patients Across 3 Consecutive Generations. 61
32241674 2021
35
Band acro-osteolysis in systemic sclerosis. 61
33493313 2021
36
A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment. 61
32772338 2021
37
Correction to: A mutation in NOTCH2 gene first associated with Hajdu-Cheney syndrome in a Greek family: diversity in phenotype and response to treatment. 61
33025564 2020
38
Obstructive hydrocephalus treated with endoscopic third ventriculostomy in a patient with Hajdu-Cheney syndrome: case report. 61
32796142 2020
39
Hajdu-Cheney Syndrome: A Systematic Review of the Literature. 61
32854429 2020
40
Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis. 61
32474964 2020
41
Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review. 61
32143606 2020
42
Antisense oligonucleotides targeting Notch2 ameliorate the osteopenic phenotype in a mouse model of Hajdu-Cheney syndrome. 61
31992595 2020
43
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. 61
30980954 2020
44
Off-label uses of denosumab in metabolic bone diseases. 61
31454537 2019
45
The Hajdu Cheney mutation sensitizes mice to the osteolytic actions of tumor necrosis factor α. 61
31371452 2019
46
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review. 61
31077240 2019
47
Fatal case of Hajdu-Cheney syndrome with idiopathic pulmonary hemosiderosis. 61
30767323 2019
48
Phenotype variability in Hajdu-Cheney syndrome. 61
29698804 2019
49
Notch signaling suppresses glucose metabolism in mesenchymal progenitors to restrict osteoblast differentiation. 61
30284985 2018
50
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation. 61
30329210 2018

Variations for Hajdu-Cheney Syndrome

ClinVar genetic disease variations for Hajdu-Cheney Syndrome:

6 (show top 50) (show all 104)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOTCH2 NM_024408.4(NOTCH2):c.6272del (p.Phe2091fs) Deletion Pathogenic 30055 rs1557802353 GRCh37: 1:120459073-120459073
GRCh38: 1:119916450-119916450
2 NOTCH2 NOTCH2, 1-BP DEL, 6460T Deletion Pathogenic 30056 GRCh37:
GRCh38:
3 NOTCH2 NM_024408.4(NOTCH2):c.6622C>T (p.Gln2208Ter) SNV Pathogenic 30057 rs387906746 GRCh37: 1:120458723-120458723
GRCh38: 1:119916100-119916100
4 NOTCH2 NM_024408.4(NOTCH2):c.7119T>G (p.Tyr2373Ter) SNV Pathogenic 30058 rs1557801639 GRCh37: 1:120458226-120458226
GRCh38: 1:119915603-119915603
5 NOTCH2 NM_024408.4(NOTCH2):c.6949C>T (p.Gln2317Ter) SNV Pathogenic 30059 rs387906747 GRCh37: 1:120458396-120458396
GRCh38: 1:119915773-119915773
6 NOTCH2 NM_024408.4(NOTCH2):c.6895G>T (p.Glu2299Ter) SNV Pathogenic 30060 rs387906748 GRCh37: 1:120458450-120458450
GRCh38: 1:119915827-119915827
7 NOTCH2 NM_024408.4(NOTCH2):c.7165C>T (p.Gln2389Ter) SNV Pathogenic 30061 rs387906749 GRCh37: 1:120458180-120458180
GRCh38: 1:119915557-119915557
8 NOTCH2 NM_024408.4(NOTCH2):c.6426_6427insTT (p.Glu2143fs) Insertion Pathogenic 951363 GRCh37: 1:120458918-120458919
GRCh38: 1:119916295-119916296
9 NOTCH2 NM_024408.4(NOTCH2):c.5123_5132delinsAGA (p.Ser1708_Leu1711delinsTer) Indel Pathogenic 1028812 GRCh37: 1:120464940-120464949
GRCh38: 1:119922317-119922326
10 NOTCH2 NM_024408.4(NOTCH2):c.6403_6404del (p.Leu2135fs) Microsatellite Pathogenic 946387 GRCh37: 1:120458941-120458942
GRCh38: 1:119916318-119916319
11 NOTCH2 NM_024408.4(NOTCH2):c.4174C>T (p.Gln1392Ter) SNV Pathogenic 845754 GRCh37: 1:120468265-120468265
GRCh38: 1:119925642-119925642
12 NOTCH2 NM_024408.4(NOTCH2):c.6877del (p.His2293fs) Deletion Pathogenic 976082 GRCh37: 1:120458468-120458468
GRCh38: 1:119915845-119915845
13 NOTCH2 NM_024408.4(NOTCH2):c.7090del (p.Gln2364fs) Deletion Pathogenic 973762 GRCh37: 1:120458255-120458255
GRCh38: 1:119915632-119915632
14 NOTCH2 NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs) Deletion Pathogenic 623649 rs771237928 GRCh37: 1:120458436-120458436
GRCh38: 1:119915813-119915813
15 NOTCH2 NM_024408.4(NOTCH2):c.6503del (p.Pro2168fs) Deletion Pathogenic 571329 rs1557802165 GRCh37: 1:120458842-120458842
GRCh38: 1:119916219-119916219
16 NOTCH2 NM_024408.4(NOTCH2):c.7078C>T (p.Gln2360Ter) SNV Pathogenic 518449 rs1553193485 GRCh37: 1:120458267-120458267
GRCh38: 1:119915644-119915644
17 NOTCH2 NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) SNV Pathogenic 518450 rs1325403451 GRCh37: 1:120458147-120458147
GRCh38: 1:119915524-119915524
18 NOTCH2 NM_024408.4(NOTCH2):c.6449_6450del (p.Pro2150fs) Deletion Pathogenic 463176 rs1553193574 GRCh37: 1:120458895-120458896
GRCh38: 1:119916272-119916273
19 NOTCH2 NM_024408.4(NOTCH2):c.5345del (p.Asp1782fs) Deletion Pathogenic 463175 rs1553193977 GRCh37: 1:120462986-120462986
GRCh38: 1:119920363-119920363
20 NOTCH2 NM_024408.4(NOTCH2):c.6909dup (p.Ile2304fs) Duplication Pathogenic 223003 rs771237928 GRCh37: 1:120458435-120458436
GRCh38: 1:119915812-119915813
21 NOTCH2 NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) SNV Pathogenic/Likely pathogenic 545566 rs1553193507 GRCh37: 1:120458492-120458492
GRCh38: 1:119915869-119915869
22 NOTCH2 NM_024408.4(NOTCH2):c.6919_6920del (p.Phe2307fs) Deletion Likely pathogenic 617549 rs1570654979 GRCh37: 1:120458425-120458426
GRCh38: 1:119915802-119915803
23 NOTCH2 NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) SNV Likely pathogenic 801539 rs1174406807 GRCh37: 1:120572599-120572599
GRCh38: 1:120029976-120029976
24 NOTCH2 NM_024408.4(NOTCH2):c.4778A>G (p.Tyr1593Cys) SNV Uncertain significance 864646 GRCh37: 1:120466341-120466341
GRCh38: 1:119923718-119923718
25 NOTCH2 NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) SNV Uncertain significance 581721 rs1557825800 GRCh37: 1:120510229-120510229
GRCh38: 1:119967606-119967606
26 NOTCH2 NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) SNV Uncertain significance 289384 rs748876258 GRCh37: 1:120459227-120459227
GRCh38: 1:119916604-119916604
27 NOTCH2 NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) SNV Uncertain significance 573584 rs1557801809 GRCh37: 1:120458429-120458429
GRCh38: 1:119915806-119915806
28 NOTCH2 NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln) SNV Uncertain significance 665564 rs747190078 GRCh37: 1:120468135-120468135
GRCh38: 1:119925512-119925512
29 NOTCH2 NM_024408.4(NOTCH2):c.1915+2dup Duplication Uncertain significance 656195 rs1570696957 GRCh37: 1:120506194-120506195
GRCh38: 1:119963571-119963572
30 NOTCH2 NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) SNV Uncertain significance 290966 rs757880322 GRCh37: 1:120459094-120459094
GRCh38: 1:119916471-119916471
31 NOTCH2 NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) SNV Uncertain significance 623701 rs748716440 GRCh37: 1:120461985-120461985
GRCh38: 1:119919362-119919362
32 NOTCH2 NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala) SNV Uncertain significance 650161 rs992092842 GRCh37: 1:120484185-120484185
GRCh38: 1:119941562-119941562
33 NOTCH2 NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val) SNV Uncertain significance 648134 rs774262327 GRCh37: 1:120459185-120459185
GRCh38: 1:119916562-119916562
34 NOTCH2 NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) SNV Uncertain significance 134965 rs146014987 GRCh37: 1:120480611-120480611
GRCh38: 1:119937988-119937988
35 NOTCH2 NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) SNV Uncertain significance 291198 rs140832430 GRCh37: 1:120458452-120458452
GRCh38: 1:119915829-119915829
36 NOTCH2 NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile) SNV Uncertain significance 290858 rs747138507 GRCh37: 1:120464428-120464428
GRCh38: 1:119921805-119921805
37 NOTCH2 NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) SNV Uncertain significance 196925 rs373527990 GRCh37: 1:120458389-120458389
GRCh38: 1:119915766-119915766
38 NOTCH2 NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) SNV Uncertain significance 532029 rs587641573 GRCh37: 1:120478098-120478098
GRCh38: 1:119935475-119935475
39 NOTCH2 NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) SNV Uncertain significance 532028 rs1241715192 GRCh37: 1:120466480-120466480
GRCh38: 1:119923857-119923857
40 NOTCH2 NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg) SNV Uncertain significance 532027 rs1553193747 GRCh37: 1:120460370-120460370
GRCh38: 1:119917747-119917747
41 NOTCH2 NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) SNV Uncertain significance 522754 rs1553198769 GRCh37: 1:120502084-120502084
GRCh38: 1:119959461-119959461
42 NOTCH2 NM_024408.4(NOTCH2):c.3166A>G (p.Thr1056Ala) SNV Uncertain significance 934338 GRCh37: 1:120483195-120483195
GRCh38: 1:119940572-119940572
43 NOTCH2 NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) SNV Uncertain significance 289807 rs144936899 GRCh37: 1:120512286-120512286
GRCh38: 1:119969663-119969663
44 NOTCH2 NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) SNV Uncertain significance 952730 GRCh37: 1:120462032-120462032
GRCh38: 1:119919409-119919409
45 NOTCH2 NM_024408.4(NOTCH2):c.6334A>G (p.Met2112Val) SNV Uncertain significance 957155 GRCh37: 1:120459011-120459011
GRCh38: 1:119916388-119916388
46 NOTCH2 NM_024408.4(NOTCH2):c.4045G>A (p.Val1349Met) SNV Uncertain significance 957978 GRCh37: 1:120468394-120468394
GRCh38: 1:119925771-119925771
47 NOTCH2 NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) SNV Uncertain significance 593276 rs142462128 GRCh37: 1:120465288-120465288
GRCh38: 1:119922665-119922665
48 NOTCH2 NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=) SNV Uncertain significance 196792 rs587718458 GRCh37: 1:120461087-120461087
GRCh38: 1:119918464-119918464
49 NOTCH2 NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr) SNV Uncertain significance 594642 rs1557802029 GRCh37: 1:120458660-120458660
GRCh38: 1:119916037-119916037
50 NOTCH2 NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu) SNV Uncertain significance 970952 GRCh37: 1:120480021-120480021
GRCh38: 1:119937398-119937398

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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.09 RBPJ NOTCH3 NOTCH2 NOTCH1 NFATC1 LFNG
2
Show member pathways
13.66 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
3
Show member pathways
13.06 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG1
4 12.88 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1 HEYL
5
Show member pathways
12.8 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG2
6
Show member pathways
12.7 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1 DLL3
7
Show member pathways
12.67 RBPJ NOTCH3 NOTCH2 NOTCH1 NFATC1 JAG2
8
Show member pathways
12.56 TNFSF11 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
9
Show member pathways
12.24 RBPJ NOTCH1 LFNG JAG2 JAG1 HEY2
10
Show member pathways
12.18 RBPJ NOTCH2 NOTCH1 JAG2 JAG1 DLL1
11 12.17 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG2
12
Show member pathways
12.07 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG
13 12.06 RBPJ NOTCH3 NOTCH2 NOTCH1
14 12.05 RBPJ NOTCH3 NOTCH2 NOTCH1 HEY2 DLL3
15
Show member pathways
11.98 NOTCH3 NOTCH2 NOTCH1
16
Show member pathways
11.92 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG2
17 11.9 NOTCH3 NOTCH2 NOTCH1
18 11.87 NOTCH3 NOTCH2 NOTCH1
19 11.86 NOTCH3 NOTCH2 NOTCH1 JAG1
20 11.69 RBPJ NOTCH2 NOTCH1 LFNG JAG1 HES7
21 11.57 RBPJ NOTCH1 HEY2 HEY1
22 11.55 RBPJ NOTCH1 JAG2 JAG1
23 11.54 NOTCH1 NFATC1 HEY2 HEY1
24 11.46 RBPJ NOTCH1 DLL1
25 11.41 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG
26 11.16 NOTCH1 JAG2 JAG1 DLL3 DLL1
27 11.04 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1
28 10.87 NOTCH1 MESP2 LFNG HES7 DLL1
29 10.86 NOTCH1 JAG1

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 chromatin GO:0000785 9.5 RBPJ NFATC1 MESP2 HEYL HEY2 HEY1
2 adherens junction GO:0005912 9.33 NOTCH1 JAG1 DLL1
3 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 top 50) (show all 92)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.32 RBPJ NOTCH2 NOTCH1 NFATC1 MESP2 HEYL
2 regulation of transcription, DNA-templated GO:0006355 10.27 RBPJ NOTCH3 NOTCH2 NOTCH1 NFATC1 MESP2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.26 TNFSF11 RBPJ NOTCH1 NFATC1 JAG1 HEYL
4 cell differentiation GO:0030154 10.25 TNFSF11 NOTCH3 NOTCH2 NOTCH1 JAG2 DLL3
5 negative regulation of transcription by RNA polymerase II GO:0000122 10.23 RBPJ NOTCH2 NOTCH1 HEYL HEY2 HEY1
6 negative regulation of transcription, DNA-templated GO:0045892 10.18 RBPJ NOTCH1 HEYL HEY2 HEY1 HES7
7 positive regulation of gene expression GO:0010628 10.16 TNFSF11 RBPJ NOTCH1 HEY2 HEY1 DLL1
8 negative regulation of gene expression GO:0010629 10.06 NOTCH2 NOTCH1 HEYL HEY2
9 angiogenesis GO:0001525 10.05 RBPJ NOTCH1 JAG1 HEY1
10 regulation of cell proliferation GO:0042127 10.04 RBPJ NOTCH1 JAG2 JAG1
11 transcription initiation from RNA polymerase II promoter GO:0006367 10.03 RBPJ NOTCH3 NOTCH2 NOTCH1
12 animal organ morphogenesis GO:0009887 10.03 TNFSF11 NOTCH2 LFNG JAG1
13 anterior/posterior pattern specification GO:0009952 9.99 HEYL HEY2 HEY1 HES7
14 hemopoiesis GO:0030097 9.96 RBPJ NOTCH2 JAG1 DLL1
15 negative regulation of neuron differentiation GO:0045665 9.95 NOTCH1 JAG1 HEY1 DLL1
16 negative regulation of cell differentiation GO:0045596 9.95 RBPJ NOTCH1 JAG1 DLL1
17 skeletal system development GO:0001501 9.94 JAG2 HES7 DLL3
18 outflow tract morphogenesis GO:0003151 9.94 RBPJ NOTCH1 HEYL HEY2
19 determination of left/right symmetry GO:0007368 9.92 NOTCH2 NOTCH1 DLL1
20 cell fate commitment GO:0045165 9.92 RBPJ NOTCH1 HEY2
21 heart looping GO:0001947 9.92 NOTCH2 NOTCH1 DLL1
22 negative regulation of Notch signaling pathway GO:0045746 9.92 NOTCH3 HEY2 HEY1 DLL1
23 positive regulation of Notch signaling pathway GO:0045747 9.92 RBPJ NOTCH1 JAG2 JAG1 DLL1
24 keratinocyte differentiation GO:0030216 9.91 RBPJ NOTCH1 JAG1
25 humoral immune response GO:0006959 9.91 RBPJ NOTCH2 NOTCH1
26 cell communication GO:0007154 9.91 JAG2 JAG1 DLL1
27 positive regulation of cardiac muscle cell proliferation GO:0060045 9.9 RBPJ NOTCH1 HEY2
28 positive regulation of BMP signaling pathway GO:0030513 9.88 RBPJ NOTCH2 NOTCH1
29 somitogenesis GO:0001756 9.88 RBPJ LFNG HES7 DLL3 DLL1
30 inflammatory response to antigenic stimulus GO:0002437 9.86 RBPJ NOTCH2 NOTCH1
31 neuronal stem cell population maintenance GO:0097150 9.85 NOTCH1 JAG1 DLL1
32 cell fate determination GO:0001709 9.85 NOTCH2 JAG1 DLL1
33 labyrinthine layer blood vessel development GO:0060716 9.85 RBPJ HEY2 HEY1
34 endocardial cushion morphogenesis GO:0003203 9.85 NOTCH1 HEYL HEY1
35 positive regulation of transcription of Notch receptor target GO:0007221 9.84 RBPJ NOTCH3 NOTCH1 HEYL
36 left/right axis specification GO:0070986 9.83 NOTCH2 NOTCH1 DLL1
37 ventricular trabecula myocardium morphogenesis GO:0003222 9.83 RBPJ NOTCH1 HEY2
38 cardiac left ventricle morphogenesis GO:0003214 9.82 RBPJ NOTCH1 HEY2
39 negative regulation of biomineral tissue development GO:0070168 9.81 NOTCH1 HEY2 HEY1
40 cardiac septum morphogenesis GO:0060411 9.81 NOTCH1 JAG1 HEY2 HEY1
41 marginal zone B cell differentiation GO:0002315 9.8 NOTCH2 LFNG DLL1
42 dorsal aorta morphogenesis GO:0035912 9.8 RBPJ HEY2 HEY1
43 cardiac epithelial to mesenchymal transition GO:0060317 9.8 NOTCH1 HEYL HEY2 HEY1
44 ventricular septum morphogenesis GO:0060412 9.8 RBPJ NOTCH1 HEYL HEY2 HEY1
45 regulation of neurogenesis GO:0050767 9.8 NOTCH1 HEYL HEY2 HEY1 HES7 DLL1
46 Notch signaling involved in heart development GO:0061314 9.8 RBPJ NOTCH2 NOTCH1 JAG1 HEYL HEY2
47 regulation of somitogenesis GO:0014807 9.79 NOTCH1 LFNG DLL1
48 negative regulation of neurogenesis GO:0050768 9.77 NOTCH1 DLL3
49 negative regulation of myoblast differentiation GO:0045662 9.77 NOTCH1 DLL1
50 positive regulation of osteoclast differentiation GO:0045672 9.77 TNFSF11 NOTCH2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.95 RBPJ NFATC1 MESP2 HEYL HEY2 HEY1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.91 RBPJ NFATC1 MESP2 HEYL HEY2 HEY1
3 sequence-specific double-stranded DNA binding GO:1990837 9.83 NFATC1 MESP2 HEY2 HEY1 HES7
4 DNA-binding transcription factor activity GO:0003700 9.8 RBPJ NFATC1 MESP2 HEYL HEY2 HEY1
5 calcium ion binding GO:0005509 9.8 NOTCH3 NOTCH2 NOTCH1 JAG2 JAG1 DLL3
6 protein dimerization activity GO:0046983 9.55 MESP2 HEYL HEY2 HEY1 HES7
7 transcription factor binding GO:0008134 9.43 RBPJ NFATC1 HEYL HEY2 HEY1 HES7
8 Notch binding GO:0005112 9.02 NOTCH1 JAG2 JAG1 DLL3 DLL1

Sources for Hajdu-Cheney Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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