MCID: CRN037
MIFTS: 65

Craniosynostosis

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

Aliases & Classifications for Craniosynostosis

MalaCards integrated aliases for Craniosynostosis:

Name: Craniosynostosis 38 12 50 51 29 52 14 69
Premature Closure of Cranial Sutures 12
Craniosynostosis Syndrome 29
Craniosynostoses 42
Craniostenosis 50
Cso 50

Classifications:



External Ids:

Disease Ontology 12 DOID:2340
ICD10 33 Q75.0
MeSH 42 D003398
NCIt 47 C84655
UMLS 69 C0010278

Summaries for Craniosynostosis

NINDS : 51 Craniosynostosis is a birth defect of the skull characterized by the premature closure of one or more of the fibrous joints between the bones of the skull (called the cranial sutures) before brain growth is complete. Closure of a single suture is most common. Normally the skull expands uniformly to accommodate the growth of the brain; premature closure of a single suture restricts the growth in that part of the skull and promotes growth in other parts of the skull where sutures remain open. This results in a misshapen skull but does not prevent the brain from expanding to a normal volume. However, when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, which leads to increased pressure within the skull and impaired development of the brain. Craniosynostosis can be gene-linked or caused by metabolic diseases (such as rickets )or an overactive thyroid. Some cases are associated with other disorders such as microcephaly (abnormally small head) and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or impaired cognitive development, which are caused by constriction of the growing brain. Seizures and blindness may also occur.

MalaCards based summary : Craniosynostosis, also known as premature closure of cranial sutures, is related to craniosynostosis 1 and apert syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and Activation of cAMP-Dependent PKA. The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include Bone and Bone, and related phenotypes are growth/size/body region and craniofacial

Disease Ontology : 12 A synostosis that results_in premature fusion located in skull.

NIH Rare Diseases : 50 craniosynostosis is a birth defect of the brain characterized by the premature closure of one or more of the joints between the bones of the skull (called the cranial sutures) before brain growth is complete. the first sign is an abnormally shaped skull; other features can include signs of increased intracranial pressure, developmental delays, intellectual disability, seizures, and blindness, caused by constriction of the growing brain. closure of a single suture is most common and does not prevent the brain from expanding to a normal volume. when many sutures close prematurely, the skull cannot expand to accommodate the growing brain, leading to increased pressure and impaired development of the brain. craniosynostosis can be caused by genetic mutations, certain metabolic diseases (such as rickets or an overactive thyroid) or can be associated with other disorders such as microcephaly and hydrocephalus. treatment generally consists of surgery to improve the symmetry and appearance of the head and to relieve pressure on the brain and the cranial nerves. last updated: 3/31/2011

Wikipedia : 72 Craniosynostosis (from cranio, cranium; + syn, together; + ostosis relating to bone) is a condition in... more...

Related Diseases for Craniosynostosis

Diseases in the Craniosynostosis family:

Craniosynostosis 6 Craniosynostosis 2
Craniosynostosis 1 Craniosynostosis 5
Craniosynostosis 3 Craniosynostosis 7
Craniosynostosis 4 Craniosynostosis Autosomal Dominant
Craniosynostosis, Nonsyndromic Erf-Related Craniosynostosis
Fgfr1-Related Craniosynostosis Fgfr2-Related Craniosynostosis
Msx2-Related Craniosynostosis Tcf12-Related Craniosynostosis
Twist1-Related Craniosynostosis Zic1-Related Craniosynostosis

Diseases related to Craniosynostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 262)
id Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 33.4 FGFR1 FGFR2 FGFR3 MSX2 RECQL4 TWIST1
2 apert syndrome 32.8 FGFR2 FGFR3
3 crouzon syndrome with acanthosis nigricans 32.7 FGF8 FGFR2 FGFR3
4 jackson-weiss syndrome 32.6 FGF10 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
5 beare-stevenson cutis gyrata syndrome 32.3 ERF FGF2 FGFR1 FGFR2 FGFR3 MSX2
6 trigonocephaly 1 32.0 FGFR1 FGFR2 FGFR3
7 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 31.2 FGF10 FGF2 FGFR1 FGFR2 FGFR3 TWIST1
8 hydrocephalus 30.5 FGF8 FGFR1 ZIC1
9 craniosynostosis 4 12.0
10 craniosynostosis 2 12.0
11 craniosynostosis and dental anomalies 12.0
12 craniosynostosis 5 12.0
13 craniosynostosis 7 12.0
14 craniosynostosis 6 12.0
15 craniosynostosis 3 11.9
16 holoprosencephaly, semilobar, with craniosynostosis 11.9
17 baller-gerold syndrome 11.9
18 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 11.9
19 shprintzen-goldberg syndrome 11.8
20 muenke syndrome 11.8
21 fgfr2-related craniosynostosis 11.8
22 herrmann opitz craniosynostosis 11.8
23 fgfr-related craniosynostosis syndromes 11.8
24 craniosynostosis, adelaide type 11.8
25 tcf12-related craniosynostosis 11.8
26 craniosynostosis philadelphia type 11.7
27 craniosynostosis-cataract syndrome 11.7
28 msx2-related craniosynostosis 11.7
29 twist1-related craniosynostosis 11.7
30 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 11.7
31 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.6
32 zic1-related craniosynostosis 11.6
33 craniosynostosis, calcification of basal ganglia, and facial dysmorphism 11.6
34 hunter-mcalpine craniosynostosis syndrome 11.6
35 craniosynostosis with fibular aplasia 11.6
36 craniosynostosis, nonsyndromic 11.6
37 erf-related craniosynostosis 11.6
38 fgfr1-related craniosynostosis 11.6
39 craniosynostosis alopecia brain defect 11.6
40 craniosynostosis arthrogryposis cleft palate 11.6
41 craniosynostosis autosomal dominant 11.6
42 short ribs craniosynostosis polysyndactyly 11.6
43 craniosynostosis cleft lip palate arthrogryposis 11.6
44 craniosynostosis contractures cleft 11.6
45 hydrocephalus craniosynostosis bifid nose 11.6
46 symphalangism brachydactyly craniosynostosis 11.6
47 craniosynostosis exostoses nevus epibulbar dermoid 11.6
48 osteosclerosis-developmental delay-craniosynostosis syndrome 11.6
49 craniosynostosis fontaine type 11.6
50 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 11.6

Graphical network of the top 20 diseases related to Craniosynostosis:



Diseases related to Craniosynostosis

Symptoms & Phenotypes for Craniosynostosis

MGI Mouse Phenotypes related to Craniosynostosis:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 RECQL4 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1
2 craniofacial MP:0005382 10.41 FGFR1 FGFR2 FGFR3 MSX2 NELL1 NOG
3 behavior/neurological MP:0005386 10.4 FGFR3 MSX2 NELL1 TCF12 TGFBR2 TWIST1
4 cellular MP:0005384 10.39 EFNB1 ERF FGF10 FGF2 FGF8 FGFR1
5 digestive/alimentary MP:0005381 10.37 ALX4 EFNB1 FGF10 FGF8 FGFR1 FGFR2
6 embryo MP:0005380 10.36 FGFR2 MSX2 NOG RECQL4 TGFBR1 TGFBR2
7 mortality/aging MP:0010768 10.36 FGFR1 FGFR2 FGFR3 MSX2 NELL1 NOG
8 cardiovascular system MP:0005385 10.32 ERF FGF10 FGF2 FGF8 FGFR1 FGFR2
9 hematopoietic system MP:0005397 10.31 RECQL4 TCF12 TGFBR1 TGFBR2 EFNB1 ERF
10 endocrine/exocrine gland MP:0005379 10.28 EFNB1 FGF10 FGF8 FGFR1 FGFR2 MSX2
11 immune system MP:0005387 10.22 TCF12 TGFBR1 TGFBR2 EFNB1 FGF10 FGF8
12 nervous system MP:0003631 10.22 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
13 limbs/digits/tail MP:0005371 10.17 FGFR3 MSX2 NOG RECQL4 TWIST1 ALX4
14 hearing/vestibular/ear MP:0005377 10.16 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
15 integument MP:0010771 10.16 ALX4 EFNB1 FGF10 FGFR1 FGFR2 FGFR3
16 muscle MP:0005369 10.15 ZIC1 ALX4 FGF10 FGF2 FGF8 FGFR1
17 normal MP:0002873 10 ALX4 ERF FGF10 FGF8 FGFR1 FGFR2
18 skeleton MP:0005390 9.89 ALX4 EFNB1 ERF FGF10 FGF2 FGF8
19 respiratory system MP:0005388 9.85 FGF8 FGFR2 FGFR3 NELL1 NOG TGFBR1
20 vision/eye MP:0005391 9.4 ALX4 EFNB1 FGF10 FGF2 FGF8 FGFR1

Drugs & Therapeutics for Craniosynostosis

Drugs for Craniosynostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
4 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
5 Skullcap Nutraceutical Phase 4,Phase 1
6
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
7
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
8
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10
Etoposide Approved Phase 3 33419-42-0 36462
11
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
12
Lenograstim Approved Phase 3 135968-09-1
13
Mechlorethamine Approved Phase 3 51-75-2 4033
14
Melphalan Approved Phase 3 148-82-3 4053 460612
15
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
18
Doxil Approved June 1999 Phase 3 31703
19 Adjuvants, Immunologic Phase 3
20 Alkylating Agents Phase 3
21 Anti-Bacterial Agents Phase 3
22 Antibiotics, Antitubercular Phase 3
23 Antimitotic Agents Phase 3
24 Antineoplastic Agents, Phytogenic Phase 3
25 Antirheumatic Agents Phase 3
26 Dermatologic Agents Phase 3
27 Etoposide phosphate Phase 3
28 Immunosuppressive Agents Phase 3
29 topoisomerase I inhibitors Phase 3
30 Topoisomerase Inhibitors Phase 3
31 phenylalanine Nutraceutical Phase 3
32
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
33
Iron Approved 7439-89-6 23925
34 Analgesics
35 Peripheral Nervous System Agents
36
Bilirubin 635-65-4 5280352
37 Calcium, Dietary
38 Epoetin alfa 113427-24-0
39 Ferrous fumarate
40 Hematinics
41 Micronutrients
42 Trace Elements
43 Calamus Nutraceutical

Interventional clinical trials:

(show all 30)

id Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Unknown status NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
5 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
6 Efficacy of Amicar for Children Having Craniofacial Surgery Recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
7 Amicar Pharmacokinetics of Children Having Craniofacial Surgery Completed NCT00912119 Phase 1 Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid;Epsilon-Aminocaproic Acid
8 The Effect of Gender on the Consumption of Pain Medication in Infants Undergoing Craniosynostosis Repair or Untethering of Cord in ITU Unknown status NCT01996163
9 Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care Completed NCT02287805
10 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
11 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
12 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
13 Child and Infant Learning Project Completed NCT00077831
14 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
15 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
16 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
17 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
18 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
19 Osteogenic Profiling of Tissue From Children With Craniosynostosis Recruiting NCT00773643
20 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
21 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
22 MRI for Non-invasive Evaluation of Brain Stress Recruiting NCT01898650
23 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
24 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
25 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Enrolling by invitation NCT02775669
26 Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child Not yet recruiting NCT03231085 Ferrous fumarate
27 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281
28 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
29 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
30 Hanger Helmet Study Withdrawn NCT02561728

Search NIH Clinical Center for Craniosynostosis

Cochrane evidence based reviews: craniosynostoses

Genetic Tests for Craniosynostosis

Genetic tests related to Craniosynostosis:

id Genetic test Affiliating Genes
1 Craniosynostosis Syndrome 29
2 Craniosynostosis 29

Anatomical Context for Craniosynostosis

MalaCards organs/tissues related to Craniosynostosis:

39
Bone, Brain, Thyroid, Skin, Testes, Heart, Prostate
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Craniosynostosis:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Rostral Sutures Fusing Suture Cells Affected by disease
2 Bone Rostral Sutures Presumptive Suture Cells Affected by disease
3 Bone Facial Sutures Presumptive Suture Cells Affected by disease
4 Bone Facial Sutures Suture Cells Affected by disease
5 Bone Rostral Sutures Suture Cells Affected by disease

Publications for Craniosynostosis

Articles related to Craniosynostosis:

(show top 50) (show all 849)
id Title Authors Year
1
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. ( 28317252 )
2017
2
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. ( 28696035 )
2017
3
A new method for three-dimensional evaluation of the cranial shape and the automatic identification of craniosynostosis using 3D stereophotogrammetry. ( 28392059 )
2017
4
Perinatal complications in patients with unisutural craniosynostosis: An international multicentre retrospective cohort study. ( 28935489 )
2017
5
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis. ( 28845899 )
2017
6
A proposal for a new classification of complications in craniosynostosis surgery. ( 28362186 )
2017
7
A Volumetric and Craniometric Analysis of Cranial Base Differences in Unicoronal Craniosynostosis. ( 28885438 )
2017
8
Changes in delta ADC reflect intracranial pressure changes in craniosynostosis. ( 28894592 )
2017
9
Frontal Hyperostosis in the Patients of Craniosynostosis After Cranial Distraction Osteogenesis. ( 28938316 )
2017
10
Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature. ( 28217872 )
2017
11
Deregulated PDGFRI+ signaling alters coronal suture morphogenesis and leads to craniosynostosis through endochondral ossification. ( 28947535 )
2017
12
Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis. ( 28320694 )
2017
13
Sagittal craniosynostosis: a utility outcomes study. ( 28524791 )
2017
14
Anthropometric Outcome Measures in Patients With Metopic Craniosynostosis. ( 28468154 )
2017
15
Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery. ( 28474983 )
2017
16
Craniosynostosis and Guanine Nucleotide-binding Protein Alpha Stimulating Mutation: Risk of Bleeding Diathesis and Circulatory Collapse in Patients Undergoing Cranial Vault Reconstruction. ( 28358762 )
2017
17
Craniosynostosis as the first manifestation of an Albright's osteodystrophy associated with pseudohypoparathyroidism type 1A. ( 28396140 )
2017
18
Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences. ( 28060197 )
2017
19
Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality. ( 28468151 )
2017
20
OCT-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skull. ( 28087347 )
2017
21
Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. ( 27774767 )
2017
22
Long-Term Outcomes of Pediatric Cranial Reconstruction Using Resorbable Plating Systems for the Treatment of Craniosynostosis. ( 27831975 )
2017
23
The metopic-sagittal craniosynostosis-report of 35 operative cases. ( 28470385 )
2017
24
Identification of stiffness-induced signalling mechanisms in cells from patent and fused sutures associated with craniosynostosis. ( 28904366 )
2017
25
Biological response of human suture mesenchymal cells to Titania nanotube-based implants for advanced craniosynostosis therapy. ( 27883932 )
2017
26
Surgical Treatment of Nonsyndromic Craniosynostosis. ( 28885444 )
2017
27
Clinical genetics of craniosynostosis. ( 28914635 )
2017
28
Complete Resolution of Papilledema in Syndromic Craniosynostosis with Posterior Cranial Vault Distraction. ( 28904587 )
2017
29
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. ( 28926972 )
2017
30
Squamosal Craniosynostosis: Defining the Phenotype and Indications for Surgical Management. ( 28953518 )
2017
31
BMP9 induces osteogenesis and adipogenesis in the immortalized human cranial suture progenitors from the patent sutures of craniosynostosis patients. ( 28470873 )
2017
32
Use of computer-assisted design and manufacturing to localize dural venous sinuses during reconstructive surgery for craniosynostosis. ( 28921242 )
2017
33
Less is more: does the addition of barrel staves improve results in endoscopic strip craniectomy for sagittal craniosynostosis? ( 28409698 )
2017
34
Risk Factors for Delayed Referral to a Craniofacial Specialist for Treatment of Craniosynostosis. ( 28456388 )
2017
35
A Craniometric Analysis of Cranial Base and Cranial Vault Differences in Patients With Metopic Craniosynostosis. ( 28922245 )
2017
36
The Unnecessity of Positron Emission Tomography Computed Tomography in the Etiologic Evaluation of Neurodevelopmental Delay in Craniosynostosis Patients. ( 28913298 )
2017
37
A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis. ( 28468147 )
2017
38
Review of Past Reports and Current Concepts of Surgical Management for Craniosynostosis. ( 28413181 )
2017
39
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
40
Early Complications and Associated Perioperative Factors in Nonsyndromic Craniosynostosis. ( 28358766 )
2017
41
Promoting ossification of calvarial defects in craniosynostosis surgery by demineralized bone plate and bone dust in different age groups. ( 27751830 )
2017
42
Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. ( 28262468 )
2017
43
Correction of Sagittal Craniosynostosis Using Distraction Osteogenesis Based on Strategic Categorization. ( 28027243 )
2017
44
Determining the fate of cranial sutures after surgical correction ofA non-syndromic craniosynostosis. ( 28939204 )
2017
45
How I do it. 3D endoscopic treatment of metopic craniosynostosis through a single incision. ( 28942576 )
2017
46
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. ( 28849010 )
2017
47
Frontal Sinus Volume and Frontal Bar Position Are Associated in Unicoronal Craniosynostosis. ( 28350679 )
2017
48
Editorial. Sagittal craniosynostosis: what matters to parents? ( 28524789 )
2017
49
Use of cutting guides during craniosynostosis sequelae surgery: A comparative study between computer-assisted planning and post-operative results. ( 28434829 )
2017
50
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. ( 28747427 )
2017

Variations for Craniosynostosis

ClinVar genetic disease variations for Craniosynostosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1032G> A (p.Ala344=) single nucleotide variant Pathogenic rs121918491 GRCh37 Chromosome 10, 123276885: 123276885
2 FGFR2 NM_000141.4(FGFR2): c.1694A> C (p.Glu565Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121918506 GRCh37 Chromosome 10, 123256215: 123256215
3 FGFR3 NM_000142.4(FGFR3): c.1172C> A (p.Ala391Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931615 GRCh37 Chromosome 4, 1806153: 1806153
4 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
5 ZNF462 NM_021224.5(ZNF462): c.3787C> T (p.Arg1263Ter) single nucleotide variant Pathogenic rs1060499549 GRCh37 Chromosome 9, 109689980: 109689980
6 ZNF462 NM_021224.5(ZNF462): c.4263delA (p.Glu1422Serfs) deletion Pathogenic rs1060499551 GRCh37 Chromosome 9, 109690456: 109690456
7 ZNF462 NM_021224.5(ZNF462): c.2979_2980delTGinsA (p.Val994Trpfs) indel Pathogenic rs1060499550 GRCh37 Chromosome 9, 109689172: 109689173

Copy number variations for Craniosynostosis from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97908 16 14700000 16700000 Duplication or delet ion Craniosynostosis
2 112785 17 41062469 41719833 Deletion Craniosynostosis
3 142095 2 219500000 222200000 Duplication IHH Craniosynostosis

Expression for Craniosynostosis

Search GEO for disease gene expression data for Craniosynostosis.

Pathways for Craniosynostosis

Pathways related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 47)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.55 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
3
Show member pathways
13.54 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4
Show member pathways
13.5 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
5
Show member pathways
13.41 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
6
Show member pathways
13.36 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7
Show member pathways
13.31 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
8
Show member pathways
13.2 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
9
Show member pathways
13.07 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
10
Show member pathways
13.05 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.85 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.74 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.73 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.71 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
15 12.67 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16 12.64 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.59 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.55 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
19 12.49 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.47 FGF2 FGFR2 NOG TCF12 TGFBR1 TGFBR2
21
Show member pathways
12.46 FGFR1 FGFR2 FGFR3 TGFBR1 TGFBR2
22
Show member pathways
12.45 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
23 12.41 FGFR2 FGFR3 TGFBR1 TGFBR2
24
Show member pathways
12.37 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.37 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
26 12.35 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
27
Show member pathways
12.22 FGF2 FGFR1 FGFR2 FGFR3
28
Show member pathways
12.22 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
29 12.12 EFNB1 FGF2 FGFR1 FGFR2 FGFR3
30 12.09 FGF2 FGFR1 FGFR2 FGFR3
31
Show member pathways
12 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
32 11.86 FGF10 FGF2 FGF8 MSX2 NOG
33
Show member pathways
11.84 FGF2 FGF8 FGFR1
34 11.79 NOG TGFBR1 TGFBR2
35 11.74 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
36 11.72 FGFR1 TGFBR1 TGFBR2
37 11.67 FGFR1 FGFR2 FGFR3
38 11.67 FGF10 FGF2 FGF8 FGFR1 FGFR3
39 11.66 FGF2 FGFR1 FGFR3
40
Show member pathways
11.61 FGF2 FGF8 FGFR3
41 11.61 NOG TGFBR1 TGFBR2
42 11.53 FGF2 FGFR1 TGFBR1 TGFBR2
43 11.51 FGF10 FGF2 FGF8 NOG
44 11.48 FGFR1 FGFR2 FGFR3
45 11.37 EFNB1 FGF2 FGFR1 FGFR2 FGFR3 TGFBR1
46 11.23 FGF2 FGF8 FGFR1 FGFR2 FGFR3 MSX2
47 11.12 FGF2 FGFR1 TGFBR1 TGFBR2

GO Terms for Craniosynostosis

Cellular components related to Craniosynostosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 ALX4 EFNB1 ERF FGF10 FGF2 FGFR1
2 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

Biological processes related to Craniosynostosis according to GeneCards Suite gene sharing:

(show top 50) (show all 99)
id Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.99 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
2 positive regulation of MAPK cascade GO:0043410 9.97 FGF10 FGFR1 FGFR2 FGFR3
3 palate development GO:0060021 9.97 ALX4 TGFBR1 TGFBR2 TWIST1
4 lung development GO:0030324 9.97 FGF10 FGF8 FGFR1 FGFR2 TGFBR2
5 positive regulation of epithelial cell proliferation GO:0050679 9.96 FGF10 FGFR2 NOG TWIST1
6 embryonic digit morphogenesis GO:0042733 9.96 ALX4 MSX2 NOG TWIST1
7 muscle organ development GO:0007517 9.95 ALX4 TCF12 TWIST1
8 anterior/posterior pattern specification GO:0009952 9.95 ALX4 MSX2 TGFBR1
9 BMP signaling pathway GO:0030509 9.95 FGF8 MSX2 NOG
10 post-embryonic development GO:0009791 9.95 ALX4 FGFR2 TGFBR1
11 cartilage development GO:0051216 9.94 MSX2 NOG TGFBR2
12 outflow tract morphogenesis GO:0003151 9.94 FGF8 MSX2 NOG TGFBR2
13 negative regulation of cell differentiation GO:0045596 9.93 FGF10 NOG TWIST1
14 somatic stem cell population maintenance GO:0035019 9.93 FGF10 FGF2 NOG
15 phosphatidylinositol-mediated signaling GO:0048015 9.93 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16 embryonic limb morphogenesis GO:0030326 9.92 FGFR1 MSX2 TWIST1
17 bone development GO:0060348 9.92 FGF8 FGFR2 TWIST1
18 pattern specification process GO:0007389 9.92 ALX4 NOG ZIC1
19 skeletal system morphogenesis GO:0048705 9.92 ALX4 FGFR1 FGFR2 TGFBR1
20 positive regulation of cell division GO:0051781 9.91 FGF2 FGF8 FGFR2
21 positive regulation of epithelial to mesenchymal transition GO:0010718 9.91 TGFBR1 TGFBR2 TWIST1
22 ureteric bud development GO:0001657 9.91 FGFR1 FGFR2 NOG
23 positive chemotaxis GO:0050918 9.9 FGF10 FGF2 FGF8
24 embryonic cranial skeleton morphogenesis GO:0048701 9.9 FGFR2 TGFBR1 TGFBR2 TWIST1
25 epithelial to mesenchymal transition GO:0001837 9.89 FGFR2 NOG TGFBR1
26 positive regulation of cardiac muscle cell proliferation GO:0060045 9.89 FGF2 FGFR1 FGFR2
27 ventricular septum morphogenesis GO:0060412 9.89 NOG TGFBR1 TGFBR2
28 digestive tract development GO:0048565 9.89 ALX4 FGF10 FGFR2 TGFBR2
29 embryonic forelimb morphogenesis GO:0035115 9.88 ALX4 MSX2 TWIST1
30 bone morphogenesis GO:0060349 9.88 FGFR2 FGFR3 MSX2
31 positive regulation of mesenchymal cell proliferation GO:0002053 9.88 FGFR1 FGFR2 TGFBR2
32 odontogenesis GO:0042476 9.88 FGF8 FGFR2 MSX2 TWIST1
33 inner ear morphogenesis GO:0042472 9.88 FGF10 FGF8 FGFR1 FGFR2 ZIC1
34 phosphatidylinositol phosphorylation GO:0046854 9.88 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
35 embryonic pattern specification GO:0009880 9.87 EFNB1 FGF10 FGFR2
36 embryonic hindlimb morphogenesis GO:0035116 9.86 ALX4 FGF8 MSX2 TWIST1
37 limb morphogenesis GO:0035108 9.85 ALX4 FGF10 FGF8
38 regulation of smoothened signaling pathway GO:0008589 9.85 FGF10 FGFR2 ZIC1
39 outflow tract septum morphogenesis GO:0003148 9.84 FGF8 FGFR2 MSX2 TGFBR2
40 organ induction GO:0001759 9.82 FGF10 FGF8 FGFR1
41 membranous septum morphogenesis GO:0003149 9.8 FGFR2 NOG TGFBR2
42 lung morphogenesis GO:0060425 9.8 FGF10 FGF8 NOG TGFBR2
43 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
44 positive regulation of phospholipase activity GO:0010518 9.79 FGFR1 FGFR2 FGFR3
45 endochondral bone growth GO:0003416 9.79 FGFR2 FGFR3 MSX2
46 endocardial cushion morphogenesis GO:0003203 9.78 NOG TWIST1
47 otic vesicle formation GO:0030916 9.78 FGF10 FGF8 FGFR2
48 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.77 FGF8 MSX2
49 pathway-restricted SMAD protein phosphorylation GO:0060389 9.77 TGFBR1 TGFBR2
50 mesonephros development GO:0001823 9.77 FGF10 FGF8

Molecular functions related to Craniosynostosis according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.95 FGFR1 FGFR2 FGFR3 TGFBR1 TGFBR2
2 heparin binding GO:0008201 9.78 FGF10 FGF2 FGFR1 FGFR2
3 protein tyrosine kinase activity GO:0004713 9.73 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.7 FGFR1 FGFR2 FGFR3
5 SMAD binding GO:0046332 9.67 TCF12 TGFBR1 TGFBR2
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.63 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
7 chemoattractant activity GO:0042056 9.61 FGF10 FGF2 FGF8
8 fibroblast growth factor receptor binding GO:0005104 9.58 FGF10 FGF2 FGF8
9 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.56 TGFBR1 TGFBR2
10 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.54 TGFBR1 TGFBR2
11 fibroblast growth factor binding GO:0017134 9.54 FGFR1 FGFR2 FGFR3
12 transforming growth factor beta-activated receptor activity GO:0005024 9.51 TGFBR1 TGFBR2
13 fibroblast growth factor-activated receptor activity GO:0005007 9.5 FGFR1 FGFR2 FGFR3
14 receptor-receptor interaction GO:0090722 9.46 FGF2 FGFR1
15 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.43 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3
16 1-phosphatidylinositol-3-kinase activity GO:0016303 9.1 FGF10 FGF2 FGF8 FGFR1 FGFR2 FGFR3

Sources for Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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44 MGI
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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