MCID: CRN278
MIFTS: 41

Craniosynostosis 1

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

Aliases & Classifications for Craniosynostosis 1

MalaCards integrated aliases for Craniosynostosis 1:

Name: Craniosynostosis 1 53 71 28
Craniostenosis 53 72 71
Crs1 53 71
Crs 53 71
Craniosynostosis, Type 1 13
Craniosynostosis 69
Cry 72

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
craniosynostosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 123100
MeSH 41 D003398

Summaries for Craniosynostosis 1

CDC : 3 CRE, which stands for carbapenem-resistant Enterobacteriaceae, are a family of germs that are difficult to treat because they have high levels of resistance to antibiotics. Klebsiella species and Escherichia coli (E. coli) are examples of Enterobacteriaceae, a normal part of the human gut bacteria, that can become carbapenem-resistant. Types of CRE are sometimes known as KPC (Klebsiella pneumoniae carbapenemase) and NDM (New Delhi Metallo-beta-lactamase). KPC and NDM are enzymes that break down carbapenems and make them ineffective. Both of these enzymes, as well as the enzyme VIM (Verona Integron-Mediated Metallo-β-lactamase) have also been reported in Pseudomonas.

MalaCards based summary : Craniosynostosis 1, also known as craniostenosis, is related to craniosynostosis and craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis, and has symptoms including dolichocephaly, turricephaly and craniosynostosis. An important gene associated with Craniosynostosis 1 is TWIST1 (Twist Family BHLH Transcription Factor 1). The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. (123100)

UniProtKB/Swiss-Prot : 71 Craniosynostosis 1: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

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

Related Diseases for Craniosynostosis 1

Diseases in the Craniosynostosis family:

Craniosynostosis 1 Craniosynostosis 4
Craniosynostosis 2 Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis 3 Craniosynostosis 5
Craniosynostosis 6 Craniosynostosis 7
Craniosynostosis Autosomal Dominant

Diseases related to Craniosynostosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 30.4 ERF TWIST1
2 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.9
3 gigantism advanced bone age hoarse cry 11.9
4 craniostenosis cataract 11.9
5 congenital rubella 11.9
6 scarf syndrome 11.9
7 cayler cardiofacial syndrome 11.8
8 cri-du-chat syndrome 11.8
9 pseudobulbar affect 11.7
10 rubella 11.4
11 ichthyosis vulgaris 11.2
12 laryngomalacia 11.0
13 otitis media 11.0
14 cardiocranial syndrome 11.0
15 osteoglophonic dysplasia 10.9
16 hypophosphatasia, infantile 10.9
17 cold-induced sweating syndrome 1 10.9
18 shprintzen-goldberg craniosynostosis syndrome 10.9
19 pfeiffer tietze welte syndrome 10.9
20 cerebral creatine deficiency syndrome 1 10.9
21 sinusitis 10.9
22 craniosynostosis 4 10.9
23 craniosynostosis 2 10.9
24 craniosynostosis 3 10.9
25 craniosynostosis 5 10.9
26 craniosynostosis 6 10.9
27 craniosynostosis 7 10.9
28 lipoid proteinosis of urbach and wiethe 10.8
29 weaver syndrome 10.8
30 sudden infant death with dysgenesis of the testes syndrome 10.8
31 cold-induced sweating syndrome 2 10.8
32 postpartum depression 10.8
33 opitz gbbb syndrome, type ii 10.7
34 laryngeal web, familial 10.7
35 omphalocele, autosomal 10.7
36 tetralogy of fallot 10.7
37 farber lipogranulomatosis 10.7
38 hypothalamic hamartomas 10.7
39 pseudo-torch syndrome 1 10.7
40 leigh syndrome 10.7
41 ocular motor apraxia 10.7
42 megalencephaly-capillary malformation-polymicrogyria syndrome 10.7
43 spinal muscular atrophy, distal, autosomal recessive, 1 10.7
44 breath-holding spells 10.7
45 muscular dystrophy, congenital merosin-deficient, 1a 10.7
46 urofacial syndrome 2 10.7
47 cold-induced sweating syndrome 3 10.7
48 sydenham chorea 10.7
49 bipolar disorder 10.7
50 aicardi-goutieres syndrome 10.7

Graphical network of the top 20 diseases related to Craniosynostosis 1:



Diseases related to Craniosynostosis 1

Symptoms & Phenotypes for Craniosynostosis 1

Symptoms via clinical synopsis from OMIM:

53
Skull:
scaphocephaly
dolichocephaly
oxycephaly

Neuro:
normal intelligence

Radiology:
beaten copper appearance of skull


Clinical features from OMIM:

123100

Human phenotypes related to Craniosynostosis 1:

31
# Description HPO Frequency HPO Source Accession
1 dolichocephaly 31 HP:0000268
2 turricephaly 31 HP:0000262
3 craniosynostosis 31 HP:0001363
4 oxycephaly 31 HP:0000263
5 scaphocephaly 31 HP:0030799

GenomeRNAi Phenotypes related to Craniosynostosis 1 according to GeneCards Suite gene sharing:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.47 ERF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.47 ERF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.47 ERF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.47 TWIST1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.47 TWIST1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.47 ERF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.47 TWIST1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.47 TWIST1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.47 ERF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.47 ERF TWIST1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.47 ERF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.47 TWIST1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.47 ERF

Drugs & Therapeutics for Craniosynostosis 1

Drugs for Craniosynostosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# 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 38904 498142
7
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
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 5282379 5538
12
Lenograstim Approved, Investigational Phase 3 135968-09-1
13
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
14
Melphalan Approved Phase 3 148-82-3 460612 4053
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 Epoetin alfa 113427-24-0
38 Ferrous fumarate
39 Hematinics
40 Micronutrients
41 Trace Elements
42 Calcium, Dietary
43 Calamus Nutraceutical

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Active, not 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 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
12 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
13 Child and Infant Learning Project Completed NCT00077831
14 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
15 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
16 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
17 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936
18 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
19 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
20 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 Recruiting NCT03231085 Ferrous fumarate
21 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
22 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
23 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
24 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
25 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
26 Osteogenic Profiling of Tissue From Children With Craniosynostosis Active, not recruiting NCT00773643
27 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Enrolling by invitation NCT02775669
28 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281
29 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087
30 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
31 Hanger Helmet Study Withdrawn NCT02561728

Search NIH Clinical Center for Craniosynostosis 1

Genetic Tests for Craniosynostosis 1

Genetic tests related to Craniosynostosis 1:

# Genetic test Affiliating Genes
1 Craniosynostosis 1 28 TWIST1

Anatomical Context for Craniosynostosis 1

MalaCards organs/tissues related to Craniosynostosis 1:

38
Brain, Bone

Publications for Craniosynostosis 1

Articles related to Craniosynostosis 1:

# Title Authors Year
1
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). ( 2596519 )
1989
2
Some observations on cleido-cranial dysostosis and craniostenosis. ( 4534984 )
1974
3
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. ( 5116596 )
1971
4
Surgical treatment of unilateral coronal craniostenosis (plagiocephaly). Report of three cases. ( 14028392 )
1963

Variations for Craniosynostosis 1

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 1:

71
# Symbol AA change Variation ID SNP ID
1 TWIST1 p.Ala186Thr VAR_034985 rs121909190
2 TWIST1 p.Ser188Leu VAR_034986 rs121909191

ClinVar genetic disease variations for Craniosynostosis 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 NM_000474.3(TWIST1): c.556G> A (p.Ala186Thr) single nucleotide variant Pathogenic rs121909190 GRCh37 Chromosome 7, 19156389: 19156389
2 TWIST1 NM_000474.3(TWIST1): c.563C> T (p.Ser188Leu) single nucleotide variant Pathogenic rs121909191 GRCh37 Chromosome 7, 19156382: 19156382
3 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
4 ERF NM_006494.3(ERF): c.733delC (p.Leu245Serfs) deletion Pathogenic GRCh37 Chromosome 19, 42753531: 42753531
5 ERF NM_006494.3(ERF): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 42753645: 42753645

Expression for Craniosynostosis 1

Search GEO for disease gene expression data for Craniosynostosis 1.

Pathways for Craniosynostosis 1

GO Terms for Craniosynostosis 1

Biological processes related to Craniosynostosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 8.96 ERF TWIST1
2 negative regulation of transcription by RNA polymerase II GO:0000122 8.62 ERF TWIST1

Molecular functions related to Craniosynostosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 8.96 ERF TWIST1
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 8.62 ERF TWIST1

Sources for Craniosynostosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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