CRS1
MCID: CRN278
MIFTS: 45

Craniosynostosis 1 (CRS1)

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

Aliases & Classifications for Craniosynostosis 1

MalaCards integrated aliases for Craniosynostosis 1:

Name: Craniosynostosis 1 56 73 29 6
Craniostenosis 56 74 73
Craniosynostosis, Type 1 13 39
Crs1 56 73
Crs 56 73
Craniosynostosis 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
craniosynostosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 123100
OMIM Phenotypic Series 56 PS123100
MeSH 43 D003398
UMLS 71 C0010278

Summaries for Craniosynostosis 1

OMIM : 56 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)

MalaCards based summary : Craniosynostosis 1, also known as craniostenosis, is related to craniosynostosis and syndromic craniosynostosis. An important gene associated with Craniosynostosis 1 is TWIST1 (Twist Family BHLH Transcription Factor 1). The drugs Tranexamic Acid and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and heart, and related phenotypes are craniosynostosis and turricephaly

UniProtKB/Swiss-Prot : 73 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 : 74 Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant (very young)... 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 465)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 31.1 TWIST1 KAT6B ERF
2 syndromic craniosynostosis 29.3 TWIST1 ERF
3 crouzon syndrome 29.0 TWIST1 ERF
4 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 12.4
5 craniostenosis cataract 12.2
6 craniostenosis with strabismus 12.2
7 scarf syndrome 12.2
8 congenital rubella 12.2
9 rubella 11.7
10 constricting bands, congenital 11.3
11 pseudoainhum 11.3
12 osteoglophonic dysplasia 11.3
13 hypophosphatasia, infantile 11.3
14 car t cell therapy-associated cytokine release syndrome 11.2
15 pfeiffer tietze welte syndrome 11.2
16 cerebral creatine deficiency syndrome 1 11.2
17 craniosynostosis 4 11.2
18 craniosynostosis 2 11.2
19 craniosynostosis 3 11.2
20 craniosynostosis 5 11.2
21 craniosynostosis 6 11.2
22 craniosynostosis 7 11.2
23 shprintzen-goldberg craniosynostosis syndrome 11.2
24 hair whorl 10.5
25 creatinine clearance quantitative trait locus 10.5
26 hydrocephalus 10.4
27 synostosis 10.4
28 rapidly involuting congenital hemangioma 10.4
29 intracranial hypertension 10.4
30 rickets 10.3
31 periodontitis 10.3
32 leukemia 10.3
33 triiodothyronine receptor auxiliary protein 10.3
34 congestive heart failure 10.3
35 47,xyy 10.2
36 scleroderma, familial progressive 10.2
37 crest syndrome 10.2
38 limited scleroderma 10.2
39 apert syndrome 10.2
40 hereditary hypophosphatemic rickets 10.2
41 leukemia, acute myeloid 10.2
42 benign mesothelioma 10.2
43 allergic hypersensitivity disease 10.2
44 myeloid leukemia 10.2
45 48,xyyy 10.2
46 ocular motor apraxia 10.2
47 dentinogenesis imperfecta type 2 10.2
48 gastric cancer 10.2
49 heart disease 10.2
50 rectum cancer 10.2

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



Diseases related to Craniosynostosis 1

Symptoms & Phenotypes for Craniosynostosis 1

Human phenotypes related to Craniosynostosis 1:

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

Symptoms via clinical synopsis from OMIM:

56
Skull:
dolichocephaly
scaphocephaly
oxycephaly

Radiology:
beaten copper appearance of skull

Neuro:
normal intelligence

Clinical features from OMIM:

123100

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

26 (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-77 9.47 ERF
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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Hemostatics Phase 4
3 Antifibrinolytic Agents Phase 4
4 Coagulants Phase 4
5 Pharmaceutical Solutions Phase 3
6
Aminocaproic acid Approved, Investigational Phase 2 60-32-2 564
7
Tramadol Approved, Investigational 27203-92-5 33741
8
Acetaminophen Approved 103-90-2 1983
9
Levobupivacaine Approved, Investigational 27262-47-1 92253
10
Ferrous fumarate Approved 141-01-5
11
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
12
Diltiazem Approved, Investigational Early Phase 1 42399-41-7 39186
13
Calcium Approved, Nutraceutical 7440-70-2 271
14
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
15
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
16 Analgesics
17 Analgesics, Non-Narcotic
18 Antipyretics
19 Hematinics
20 Epoetin alfa 113427-24-0
21 Anesthetics
22 Nutrients
23 Trace Elements
24 Micronutrients
25 Calcium, Dietary
26 Vitamins
27 Vitamin D2
28 Ergocalciferols
29 Calciferol
30 Hormones
31 Antihypertensive Agents Early Phase 1
32 Vasodilator Agents Early Phase 1
33 calcium channel blockers Early Phase 1

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics/ Pharmacogenomics of a Reduced Dose of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
2 Tranexamic Acid for the Reduction of Allogeneic Blood Exposure in Infants and Children Having Craniofacial Surgery Terminated NCT00722436 Phase 4 Tranexamic acid;saline
3 Comparison of Allogenix Plus Demineralized Bone Matrix and Autogenous Bone Dust Versus Autogenous Bone Dust Alone in Ossification of Small Calvarial Defects, a Pilot Study. Withdrawn NCT01006148 Phase 4
4 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
5 Blood Loss and Transfusion Requirement in Infants Treated With Tranexamic Acid Undergoing Craniosynostosis Reconstruction: A Randomized Placebo-Controlled Double Blind Study of Low and High Dose Therapy Suspended NCT01094977 Phase 3 Tranexamic Acid;Tranexamic Acid;Saline Placebo
6 Efficacy of ε-Aminocaproic Acid (EACA) in Children Undergoing Craniofacial Reconstruction Surgery Active, not recruiting NCT02229968 Phase 2 Amicar (ε-aminocaproic acid);normal saline
7 Pharmacokinetics of Epsilon-Aminocaproic Acid in Children Undergoing Craniofacial Reconstruction 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 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
10 Neurobehavioral Correlates of Craniosynostosis Completed NCT00077831
11 Changes of Optic Nerve Sheath Diameter in Modified Prone Position in Craniosynostosis Children Completed NCT03131245
12 Genetic Analysis of Craniosynostosis, Philadelphia Type (OMIM 601222) Completed NCT00367796
13 Craniosynostosis: How to Improve the Diagnosis and Assist Patients and Their Families? Completed NCT02287805
14 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Tranexamic Acid;normal saline
15 The Scalp Block for Postoperative Pain Control in Craniosynostosis Surgery: a Case Control Study Completed NCT04133467
16 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650
17 Osteogenic Profiling of Tissue From Children With Craniosynostosis Completed NCT00773643
18 The Affect of Radiated Versus Non-Irradiated Blood on Extracellular Potassium Levels in Infants Undergoing Craniosynostosis Repair Completed NCT02483702
19 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
20 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
21 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 or ferrostrane
22 Craniosynostosis Network Recruiting NCT03025763
23 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
24 Non-Invasive and Non-Contact Intracranial Pressure Waveform Recording Using Dynamic Video Ophthalmoscopy Recruiting NCT04046523
25 Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02603042
26 Bedside Resources to Gauge Intravascular Volume Status in Hypovolemic Infants in the Operating Room Recruiting NCT03915587
27 A Monocentric, Prospective Clinical Study to Evaluation of Cerebral Oxygen Saturation by Near InfraRed Spectroscopy (NIRS) in Children With Craniosynostosis Not yet recruiting NCT04086056
28 Neurodevelopmental Outcomes in Craniosynostosis Repair Not yet recruiting NCT04072783
29 Clinical Feasibility Study of Preoperative Surgical Planning for Craniosynostosis Procedures Not yet recruiting NCT03812159
30 Effect of Burosumab and 1-25 (OH) Vitamin D on Human Osteoblasts From Patients Requiring Craniosynostosis Surgery for Idiopathic Reason or Due to Hypophosphatemic Rickets (HR) Not yet recruiting NCT04159675
31 Efficacy of Oral Diltiazem Versus Combination of Oral Diltiazem With Intravenous Tranexamic Acid on the Intraoperative Bleeding in Functional Endoscopic Sinus Surgery Not yet recruiting NCT03580590 Early Phase 1 oral Diltiazem;IV Tranexamic Acid;Placebo Oral Tablet
32 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
33 The Application of Bio-impedance System NICAS and Hand-held Echocardiographic System (VSCAN) as Tools for Clinical Decision-making in the Treatment of In-patients With Cardio-renal Syndrome Type I Withdrawn NCT02959281
34 Prospective Study to Evaluate Effectiveness of the Hanger Helmet vs the P Pod Helmet in Improving the Head and Face Symmetry 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 29 TWIST1

Anatomical Context for Craniosynostosis 1

MalaCards organs/tissues related to Craniosynostosis 1:

40
Brain, Bone, Heart, Lung, Kidney, Ovary, Colon

Publications for Craniosynostosis 1

Articles related to Craniosynostosis 1:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 56 6
17343269 2007
2
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 56
27606499 2016
3
Filling in the gaps in cranial suture biology. 56
23438589 2013
4
Genetic study of scaphocephaly. 56
8882788 1996
5
Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl. 56
2558067 1989
6
Chromosome 7 short arm deletion, 7p21----pter. 56
3781561 1986
7
De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome. 56
3487273 1986
8
Terminal 7p deletion and 1;7 translocation associated with craniosynostosis. 56
489013 1979
9
Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. 56
1002161 1976
10
Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). 56
982314 1976
11
Familial inheritance of coronal craniosynostosis. 56
1183742 1975
12
Craniosynostosis: a review of 519 surgical patients. 56
5643989 1968
13
[Craniosynostosis (study of 20 cases)]. 56
6049836 1967
14
Autosomal deletion mapping in man. 56
4959670 1967
15
CRANIOSYNOSTOSIS: A SURVEY OF 204 CASES. 56
14306216 1965
16
Craniostenosis. Review of the literature and report of thirty-four cases. 56
13894889 1962
17
The simulation of mendelism. 56
13725809 1960
18
[Familial craniostenosis]. 56
13705412 1960
19
Craniostenosis. 56
13851199 1959
20
Familial scaphocephaly in father and son. 56
13102753 1953
21
Hereditary and Familial Oxycephaly. 56
19988013 1931
22
External validation of a 'response score' after neoadjuvant chemotherapy in patients with high-grade serous ovarian carcinoma with complete clinical response. 61
31754067 2020
23
SIRT1 gene polymorphisms are associated with nondiabetic type 1 cardiorenal syndrome. 61
31355422 2019
24
Mitochondrial cysteinyl-tRNA synthetase is expressed via alternative transcriptional initiation regulated by energy metabolism in yeast cells. 61
31350340 2019
25
Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data. 61
31118141 2019
26
Interactive and potentially independent roles of renin-angiotensin-aldosterone system blockade and the development of cardiorenal syndrome type 1 on in-hospital mortality among elderly patients admitted with acute decompensated congestive heart failure. 61
30936736 2019
27
CDK contribution to DSB formation and recombination in fission yeast meiosis. 61
30640914 2019
28
Histopathologic response to neoadjuvant chemotherapy as a prognostic biomarker in tubo-ovarian high-grade serous carcinoma: updated Chemotherapy Response Score (CRS) results. 61
30683759 2019
29
Pathological Chemotherapy Response Score in Patients Affected by High Grade Serous Ovarian Carcinoma: The Prognostic Role of Omental and Ovarian Residual Disease. 61
31482065 2019
30
Mutational analysis of CCL20 reveals flexibility of N-terminal amino acid composition and length. 61
30114340 2018
31
Nomogram Model to Predict Cardiorenal Syndrome Type 1 in Patients with Acute Heart Failure. 61
30537702 2018
32
Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy. 61
28199302 2017
33
Albino Leaf 2 is involved in the splicing of chloroplast group I and II introns in rice. 61
27543605 2016
34
Incidence, Mortality and Positive Predictive Value of Type 1 Cardiorenal Syndrome in Acute Coronary Syndrome. 61
27907067 2016
35
Risk Factors and Prognosis of Cardiorenal Syndrome Type 1 in Elderly Chinese Patients: A Retrospective Observational Cohort Study. 61
27676190 2016
36
Cardiorenal Syndrome Type 1: Activation of Dual Apoptotic Pathways. 61
26648947 2015
37
Cardiorenal Syndrome Type 1: Renal Dysfunction in Acute Decompensated Heart Failure. 61
27158218 2015
38
Assessing continuous renal replacement therapy as a rescue strategy in cardiorenal syndrome 1. 61
25713716 2015
39
Pro-Apoptotic Effects of Plasma from Patients with Cardiorenal Syndrome on Human Tubular Cells. 61
26228789 2015
40
Denitrifying sulfide removal and nitrososulfide complex: Azoarcus sp. NSC3 and Pseudomonas sp. CRS1 mix. 61
24929301 2014
41
[Risk factors for Type 1 cardio-renal syndrome after ST-segment elevation myocardial infarction]. 61
24820274 2014
42
Pseudomonas yangmingensis sp. nov., an alkaliphilic denitrifying species isolated from a hot spring. 61
23849745 2014
43
Intracranial anomalies and cloacal exstrophy--is there a role for screening? 61
24210196 2013
44
mCSF1, a nucleus-encoded CRM protein required for the processing of many mitochondrial introns, is involved in the biogenesis of respiratory complexes I and IV in Arabidopsis. 61
23646912 2013
45
Molecular characterization and expression analysis of S1 self-incompatibility locus-linked pollen 3.15 gene in Citrus reticulata. 61
23302024 2013
46
Pregnancy after hysteroscopic endometrial ablation without endometrial preparation: a report of five cases and a literature review. 61
21056317 2010
47
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. 61
20425826 2010
48
QTL mapping of clubroot resistance in radish (Raphanus sativus L.). 61
20012934 2010
49
A complex gene regulatory mechanism that operates at the nexus of multiple RNA processing decisions. 61
19198588 2009
50
Comparative analysis of emm type pattern of Group A Streptococcus throat and skin isolates from India and their association with closely related SIC, a streptococcal virulence factor. 61
18796133 2008

Variations for Craniosynostosis 1

ClinVar genetic disease variations for Craniosynostosis 1:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWIST1 NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu)SNV Pathogenic 7986 rs121909191 7:19156382-19156382 7:19116759-19116759
2 TWIST1 NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)SNV Pathogenic 7977 rs121909188 7:19156569-19156569 7:19116946-19116946
3 TWIST1 NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr)SNV Pathogenic 7985 rs121909190 7:19156389-19156389 7:19116766-19116766
4 ERF NM_006494.4(ERF):c.547C>T (p.Arg183Ter)SNV Pathogenic 55923 rs587777006 19:42753717-42753717 19:42249565-42249565
5 TWIST1 NC_000007.13:g.(?_19156316)_(19156964_?)deldeletion Pathogenic 458685 7:19116693-19117341
6 ERF NM_006494.4(ERF):c.733del (p.Leu245fs)deletion Pathogenic 476628 rs1555750741 19:42753531-42753531 19:42249379-42249379
7 ERF NM_006494.4(ERF):c.619C>T (p.Arg207Ter)SNV Pathogenic 476627 rs1555750795 19:42753645-42753645 19:42249493-42249493
8 TWIST1 NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)deletion Pathogenic 543077 rs1554442082 7:19156803-19156813 7:19117180-19117190
9 TWIST1 NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)duplication Pathogenic 543075 rs1554441991 7:19156528-19156529 7:19116905-19116906
10 ERF NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)deletion Pathogenic 543070 rs1555750816 19:42753697-42753698 19:42249545-42249546
11 TWIST1 NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter)duplication Pathogenic 567420 rs1563159980 7:19156526-19156527 7:19116903-19116904
12 TWIST1 NM_000474.4(TWIST1):c.90_111del (p.Lys33fs)deletion Pathogenic 573378 rs1563160337 7:19156834-19156855 7:19117211-19117232
13 ERF NM_006494.4(ERF):c.-44_22+11deldeletion Pathogenic 583126 rs1568475667 19:42759119-42759195 19:42254967-42255043
14 ERF NM_006494.4(ERF):c.223C>T (p.Gln75Ter)SNV Pathogenic 582072 rs1568472771 19:42754517-42754517 19:42250365-42250365
15 TWIST1 NM_000474.4(TWIST1):c.277dup (p.Ser93fs)duplication Pathogenic 648741 7:19156667-19156668 7:19117044-19117045
16 TWIST1 NM_000474.4(TWIST1):c.197del (p.Pro66fs)deletion Pathogenic 645450 7:19156748-19156748 7:19117125-19117125
17 TWIST1 NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs)duplication Pathogenic 642695 7:19156869-19156870 7:19117246-19117247
18 TWIST1 NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)SNV Pathogenic 802300 7:19156636-19156636 7:19117013-19117013
19 TWIST1 NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)SNV Pathogenic/Likely pathogenic 575739 rs1563160116 7:19156644-19156644 7:19117021-19117021
20 TWIST1 NM_000474.4(TWIST1):c.408dup (p.Thr137fs)duplication Likely pathogenic 543076 rs1554441993 7:19156536-19156537 7:19116913-19116914
21 TWIST1 NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly)SNV Likely pathogenic 543078 rs1554442019 7:19156599-19156599 7:19116976-19116976
22 TWIST1 NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro)SNV Likely pathogenic 476634 rs1554441995 7:19156550-19156550 7:19116927-19116927
23 ERF NM_006494.4(ERF):c.891_892del (p.Gly299fs)deletion Likely pathogenic 55924 rs587777007 19:42753372-42753373 19:42249220-42249221
24 TWIST1 NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)SNV Conflicting interpretations of pathogenicity 235255 rs878852992 7:19156851-19156851 7:19117228-19117228
25 TWIST1 NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)SNV Conflicting interpretations of pathogenicity 426307 rs1085307555 7:19156616-19156616 7:19116993-19116993
26 TWIST1 NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del)deletion Uncertain significance 476633 rs1554441992 7:19156530-19156550 7:19116907-19116927
27 TWIST1 NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu)SNV Uncertain significance 476635 rs1554441982 7:19156490-19156490 7:19116867-19116867
28 KAT6B NM_012330.4(KAT6B):c.3154_3169del (p.Arg1052fs)deletion Uncertain significance 374242 rs1057519003 10:76781771-76781786 10:75022013-75022028
29 TWIST1 NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr)SNV Uncertain significance 543073 rs1554442021 7:19156604-19156604 7:19116981-19116981
30 TWIST1 NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser)SNV Uncertain significance 543074 rs1554441944 7:19156385-19156385 7:19116762-19116762
31 TWIST1 NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro)SNV Uncertain significance 647985 7:19156469-19156469 7:19116846-19116846
32 TWIST1 NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr)SNV Uncertain significance 655051 7:19156539-19156539 7:19116916-19116916
33 TWIST1 NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys)SNV Uncertain significance 652940 7:19156587-19156587 7:19116964-19116964
34 TWIST1 NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp)SNV Uncertain significance 643790 7:19156617-19156617 7:19116994-19116994
35 TWIST1 NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala)SNV Uncertain significance 574126 rs559821440 7:19156875-19156875 7:19117252-19117252
36 TWIST1 NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn)SNV Uncertain significance 583158 rs1051003265 7:19156742-19156742 7:19117119-19117119
37 ERF NM_006494.4(ERF):c.1243_1245del (p.Ala415del)deletion Uncertain significance 543069 rs759202471 19:42753019-42753021 19:42248867-42248869
38 TWIST1 NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe)SNV Uncertain significance 568616 rs867957820 7:19156458-19156458 7:19116835-19116835
39 ERF NM_006494.4(ERF):c.208C>T (p.Arg70Cys)SNV Uncertain significance 543068 rs756869919 19:42754532-42754532 19:42250380-42250380
40 ERF NM_006494.4(ERF):c.1263G>C (p.Pro421=)SNV Likely benign 476626 rs750423382 19:42753001-42753001 19:42248849-42248849
41 TWIST1 NM_000474.4(TWIST1):c.33G>T (p.Ser11=)SNV Likely benign 543079 rs1554442101 7:19156912-19156912 7:19117289-19117289
42 ERF NM_006494.4(ERF):c.1244C>T (p.Ala415Val)SNV Benign 476625 rs139842507 19:42753020-42753020 19:42248868-42248868

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

73
# Symbol AA change Variation ID SNP ID
1 TWIST1 p.Ala186Thr VAR_034985 rs121909190
2 TWIST1 p.Ser188Leu VAR_034986 rs121909191

Expression for Craniosynostosis 1

Search GEO for disease gene expression data for Craniosynostosis 1.

Pathways for Craniosynostosis 1

GO Terms for Craniosynostosis 1

Cellular components related to Craniosynostosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.8 TWIST1 KAT6B ERF

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.13 TWIST1 KAT6B ERF
2 transcription factor binding GO:0008134 8.62 TWIST1 KAT6B

Sources for Craniosynostosis 1

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