CRS1
MCID: CRN278
MIFTS: 39

Craniosynostosis 1 (CRS1)

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

Aliases & Classifications for Craniosynostosis 1

MalaCards integrated aliases for Craniosynostosis 1:

Name: Craniosynostosis 1 57 75 29 6
Craniostenosis 57 76 75
Craniosynostosis, Type 1 13 40
Crs1 57 75
Crs 57 75
Craniosynostosis 73
Cry 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
craniosynostosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 123100
MeSH 44 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. An important gene associated with Craniosynostosis 1 is TWIST1 (Twist Family BHLH Transcription Factor 1). The drugs Tranexamic Acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include brain and bone, and related phenotypes are turricephaly and craniosynostosis

OMIM : 57 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 : 75 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 : 76 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 29.2 ERF KAT6B 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 cri-du-chat syndrome 11.9
6 scarf syndrome 11.9
7 cayler cardiofacial syndrome 11.8
8 congenital rubella 11.8
9 pseudobulbar affect 11.8
10 rubella 11.3
11 ichthyosis vulgaris 11.1
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 crisponi/cold-induced sweating syndrome 1 10.9
18 sudden infant death with dysgenesis of the testes syndrome 10.9
19 pfeiffer tietze welte syndrome 10.9
20 craniosynostosis 4 10.9
21 craniosynostosis 2 10.9
22 craniosynostosis 3 10.9
23 craniosynostosis 5 10.9
24 craniosynostosis 6 10.9
25 craniosynostosis 7 10.9
26 shprintzen-goldberg craniosynostosis syndrome 10.9
27 lipoid proteinosis of urbach and wiethe 10.8
28 weaver syndrome 10.8
29 crisponi/cold-induced sweating syndrome 2 10.8
30 postpartum depression 10.8
31 cowden syndrome 1 10.8
32 proteus syndrome 10.8
33 cerebral creatine deficiency syndrome 1 10.8
34 opitz gbbb syndrome, type ii 10.7
35 laryngeal web, familial 10.7
36 omphalocele, autosomal 10.7
37 tetralogy of fallot 10.7
38 farber lipogranulomatosis 10.7
39 hypothalamic hamartomas 10.7
40 pseudo-torch syndrome 1 10.7
41 leigh syndrome 10.7
42 ocular motor apraxia 10.7
43 megalencephaly-capillary malformation-polymicrogyria syndrome 10.7
44 spinal muscular atrophy, distal, autosomal recessive, 1 10.7
45 breath-holding spells 10.7
46 muscular dystrophy, congenital merosin-deficient, 1a 10.7
47 urofacial syndrome 2 10.7
48 crisponi/cold-induced sweating syndrome 3 10.7
49 sydenham chorea 10.7
50 bipolar disorder 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:

57
Skull:
scaphocephaly
dolichocephaly
oxycephaly

Neuro:
normal intelligence

Radiology:
beaten copper appearance of skull


Clinical features from OMIM:

123100

Human phenotypes related to Craniosynostosis 1:

32
# Description HPO Frequency HPO Source Accession
1 turricephaly 32 HP:0000262
2 craniosynostosis 32 HP:0001363
3 oxycephaly 32 HP:0000263
4 scaphocephaly 32 HP:0030799

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 TWIST1 ERF
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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
2 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
3 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Antifibrinolytic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Skullcap Nutraceutical Phase 4,Phase 1
6
Lenograstim Approved, Investigational Phase 3 135968-09-1
7
Etoposide Approved Phase 3 33419-42-0 36462
8
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
9
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
10
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
11
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
12
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
13
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
14
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
15
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
16
Melphalan Approved Phase 3 148-82-3 4053 460612
17
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
18
Doxil Approved June 1999 Phase 3 31703
19 Alkylating Agents Phase 3
20 topoisomerase I inhibitors Phase 3
21 Adjuvants, Immunologic Phase 3
22 Topoisomerase Inhibitors Phase 3
23 Dermatologic Agents Phase 3
24 Anti-Bacterial Agents Phase 3
25 Antibiotics, Antitubercular Phase 3
26 Etoposide phosphate Phase 3
27 Immunosuppressive Agents Phase 3
28 Antirheumatic Agents Phase 3
29 Antimitotic Agents Phase 3
30 Antineoplastic Agents, Alkylating Phase 3
31 Antineoplastic Agents, Phytogenic Phase 3
32 phenylalanine Nutraceutical Phase 3
33
Aminocaproic Acid Approved, Investigational Phase 2,Phase 1 60-32-2 564
34
Iron Approved Not Applicable 7439-89-6 23925
35 Analgesics
36 Peripheral Nervous System Agents
37
Bilirubin Not Applicable 635-65-4 5280352
38 Epoetin alfa Not Applicable 113427-24-0
39 Ferrous fumarate Not Applicable
40 Micronutrients Not Applicable
41 Hematinics Not Applicable
42 Trace Elements Not Applicable
43 Calcium, Dietary Not Applicable
44 Calamus Nutraceutical Not Applicable

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed 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 Active, not 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 Non-invasive Epicutaneous Transfontanel Intracranial Pressure Monitoring in Children Under the Age of One: a Novel Technique Unknown status NCT02775669
10 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
11 Genetic Analysis of Craniosynostosis, Philadelphia Type Completed NCT00367796
12 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
13 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321 Not Applicable Tranexamic Acid;normal saline
14 Child and Infant Learning Project Completed NCT00077831
15 MRI for Non-invasive Evaluation of Brain Stress Completed NCT01898650 Not Applicable
16 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
17 Genomic Profiling of the Residual Disease of Advanced-stage Ovarian Cancer After Neoadjuvant Chemotherapy Completed NCT03491033 chemotherapy
18 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
19 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable
20 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
21 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763
22 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 Not Applicable Ferrous fumarate
23 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
24 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702 Not Applicable
25 Optic Nerve Sheath Diameter in Craniosynostosis Recruiting NCT03131245
26 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
27 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
28 Osteogenic Profiling of Tissue From Children With Craniosynostosis Active, not recruiting NCT00773643 Not Applicable
29 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281 Not Applicable
30 Cranial Cup Use for the Prevention of Positional Head Shape Deformity in the NICU Terminated NCT01218087 Not Applicable
31 Endoscopic Treatment for Isolated, Single Suture Craniosynostosis Withdrawn NCT00769847
32 Hanger Helmet Study Withdrawn NCT02561728 Not Applicable

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:

41
Brain, Bone

Publications for Craniosynostosis 1

Variations for Craniosynostosis 1

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

75
# 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
(show top 50) (show all 60)
# 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.556G> A (p.Ala186Thr) single nucleotide variant Pathogenic rs121909190 GRCh38 Chromosome 7, 19116766: 19116766
3 TWIST1 NM_000474.3(TWIST1): c.563C> T (p.Ser188Leu) single nucleotide variant Pathogenic rs121909191 GRCh37 Chromosome 7, 19156382: 19156382
4 TWIST1 NM_000474.3(TWIST1): c.563C> T (p.Ser188Leu) single nucleotide variant Pathogenic rs121909191 GRCh38 Chromosome 7, 19116759: 19116759
5 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
6 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh38 Chromosome 19, 42249565: 42249565
7 TWIST1 NM_000474.3(TWIST1): c.259_276del18 (p.Ala87_Gly92del) deletion Benign rs544465774 GRCh37 Chromosome 7, 19156669: 19156686
8 TWIST1 NM_000474.3(TWIST1): c.259_276del18 (p.Ala87_Gly92del) deletion Benign rs544465774 GRCh38 Chromosome 7, 19117046: 19117063
9 KAT6B NM_012330.3(KAT6B): c.3154_3169del16 (p.Arg1052Serfs) deletion Uncertain significance rs1057519003 GRCh37 Chromosome 10, 76781771: 76781786
10 KAT6B NM_012330.3(KAT6B): c.3154_3169del16 (p.Arg1052Serfs) deletion Uncertain significance rs1057519003 GRCh38 Chromosome 10, 75022013: 75022028
11 TWIST1 NM_000474.3(TWIST1): c.395G> C (p.Arg132Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 19156550: 19156550
12 TWIST1 NM_000474.3(TWIST1): c.395G> C (p.Arg132Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 19116927: 19116927
13 TWIST1 NM_000474.3(TWIST1): c.395_415del21 (p.Arg132_Leu138del) deletion Uncertain significance GRCh37 Chromosome 7, 19156530: 19156550
14 TWIST1 NM_000474.3(TWIST1): c.395_415del21 (p.Arg132_Leu138del) deletion Uncertain significance GRCh38 Chromosome 7, 19116907: 19116927
15 TWIST1 NM_000474.3(TWIST1): c.180C> T (p.Val60=) single nucleotide variant Likely benign rs565371578 GRCh37 Chromosome 7, 19156765: 19156765
16 TWIST1 NM_000474.3(TWIST1): c.180C> T (p.Val60=) single nucleotide variant Likely benign rs565371578 GRCh38 Chromosome 7, 19117142: 19117142
17 TWIST1 NM_000474.3(TWIST1): c.455C> A (p.Ala152Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 19156490: 19156490
18 TWIST1 NM_000474.3(TWIST1): c.455C> A (p.Ala152Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 19116867: 19116867
19 TWIST1 NM_000474.3(TWIST1): c.256_276dup (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly) duplication Benign GRCh37 Chromosome 7, 19156669: 19156689
20 TWIST1 NM_000474.3(TWIST1): c.256_276dup (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly) duplication Benign GRCh38 Chromosome 7, 19117046: 19117066
21 ERF NM_006494.3(ERF): c.733delC (p.Leu245Serfs) deletion Pathogenic GRCh38 Chromosome 19, 42249379: 42249379
22 ERF NM_006494.3(ERF): c.733delC (p.Leu245Serfs) deletion Pathogenic GRCh37 Chromosome 19, 42753531: 42753531
23 ERF NM_006494.3(ERF): c.1263G> C (p.Pro421=) single nucleotide variant Likely benign rs750423382 GRCh37 Chromosome 19, 42753001: 42753001
24 ERF NM_006494.3(ERF): c.1263G> C (p.Pro421=) single nucleotide variant Likely benign rs750423382 GRCh38 Chromosome 19, 42248849: 42248849
25 ERF NM_006494.3(ERF): c.1104T> C (p.Ser368=) single nucleotide variant Benign rs76105803 GRCh37 Chromosome 19, 42753160: 42753160
26 ERF NM_006494.3(ERF): c.1104T> C (p.Ser368=) single nucleotide variant Benign rs76105803 GRCh38 Chromosome 19, 42249008: 42249008
27 ERF NM_006494.3(ERF): c.1244C> T (p.Ala415Val) single nucleotide variant Benign rs139842507 GRCh37 Chromosome 19, 42753020: 42753020
28 ERF NM_006494.3(ERF): c.1244C> T (p.Ala415Val) single nucleotide variant Benign rs139842507 GRCh38 Chromosome 19, 42248868: 42248868
29 ERF NM_006494.3(ERF): c.1113_1115delTTC (p.Ser373del) deletion Likely benign rs199960550 GRCh38 Chromosome 19, 42248997: 42248999
30 ERF NM_006494.3(ERF): c.1113_1115delTTC (p.Ser373del) deletion Likely benign rs199960550 GRCh37 Chromosome 19, 42753149: 42753151
31 ERF NM_006494.3(ERF): c.840G> A (p.Ser280=) single nucleotide variant Benign rs145699948 GRCh38 Chromosome 19, 42249272: 42249272
32 ERF NM_006494.3(ERF): c.840G> A (p.Ser280=) single nucleotide variant Benign rs145699948 GRCh37 Chromosome 19, 42753424: 42753424
33 ERF NM_006494.3(ERF): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 42249493: 42249493
34 ERF NM_006494.3(ERF): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 42753645: 42753645
35 TWIST1 NM_000474.3(TWIST1): c.560T> C (p.Phe187Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 19156385: 19156385
36 TWIST1 NM_000474.3(TWIST1): c.560T> C (p.Phe187Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 19116762: 19116762
37 TWIST1 NM_000474.3(TWIST1): c.408dup (p.Thr137Hisfs) duplication Likely pathogenic GRCh37 Chromosome 7, 19156537: 19156537
38 TWIST1 NM_000474.3(TWIST1): c.408dup (p.Thr137Hisfs) duplication Likely pathogenic GRCh38 Chromosome 7, 19116914: 19116914
39 TWIST1 NM_000474.3(TWIST1): c.33G> T (p.Ser11=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 19156912: 19156912
40 TWIST1 NM_000474.3(TWIST1): c.33G> T (p.Ser11=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 19117289: 19117289
41 TWIST1 NM_000474.3(TWIST1): c.346C> G (p.Arg116Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 19156599: 19156599
42 TWIST1 NM_000474.3(TWIST1): c.346C> G (p.Arg116Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 19116976: 19116976
43 TWIST1 NM_000474.3(TWIST1): c.341A> C (p.Asn114Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 19156604: 19156604
44 TWIST1 NM_000474.3(TWIST1): c.341A> C (p.Asn114Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 19116981: 19116981
45 TWIST1 NM_000474.3(TWIST1): c.132_142delCAGCGCGGGCG (p.Ser45Argfs) deletion Pathogenic GRCh37 Chromosome 7, 19156803: 19156813
46 TWIST1 NM_000474.3(TWIST1): c.132_142delCAGCGCGGGCG (p.Ser45Argfs) deletion Pathogenic GRCh38 Chromosome 7, 19117180: 19117190
47 TWIST1 NM_000474.3(TWIST1) duplication Pathogenic GRCh37 Chromosome 7, 19156529: 19156549
48 TWIST1 NM_000474.3(TWIST1) duplication Pathogenic GRCh38 Chromosome 7, 19116906: 19116926
49 TWIST1 NM_000474.3(TWIST1): c.260_274dup (p.Gly91_Gly92insAlaGlyGlyGlyGly) duplication Benign GRCh38 Chromosome 7, 19117048: 19117062
50 TWIST1 NM_000474.3(TWIST1): c.260_274dup (p.Gly91_Gly92insAlaGlyGlyGlyGly) duplication Benign GRCh37 Chromosome 7, 19156671: 19156685

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 negative regulation of transcription, DNA-templated GO:0045892 9.16 KAT6B TWIST1
2 regulation of transcription, DNA-templated GO:0006355 9.13 ERF KAT6B TWIST1
3 transcription, DNA-templated GO:0006351 8.8 ERF KAT6B TWIST1

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 ERF KAT6B TWIST1
2 transcription factor binding GO:0008134 8.62 KAT6B TWIST1

Sources for Craniosynostosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....