CRS1
MCID: CRN278
MIFTS: 44

Craniosynostosis 1 (CRS1)

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

Aliases & Classifications for Craniosynostosis 1

MalaCards integrated aliases for Craniosynostosis 1:

Name: Craniosynostosis 1 58 76 30 6
Craniostenosis 58 77 76
Craniosynostosis, Type 1 13 41
Crs1 58 76
Crs 58 76
Craniosynostosis 74
Cry 77

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
craniosynostosis 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 123100
MeSH 45 D003398
UMLS 74 C0010278

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 Etoposide and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone, and related phenotypes are turricephaly and craniosynostosis

OMIM : 58 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 : 76 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 : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... 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 392)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 30.6 ERF KAT6B TWIST1
2 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 12.1
3 gigantism advanced bone age hoarse cry 12.1
4 craniostenosis cataract 12.1
5 cri-du-chat syndrome 12.1
6 congenital rubella 12.1
7 scarf syndrome 12.0
8 pseudobulbar affect 11.9
9 cayler cardiofacial syndrome 11.8
10 rubella 11.6
11 postpartum depression 11.4
12 otitis media 11.2
13 cardiocranial syndrome 11.2
14 laryngomalacia 11.2
15 encephalitis 11.2
16 osteoglophonic dysplasia 11.1
17 hypophosphatasia, infantile 11.1
18 sudden infant death with dysgenesis of the testes syndrome 11.1
19 cerebral creatine deficiency syndrome 1 11.1
20 pfeiffer tietze welte syndrome 11.1
21 craniosynostosis 4 11.1
22 craniosynostosis 2 11.1
23 craniosynostosis 3 11.1
24 craniosynostosis 5 11.1
25 craniosynostosis 6 11.1
26 craniosynostosis 7 11.1
27 shprintzen-goldberg craniosynostosis syndrome 11.1
28 lipoid proteinosis of urbach and wiethe 11.0
29 crisponi/cold-induced sweating syndrome 1 11.0
30 weaver syndrome 11.0
31 crisponi/cold-induced sweating syndrome 2 11.0
32 opitz gbbb syndrome, type ii 10.9
33 laryngeal web, familial 10.9
34 omphalocele, autosomal 10.9
35 farber lipogranulomatosis 10.9
36 urofacial syndrome 1 10.9
37 hypothalamic hamartomas 10.9
38 pseudo-torch syndrome 1 10.9
39 leigh syndrome 10.9
40 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
41 spinal muscular atrophy, distal, autosomal recessive, 1 10.9
42 breath-holding spells 10.9
43 muscular dystrophy, congenital merosin-deficient, 1a 10.9
44 urofacial syndrome 2 10.9
45 crisponi/cold-induced sweating syndrome 3 10.9
46 sydenham chorea 10.9
47 bipolar disorder 10.9
48 aicardi-goutieres syndrome 10.9
49 serous glue ear 10.9
50 hydranencephaly 10.9

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:

33
# Description HPO Frequency HPO Source Accession
1 turricephaly 33 HP:0000262
2 craniosynostosis 33 HP:0001363
3 oxycephaly 33 HP:0000263
4 scaphocephaly 33 HP:0030799

Symptoms via clinical synopsis from OMIM:

58
Skull:
dolichocephaly
oxycephaly
scaphocephaly

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:

27 (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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
3
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
4
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
5
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
6
Melphalan Approved Phase 3 148-82-3 460612 4053
7
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
8
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
9
Lenograstim Approved, Investigational Phase 3 135968-09-1
10
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
11
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
12
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
13
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 444795 5538
14
Doxil Approved June 1999 Phase 3 31703
15 topoisomerase I inhibitors Phase 3
16 Topoisomerase Inhibitors Phase 3
17 Antimitotic Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Anti-Bacterial Agents Phase 3
20 Immunosuppressive Agents Phase 3
21 Dermatologic Agents Phase 3
22 Antineoplastic Agents, Phytogenic Phase 3
23 Antineoplastic Agents, Alkylating Phase 3
24 Immunologic Factors Phase 3
25 Etoposide phosphate Phase 3
26 phenylalanine Phase 3
27 Alkylating Agents Phase 3
28 Adjuvants, Immunologic Phase 3
29 Antibiotics, Antitubercular Phase 3
30 taxane

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Bioimpedance and Hand-held Echocardiographay for Clinical Decision-making in Treatment of Cardio-renal Syndrome Type I Not yet recruiting NCT02959281 Not Applicable
3 Genomic Profiling of the Residual Disease of Advanced-stage Ovarian Cancer After Neoadjuvant Chemotherapy Completed NCT03491033 chemotherapy

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 30 TWIST1

Anatomical Context for Craniosynostosis 1

MalaCards organs/tissues related to Craniosynostosis 1:

42
Brain, Heart, Bone, Kidney, Lung, Neutrophil, Myeloid

Publications for Craniosynostosis 1

Articles related to Craniosynostosis 1:

(show top 50) (show all 74)
# Title Authors Year
1
Armored Brain Associated with Secondary Craniostenosis Development at 7-year following Ventriculoperitoneal Shunt Surgery during Infancy: Extremely Unusual Association and Review. ( 30459888 )
2018
2
Craniostenosis: a neurosurgeon's perspective. ( 25203566 )
2014
3
Evaluation of obstructive sleep apnea in pediatric patients with facio-craniostenosis: a brief communication. ( 22661220 )
2012
4
Craniostenosis. ( 22069426 )
2011
5
Preoperative and postoperative transcranial Doppler sonographic evaluations of the cerebral hemodynamics of craniostenosis. ( 20216458 )
2010
6
BaS analysis: suggesting a new cephalometric model in follow-up of patients with craniostenosis who underwent craniofacial advancement surgery after 1 year from the end of the distraction protocol. ( 19381100 )
2009
7
Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. ( 17343269 )
2007
8
Distraction osteogenesis in the surgical treatment of craniostenosis: a comparison of internal and external craniofacial distractor devices. ( 17876585 )
2007
9
Maternal drug use, fertility problems, and infant craniostenosis. ( 16241169 )
2005
10
Neurophysiological evaluation with multimodality evoked potentials in craniostenosis and craniofacial stenosis. ( 9482053 )
1997
11
Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies. ( 8244339 )
1993
12
Apert syndrome. Diagnosis and treatment of craniostenosis and intracranial anomalies. ( 2065486 )
1991
13
Autologous hemodonation in the corrective surgery of craniostenosis. ( 2054807 )
1991
14
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). ( 2596519 )
1989
15
Rare form of craniostenosis known as cloverleaf or Kleeblattschädel syndrome. ( 2630372 )
1989
16
Operatory indications and licence of craniostenosis. ( 3225648 )
1988
17
Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs--a "new" syndrome? ( 3582410 )
1987
18
Craniostenosis: the importance of the anesthesiologist. ( 4061018 )
1985
19
Intracranial pressure changes in craniostenosis. ( 6701771 )
1984
20
Craniostenosis secondary to calcified subperiosteal hematoma: case report. ( 6504286 )
1984
21
Ultrastructural changes of basal laminae and protoplasmic astrocytes in craniostenosis with epilepsy. ( 6682897 )
1983
22
Contribution to the histological and microradiographic study of the craniostenosis. ( 6359822 )
1983
23
Intracranial pressure in craniostenosis. ( 7097333 )
1982
24
Craniostenosis. ( 7331539 )
1981
25
CT scan and craniostenosis. ( 7328430 )
1981
26
Sensorimotor disturbances in craniostenosis. ( 7299610 )
1981
27
Craniostenosis: a new approach to management. ( 7022343 )
1981
28
Coronal craniostenosis: fetal head constraint as one possible cause. ( 7367144 )
1980
29
Metopic craniostenosis as a consequence of fetal head constraint: two interesting experiments of nature. ( 7367110 )
1980
30
Variation of technique in the surgical treatment of craniostenosis (total craniectomy and simultaneous reconstruction of the cranial vault with acrylic resin plastic). ( 7336084 )
1980
31
Contribution to the study of craniostenosis: disturbance of the cerebrospinal fluid flow in oxycephaly. ( 500383 )
1979
32
Sagittal craniostenosis: fetal head constraint as one possible cause. ( 490245 )
1979
33
Radical forehead remodeling for craniostenosis. ( 662945 )
1978
34
Cephalometric growth norms and inborn anomalies (deviations of the interocular distance and the diagnosis of craniostenosis). ( 83761 )
1978
35
Craniostenosis. ( 876663 )
1977
36
Aspects on craniostenosis. ( 207110 )
1976
37
Craniostenosis. ( 1205576 )
1975
38
Hypersarcosinemia with craniostenosis-syndactylism syndrome. ( 168149 )
1975
39
Some observations on cleido-cranial dysostosis and craniostenosis. ( 4534984 )
1974
40
Polysynostosis: the association of extracranial synostosis and craniostenosis. ( 4415125 )
1974
41
Craniostenosis. Roentgenological and craniometric features. ( 4831792 )
1974
42
Craniostenosis and diploic lamination following operation for hydrocephalus. ( 4660148 )
1972
43
The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis, and cleft palate. ( 5116596 )
1971
44
The tripartite osteotomy of the mid-face for orbital expansion and correction of the deformity in craniostenosis. ( 5115039 )
1971
45
Craniostenosis. ( 5002743 )
1971
46
Microcephaly and craniostenosis. ( 5417243 )
1970
47
Craniostenosis following Holter valve operation. ( 5276396 )
1970
48
Craniostenosis in one dizygotic twin. ( 4891058 )
1969
49
EEG aspects in craniostenosis. ( 4188851 )
1969
50
Anesthesia for craniostenosis. ( 5188647 )
1968

Variations for Craniosynostosis 1

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

76
# 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 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 NM_000474.3(TWIST1): c.563C> T (p.Ser188Leu) single nucleotide variant Pathogenic rs121909191 GRCh38 Chromosome 7, 19116759: 19116759
2 TWIST1 NM_000474.3(TWIST1): c.556G> A (p.Ala186Thr) single nucleotide variant Pathogenic rs121909190 GRCh37 Chromosome 7, 19156389: 19156389
3 TWIST1 NM_000474.3(TWIST1): c.556G> A (p.Ala186Thr) single nucleotide variant Pathogenic rs121909190 GRCh38 Chromosome 7, 19116766: 19116766
4 TWIST1 NM_000474.3(TWIST1): c.563C> T (p.Ser188Leu) single nucleotide variant Pathogenic rs121909191 GRCh37 Chromosome 7, 19156382: 19156382
5 TWIST1 NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter) single nucleotide variant Pathogenic rs121909188 GRCh37 Chromosome 7, 19156569: 19156569
6 TWIST1 NM_000474.3(TWIST1): c.376G> T (p.Glu126Ter) single nucleotide variant Pathogenic rs121909188 GRCh38 Chromosome 7, 19116946: 19116946
7 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
8 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh38 Chromosome 19, 42249565: 42249565
9 TWIST1 NM_000474.3(TWIST1): c.94G> A (p.Gly32Ser) single nucleotide variant Uncertain significance rs878852992 GRCh37 Chromosome 7, 19156851: 19156851
10 TWIST1 NM_000474.3(TWIST1): c.94G> A (p.Gly32Ser) single nucleotide variant Uncertain significance rs878852992 GRCh38 Chromosome 7, 19117228: 19117228
11 TWIST1 NM_000474.3(TWIST1): c.259_276delGCGGGCGGCGGCGGCGGC (p.Ala87_Gly92del) deletion Benign/Likely benign rs544465774 GRCh37 Chromosome 7, 19156669: 19156686
12 TWIST1 NM_000474.3(TWIST1): c.259_276delGCGGGCGGCGGCGGCGGC (p.Ala87_Gly92del) deletion Benign/Likely benign rs544465774 GRCh38 Chromosome 7, 19117046: 19117063
13 KAT6B NM_012330.3(KAT6B): c.3154_3169del16 (p.Arg1052Serfs) deletion Uncertain significance rs1057519003 GRCh37 Chromosome 10, 76781771: 76781786
14 KAT6B NM_012330.3(KAT6B): c.3154_3169del16 (p.Arg1052Serfs) deletion Uncertain significance rs1057519003 GRCh38 Chromosome 10, 75022013: 75022028
15 TWIST1 NM_000474.3(TWIST1): c.395G> C (p.Arg132Pro) single nucleotide variant Likely pathogenic rs1554441995 GRCh37 Chromosome 7, 19156550: 19156550
16 TWIST1 NM_000474.3(TWIST1): c.395G> C (p.Arg132Pro) single nucleotide variant Likely pathogenic rs1554441995 GRCh38 Chromosome 7, 19116927: 19116927
17 TWIST1 NC_000007.14: g.(?_19116693)_(19117341_?)del deletion Pathogenic GRCh38 Chromosome 7, 19116693: 19117341
18 TWIST1 NM_000474.3(TWIST1): c.395_415del (p.Arg132_Leu138del) deletion Uncertain significance rs1554441992 GRCh37 Chromosome 7, 19156530: 19156550
19 TWIST1 NM_000474.3(TWIST1): c.395_415del (p.Arg132_Leu138del) deletion Uncertain significance rs1554441992 GRCh38 Chromosome 7, 19116907: 19116927
20 TWIST1 NM_000474.3(TWIST1): c.180C> T (p.Val60=) single nucleotide variant Likely benign rs565371578 GRCh37 Chromosome 7, 19156765: 19156765
21 TWIST1 NM_000474.3(TWIST1): c.180C> T (p.Val60=) single nucleotide variant Likely benign rs565371578 GRCh38 Chromosome 7, 19117142: 19117142
22 TWIST1 NM_000474.3(TWIST1): c.455C> A (p.Ala152Glu) single nucleotide variant Uncertain significance rs1554441982 GRCh37 Chromosome 7, 19156490: 19156490
23 TWIST1 NM_000474.3(TWIST1): c.455C> A (p.Ala152Glu) single nucleotide variant Uncertain significance rs1554441982 GRCh38 Chromosome 7, 19116867: 19116867
24 TWIST1 NM_000474.3(TWIST1): c.256_276dup (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly) duplication Benign rs544465774 GRCh37 Chromosome 7, 19156669: 19156689
25 TWIST1 NM_000474.3(TWIST1): c.256_276dup (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly) duplication Benign rs544465774 GRCh38 Chromosome 7, 19117046: 19117066
26 ERF NM_006494.3(ERF): c.733delC (p.Leu245Serfs) deletion Pathogenic rs1555750741 GRCh37 Chromosome 19, 42753531: 42753531
27 ERF NM_006494.3(ERF): c.733delC (p.Leu245Serfs) deletion Pathogenic rs1555750741 GRCh38 Chromosome 19, 42249379: 42249379
28 ERF NM_006494.3(ERF): c.1263G> C (p.Pro421=) single nucleotide variant Likely benign rs750423382 GRCh37 Chromosome 19, 42753001: 42753001
29 ERF NM_006494.3(ERF): c.1263G> C (p.Pro421=) single nucleotide variant Likely benign rs750423382 GRCh38 Chromosome 19, 42248849: 42248849
30 ERF NM_006494.3(ERF): c.1104T> C (p.Ser368=) single nucleotide variant Benign rs76105803 GRCh37 Chromosome 19, 42753160: 42753160
31 ERF NM_006494.3(ERF): c.1104T> C (p.Ser368=) single nucleotide variant Benign rs76105803 GRCh38 Chromosome 19, 42249008: 42249008
32 ERF NM_006494.3(ERF): c.1244C> T (p.Ala415Val) single nucleotide variant Benign rs139842507 GRCh38 Chromosome 19, 42248868: 42248868
33 ERF NM_006494.3(ERF): c.1244C> T (p.Ala415Val) single nucleotide variant Benign rs139842507 GRCh37 Chromosome 19, 42753020: 42753020
34 ERF NM_006494.3(ERF): c.1113_1115delTTC (p.Ser373del) deletion Likely benign rs199960550 GRCh38 Chromosome 19, 42248997: 42248999
35 ERF NM_006494.3(ERF): c.1113_1115delTTC (p.Ser373del) deletion Likely benign rs199960550 GRCh37 Chromosome 19, 42753149: 42753151
36 ERF NM_006494.3(ERF): c.840G> A (p.Ser280=) single nucleotide variant Benign rs145699948 GRCh38 Chromosome 19, 42249272: 42249272
37 ERF NM_006494.3(ERF): c.840G> A (p.Ser280=) single nucleotide variant Benign rs145699948 GRCh37 Chromosome 19, 42753424: 42753424
38 ERF NM_006494.3(ERF): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs1555750795 GRCh38 Chromosome 19, 42249493: 42249493
39 ERF NM_006494.3(ERF): c.619C> T (p.Arg207Ter) single nucleotide variant Pathogenic rs1555750795 GRCh37 Chromosome 19, 42753645: 42753645
40 TWIST1 NM_000474.3(TWIST1): c.560T> C (p.Phe187Ser) single nucleotide variant Uncertain significance rs1554441944 GRCh37 Chromosome 7, 19156385: 19156385
41 TWIST1 NM_000474.3(TWIST1): c.560T> C (p.Phe187Ser) single nucleotide variant Uncertain significance rs1554441944 GRCh38 Chromosome 7, 19116762: 19116762
42 TWIST1 NM_000474.3(TWIST1): c.408dup (p.Thr137Hisfs) duplication Likely pathogenic rs1554441993 GRCh38 Chromosome 7, 19116914: 19116914
43 TWIST1 NM_000474.3(TWIST1): c.408dup (p.Thr137Hisfs) duplication Likely pathogenic rs1554441993 GRCh37 Chromosome 7, 19156537: 19156537
44 TWIST1 NM_000474.3(TWIST1): c.33G> T (p.Ser11=) single nucleotide variant Likely benign rs1554442101 GRCh37 Chromosome 7, 19156912: 19156912
45 TWIST1 NM_000474.3(TWIST1): c.33G> T (p.Ser11=) single nucleotide variant Likely benign rs1554442101 GRCh38 Chromosome 7, 19117289: 19117289
46 TWIST1 NM_000474.3(TWIST1): c.346C> G (p.Arg116Gly) single nucleotide variant Likely pathogenic rs1554442019 GRCh37 Chromosome 7, 19156599: 19156599
47 TWIST1 NM_000474.3(TWIST1): c.346C> G (p.Arg116Gly) single nucleotide variant Likely pathogenic rs1554442019 GRCh38 Chromosome 7, 19116976: 19116976
48 TWIST1 NM_000474.3(TWIST1): c.341A> C (p.Asn114Thr) single nucleotide variant Uncertain significance rs1554442021 GRCh37 Chromosome 7, 19156604: 19156604
49 TWIST1 NM_000474.3(TWIST1): c.341A> C (p.Asn114Thr) single nucleotide variant Uncertain significance rs1554442021 GRCh38 Chromosome 7, 19116981: 19116981
50 TWIST1 NM_000474.3(TWIST1): c.132_142delCAGCGCGGGCG (p.Ser45Argfs) deletion Pathogenic rs1554442082 GRCh37 Chromosome 7, 19156803: 19156813

Expression for Craniosynostosis 1

Search GEO for disease gene expression data for Craniosynostosis 1.

Pathways for Craniosynostosis 1

GO Terms for Craniosynostosis 1

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.62 KAT6B TWIST1

Sources for Craniosynostosis 1

3 CDC
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10 dbSNP
11 DGIdb
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63 PubMed
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71 SNOMED-CT via Orphanet
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