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:

(showing 465, show less)
# 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
51 colorectal cancer 10.2
52 dermatitis 10.2
53 cleft palate, isolated 10.2
54 microcephaly 10.2
55 dysostosis 10.2
56 plagiocephaly 10.2
57 hypertension, essential 10.1
58 contact dermatitis 10.1
59 pseudomyxoma peritonei 10.1
60 allergic encephalomyelitis 10.1
61 ovarian cancer 10.1
62 coronary heart disease 1 10.1
63 dumping syndrome 10.1
64 periodontitis, chronic 10.1
65 lymphocytic leukemia 10.1
66 acute leukemia 10.1
67 peritoneal mesothelioma 10.1
68 obsolete: ehlers-danlos syndrome, fibronectinemic type 10.1
69 esophageal cancer 10.0
70 attention deficit-hyperactivity disorder 10.0
71 biliary atresia, extrahepatic 10.0
72 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
73 myeloma, multiple 10.0
74 aging 10.0
75 pulmonary hypertension, primary, 3 10.0
76 neutropenia 10.0
77 b-cell lymphoma 10.0
78 tremor 10.0
79 down syndrome 10.0
80 adducted thumbs syndrome 10.0
81 cryptorchidism, unilateral or bilateral 10.0
82 phenylketonuria 10.0
83 pycnodysostosis 10.0
84 thumbs, congenital clasped 10.0
85 ataxia and polyneuropathy, adult-onset 10.0
86 polydactyly 10.0
87 intraocular pressure quantitative trait locus 10.0
88 meningocele 10.0
89 goiter 10.0
90 obstructive hydrocephalus 10.0
91 gonadal dysgenesis 10.0
92 papilledema 10.0
93 ankylosis 10.0
94 cutis laxa 10.0
95 turner syndrome 10.0
96 infertility 10.0
97 exophthalmos 10.0
98 fgfr-related craniosynostosis syndromes 10.0
99 chromosomal triplication 10.0
100 encephalocele 10.0
101 pectus carinatum 10.0
102 bicornuate uterus 10.0
103 hepatocellular carcinoma 10.0
104 osteogenic sarcoma 10.0
105 astigmatism 10.0
106 anxiety 10.0
107 acute promyelocytic leukemia 10.0
108 leukemia, acute lymphoblastic 10.0
109 leukemia, acute lymphoblastic 3 10.0
110 constipation 10.0
111 iron metabolism disease 10.0
112 adenocarcinoma 10.0
113 hyperglycemia 10.0
114 liver cirrhosis 10.0
115 kidney disease 10.0
116 ileus 10.0
117 stomatitis 10.0
118 systolic heart failure 10.0
119 heavy metal poisoning 10.0
120 bladder cancer 9.9
121 breast cancer 9.9
122 branchiootic syndrome 1 9.9
123 major depressive disorder 9.9
124 graft-versus-host disease 9.9
125 angina pectoris 9.9
126 exanthem 9.9
127 sleep apnea 9.9
128 scoliosis 9.9
129 bone resorption disease 9.9
130 gingival recession 9.9
131 dilated cardiomyopathy 9.9
132 diarrhea 9.9
133 aggressive periodontitis 9.9
134 thrombocytopenia 9.9
135 mental depression 9.9
136 dental caries 9.9
137 focal epilepsy 9.9
138 allergic contact dermatitis 9.9
139 temporal lobe epilepsy 9.9
140 rhinitis 9.9
141 pancreatitis 9.9
142 t-cell leukemia 9.9
143 osteoarthritis 9.9
144 measles 9.9
145 refractive error 9.9
146 acute graft versus host disease 9.9
147 anaplastic oligoastrocytoma 9.9
148 cytokine deficiency 9.9
149 glioma 9.9
150 depression 9.9
151 back pain 9.9
152 head injury 9.9
153 malignant peritoneal mesothelioma 9.9
154 glial tumor 9.9
155 autoimmune disease 9.8
156 osteoporosis 9.8
157 papillomatosis, confluent and reticulated 9.8
158 parkinson disease, late-onset 9.8
159 polykaryocytosis inducer 9.8
160 dowling-degos disease 1 9.8
161 small cell cancer of the lung 9.8
162 ataxia-telangiectasia 9.8
163 fanconi anemia, complementation group d2 9.8
164 fanconi anemia, complementation group a 9.8
165 chronic recurrent multifocal osteomyelitis 9.8
166 pancreatic cancer 9.8
167 macular degeneration, age-related, 1 9.8
168 dermatitis, atopic 9.8
169 fanconi anemia, complementation group d1 9.8
170 allergic rhinitis 9.8
171 resting heart rate, variation in 9.8
172 malaria 9.8
173 bone mineral density quantitative trait locus 8 9.8
174 microvascular complications of diabetes 5 9.8
175 bone mineral density quantitative trait locus 15 9.8
176 myelodysplastic syndrome 9.8
177 pulmonary hypertension, primary, 2 9.8
178 pulmonary hypertension, primary, 4 9.8
179 chorea, childhood-onset, with psychomotor retardation 9.8
180 deficiency anemia 9.8
181 autosomal recessive disease 9.8
182 diffuse large b-cell lymphoma 9.8
183 respiratory failure 9.8
184 chronic apical periodontitis 9.8
185 pulmonary edema 9.8
186 splenic sequestration 9.8
187 visual epilepsy 9.8
188 cryptococcosis 9.8
189 telangiectasis 9.8
190 choreatic disease 9.8
191 mucocele of salivary gland 9.8
192 acute cystitis 9.8
193 generalized anxiety disorder 9.8
194 urticaria 9.8
195 cystitis 9.8
196 gastroenteritis 9.8
197 colon adenocarcinoma 9.8
198 central retinal vein occlusion 9.8
199 enamel erosion 9.8
200 acute pancreatitis 9.8
201 anuria 9.8
202 acute kidney failure 9.8
203 demyelinating disease 9.8
204 liver disease 9.8
205 epulis 9.8
206 schizoaffective disorder 9.8
207 eye disease 9.8
208 hemolytic anemia 9.8
209 neuroblastoma 9.8
210 cataract 9.8
211 lung disease 9.8
212 neuropathy 9.8
213 intermediate coronary syndrome 9.8
214 gas gangrene 9.8
215 acute myocardial infarction 9.8
216 aphthous stomatitis 9.8
217 alopecia 9.8
218 hypereosinophilic syndrome 9.8
219 candida glabrata 9.8
220 central serous chorioretinopathy 9.8
221 leukoplakia 9.8
222 oral leukoplakia 9.8
223 pyogenic granuloma 9.8
224 stenotrophomonas maltophilia infection 9.8
225 seizure disorder 9.8
226 posttransplant acute limbic encephalitis 9.8
227 ring chromosome 9.8
228 combined pulmonary fibrosis-emphysema syndrome 9.8
229 alzheimer disease 9.7
230 ankyloglossia with or without tooth anomalies 9.7
231 atrial standstill 1 9.7
232 cardiac conduction defect 9.7
233 multiple sclerosis 9.7
234 hashimoto thyroiditis 9.7
235 hypercholesterolemia, familial, 1 9.7
236 multiple system atrophy 1 9.7
237 keratitis, hereditary 9.7
238 leukemia, chronic lymphocytic 9.7
239 systemic lupus erythematosus 9.7
240 mesothelioma, malignant 9.7
241 myositis 9.7
242 iga nephropathy 1 9.7
243 palatopharyngeal incompetence 9.7
244 prostate cancer 9.7
245 spondylosis, cervical 9.7
246 strabismus 9.7
247 thrombophilia due to activated protein c resistance 9.7
248 amelogenesis imperfecta, hypomaturation type, iia1 9.7
249 anemia, autoimmune hemolytic 9.7
250 lung cancer 9.7
251 celiac disease 1 9.7
252 galactosemia 9.7
253 hydrops fetalis, nonimmune 9.7
254 leprosy 3 9.7
255 methane production 9.7
256 proteasome-associated autoinflammatory syndrome 1 9.7
257 thymoma, familial 9.7
258 werner syndrome 9.7
259 allan-herndon-dudley syndrome 9.7
260 retinitis pigmentosa 11 9.7
261 sacral defect with anterior meningocele 9.7
262 venous malformations, multiple cutaneous and mucosal 9.7
263 helicobacter pylori infection 9.7
264 suppression of tumorigenicity 12 9.7
265 osteoporosis and oculocutaneous hypopigmentation syndrome 9.7
266 wilms tumor 5 9.7
267 yemenite deaf-blind hypopigmentation syndrome 9.7
268 ventricular fibrillation, paroxysmal familial, 1 9.7
269 chudley-mccullough syndrome 9.7
270 aceruloplasminemia 9.7
271 temtamy preaxial brachydactyly syndrome 9.7
272 pulmonary disease, chronic obstructive 9.7
273 aplastic anemia 9.7
274 west nile virus 9.7
275 microphthalmia, syndromic 10 9.7
276 colorectal cancer 6 9.7
277 lung cancer susceptibility 3 9.7
278 microvascular complications of diabetes 3 9.7
279 microvascular complications of diabetes 4 9.7
280 microvascular complications of diabetes 6 9.7
281 microvascular complications of diabetes 7 9.7
282 neutropenia, severe congenital, 2, autosomal dominant 9.7
283 ectodermal dysplasia-syndactyly syndrome 2 9.7
284 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
285 sacral agenesis with vertebral anomalies 9.7
286 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
287 growth restriction, severe, with distinctive facies 9.7
288 hydrops, lactic acidosis, and sideroblastic anemia 9.7
289 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.7
290 alkuraya-kucinskas syndrome 9.7
291 congenital disorder of glycosylation with defective fucosylation 1 9.7
292 otomycosis 9.7
293 tick-borne encephalitis 9.7
294 familial adenomatous polyposis 9.7
295 mantle cell lymphoma 9.7
296 metabolic acidosis 9.7
297 colorectal adenoma 9.7
298 colorectal adenocarcinoma 9.7
299 fibroma 9.7
300 sexual disorder 9.7
301 lymphoma 9.7
302 salmonellosis 9.7
303 fibrous dysplasia 9.7
304 childhood acute lymphocytic leukemia 9.7
305 lymphoblastic lymphoma 9.7
306 mucositis 9.7
307 polycystic kidney disease 9.7
308 endometrial hyperplasia 9.7
309 angioimmunoblastic t-cell lymphoma 9.7
310 sensorineural hearing loss 9.7
311 osteonecrosis 9.7
312 thalassemia 9.7
313 aggressive nk-cell leukemia 9.7
314 suppression amblyopia 9.7
315 amblyopia 9.7
316 bacterial infectious disease 9.7
317 dentin caries 9.7
318 microinvasive gastric cancer 9.7
319 cardia cancer 9.7
320 tropical sprue 9.7
321 lepromatous leprosy 9.7
322 intracranial aneurysm 9.7
323 pulpitis 9.7
324 primary hyperparathyroidism 9.7
325 allergic conjunctivitis 9.7
326 disseminated intravascular coagulation 9.7
327 social phobia 9.7
328 pyelonephritis 9.7
329 polycystic ovary syndrome 9.7
330 lyme disease 9.7
331 iron deficiency anemia 9.7
332 myopia 9.7
333 hemosiderosis 9.7
334 dysthymic disorder 9.7
335 chagas disease 9.7
336 low compliance bladder 9.7
337 primary biliary cirrhosis 9.7
338 bile reflux 9.7
339 dementia 9.7
340 esophageal candidiasis 9.7
341 typhoid fever 9.7
342 pure red-cell aplasia 9.7
343 hyperparathyroidism 9.7
344 irregular astigmatism 9.7
345 interstitial cystitis 9.7
346 bacteriuria 9.7
347 frozen shoulder 9.7
348 glossitis 9.7
349 candidiasis 9.7
350 avoidant personality disorder 9.7
351 personality disorder 9.7
352 thrombocytopenia due to platelet alloimmunization 9.7
353 renovascular hypertension 9.7
354 duodenal ulcer 9.7
355 optic nerve disease 9.7
356 leiomyosarcoma 9.7
357 hyperinsulinism 9.7
358 hepatitis b 9.7
359 post-traumatic stress disorder 9.7
360 enamel caries 9.7
361 ascending colon cancer 9.7
362 essential thrombocythemia 9.7
363 myeloproliferative neoplasm 9.7
364 thrombocytosis 9.7
365 spondylosis 9.7
366 pharyngitis 9.7
367 arteriosclerosis 9.7
368 thrombophilia 9.7
369 transverse colon cancer 9.7
370 glucosephosphate dehydrogenase deficiency 9.7
371 glomerulonephritis 9.7
372 mucinous adenocarcinoma 9.7
373 glioblastoma multiforme 9.7
374 astrocytoma 9.7
375 gliosarcoma 9.7
376 interstitial lung disease 9.7
377 gingival overgrowth 9.7
378 papillary carcinoma 9.7
379 lipid metabolism disorder 9.7
380 oligodendroglioma 9.7
381 rhabdomyosarcoma 9.7
382 thymoma 9.7
383 vaccinia 9.7
384 teratoma 9.7
385 purpura 9.7
386 bone inflammation disease 9.7
387 fibrosarcoma 9.7
388 carotid artery disease 9.7
389 choriocarcinoma 9.7
390 appendix adenocarcinoma 9.7
391 ovary adenocarcinoma 9.7
392 systemic scleroderma 9.7
393 movement disease 9.7
394 ureteral obstruction 9.7
395 uterus leiomyosarcoma 9.7
396 blepharospasm 9.7
397 dystonia 9.7
398 large intestine cancer 9.7
399 peripheral nervous system disease 9.7
400 juvenile type testicular granulosa cell tumor 9.7
401 acute stress disorder 9.7
402 conjunctivitis 9.7
403 follicular adenoma 9.7
404 severe combined immunodeficiency 9.7
405 hypersplenism 9.7
406 adenoma 9.7
407 cerebrovascular disease 9.7
408 thyroiditis 9.7
409 active peptic ulcer disease 9.7
410 placenta disease 9.7
411 periapical periodontitis 9.7
412 peritonitis 9.7
413 polycythemia 9.7
414 intestinal obstruction 9.7
415 herpes simplex 9.7
416 gastroduodenitis 9.7
417 eating disorder 9.7
418 in situ carcinoma 9.7
419 crohn's disease 9.7
420 autosomal dominant polycystic kidney disease 9.7
421 amyloidosis 9.7
422 mechanical strabismus 9.7
423 lymphangitis 9.7
424 encephalitis 9.7
425 pathologic nystagmus 9.7
426 tenosynovitis 9.7
427 hypoglycemia 9.7
428 al amyloidosis 9.7
429 cataract-glaucoma 9.7
430 desmoplastic small round cell tumor 9.7
431 hansen's disease 9.7
432 orofacial granulomatosis 9.7
433 pediatric acute-onset neuropsychiatric syndrome 9.7
434 reversible cerebral vasoconstriction syndrome 9.7
435 specific antibody deficiency 9.7
436 splenomegaly 9.7
437 sutton disease 2 9.7
438 cerebral aneurysms 9.7
439 chronic pain 9.7
440 dysphagia 9.7
441 encephalopathy 9.7
442 hypoxia 9.7
443 pituitary tumors 9.7
444 spasticity 9.7
445 inflammatory myopathy with abundant macrophages 9.7
446 obsolete: atypical teratoid/rhabdoid tumor 9.7
447 rare hereditary hemochromatosis 9.7
448 mucinous adenocarcinoma of the appendix 9.7
449 osteonecrosis of the jaw 9.7
450 primary peritoneal serous/papillary carcinoma 9.7
451 congenital amyoplasia 9.7
452 cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome 9.7
453 premature aging 9.7
454 rare tumor 9.7
455 rare disease in surgical orthopedic 9.7
456 rare surgical neurologic disease 9.7
457 overgrowth syndrome 9.7
458 multiple system atrophy, parkinsonian type 9.7
459 red cell aplasia 9.7
460 thyroid carcinoma 9.7
461 epicanthus 9.7 TWIST1 KAT6B
462 blepharophimosis 9.6 TWIST1 KAT6B
463 isolated scaphocephaly 9.5 TWIST1 ERF
464 hypertelorism, microtia, facial clefting syndrome 9.5 TWIST1 ERF
465 ptosis 9.4 TWIST1 KAT6B

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 (showing 4, show less)
# 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 (showing 13, show less)
# 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):

(showing 33, show less)
# 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:

(showing 34, show less)
# 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:

(showing 78, show less)
# 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
51
A member of the Whirly family is a multifunctional RNA- and DNA-binding protein that is essential for chloroplast biogenesis. 61
18676978 2008
52
Characterization of the molecular basis of group II intron RNA recognition by CRS1-CRM domains. 61
18559344 2008
53
A 125 kDa RNase E/G-like protein is present in plastids and is essential for chloroplast development and autotrophic growth in Arabidopsis. 61
18515828 2008
54
The CRM domain: an RNA binding module derived from an ancient ribosome-associated protein. 61
17105995 2007
55
Arabidopsis orthologs of maize chloroplast splicing factors promote splicing of orthologous and species-specific group II introns. 61
17071648 2006
56
Expression of beta-defensins in the tubotympanum of experimental otitis media. 61
16923707 2006
57
Negative control contributes to an extensive program of meiotic splicing in fission yeast. 61
15893732 2005
58
CRS1, a chloroplast group II intron splicing factor, promotes intron folding through specific interactions with two intron domains. 61
15598799 2005
59
Group II intron splicing factors derived by diversification of an ancient RNA-binding domain. 61
12881426 2003
60
CRS1 is a novel group II intron splicing factor that was derived from a domain of ancient origin. 61
11565746 2001
61
Synchronising ovulation in dairy cows with either two treatments of gonadotropin-releasing hormone and one of prostaglandin, or two treatments of prostaglandin. 61
10736671 2000
62
Comparative analysis of splicing of the complete set of chloroplast group II introns in three higher plant mutants. 61
10481026 1999
63
The bovine CYP17 promoter contains a transcriptional regulatory element cooperatively bound by tale homeodomain proteins. 61
9888529 1998
64
Transvaginal sonography of the fetal brain: detection of abnormal morphology and circulation. 61
9575270 1998
65
Members of the meis1 and pbx homeodomain protein families cooperatively bind a cAMP-responsive sequence (CRS1) from bovine CYP17. 61
9525891 1998
66
Nuclear mutations that block group II RNA splicing in maize chloroplasts reveal several intron classes with distinct requirements for splicing factors. 61
9090875 1997
67
cAMP-dependent transactivation involving the homeodomain protein Pbx1. 61
9028871 1997
68
Transcriptional regulation of the bovine CYP17 gene by cAMP. 61
9029713 1997
69
17alpha-Hydroxylase gene expression in the bovine ovary: mechanisms regulating expression differ from those in adrenal cells. 61
9009234 1996
70
Protein kinase A-dependent transactivation by the E2A-Pbx1 fusion protein. 61
7592695 1995
71
Association between Lyn protein tyrosine kinase (p53/56lyn) and the beta subunit of the granulocyte-macrophage colony-stimulating factor (GM-CSF) receptors in a GM-CSF-dependent human megakaryocytic leukemia cell line (M-07e). 61
7636265 1995
72
Mutually exclusive interactions of two nuclear orphan receptors determine activity of a cyclic adenosine 3',5'-monophosphate-responsive sequence in the bovine CYP17 gene. 61
7776979 1995
73
Transcriptional regulation of the bovine CYP17 gene: two nuclear orphan receptors determine activity of cAMP-responsive sequence 2. 61
7588416 1995
74
A cAMP-regulatory sequence (CRS1) of CYP17 is a cellular target for the homeodomain protein Pbx1. 61
7913464 1994
75
Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. 61
7909651 1994
76
Expression and factor-dependent modulation of the interleukin-3 receptor subunits on human hematopoietic cells. 61
7687890 1993
77
Etiology of eyelid retraction in children: a retrospective study. 61
8501625 1993
78
A novel 3',5'-cyclic adenosine monophosphate-responsive sequence in the bovine CYP17 gene is a target of negative regulation by protein kinase C. 61
1328875 1992

Variations for Craniosynostosis 1

ClinVar genetic disease variations for Craniosynostosis 1:

6 (showing 42, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 (showing 2, show less)
# 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:

(showing 1, show less)
# 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:

(showing 2, show less)
# 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

3 CDC
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11 DGIdb
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68 SNOMED-CT via HPO
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