Craniosynostosis 1

Preferred Label : Craniosynostosis 1;

Symbol : CRS1;

CISMeF acronym : CRS; CRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CRANIOSTENOSIS; CRS;

Description : 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 (Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. - Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q. Craniosynostosis-3 (615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13.;

Inheritance : Autosomal dominant;

Prefixed ID : #123100;

Details

Origin ID

123100;

UMLS CUI

C4551902;

Automatic exact mappings (from CISMeF team)
- Chemotherapy Response Score [NCIt concept]
- Chemotherapy Response Score 1 [NCIt concept]
- Cytokine Release Syndrome [MeSH Descriptor]
- Isolated oxycephaly [ORDO Disease]
- Non-syndromic sagittal craniosynostosis [ORDO Disease]
- circular sulcus of insula [UBERON concept]
- rubella syndrome, congenital [MeSH Descriptor]
- symbol withdrawn CRS [HGNC gene]
DO Cross reference
- craniosynostosis [DO Concept]
False automatic mappings
- Calretinin [NCIt concept]
- Chromium [NCIt concept]
- Complete Remission [NCIt concept]
- Congenital rubella syndrome [ORDO Disease]
- Controlled Release Dosage Form [NCIt concept]
- Costa Rica [NCIt concept]
- Craniosynostosis [ICD-10 Sub-category (who)]
- Craniosynostosis [HPO term]
- Craniosynostosis [MedDRA Preferred Term]
- Craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Creatinine Measurement [NCIt concept]
- Dietary Chromium [NCIt concept]
- Lugano Lymphoma Response Classification Complete Remission by CT [NCIt concept]
- Lugano Lymphoma Response Classification Complete Remission by PET [NCIt concept]
- computed radiography [Radlex concept]
Genes related to phenotype
- Twist family bhlh transcription factor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Craniosynostosis [HPO term]
- Dolichocephaly [HPO term]
- Oxycephaly [HPO term]
- Scaphocephaly [HPO term]
- Turricephaly [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Isolated oxycephaly [ORDO Disease]
- Isolated plagiocephaly [ORDO Disease]
- Non-syndromic bicoronal craniosynostosis [ORDO Disease]
- Non-syndromic sagittal craniosynostosis [ORDO Disease]
See also inter- (CISMeF)
- twist family bHLH transcription factor 1 [ORDO Gene]
- twist family bHLH transcription factor 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniostenosis [HPO term]
- Craniosynostosis [ICD-10 Sub-category (who)]
- Craniosynostosis [MedDRA Preferred Term]
- Craniosynostosis [ORDO Disease]
- Craniosynostosis [NCIt concept]
- Craniosynostosis [ICD-10 Sub-category]
- Craniosynostosis [ACR pathology]
- Craniosynostosis [HPO term]
- Craniosynostosis [PASCAL descriptor]
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
- Craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Craniosynostosis, coronal and lambdoidal [HPO term]
- Non-syndromic craniosynostosis [ORDO Disease]
- craniosynostoses [MeSH Descriptor]
- craniosynostoses [MeSH concept]
- craniosynostosis [Radlex concept]
- craniosynostosis [DO Concept]
- craniosynostosis [Disease (Nov.)]
- craniosynostosis syndrome [SNOMED Notion]
- premature closure of cranial sutures [MedDRA Preferred Term]
Validated automatic mappings to NTBT
- Craniostenosis [HPO term]
- Craniosynostosis [NCIt concept]
- Craniosynostosis [PASCAL descriptor]
- Craniosynostosis [HPO term]
- Craniosynostosis [ORDO Disease]
- Craniosynostosis [ICD-10 Sub-category]
- Craniosynostosis [MedDRA Preferred Term]
- Craniosynostosis [ACR pathology]
- Craniosynostosis [ICD-10 Sub-category (who)]
- Craniosynostosis [ICD-11 Subcategory]
- Craniosynostosis (coronal, sagittal, lambdoid sutures) [HPO term]
- Craniosynostosis syndrome (disorder) [SNOMED CT concept]
- craniosynostoses [MeSH Descriptor]
- craniosynostoses [MeSH concept]
- craniosynostosis [Disease (Nov.)]
- craniosynostosis [Radlex concept]
- craniosynostosis [DO Concept]
- craniosynostosis syndrome [SNOMED Notion]
- premature closure of cranial sutures [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

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