Craniosynostosis 3

Preferred Label : Craniosynostosis 3;

Symbol : CRS3;

CISMeF acronym : CRS3;

Type : Phenotype, molecular basis known;

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 TCF12 gene has been found to several forms of craniosynostosis including coronal, sagittal, and multisuture. For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transcription factor-12 gene (TCF12, 600480.0001);

Prefixed ID : #615314;

Details

Origin ID

615314;

UMLS CUI

C3715051;

Automatic exact mappings (from CISMeF team)
- cysteine rich secretory protein 3 [HGNC gene]
DO Cross reference
- craniosynostosis [DO Concept]
False automatic mappings
- Chemotherapy Response Score 3 [NCIt concept]
Genes related to phenotype
- Transcription factor 12 [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicoronal synostosis [HPO term]
- Brachydactyly [HPO term]
- Dental malocclusion [HPO term]
- Hallux valgus [HPO term]
- Left unicoronal synostosis [HPO term]
- Low anterior hairline [HPO term]
- Mild global developmental delay [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Ptosis [HPO term]
- Right unicoronal synostosis [HPO term]
- Sagittal craniosynostosis [HPO term]
- Single transverse palmar crease [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Isolated plagiocephaly [ORDO Disease]
- Non-syndromic bicoronal craniosynostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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