Saethre-chotzen syndrome

Preferred Label : Saethre-chotzen syndrome;

Symbol : SCS;

CISMeF acronym : ACS3; BPES3; SCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acrocephalosyndactyly, type III; Acs III; Chotzen syndrome; Acrocephaly, skull asymmetry, and mild syndactyly; ACS3;

Included titles and symbols : Saethre-chotzen syndrome with eyelid anomalies; Blepharophimosis, epicanthus inversus, and ptosis 3; BPES3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TWIST transcription factor gene (TWIST, 601622.0001);

Neoplasia : Increased risk of breast cancer in women;

Prefixed ID : #101400;

Détails

Origin ID

101400;

UMLS CUI

C0175699;

Automatic exact mappings (from CISMeF team)
- ACSL3 wt Allele [NCIt concept]
- American Cancer Society [NCIt concept]
- American College of Surgeons [NCIt concept]
- Coded String Data Type [NCIt concept]
- Saethre-Chotzen syndrome with eyelid anomalies [MeSH Supplementary Concept]
- Saethre-Chotzen syndrome with eyelid anomalies [MeSH concept]
- Seychelles [NCIt concept]
- South Carolina [NCIt concept]
- Spinal Cord Stimulation [NCIt concept]
- TWIST1 wt Allele [NCIt concept]
- acrocephalosyndactylia [MeSH Descriptor]
- long-chain fatty acid-CoA ligase activity [GO term]
- scleroderma, systemic [MeSH Descriptor]
- succinate-CoA ligase (GDP-forming) activity [GO term]
- twist family bHLH transcription factor 1 [ORDO Gene]
- twist family bHLH transcription factor 1 [HGNC gene]
Currated CISMeF NLP mapping
- Saethre Chotzen syndrome [Disease (Nov.)]
- Saethre-Chotzen syndrome [DO Concept]
- Saethre-Chotzen syndrome [ICD-11 More detail]
- Saethre-Chotzen syndrome [MeSH concept]
- Saethre-Chotzen syndrome [ORDO Disease]
- Saethre-Chotzen syndrome (disorder) [SNOMED CT concept]
- Type III Acrocephalosyndactyly [NCIt concept]
- saethre-chotzen syndrome [SNOMED Notion]
DO Cross reference
- Saethre-Chotzen syndrome [DO Concept]
False automatic mappings
- Subcutaneous Route of Administration [NCIt concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
- Twist family bhlh transcription factor 1 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal nasolacrimal system morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent first metatarsal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid terminal phalanges digits 2 and 3 [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Breast carcinoma [HPO term]
- Buphthalmos [HPO term]
- Cleft of chin [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Convex nasal ridge [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis of coronal, lambdoid, and/or metopic sutures [HPO term]
- Deafness [HPO term]
- Delayed cranial suture closure [HPO term]
- Facial asymmetry [HPO term]
- Flat face [HPO term]
- Flat forehead [HPO term]
- Hallux valgus [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Long nose [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microtia [HPO term]
- Narrow nose [HPO term]
- Narrow palate [HPO term]
- Oxycephaly [HPO term]
- Parietal foramina [HPO term]
- Partial duplication of the distal phalanx of the 2nd finger [HPO term]
- Partial duplication of the distal phalanx of the 3rd finger [HPO term]
- Plagiocephaly [HPO term]
- Plagiocephaly (asymmetry of orbits) [HPO term]
- Prominent crus of helix [HPO term]
- Prominent ears [HPO term]
- Ptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Shallow orbits [HPO term]
- Short stature [HPO term]
- Skull asymmetry [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Thin, long, pointed nose [HPO term]
- Toe syndactyly [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Saethre-Chotzen syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Saethre Chotzen syndrome [Disease (Nov.)]
- Saethre-Chotzen syndrome [ORDO Disease]
- Saethre-Chotzen syndrome [MeSH concept]
- Saethre-Chotzen syndrome [DO Concept]
- Saethre-Chotzen syndrome (disorder) [SNOMED CT concept]
- Type III Acrocephalosyndactyly [NCIt concept]
- saethre-chotzen syndrome [SNOMED Notion]

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