Details of Disease

General Information of Disease (ID: DISEWCUH)

• Disease Name: Solitary median maxillary central incisor syndrome
• Synonyms: incisors fused; SMMCI syndrome; single central maxillary incisor; solitary MEDIAN maxillary central incisor; Fused incisors; incisors, Fused; single median maxillary central incisor; solitary median maxillary central incisor syndrome; single upper central incisor; SMMCI
• Definition: A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.
• Disease Hierarchy:
  DISV127W: Microform holoprosencephaly
  DISSDSO9: Holoprosencephaly 3
  DISEWCUH: Solitary median maxillary central incisor syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007819
  MESH ID: C537342
  UMLS CUI: C1840235
  OMIM ID: 147250
  MedGen ID: 326686
  HPO ID: HP:0006315
  SNOMED CT ID: 707609006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SHH	TTIENCJ	Strong	Genetic Variation	[1]
SHH	TTIENCJ	Definitive	Autosomal dominant	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIX3	OTP5E3VU	Strong	Genetic Variation	[3]
SHH	OTOG2BXF	Definitive	Autosomal dominant	[2]

References

• [1] Single median maxillary central incisor: new data and mutation review.Birth Defects Res A Clin Mol Teratol. 2007 Aug;79(8):573-80. doi: 10.1002/bdra.20380.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [3] SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.Am J Med Genet. 2001 Jul 22;102(1):1-10. doi: 10.1002/1096-8628(20010722)102:1<1::aid-ajmg1336>3.0.co;2-u.