KEGG DISEASE: Solitary median maxillary central incisor syndrome

KEGG

DISEASE: Solitary median maxillary central incisor syndrome

Entry

H00652                      Disease

Name

Solitary median maxillary central incisor syndrome

Description

Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, are associated with the disorder.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00652  Solitary median maxillary central incisor syndrome

Pathway

Hedgehog signaling pathway

Axon guidance

Gene

SHH [HSA:6469] [KO:K11988]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, Neri G

Title

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

Journal

Am J Med Genet A 127A:93-5 (2004)
DOI:10.1002/ajmg.a.20685

Reference

Authors

Bolan M, Derech CD, Ribeiro GL, Pereira ET, Almeida IC

Title

Solitary median maxillary central incisor.

Journal

J Dent Child (Chic) 76:82-6 (2009)

LinkDB

» Japanese version

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