Amelogenesis Imperfecta, Type Iv (AI4)

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Disease Ontology 12 DOID:0110053 OMIM 57 104510 PS104500 KEGG 37 H00618 MeSH 44 D000567 ICD10 33 K00.5

ICD10 via Orphanet 34 K00.5 UMLS via Orphanet 73 C0399373 C1863012 Orphanet 59 ORPHA100034 MedGen 42 C1863012 UMLS 72 C1863012

KEGG : ³⁷ Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait.

MalaCards based summary : Amelogenesis Imperfecta, Type Iv, also known as amelogenesis imperfecta type 4, is related to trichodentoosseous syndrome and amelogenesis imperfecta, type iiia. An important gene associated with Amelogenesis Imperfecta, Type Iv is DLX3 (Distal-Less Homeobox 3), and among its related pathways/superpathways is Cardiac muscle contraction. Affiliated tissues include bone and salivary gland, and related phenotypes are taurodontia and amelogenesis imperfecta

Disease Ontology : ¹² An amelogenesis imperfecta which can has material basis in mutation in the DLX3 gene.

UniProtKB/Swiss-Prot : ⁷⁴ Amelogenesis imperfecta 4: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.

More information from OMIM: 104510 PS104500

Clinical features from OMIM:

104510

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Iv

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iv.