Amelogenesis Imperfecta, Type Ia (AI1A)

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Disease Ontology 12 DOID:0110054 OMIM 56 104530 OMIM Phenotypic Series 56 PS104500 MeSH 43 D000567

ICD10 32 K00.5 MedGen 41 C0399367 C4011403 SNOMED-CT via HPO 68 263681008 51744007 78494001 UMLS 71 C4011403

UniProtKB/Swiss-Prot : ⁷³ Amelogenesis imperfecta 1A: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration.

MalaCards based summary : Amelogenesis Imperfecta, Type Ia, also known as ai1a, is related to nephrolithiasis/osteoporosis, hypophosphatemic, 2 and proximal spinal muscular atrophy. An important gene associated with Amelogenesis Imperfecta, Type Ia is LAMB3 (Laminin Subunit Beta 3). Affiliated tissues include salivary gland and skin, and related phenotypes are taurodontia and amelogenesis imperfecta

Disease Ontology : ¹² An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.

OMIM : ⁵⁶ Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989). (104530)

Clinical features from OMIM:

104530

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

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