Amelogenesis Imperfecta, Type Iia1 malady
Categories: Genetic diseases (common), Oral diseases
Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia1:
amelogenesis imperfecta, type iia1:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases (common)
Anatomical: Oral diseases
OMIM:51 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal... (204700) more...
MalaCards based summary: Amelogenesis Imperfecta, Type Iia1, also known as amelogenesis imperfecta, hypomaturation type, iia1, is related to amelogenesis imperfecta, type iii and amelogenesis imperfecta, type iv, and has symptoms including carious teeth and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iia1 is KLK4 (Kallikrein Related Peptidase 4).
Disease Ontology:11 An amelogenesis imperfecta that has material basis in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13.
UniProtKB/Swiss-Prot:69 Amelogenesis imperfecta, hypomaturation type, 2A1: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Diseases related to Amelogenesis Imperfecta, Type Iia1 via text searches within MalaCards or GeneCards Suite gene sharing:
Clinvar genetic disease variations for Amelogenesis Imperfecta, Type Iia1:5
Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iia1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet