AI1A
MCID: AML047
MIFTS: 33
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Amelogenesis Imperfecta, Type Ia (AI1A)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ia:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
teeth may undergo post-eruptive changes HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Oral diseases Nephrological diseases
ICD10:
32
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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 ovarian gonadoblastoma and gender identity disorder. An important gene associated with Amelogenesis Imperfecta, Type Ia is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Pathways in cancer and Ovarian steroidogenesis. 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® : 57 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) (Updated 05-Mar-2021) |
Human phenotypes related to Amelogenesis Imperfecta, Type Ia:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:104530 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ia:46
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Articles related to Amelogenesis Imperfecta, Type Ia:(show all 11)
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ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ia:6
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Search
GEO
for disease gene expression data for Amelogenesis Imperfecta, Type Ia.
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Biological processes related to Amelogenesis Imperfecta, Type Ia according to GeneCards Suite gene sharing:
Molecular functions related to Amelogenesis Imperfecta, Type Ia according to GeneCards Suite gene sharing:
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