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AI1A
MCID: AML047
MIFTS: 20
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Amelogenesis Imperfecta, Type Ia (AI1A)
Categories:
Genetic diseases, Oral diseases, Rare diseases, Nephrological diseases, Fetal diseases
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MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ia:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Oral diseases Nephrological diseases
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
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, is also known as ai1a. An important gene associated with Amelogenesis Imperfecta, Type Ia is LAMB3 (Laminin Subunit Beta 3). Affiliated tissues include skin, and related phenotypes are taurodontia and amelogenesis imperfecta 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) Disease Ontology : 12 An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:104530Human phenotypes related to Amelogenesis Imperfecta, Type Ia:32
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MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ia:41
Skin
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Genes related to Amelogenesis Imperfecta, Type Ia (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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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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