AI4
MCID: AML020
MIFTS: 35
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Amelogenesis Imperfecta, Type Iv (AI4)
Categories:
Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iv:
Characteristics:Orphanet epidemiological data:59
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Inheritance: Autosomal dominant; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Oral diseases Nephrological diseases
ICD10:
33
34
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KEGG
:
37
![]() 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. |
Human phenotypes related to Amelogenesis Imperfecta, Type Iv:32
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MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Iv:41
Bone,
Salivary Gland
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Articles related to Amelogenesis Imperfecta, Type Iv:
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ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:6
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Search
GEO
for disease gene expression data for Amelogenesis Imperfecta, Type Iv.
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Cellular components related to Amelogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:
Biological processes related to Amelogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:
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