Type III Amelogenesis Imperfecta

Also Known As:

Amelogenesis Imperfecta, Type III; ADHCAI; Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant; Amelogenesis Imperfecta, Hypomineralization Type

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Stomatognathic Diseases: 705
- Tooth Diseases: 33
  - Tooth Abnormalities: 33
    - Developmental Defects of Enamel: 166
      - Amelogenesis Imperfecta: 276
        Type III Amelogenesis Imperfecta: 7
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 33
    - Developmental Defects of Enamel: 166
      - Amelogenesis Imperfecta: 276
        Type III Amelogenesis Imperfecta: 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 33
      - Developmental Defects of Enamel: 166
        Amelogenesis Imperfecta: 276
        Type III Amelogenesis Imperfecta: 7

Related Diseases

1.	Amelogenesis Imperfecta

Experts

1.	Simmer, J P: 3 articles (01/2021 - 11/2009)
2.	Hu, J C-C: 2 articles (03/2011 - 11/2009)
3.	Kim, J-W: 2 articles (03/2011 - 11/2009)
4.	Chen, Jianfan: 1 article (05/2021)
5.	Gan, Zhongzhi: 1 article (05/2021)
6.	Guo, Yingying: 1 article (05/2021)
7.	He, Fei: 1 article (05/2021)
8.	Li, Meiyi: 1 article (05/2021)
9.	Lu, Ting: 1 article (05/2021)
10.	Xiong, Fu: 1 article (05/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type III Amelogenesis Imperfecta:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Results of this study significantly extended the phenotypic and genotypic spectrums of FAM83H-associated ADHCAI and suggested a role for FAM83H in endoplasmic reticulum-to-Golgi vesicle trafficking and protein secretion (dbGaP phs001491.v1.p1)." 05/01/2021 - "We verified the FAM83H p.Lys639* protein as a gain-of-function variant causing ADHCAI. " 03/01/2011 - "FAM83H mutations cause ADHCAI and alter intracellular protein localization." 01/01/2019 - "We generated and characterized a mouse model (Fam83hTr/Tr ) expressing a truncated FAM83H protein (amino acids 1-296), which recapitulated the ADHCAI-causing human FAM83H p.Tyr297* mutation. " 04/01/2009 - "Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized ADHCAI phenotype, while those having mutations capable of producing a protein of at least 694 amino acids had a unique and previously unreported phenotype affecting primarily the cervical enamel. "
2.	Nonsense Codon (Nonsense Mutation)IBA 05/01/2021 - "ADHCAI is mainly caused by nonsense mutations in a gene called family with sequence similarity 83 member H (FAM83H). " 11/01/2011 - "We have screened FAM83H in another five unrelated Danish patients with a phenotype of ADHCAI similar to that in the five-generation family, and identified a de novo FAM83H nonsense mutation, p.Q452X in one of these patients. " 11/01/2009 - "In addition, we identified FAM83H nonsense mutations in Hispanic (C1330C>T; p.Q444X) and Caucasian (c.1192C>T; p.Q398X) families with ADHCAI. "
3.	Amino Acids FDA Link 01/01/2019 - "We generated and characterized a mouse model (Fam83hTr/Tr ) expressing a truncated FAM83H protein (amino acids 1-296), which recapitulated the ADHCAI-causing human FAM83H p.Tyr297* mutation. " 04/01/2009 - "Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized ADHCAI phenotype, while those having mutations capable of producing a protein of at least 694 amino acids had a unique and previously unreported phenotype affecting primarily the cervical enamel. "
4.	MineralsIBA 04/01/2009 - "FAM83H gene mutations are associated with autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically characterized by enamel having normal thickness and a markedly decreased mineral content. "