Amelogenesis Imperfecta, Type Ia; Ai1a

Description

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).

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Type Ia; Ai1a

  • Pain
  • Abnormality of the dentition
  • Hypoplasia of dental enamel
  • Amelogenesis imperfecta
  • Taurodontia
  • Generalized microdontia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Amelogenesis Imperfecta, Type Ia; Ai1a Is also known as amelogenesis imperfecta, hypoplastic type ia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Amelogenesis Imperfecta, Type Ia; Ai1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
EBSeq Epidermolysis Bullosa Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, KLHL24, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
LAMB3 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

LAMB3
Specificity
100 %
Genes
100 %
LAMB3 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

LAMB3
Specificity
100 %
Genes
100 %
EB (Epidermolysis Bullosa) Deletion/Duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DST, TGM5, FERMT1, CHST8, CD151, CDSN, COL17A1, COL7A1, DSP, EXPH5, ITGA3, ITGA6, ITGB4, JUP, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC
Specificity
5 %
Genes
100 %
LAMB3.

By Institute for Human Genetics University Clinic Freiburg (Germany).

LAMB3
Specificity
100 %
Genes
100 %
LAMA3, LAMB3, LAMC2. Detection of the mutations p.Arg42X (c.124C>T), p.Gln243X (c.727C>T), p.Arg635X (c.1903C>T) and p.Glu320X (c.957ins77) of the LAMB3; p.R95X (c.283C>T) of the LAMC2 and p.Arg650X (c.1948A>T) of the LAMA3 by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LAMA3, LAMB3, LAMC2
Specificity
34 %
Genes
100 %

You can get up to 43 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYCYSTIC KIDNEY DISEASE 5; PKD5 OCULOPHARYNGEAL MUSCULAR DYSTROPHY LYNCH SYNDROME I BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL