AMBN gene related symptoms and diseases

All the information presented here about the AMBN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AMBN gene

Symptoms // Phenotype % Cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases
Amelogenesis imperfecta Uncommon - Between 30% and 50% cases
Abnormality of dental color Uncommon - Between 30% and 50% cases
Dental enamel pits Uncommon - Between 30% and 50% cases

Rare diseases associated to AMBN gene

Here you will find a list of rare diseases related to the AMBN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMELOGENESIS IMPERFECTA, TYPE IF; AI1F


Alternate names

AMELOGENESIS IMPERFECTA, TYPE IF; AI1F Is also known as amelogenesis imperfecta, hypoplastic type if, ai1f

Description

Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)).

Most common symptoms of AMELOGENESIS IMPERFECTA, TYPE IF; AI1F

  • Hypoplasia of dental enamel
  • Amelogenesis imperfecta
  • Abnormality of dental color
  • Dental enamel pits


More info about AMELOGENESIS IMPERFECTA, TYPE IF; AI1F

SOURCES: OMIM

HYPOPLASTIC AMELOGENESIS IMPERFECTA


Alternate names

HYPOPLASTIC AMELOGENESIS IMPERFECTA Is also known as amelogenesis imperfecta type 1


More info about HYPOPLASTIC AMELOGENESIS IMPERFECTA

SOURCES: ORPHANET


Potential gene panels for AMBN gene

Amelogenesis imperfecta type 1F Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AMBN gene.

More info about this panel

AMBN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AMBN gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ISYNA1 NONO CORIN NPHS1

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