AMTN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to AMTN gene

Symptoms // Phenotype % Cases
Amelogenesis imperfecta Very Common - Between 80% and 100% cases
Dental malocclusion Uncommon - Between 30% and 50% cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases
Open bite Uncommon - Between 30% and 50% cases
Gingivitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AMTN gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Periodontitis
  • Anterior open bite
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Rare diseases associated to AMTN gene

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


AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B


Description

Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places (Smith et al., 2016).

Most common symptoms of AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B

  • Amelogenesis imperfecta


More info about AMELOGENESIS IMPERFECTA, TYPE IIIB; AI3B

SOURCES: OMIM

HYPOCALCIFIED AMELOGENESIS IMPERFECTA


Alternate names

HYPOCALCIFIED AMELOGENESIS IMPERFECTA Is also known as amelogenesis imperfecta, hypocalcification type, autosomal dominant, ai3, amelogenesis imperfecta type 3, amelogenesis imperfecta, type iii, adhcai, amelogenesis imperfecta, hypomineralization type

Description

Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975).

Most common symptoms of HYPOCALCIFIED AMELOGENESIS IMPERFECTA

  • Dental malocclusion
  • Hypoplasia of dental enamel
  • Open bite
  • Amelogenesis imperfecta
  • Gingivitis


More info about HYPOCALCIFIED AMELOGENESIS IMPERFECTA

SOURCES: ORPHANET OMIM


Potential gene panels for AMTN gene

Amelotin deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AMTN gene.

More info about this panel

AMTN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AMTN gene.

More info about this panel


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