ITGB6 gene related symptoms and diseases

All the information presented here about the ITGB6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ITGB6 gene

Symptoms // Phenotype % Cases
Dental malocclusion Uncommon - Between 30% and 50% cases
Anterior open bite Uncommon - Between 30% and 50% cases
Hypoplasia of dental enamel Uncommon - Between 30% and 50% cases
Amelogenesis imperfecta Uncommon - Between 30% and 50% cases
Open bite Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ITGB6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Photophobia
  • EEG abnormality
  • Ichthyosis
  • Falls
  • Sparse scalp hair
  • Split hand
  • Hypergonadotropic hypogonadism
  • Intellectual disability, progressive

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ITGB6 gene

Here you will find a list of rare diseases related to the ITGB6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMELOGENESIS IMPERFECTA, TYPE IH; AI1H


Description

Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014).

Most common symptoms of AMELOGENESIS IMPERFECTA, TYPE IH; AI1H

  • Dental malocclusion
  • Hypoplasia of dental enamel
  • Open bite
  • Amelogenesis imperfecta
  • Anterior open bite


More info about AMELOGENESIS IMPERFECTA, TYPE IH; AI1H

SOURCES: OMIM

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alternate names

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome, amr syndrome, apmr

Description

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

Most common symptoms of ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

SOURCES: OMIM ORPHANET

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

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 ITGB6 gene

Amelogenesis Imperfecta Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amelogenesis Imperfecta Sequencing Panel with CNV Detection that also includes the following genes: CNNM4 SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 ROGDI ENAM

More info about this panel

Amelogenesis imperfecta and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Deletion/ Duplication panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Comprehensive panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders NGS panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68

More info about this panel

Amelogenesis imperfecta type 1H Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ITGB6 gene.

More info about this panel

ITGB6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITGB6 gene.

More info about this panel

Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel that also includes the following genes: SLC24A4 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68 AMELX

More info about this panel


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