HOXA2 gene related symptoms and diseases

All the information presented here about the HOXA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HOXA2 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Cleft palate Very Common - Between 80% and 100% cases
Microtia Very Common - Between 80% and 100% cases
Small for gestational age Uncommon - Between 30% and 50% cases
Holoprosencephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HOXA2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Maternal diabetes
  • Anotia
  • Abnormality of the pinna
  • Abnormality of the outer ear
  • Overfolded helix
  • Mixed hearing impairment
  • Facial paralysis
  • Profound hearing impairment

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HOXA2 gene

Here you will find a list of rare diseases related to the HOXA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROTIA

Description

Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal.

Most common symptoms of MICROTIA

  • Hearing impairment
  • Cleft palate
  • Microtia
  • Small for gestational age
  • Holoprosencephaly


More info about MICROTIA

SOURCES: ORPHANET OMIM

BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME

Description

This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.

Most common symptoms of BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME

  • Hearing impairment
  • Cleft palate
  • Abnormality of the pinna
  • Microtia
  • Abnormality of the outer ear


More info about BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for HOXA2 gene

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel
Spain.

HOXA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HOXA2 gene.

More info about this panel
United States.

Microtia , Sequencing HOXA2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HOXA2 gene.

More info about this panel
Spain.

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