PAX1 gene related symptoms and diseases

All the information presented here about the PAX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PAX1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormality of the skeletal system Very Common - Between 80% and 100% cases
Down-sloping shoulders Very Common - Between 80% and 100% cases
Lacrimal duct stenosis Very Common - Between 80% and 100% cases
Scapular winging Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PAX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Preauricular pit
  • Hearing impairment
  • Low-set ears
  • Not very common - Between 30% and 50% cases

  • Cupped ear
  • Clinodactyly
  • Alacrima
  • Long neck
  • Unilateral facial palsy

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PAX1 gene

Here you will find a list of rare diseases related to the PAX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OTOFACIOCERVICAL SYNDROME


Alternate names

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome, ofc1, ofc syndrome, ofc

Description

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

Most common symptoms of OTOFACIOCERVICAL SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


More info about OTOFACIOCERVICAL SYNDROME

SOURCES: ORPHANET OMIM

OTOFACIOCERVICAL SYNDROME 2; OTFCS2


Alternate names

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Description

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

Most common symptoms of OTOFACIOCERVICAL SYNDROME 2; OTFCS2

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

SOURCES: OMIM


Potential gene panels for PAX1 gene

Klippel-Feil Syndrome Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Klippel-Feil Syndrome that also includes the following genes: GDF3 GDF6 MEOX1 PAX1

More info about this panel

PAX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PAX1 gene.

More info about this panel

KLIPPEL-FEIL SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME that also includes the following genes: GDF3 GDF6 MEOX1 PAX1

More info about this panel

KLIPPEL-FEIL SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME NGS PANEL that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1 PAX1

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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