ALX3 gene related symptoms and diseases

All the information presented here about the ALX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALX3 gene

Symptoms // Phenotype % Cases
Scoliosis Very Common - Between 80% and 100% cases
Hypoplasia of the maxilla Very Common - Between 80% and 100% cases
Lipoma of corpus callosum Very Common - Between 80% and 100% cases
Cranium bifidum occultum Very Common - Between 80% and 100% cases
Hypoplastic frontal sinuses Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ALX3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypertelorism
  • Diabetes insipidus
  • Preauricular skin tag
  • Encephalocele
  • Widow's peak
  • Cleft palate
  • Epicanthus
  • Strabismus

And 110 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ALX3 gene

Here you will find a list of rare diseases related to the ALX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FRONTORHINY


Alternate names

FRONTORHINY Is also known as frontonasal dysplasia type 1, isolated median cleft face syndrome, alx3-related frontonasal dysplasia

Description

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

Most common symptoms of FRONTORHINY

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


More info about FRONTORHINY

SOURCES: ORPHANET

FRONTONASAL DYSPLASIA 1; FND1


Alternate names

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation, fnm, frontonasal dysplasia, median facial cleft syndrome, frontorhiny, fnd

Description

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

Most common symptoms of FRONTONASAL DYSPLASIA 1; FND1

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


More info about FRONTONASAL DYSPLASIA 1; FND1

SOURCES: OMIM


Potential gene panels for ALX3 gene

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Facial Dysostosis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Facial Dysostosis Sequencing Panel that also includes the following genes: SF3B4 TCOF1 ALX1 EVC2 POLR1C POLR1D CHD7 DHODH ZSWIM6 EFTUD2

More info about this panel

ALX3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALX3 gene.

More info about this panel

ALX3. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALX3 gene.

More info about this panel

Craniofacial Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Craniofacial Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1

More info about this panel

Frontonasal dysplasia 1 (sequence analysis of ALX3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALX3 gene.

More info about this panel

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel

Portugal.

By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2

More info about this panel

Frontonasal Dysplasia (Frontorhiny) via ALX3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ALX3 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4

More info about this panel

Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4

More info about this panel

Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

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

Facial Dysostosis and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

Frontonasal dysplasia type 1 Panel

Spain.

By Bioarray

This panel specifically test the ALX3 gene.

More info about this panel

FRONTONASAL DYSPLASIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FRONTONASAL DYSPLASIA that also includes the following genes: ALX1 ALX3 ALX4

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

Frontonasal Dysplasia Type 1, Sequencing ALX3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALX3 gene.

More info about this panel

Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Frontonasal Dysplasia , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: ALX1 EFNB1 ALX3 ALX4

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 ENPEP

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more