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.
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 ).
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
Search interest in ALX3
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 United States.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Frontonasal dysplasia type 1 Panel
Spain.
By Bioarray
This panel specifically test the ALX3 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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