ALX1 gene related symptoms and diseases
All the information presented here about the ALX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALX1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Bifid nose | Very Common - Between 80% and 100% cases |
| Finger clinodactyly | Very Common - Between 80% and 100% cases |
| Sparse eyelashes | Very Common - Between 80% and 100% cases |
| Sparse eyebrow | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALX1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Absent eyebrow
- Facial cleft
- Eyelid coloboma
- Widow's peak
- Wide nasal base
- Preauricular skin tag
- Upper eyelid coloboma
- Caudal appendage
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALX1 gene
Here you will find a list of rare diseases related to the ALX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME
Alternate names
FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia, frontonasal dysplasia type 3
Description
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.
Most common symptoms of FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME
- Intellectual disability
- Hypertelorism
- Cleft palate
- Cataract
- Ptosis
More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME
Search interest in ALX1
Potential gene panels for ALX1 gene
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
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.
ALX1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALX1 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 3 (sequence analysis of ALX1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALX1 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.
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.
ALX1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALX1 gene.
More info about this panel United States.
Frontonasal dysplasia type 3 Panel
Spain.
By Bioarray
This panel specifically test the ALX1 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.
Frontonasal Dysplasia Type 3, Sequencing ALX1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALX1 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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