ALOX12B gene related symptoms and diseases
All the information presented here about the ALOX12B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALOX12B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ichthyosis | Very Common - Between 80% and 100% cases |
| Everted lower lip vermilion | Very Common - Between 80% and 100% cases |
| Erythroderma | Very Common - Between 80% and 100% cases |
| Hyperkeratosis | Very Common - Between 80% and 100% cases |
| Ectropion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALOX12B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lack of skin elasticity
- Flexion contracture
- Alopecia
- Erythema
- Scarring
- Nail dystrophy
- Short stature
- Palmoplantar keratoderma
And 50 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALOX12B gene
Here you will find a list of rare diseases related to the ALOX12B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LAMELLAR ICHTHYOSIS
Alternate names
LAMELLAR ICHTHYOSIS Is also known as congenital lamellar ichthyosis, li, classic lamellar ichthyosis
Description
Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.
Most common symptoms of LAMELLAR ICHTHYOSIS
- Short stature
- Cognitive impairment
- Abnormality of the dentition
- Renal insufficiency
- Recurrent respiratory infections
SOURCES: ORPHANET
SELF-IMPROVING COLLODION BABY
Alternate names
SELF-IMPROVING COLLODION BABY Is also known as shcb, self-improving congenital ichthyosis, self-healing collodion baby, ichthyosis congenita, desquamation of newborn, sici, collodion fetus, icr2, ichthyosis congenita ii, ichthyosis, lamellar, 1, formerly, li1, formerly, lamellar exfoliation of newborn, collodion
Description
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.
Most common symptoms of SELF-IMPROVING COLLODION BABY
- Failure to thrive
- Flexion contracture
- Visual loss
- Alopecia
- Hyperhidrosis
CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA
Alternate names
CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly, erythrodermic ichthyosis, non-bullous congenital ichthyosiform erythroderma, ncie1, formerly, cie, collodion baby, self-healing, ichthyosiform erythroderma, brocq congenital, nonbullous form, forme
Description
Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
Most common symptoms of CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA
- Intellectual disability
- Short stature
- Hearing impairment
- Growth delay
- Failure to thrive
Search interest in ALOX12B
Potential gene panels for ALOX12B gene
ALOX12B Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ALOX12B gene.
More info about this panelALOX12B. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALOX12B gene.
More info about this panelTGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS that also includes the following genes: ALOXE3 ABCA12 ALOX12B
More info about this panelCongenital ichthyosis type 2, AR (sequence analysis of ALOX12B gene) Panel
By CGC Genetics
This panel specifically test the ALOX12B gene.
More info about this panelAutosomal Recessive Congenital Ichthyosis (ARCI) via ALOX12B Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ALOX12B gene.
More info about this panelCongenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SLC27A4 ST14 TGM1 ALOXE3 ABCA12 CLDN1 POMP PNPLA1 ABHD5 LIPN
More info about this panelIchthyosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelIchthyosis NGS panel Panel
By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelIchthyosis Comprehensive panel Panel
By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panelIchthyosiform erythroderma, congenital, nonbullous type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ALOX12B gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelIchthyoses and related disorders of cornification Panel Panel
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panelICHTHYOSIS (CONGENITAL) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ICHTHYOSIS (CONGENITAL) that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 CYP4F22 NIPAL4 ALOX12B KRT2
More info about this panelALOX12B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALOX12B gene.
More info about this panelIchthyosis Panel Panel
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panelCongenital lamellar ichthyosis type 2 Panel
By Bioarray
This panel specifically test the ALOX12B gene.
More info about this panelICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 LIPN CERS3 CYP4F22 NIPAL4 ALOX12B
More info about this panelICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL Panel
By Laboratorio de Genetica Clinica SL ICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL that also includes the following genes: TGM1 ALOXE3 NIPAL4 ALOX12B
More info about this panelICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE Panel
By Laboratorio de Genetica Clinica SL ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE that also includes the following genes: TGM1 ALOXE3 ABCA12 PNPLA1 LIPN CERS3 CYP4F22 NIPAL4 ALOX12B
More info about this panelICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL SANGER PANEL Panel
By Laboratorio de Genetica Clinica SL ICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL SANGER PANEL that also includes the following genes: TGM1 ALOXE3 NIPAL4 ALOX12B
More info about this panelAutosomal Recessive Congenital Ichthyosis Type 2 , Sequencing ALOX12B Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ALOX12B gene.
More info about this panelCongenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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