TGM1 gene related symptoms and diseases
All the information presented here about the TGM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TGM1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ichthyosis | Very Common - Between 80% and 100% cases |
| Everted lower lip vermilion | Common - Between 50% and 80% cases |
| Erythroderma | Common - Between 50% and 80% cases |
| Hyperkeratosis | Common - Between 50% and 80% cases |
| Ectropion | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with TGM1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Lack of skin elasticity
Not very common - Between 30% and 50% cases
- 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 TGM1 gene
Here you will find a list of rare diseases related to the TGM1. 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
More info about LAMELLAR ICHTHYOSIS
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
More info about SELF-IMPROVING COLLODION BABY
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
More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA
BATHING SUIT ICHTHYOSIS
Alternate names
BATHING SUIT ICHTHYOSIS Is also known as bsi
Description
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
Most common symptoms of BATHING SUIT ICHTHYOSIS
- Ichthyosis
More info about BATHING SUIT ICHTHYOSIS
SOURCES: ORPHANET
ACRAL SELF-HEALING COLLODION BABY
Alternate names
ACRAL SELF-HEALING COLLODION BABY Is also known as acral shcb
Description
Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities.
Most common symptoms of ACRAL SELF-HEALING COLLODION BABY
- Ichthyosis
More info about ACRAL SELF-HEALING COLLODION BABY
SOURCES: ORPHANET
Search interest in TGM1
Potential gene panels for TGM1 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
TGM1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TGM1 gene.
More info about this panel Germany.
TGM1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TGM1 gene.
More info about this panel Spain.
TGM1, ALOX12B, ALOXE3, ABCA12. NextGeneDx. Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TGM1 gene.
More info about this panel Spain.
Autosomal Recessive Congenital Ichthyosis (sequence analysis of TGM1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TGM1 gene.
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
Hereditary ichthyosis (NGS panel of 53 genes) Panel
Portugal.
By CGC Genetics Hereditary ichthyosis (NGS panel of 53 genes) that also includes the following genes: SLC27A4 SNAP29 ST14 STIM1 STS TGM1 TGM5 SHOC2 SPINK5 SLURP1
More info about this panel Portugal.
ichthyosis lamellar type 1 ,TGM1 Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the TGM1 gene.
More info about this panel India.
Congenital Ichthyosis and Related Disorders Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Autosomal Recessive Congenital Ichthyosis (ARCI) via TGM1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TGM1 gene.
More info about this panel United States.
Ichthyosis Deletion / Duplication panel Panel
United States.
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 panel United States.
Ichthyosis NGS panel Panel
United States.
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 panel United States.
Ichthyosis Comprehensive panel Panel
United States.
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 panel United States.
Ichthyosiform erythroderma, congenital, nonbullous type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TGM1 gene.
More info about this panel Germany.
Ichthyosis, lamellar type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TGM1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
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 panel Germany.
New Born testing (CentoICU) Panel
Germany.
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 panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
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 panel Germany.
TGM1-Related Congenital Ichthyosis Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the TGM1 gene.
More info about this panel Poland.
Ichthyosis, Autosomal recessive congenital: TGM1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TGM1 gene.
More info about this panel Spain.
ICHTHYOSIS (CONGENITAL) Panel
Spain.
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 panel Spain.
TGM1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TGM1 gene.
More info about this panel United States.
Ichthyosis Panel Panel
Finland.
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 panel Finland.
Congenital lamellar ichthyosis type 1 Panel
Spain.
By Bioarray
This panel specifically test the TGM1 gene.
More info about this panel Spain.
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE: NGS PANEL Panel
Spain.
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 panel Spain.
ICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL Panel
Spain.
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 panel Spain.
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE Panel
Spain.
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 panel Spain.
ICHTHYOSIS, LAMELLAR , TYPE 1 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TGM1 gene.
More info about this panel Spain.
ICHTHYOSIFORM ERYTHRODERMA, NON-BULLOUS CONGENITAL SANGER PANEL Panel
Spain.
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 panel Spain.
Autosomal Recessive Congenital Ichthyosis, Sequencing TGM1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TGM1 gene.
More info about this panel Spain.
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
Spain.
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 panel Spain.
Lamellar Icthyosis : TGM1 gene sequencing Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the TGM1 gene.
More info about this panel India.
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