POMP gene related symptoms and diseases
All the information presented here about the POMP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POMP gene
Symptoms // Phenotype | % Cases |
---|---|
Hyperkeratosis | Uncommon - Between 30% and 50% cases |
Bifid uvula | Uncommon - Between 30% and 50% cases |
Thrombocytopenia | Uncommon - Between 30% and 50% cases |
Clinodactyly | Uncommon - Between 30% and 50% cases |
Pes planus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with POMP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Scarring
- Autoimmunity
- Everted lower lip vermilion
- Inflammatory abnormality of the skin
- Edema
- Subcutaneous nodule
- Vasculitis
- Combined immunodeficiency
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POMP gene
Here you will find a list of rare diseases related to the POMP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KERATOSIS LINEARIS-ICHTHYOSIS CONGENITA-SCLEROSING KERATODERMA SYNDROME
Alternate names
KERATOSIS LINEARIS-ICHTHYOSIS CONGENITA-SCLEROSING KERATODERMA SYNDROME Is also known as klick syndrome
Description
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.
Most common symptoms of KERATOSIS LINEARIS-ICHTHYOSIS CONGENITA-SCLEROSING KERATODERMA SYNDROME
- Hyperkeratosis
- Nail dystrophy
- Ichthyosis
- Palmoplantar keratoderma
- Epidermal acanthosis
More info about KERATOSIS LINEARIS-ICHTHYOSIS CONGENITA-SCLEROSING KERATODERMA SYNDROME
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2
Description
Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).
Most common symptoms of PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2
- Seizures
- Global developmental delay
- Short stature
- Brachydactyly
- Fever
More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2
SOURCES: OMIM
Search interest in POMP
Potential gene panels for POMP gene
POMP Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the POMP gene.
More info about this panelHereditary ichthyosis (NGS panel of 53 genes) Panel
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 panelHereditary ichthyosis (NGS panel of 53 genes) Panel
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 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 panelKLICK Syndrome via POMP Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the POMP gene.
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 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 panelPOMP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POMP 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
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