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

SOURCES: MESH OMIM ORPHANET

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


Potential gene panels for POMP gene

POMP Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the POMP gene.

More info about this panel
Germany.

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.

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.

KLICK Syndrome via POMP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the POMP 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.

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.

POMP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the POMP gene.

More info about this panel
United States.

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.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NDUFS4 RGR HCFC1 CYP3A5 SLC4A1 TAB2 SLC26A2