AAGAB gene related symptoms and diseases

All the information presented here about the AAGAB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC.

Top 5 symptoms associated to AAGAB gene



Symptoms // Phenotype % Cases
Hodgkin lymphoma Very Common - Between 80% and 100% cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Scaling skin Uncommon - Between 30% and 50% cases
Neoplasm of the pancreas Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with AAGAB gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Colon cancer Renal cell carcinoma Breast carcinoma Abnormality of the nail Late onset Orthokeratosis Hypergranulosis Parakeratosis

And 14 more phenotypes.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to AAGAB gene

Here you will find a list of rare diseases related to the AAGAB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A

Alternate names

PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A Is also known as palmoplantar keratoderma, punctate type i;ppkp1, kppp1, keratodermia palmoplantaris papulosa, buschke-fischer-brauer type, keratosis palmoplantaris papulosa

Description

Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. There have been reports of an association between PPKP and the development of early- and late-onset malignancies, including squamous cell carcinoma (summary by Giehl et al., 2012).Another form of PPKP type I has been mapped to chromosome 8q24 (PPKP1B ).Other forms of punctate palmoplantar keratoderma include a porokeratotic type (PPKP2 ) and focal acrohyperkeratosis (PPKP3 ).For a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (OMIM ).

Most common symptoms of PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A

  • Autosomal dominant inheritance
  • Pica
  • Neoplasm
  • Pain
  • Tics


More info about PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A

SOURCES: DOID UMLS SCTID MONDO OMIM

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

Alternate names

PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1 Is also known as buschke-fischer-brauer syndrome; keratodermia palmoplantaris papulosa, buschke-fischer-brauer type; ppkp1

Description

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

Most common symptoms of PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

  • Palmoplantar keratoderma
  • Abnormality of the nail
  • Breast carcinoma
  • Renal cell carcinoma
  • Colon cancer


More info about PUNCTATE PALMOPLANTAR KERATODERMA TYPE 1

SOURCES: ORPHANET

Potential gene panels for AAGAB gene

AAGAB Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the AAGAB gene.

More info about this panel

Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the AAGAB gene.

More info about this panel

Punctate palmoplantar keratoderma type I (sequence analysis of AAGAB gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the AAGAB gene.

More info about this panel

Keratoderma, palmoplantar, punctate type 1A Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the AAGAB gene.

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

By CeGaT GmbH in Germany. Ichthyoses and related disorders of cornification Panel that also includes the following genes: ABCA12 ELOVL4 DSP TAT ABHD5 ALDH3A2 PHYH ALMS1 GJB2 GJB6

More info about this panel

AAGAB Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the AAGAB gene.

More info about this panel

Pachyonychia Congenita Panel Panel

By Blueprint Genetics in Finland. Pachyonychia Congenita Panel that also includes the following genes: KRT16 KRT6A TRPV3 AAGAB KRT6C KRT17 KRT6B

More info about this panel

Palmoplantar Keratoderma Panel Panel

By Blueprint Genetics in Finland. Palmoplantar Keratoderma Panel that also includes the following genes: DSP GJB2 GJB6 MBTPS2 CTSC JUP PKP1 KRT14 ENPP1 KRT9

More info about this panel


Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other genes that you may find interesting

GAST REEP1 NOS3 GTF2H5