KANK2 gene related symptoms and diseases

All the information presented here about the KANK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KANK2 gene

Symptoms // Phenotype % Cases
Proteinuria Uncommon - Between 30% and 50% cases
Hematuria Uncommon - Between 30% and 50% cases
Nephrotic syndrome Uncommon - Between 30% and 50% cases
Minimal change glomerulonephritis Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KANK2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Palmoplantar keratoderma
  • Syncope
  • Epidermal acanthosis
  • Sparse scalp hair
  • Sparse and thin eyebrow
  • Sparse eyelashes
  • Sparse body hair
  • Woolly hair

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to KANK2 gene

Here you will find a list of rare diseases related to the KANK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEPHROTIC SYNDROME, TYPE 16; NPHS16


Most common symptoms of NEPHROTIC SYNDROME, TYPE 16; NPHS16

  • Proteinuria
  • Hematuria
  • Nephrotic syndrome
  • Minimal change glomerulonephritis


More info about NEPHROTIC SYNDROME, TYPE 16; NPHS16

SOURCES: OMIM

WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME


Alternate names

WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME Is also known as keratoderma with woolly hair type iv, kwwh type iv, woolly hair-palmoplantar hyperkeratosis syndrome

Description

Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.

Most common symptoms of WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

  • Dyspnea
  • Palmoplantar keratoderma
  • Syncope
  • Epidermal acanthosis
  • Sparse scalp hair


More info about WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for KANK2 gene

KANK2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KANK2 gene.

More info about this panel

KANK2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KANK2 gene.

More info about this panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2

More info about this panel

Nephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via KANK2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KANK2 gene.

More info about this panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RNF43 ITPR1 PLCZ1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more