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.
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
Search interest in KANK2
Potential gene panels for KANK2 gene
KANK2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KANK2 gene.
More info about this panelKANK2 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KANK2 gene.
More info about this panelNephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
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 panelNephrotic Syndrome or Palmoplantar Keratoderma and Woolly Hair via KANK2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KANK2 gene.
More info about this panelNephrotic syndrome and related disorders Comprehensive panel Panel
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 panelNephrotic syndrome and related disorders NGS panel Panel
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 panelNephrotic syndrome and related disorders Deletion / Duplication panel Panel
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 panelHereditary kidney disorders - different panels Panel
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
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