KLLN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to KLLN gene

Symptoms // Phenotype % Cases
Hamartoma Common - Between 50% and 80% cases
Trichilemmoma Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Papilledema Uncommon - Between 30% and 50% cases
Prolactin excess Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Skin tags
  • Megalencephaly
  • Meningioma
  • Hydrocele testis
  • Arteriovenous malformation
  • Lipoma
  • Furrowed tongue
  • Abnormality of the uterus

And 140 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to KLLN gene

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


Alternate names

COWDEN SYNDROME Is also known as bzs, cowden disease, bbrs, macrocephaly, multiple lipomas, and hemangiomata, pten hamartoma tumor syndrome with granular cell tumor, bannayan-zonana syndrome, macrocephaly, pseudopapilledema, and multiple hemangiomata, cs, cd, mham, pten hamartoma tumor syndrome, ri


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

Most common symptoms of COWDEN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia

More info about COWDEN SYNDROME



Alternate names

HEREDITARY BREAST CANCER Is also known as familial breast cancer, familial breast carcinoma, hereditary breast carcinoma




Most common symptoms of COWDEN SYNDROME 4; CWS4

  • Hamartoma
  • Renal neoplasm
  • Abnormality of the gingiva
  • Trichilemmoma
  • Abnormality of buccal mucosa

More info about COWDEN SYNDROME 4; CWS4


Potential gene panels for KLLN gene

KLLN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLLN gene.

More info about this panel

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

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