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.
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.
COWDEN SYNDROME
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
Description
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
HEREDITARY BREAST CANCER
Alternate names
HEREDITARY BREAST CANCER Is also known as familial breast cancer, familial breast carcinoma, hereditary breast carcinoma
More info about HEREDITARY BREAST CANCER
SOURCES: ORPHANET
COWDEN SYNDROME 4; CWS4
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
SOURCES: OMIM
Search interest in KLLN
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 United States.
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 United States.
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 United States.
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