KLHDC8B gene related symptoms and diseases
All the information presented here about the KLHDC8B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KLHDC8B gene
Symptoms // Phenotype | % Cases |
---|---|
Ataxia | Uncommon - Between 30% and 50% cases |
Paralysis | Uncommon - Between 30% and 50% cases |
Lung adenocarcinoma | Uncommon - Between 30% and 50% cases |
Monoclonal immunoglobulin M proteinemia | Uncommon - Between 30% and 50% cases |
Impaired lymphocyte transformation with phytohemagglutinin | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KLHDC8B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Polyclonal elevation of IgM
- Scoliosis
- Cataract
- Visual impairment
- Hyperlordosis
- Congenital cataract
- Poor appetite
- Anal atresia
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KLHDC8B gene
Here you will find a list of rare diseases related to the KLHDC8B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LYMPHOMA, HODGKIN, CLASSIC; CHL
Alternate names
LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease
Description
Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).
Most common symptoms of LYMPHOMA, HODGKIN, CLASSIC; CHL
- Ataxia
- Neoplasm
- Peripheral neuropathy
- Hepatomegaly
- Fever
More info about LYMPHOMA, HODGKIN, CLASSIC; CHL
CLASSIC HODGKIN LYMPHOMA, NODULAR SCLEROSIS TYPE
ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME
Description
Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
Most common symptoms of ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME
- Scoliosis
- Cataract
- Visual impairment
- Hyperlordosis
- Paralysis
More info about ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME
Search interest in KLHDC8B
Potential gene panels for KLHDC8B gene
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel Panel
By Genetic Services Laboratory University of Chicago Tier 1: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: TP53 POT1 TERF2IP ACD KLHDC8B MLH1 MSH2 MSH6 NPAT PMS2
More info about this panelKLHDC8B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KLHDC8B gene.
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HLX-AS1 CYBB PLEKHG1 CYP3A5 USF1 FLG CCM2