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.

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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

SOURCES: OMIM ORPHANET

CLASSIC HODGKIN LYMPHOMA, NODULAR SCLEROSIS TYPE



More info about CLASSIC HODGKIN LYMPHOMA, NODULAR SCLEROSIS TYPE

SOURCES: ORPHANET

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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for KLHDC8B gene

Tier 1: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

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 panel

KLHDC8B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLHDC8B gene.

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

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 panel


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