FAM111B gene related symptoms and diseases
All the information presented here about the FAM111B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FAM111B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Scoliosis | Very Common - Between 80% and 100% cases |
| Nail dysplasia | Very Common - Between 80% and 100% cases |
| Erysipelas | Very Common - Between 80% and 100% cases |
| Thin eyebrow | Very Common - Between 80% and 100% cases |
| Poikiloderma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FAM111B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Heat intolerance
- Achilles tendon contracture
- Raynaud phenomenon
- Scleroderma
- Truncal obesity
- Pulmonary fibrosis
- Clubbing
- Hypohidrosis
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FAM111B gene
Here you will find a list of rare diseases related to the FAM111B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME
Alternate names
HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome, poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement
Description
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
Most common symptoms of HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME
- Scoliosis
- Muscle weakness
- Cataract
- Flexion contracture
- Hepatomegaly
More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME
Search interest in FAM111B
Potential gene panels for FAM111B gene
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FAM111B gene.
More info about this panel United States.
FAM111B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FAM111B gene.
More info about this panel United States.
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FAM111B gene.
More info about this panel Canada.
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