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.

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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

SOURCES: OMIM ORPHANET


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

FAM111B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FAM111B gene.

More info about this panel

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


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