1. Mendelian
  2. Rare Diseases
  3. POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP

Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome

Table of contents:

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.

Genes related to Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome

  • FAM111B

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Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Gait disturbance
  • Myopathy
  • Obesity
  • Elevated serum creatine phosphokinase

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome Is also known as poiktmp syndrome, poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FAM111B
Specificity
100 %
Genes
100 %
FAM111B.

By Fulgent Genetics Fulgent Genetics (United States).

FAM111B
Specificity
100 %
Genes
100 %
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

FAM111B
Specificity
100 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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