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GENATLAS PHENOTYPE

last update : 14-01-2014

Symbol	FPTCM
Location	11q12.1
Name	hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
Corresponding gene	FAM111B
Main clinical features	mottled pigmentation, telangiectasia, and epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas tendon contractures especially involved the ankles and feet and caused gait disturbance, and progressive dyspnea and restrictive impairment of lung function linked to pulmonary fibrosis
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
	neurology
Type	disease

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