Disease #04052

Official abbreviation POIKTMP
Name poikiloderma, hereditary fibrosing, tendon contractures, myopathy, pulmonary fibrosis (POIKTMP)
OMIM ID 615704
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FAM111B
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Individuals

1 entry on 1 page. Showing entry 1.
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00029685 - PubMed: Mercier, Küry, Shaboodien, Houniet 2013, Journal: Mercier, Küry, Shaboodien, Houniet et al (2013) 2-generation family, 1 affected, 3 unaffected non-carriers M no France Caucasian - 0 - - POIKTMP Photodistributed poikiloderma, eczematous lesions of the hands and feet, alopecia, heat intolerance, hypohidrosis. Progressive muscle weakness and tendon contractures of both feet. Myogenic pattern of the lower limbs (by EMG), diffuse fatty infiltration of skeletal muscle (by MRI). FAM111B FAM111B 1 1 Sébastien Küry
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