Geleophysic Dysplasia 3 (GPHYSD3)

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Disease Ontology 12 DOID:0111727 OMIM® 57 617809 OMIM Phenotypic Series 57 PS231050

MeSH 44 D004392 MedGen 41 C4540511 CN696019 SNOMED-CT via HPO 68 11296007 123983008 17417006 22668006 230145002 233604007 237836003 249321001 254080004 263681008 267036007 409622000 43476002 50219008 69943009 708670007 73430006 80515008 86203003 more

UniProtKB/Swiss-Prot : ⁷² Geleophysic dysplasia 3: A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant.

MalaCards based summary : Geleophysic Dysplasia 3, also known as gphysd3, is related to excessive tearing and witkop syndrome. An important gene associated with Geleophysic Dysplasia 3 is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. Affiliated tissues include bone, and related phenotypes are polyhydramnios and long philtrum

Disease Ontology : ¹² A geleophysic dysplasia that has material basis in heterozygous mutation in LTBP3 on chromosome 11q13.1.

More information from OMIM: 617809 PS231050

Clinical features from OMIM®:

617809 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia 3

Search GEO for disease gene expression data for Geleophysic Dysplasia 3.