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GPHYSD3
MCID: GLP007
MIFTS: 37
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Geleophysic Dysplasia 3 (GPHYSD3)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Geleophysic Dysplasia 3:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of a family and 2 unrelated patients (last curated december 2017) early death due to respiratory failure (in some patients) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases |
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UniProtKB/Swiss-Prot: 73 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 hydrophthalmos and spastic paraplegia 76, autosomal recessive. 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 Extracellular matrix organization. Affiliated tissues include bone, skin and trachea, and related phenotypes are polyhydramnios and long philtrum Disease Ontology: 11 A geleophysic dysplasia that has material basis in heterozygous mutation in LTBP3 on chromosome 11q13.1. |
Human phenotypes related to Geleophysic Dysplasia 3:30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617809 (Updated 08-Dec-2022) |
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Organs/tissues related to Geleophysic Dysplasia 3:
MalaCards :
Bone,
Skin,
Trachea,
Lung
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Articles related to Geleophysic Dysplasia 3:
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Genes related to Geleophysic Dysplasia 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Geleophysic Dysplasia 3:5
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Search
GEO
for disease gene expression data for Geleophysic Dysplasia 3.
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Pathways related to Geleophysic Dysplasia 3 according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Geleophysic Dysplasia 3 according to GeneCards Suite gene sharing:
Biological processes related to Geleophysic Dysplasia 3 according to GeneCards Suite gene sharing:
Molecular functions related to Geleophysic Dysplasia 3 according to GeneCards Suite gene sharing:
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