|
MCID: GLP007
MIFTS: 16
|
Geleophysic Dysplasia 3
Categories:
Genetic diseases, Bone diseases, Fetal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Geleophysic Dysplasia 3:Characteristics:OMIM:57
Inheritance:
autosomal dominant
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 Fetal diseases Rare diseases Anatomical: Bone diseases |
|
UniProtKB/Swiss-Prot
:
75
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, is also known as gphysd3. An important gene associated with Geleophysic Dysplasia 3 is LTBP3 (Latent Transforming Growth Factor Beta Binding Protein 3). Affiliated tissues include bone and skin.
Description from OMIM:
617809
|
Diseases in the Geleophysic Dysplasia family:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617809 |
|
|
MalaCards organs/tissues related to Geleophysic Dysplasia 3:41
Bone,
Skin
|
ClinVar genetic disease variations for Geleophysic Dysplasia 3:6
|
|
Search
GEO
for disease gene expression data for Geleophysic Dysplasia 3.
|
|
|
|