Details of Disease

General Information of Disease (ID: DISZOO1G)

Disease Name Geleophysic dysplasia
Synonyms geleophysic dwarfism syndrome; geleophysic dwarfism
Definition Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Disease Hierarchy
DISMZUIT: Acromelic dysplasia
DISZOO1G: Geleophysic dysplasia
Disease Identifiers
MONDO ID
MONDO_0000127
MESH ID
C535662
UMLS CUI
C3489726
MedGen ID
483679
Orphanet ID
2623
SNOMED CT ID
28557005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADAMTS17 OTCFITM9 Limited Biomarker [1]
ADAMTSL4 OTBILJMW Limited Biomarker [1]
ADAMTSL2 OTAXNV2U Disputed Biomarker [2]
FBN1 OTYCJT63 Supportive Autosomal dominant [3]
LTBP3 OTME98V7 Supportive Autosomal dominant [4]
SMAD2 OTC6VB4K Strong Biomarker [5]
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⏷ Show the Full List of 6 DOT(s)

References

1 Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function.Cell Mol Life Sci. 2011 Oct;68(19):3137-48. doi: 10.1007/s00018-011-0780-9. Epub 2011 Aug 20.
2 Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.Matrix Biol. 2019 Sep;82:38-53. doi: 10.1016/j.matbio.2019.02.001. Epub 2019 Feb 7.
3 Geleophysic Dysplasia. 2009 Sep 22 [updated 2024 Mar 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
4 Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11.
5 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.