Details of Disease

General Information of Disease (ID: DISFPJ78)

Disease Name Geroderma osteodysplastica
Synonyms GO; GERODERMA OSTEODYSPLASTICUM; Geroderma osteodysplasticum; Gerodermia osteodysplastica; Walt Disney dwarfism; geroderma osteodysplastica
Definition
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS0OJ0Q: Inherited cutis laxa
DISFPJ78: Geroderma osteodysplastica
Disease Identifiers
MONDO ID
MONDO_0009271
MESH ID
C537799
UMLS CUI
C0432255
OMIM ID
231070
MedGen ID
98149
Orphanet ID
2078
SNOMED CT ID
254116003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PYCR1 OTQHB52T Supportive Autosomal recessive [1]
ATP6V0A2 OTJBDX0Y Strong Biomarker [2]
B3GAT3 OTDSN5XF Strong Genetic Variation [3]
GORAB OTP65YD7 Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------

References

1 The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. Am J Med Genet A. 2011 Jan;155A(1):134-40. doi: 10.1002/ajmg.a.33747. Epub 2010 Dec 9.
2 Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635.
3 Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. Genes (Basel). 2019 Aug 21;10(9):631. doi: 10.3390/genes10090631.
4 Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9.