Details of Disease

General Information of Disease (ID: DISVJW4A)

Disease Name Pseudoachondroplasia
Synonyms
PSACH; spondyloepiphyseal dysplasia, Pseudoachondroplastic; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Pseudoachondroplastic spondyloepiphyseal dysplasia; Pseudoachondroplastic dysplasia; spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC; pseudoachondroplastic dysplasia; pseudoachondroplasia
Definition Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DIS5Z8U6: Skeletal dysplasia
DISVJW4A: Pseudoachondroplasia
Disease Identifiers
MONDO ID
MONDO_0008322
MESH ID
C535819
UMLS CUI
C0410538
OMIM ID
177170
MedGen ID
98378
Orphanet ID
750
SNOMED CT ID
22567005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN8A TT54ERL Disputed Biomarker [1]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL9A1 OTWBR27Y Limited Genetic Variation [2]
COL10A1 OTC4G2YC moderate Genetic Variation [3]
HAPLN1 OTXWR9TJ moderate Genetic Variation [4]
ACAN OTUOCW8K Strong Altered Expression [5]
COL9A2 OT1ZBDBV Strong Genetic Variation [2]
COL9A3 OTCUJOEK Strong Genetic Variation [2]
MATN3 OTH9H74J Strong Genetic Variation [2]
COMP OTS2FPMI Definitive Autosomal dominant [6]
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⏷ Show the Full List of 8 DOT(s)

References

1 Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations.Cell Mol Life Sci. 2008 Mar;65(5):687-99. doi: 10.1007/s00018-007-7485-0.
2 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31.
3 SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.Am J Hum Genet. 1992 Oct;51(4):841-9.
4 Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.Am J Med Genet. 1992 Nov 1;44(4):420-4. doi: 10.1002/ajmg.1320440406.
5 Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development.Matrix. 1991 Nov;11(5):339-46. doi: 10.1016/s0934-8832(11)80205-2.
6 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.