Details of Disease

General Information of Disease (ID: DISCBQB8)

Disease Name Achondrogenesis
Definition
Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.
Disease Hierarchy
DISZ8ZFO: Spondylodysplastic dysplasia
DIS9SPWW: Osteochondrodysplasia
DISCBQB8: Achondrogenesis
Disease Identifiers
MONDO ID
MONDO_0019648
MESH ID
C579878
UMLS CUI
C0001079
MedGen ID
84
Orphanet ID
932
SNOMED CT ID
2391001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A2 DTFSLX5 Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DOCK11 OTFSTN6A Strong Genetic Variation [2]
TRIP11 OT4FJEAR Strong Genetic Variation [3]
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References

1 Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.Eur J Med Genet. 2019 Nov;62(11):103573. doi: 10.1016/j.ejmg.2018.11.007. Epub 2018 Nov 10.
2 A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.Am J Med Genet A. 2006 Jun 1;140(11):1143-7. doi: 10.1002/ajmg.a.31225.
3 Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701.