Details of Disease

General Information of Disease (ID: DIS903NR)

Disease Name Atelosteogenesis type II
Synonyms
De 50A Chapelle dysplasia; atelosteogenesis II; atelosteogenesis, type II; neonatal osseous dysplasia 1; atelosteogenesis, type 2; De la Chapelle dysplasia; AOII; atelosteogenesis type II; atelosteogenesis type 2; neonatal osseous dysplasia type 1; AO2
Definition
A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DISOAHZ2: Atelosteogenesis
DISV96AT: Mineral metabolism disease
DIS903NR: Atelosteogenesis type II
Disease Identifiers
MONDO ID
MONDO_0009727
MESH ID
C535395
UMLS CUI
C1850554
OMIM ID
256050
MedGen ID
338072
Orphanet ID
56304
SNOMED CT ID
254055004

Molecular Interaction Atlas (MIA) of This Disease

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

References

1 Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.EBioMedicine. 2019 Feb;40:695-709. doi: 10.1016/j.ebiom.2019.01.010. Epub 2019 Jan 23.
2 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.
3 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.