Details of Disease | DrugMAP

General Information of Disease (ID: DISZKSYK)

Disease Name	Atelosteogenesis type I
Synonyms	spondylohumerofemoral hypoplasia; atelosteogenesis, type I; atelosteogenesis, type 1; AOI; giant cell chondrodysplasia; atelosteogenesis type 1; AO1; spondylo-humero-femoral dysplasia
Definition	Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Disease Hierarchy	DISP0R2U: Filamin-related bone disorder DISOAHZ2: Atelosteogenesis DISZKSYK: Atelosteogenesis type I
Disease Identifiers	MONDO ID MONDO_0007167 MESH ID C535396 UMLS CUI C0265283 OMIM ID 108720 MedGen ID 82701 Orphanet ID 1190 SNOMED CT ID 725141006

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 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLNB	OTPCOYL6	Definitive	Autosomal dominant	[2]
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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	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.