Details of Disease | DrugMAP

General Information of Disease (ID: DIS7IMR5)

Disease Name	Achondrogenesis type II
Synonyms	achondrogenesis, type IB, formerly; achondrogenesis, type II; ACG2; hypochondrogenesis; achondrogenesis, type IB; chondrogenesis imperfecta; achondrogenesis, type 2; achondrogenesis type 2; achondrogenesis, type II or hypochondrogenesis; achondrogenesis, Langer-Saldino type; achondrogenesis type II
Definition	Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Disease Hierarchy	DIS8WIDY: Type 2 collagenopathy DISCBQB8: Achondrogenesis DIS7IMR5: Achondrogenesis type II
Disease Identifiers	MONDO ID MONDO_0008702 MESH ID C536017 UMLS CUI C0220685 OMIM ID 200610 MedGen ID 66315 Orphanet ID 93296 SNOMED CT ID 254061001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MATN1	OTBRTCTQ	moderate	Genetic Variation	[1]
COL2A1	OT5E59C8	Definitive	Autosomal dominant	[2]
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References

1	Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino).Front Biosci. 2005 Jan 1;10:446-53. doi: 10.2741/1540. Print 2005 Jan 1.
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.