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Type 2 collagenopathy

MedGen UID:: 419326
•Concept ID:: C2931073
•: Disease or Syndrome

Synonyms:	Cartilage collagen; Collagen II; Collagenopathy type 2 alpha 1; Type 2 collagen-related bone disorder

Monarch Initiative:	MONDO:0022800
Orphanet:	ORPHA93421

Definition

Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. [from MONDO]

Recent clinical studies

Etiology

Ophthalmic manifestations of Czech dysplasia.

Soh Z, Martin H, Richards AJ, Suri M, Snead MP
Am J Med Genet A 2024 Apr;194(4):e63480. Epub 2023 Nov 19 doi: 10.1002/ajmg.a.63480. PMID: 37982325

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Diagnosis

Ophthalmic manifestations of Czech dysplasia.

Soh Z, Martin H, Richards AJ, Suri M, Snead MP
Am J Med Genet A 2024 Apr;194(4):e63480. Epub 2023 Nov 19 doi: 10.1002/ajmg.a.63480. PMID: 37982325

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Yamamoto K, Kubota T, Takeyari S, Kitaoka T, Miyata K, Nakano Y, Nakayama H, Ohata Y, Yanagi K, Kaname T, Okada Y, Ozono K
Am J Med Genet A 2020 Mar;182(3):454-460. Epub 2019 Dec 19 doi: 10.1002/ajmg.a.61422. PMID: 31854518

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Type 2 collagenopathy

Definition

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Recent clinical studies

Etiology

Diagnosis

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