Metaphyseal anadysplasia 1, autosomal dominant(MANDP1)

MedGen UID:: 865080
•Concept ID:: C4016643
•: Finding

Synonyms:	MANDP1; Metaphyseal anadysplasia 1

OMIM®:	600108

Recent clinical studies

Etiology

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Song C, Li N, Hu X, Shi Y, Chen L, Zhou T, Xu X, Shen J, Zhu M
Eur J Med Genet 2019 Nov;62(11):103575. Epub 2018 Nov 12 doi: 10.1016/j.ejmg.2018.11.009. PMID: 30439533

See all (1)

Diagnosis

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.

Diaz Escagedo P, Fiscaletti M, Olivier P, Hudon C, Miranda V, Miron MC, Campeau PM, Alos N
BMC Pediatr 2021 May 22;21(1):248. doi: 10.1186/s12887-021-02716-x. PMID: 34022834 Free PMC Article

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Song C, Li N, Hu X, Shi Y, Chen L, Zhou T, Xu X, Shen J, Zhu M
Eur J Med Genet 2019 Nov;62(11):103575. Epub 2018 Nov 12 doi: 10.1016/j.ejmg.2018.11.009. PMID: 30439533

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA
Eur J Hum Genet 2015 Feb;23(2):264-6. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.76. PMID: 24781753 Free PMC Article

See all (3)

Prognosis

Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.

Diaz Escagedo P, Fiscaletti M, Olivier P, Hudon C, Miranda V, Miron MC, Campeau PM, Alos N
BMC Pediatr 2021 May 22;21(1):248. doi: 10.1186/s12887-021-02716-x. PMID: 34022834 Free PMC Article

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA
Eur J Hum Genet 2015 Feb;23(2):264-6. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.76. PMID: 24781753 Free PMC Article

See all (2)

Clinical prediction guides

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Song C, Li N, Hu X, Shi Y, Chen L, Zhou T, Xu X, Shen J, Zhu M
Eur J Med Genet 2019 Nov;62(11):103575. Epub 2018 Nov 12 doi: 10.1016/j.ejmg.2018.11.009. PMID: 30439533

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA
Eur J Hum Genet 2015 Feb;23(2):264-6. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.76. PMID: 24781753 Free PMC Article

See all (2)

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Metaphyseal anadysplasia 1, autosomal dominant(MANDP1)

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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