Details of Disease | DrugMAP

General Information of Disease (ID: DISQCPVO)

Disease Name	Metaphyseal anadysplasia
Synonyms	early-onset regressive form of metaphyseal dysplasia; MAD; Maroteaux Verloes Stanescu syndrome; Maroteaux-Verloes-Stanescu syndrome; regressive metaphyseal dysplasia
Definition	Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
Disease Hierarchy	DIS5Z8U6: Skeletal dysplasia DISQCPVO: Metaphyseal anadysplasia
Disease Identifiers	MONDO ID MONDO_0015177 MESH ID C537351 UMLS CUI C0432226 MedGen ID 96582 Orphanet ID 1040 SNOMED CT ID 254085009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MMP13	TTHY57M	Supportive	Autosomal dominant	[1]
MMP13	TTHY57M	moderate	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMP9	DEA0BDX	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMP13	OTY8BZIE	Supportive	Autosomal dominant	[1]
MMP9	OTB2QDAV	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
2	A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.Eur J Med Genet. 2019 Nov;62(11):103575. doi: 10.1016/j.ejmg.2018.11.009. Epub 2018 Nov 12.