Details of Disease

General Information of Disease (ID: DISXWLS8)

Disease Name Metatropic dysplasia
Synonyms Metatropic dysplasia, nonlethal dominant; Metatropic dwarfism; Metatropic Dysplasia I; metatropic dysplasia
Definition
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISRJWLL: TRPV4-related bone disorder
DISXWLS8: Metatropic dysplasia
Disease Identifiers
MONDO ID
MONDO_0007986
MESH ID
C537356
UMLS CUI
C0265281
OMIM ID
156530
MedGen ID
82699
Orphanet ID
2635
SNOMED CT ID
22764001

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
TRPV4 TTKP2SU Limited Genetic Variation [1]
TRPV4 TTKP2SU Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRPV4 OTPZKQLX Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.Orthop Surg. 2020 Feb;12(1):333-336. doi: 10.1111/os.12546. Epub 2019 Dec 6.
2 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.