Details of Disease

General Information of Disease (ID: DISDPMVZ)

Disease Name Leri-Weill dyschondrosteosis
Synonyms
Madelung deformity; dyschondrosteosis; DCo; Lri-Weill dyschondrosteosis; Leri-Weill dyschondrosteosis; Leri-Weill syndrome; Leri-Weill dyschondrosteosis, Pseudoautosomal dominant; Leri-Weill dyschondrostosis; Lri-Weill syndrome; Leri Weill dyschondrosteosis; LWD
Definition Leri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DIS5Z8U6: Skeletal dysplasia
DISDPMVZ: Leri-Weill dyschondrosteosis
Disease Identifiers
MONDO ID
MONDO_0007481
MESH ID
C537119
UMLS CUI
C0265309
OMIM ID
127300
MedGen ID
75562
Orphanet ID
240
SNOMED CT ID
17818006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
F2R TTL935N Limited Biomarker [1]
NR1I2 TT7LCTF Limited Biomarker [1]
SLC52A2 TT6TKEN Limited Biomarker [1]
NPR2 TTNB7IF Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SHOX2 OTLCZZJW Strong Genetic Variation [3]
SHOX OTE0YZJO Definitive X-linked [4]
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References

1 Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.Am J Med Genet A. 2014 Feb;164A(2):505-10. doi: 10.1002/ajmg.a.36284. Epub 2013 Dec 5.
2 Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Lri-Weill Dyschondrosteosis.J Clin Endocrinol Metab. 2015 Aug;100(8):E1133-42. doi: 10.1210/jc.2015-1612. Epub 2015 Jun 15.
3 NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.PLoS One. 2014 Jan 8;9(1):e83104. doi: 10.1371/journal.pone.0083104. eCollection 2014.
4 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.