Details of Disease

General Information of Disease (ID: DISHNE51)

Disease Name Hypochondroplasia
Synonyms HCH; hypochondroplasia
Definition Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DIS18AKT: FGFR3-related chondrodysplasia
DISHNE51: Hypochondroplasia
Disease Identifiers
MONDO ID
MONDO_0007793
MESH ID
C562937
UMLS CUI
C0410529
OMIM ID
146000
MedGen ID
98376
Orphanet ID
429
SNOMED CT ID
205468002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR3 TTST7KB Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BUD13 OTXG6MX5 Strong Genetic Variation [2]
DOCK7 OTINNVQV Strong Genetic Variation [3]
GALNT2 OTZZ5386 Strong Genetic Variation [3]
SHOX OTE0YZJO Strong Genetic Variation [4]
FGFR3 OTSAXDIL Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Association of the variants in the BUD13-ZNF259 genes and the risk of hyperlipidaemia.J Cell Mol Med. 2014 Jul;18(7):1417-28. doi: 10.1111/jcmm.12291. Epub 2014 Apr 30.
3 Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.J Cell Mol Med. 2016 Feb;20(2):243-65. doi: 10.1111/jcmm.12713. Epub 2015 Oct 23.
4 New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.Am J Med Genet A. 2012 Oct;158A(10):2456-62. doi: 10.1002/ajmg.a.35564. Epub 2012 Aug 17.