Details of Disease | DrugMAP

General Information of Disease (ID: DISTWRZO)

Disease Name	Gnathodiaphyseal dysplasia
Synonyms	GNATHODIAPHYSEAL dysplasia; Levin syndrome 2; osteogenesis imperfecta Levin type; Gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions; GDD; gnathodiaphyseal dysplasia
Definition	Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
Disease Hierarchy	DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DISTWRZO: Gnathodiaphyseal dysplasia
Disease Identifiers	MONDO ID MONDO_0008151 MESH ID C536039 UMLS CUI C1833736 OMIM ID 166260 MedGen ID 331575 Orphanet ID 53697 SNOMED CT ID 715568002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNB1	OTLL7L74	Disputed	Genetic Variation	[1]
ANO5	OTOW8R6H	Strong	Autosomal dominant	[2]
DHX30	OT7W9CEZ	Strong	Genetic Variation	[3]
DNAJC12	OTNU59PT	Definitive	Biomarker	[4]
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References

1	Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018.
2	The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun;74(6):1255-61. doi: 10.1086/421527. Epub 2004 Apr 29.
3	De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014.
4	DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.Eur J Hum Genet. 2018 Dec;26(12):1867-1870. doi: 10.1038/s41431-018-0237-9. Epub 2018 Aug 23.