Details of Disease | DrugMAP

General Information of Disease (ID: DISRNBJZ)

Disease Name	Short stature with nonspecific skeletal abnormalities
Synonyms	SNSK; short stature with nonspecific skeletal abnormalities
Disease Hierarchy	DISYKSRF: Genetic disease DISRNBJZ: Short stature with nonspecific skeletal abnormalities
Disease Identifiers	MONDO ID MONDO_0014551 UMLS CUI C4225399 OMIM ID 616255 MedGen ID 906874

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NPPC	TTRK0B9	Limited	Autosomal dominant	[1]
NPR2	TTNB7IF	Strong	Autosomal dominant	[2]
NPR2	TTNB7IF	Strong	Genetic Variation	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPPC	OTYJ0LMA	Limited	Autosomal dominant	[1]
IHH	OT1DWGXC	Strong	Genetic Variation	[4]
NPR2	OT4651SI	Strong	Autosomal dominant	[2]
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References

1	Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28.
2	Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004 Jul;75(1):27-34. doi: 10.1086/422013. Epub 2004 May 14.
3	Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature.J Clin Endocrinol Metab. 2014 Apr;99(4):E713-8. doi: 10.1210/jc.2013-3525. Epub 2014 Jan 28.
4	IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026.