Details of Disease | DrugMAP

General Information of Disease (ID: DISBQFGY)

Disease Name	Autosomal recessive osteopetrosis 2
Synonyms	osteopetrosis, mild autosomal recessive form; osteopetrosis, osteoclast-poor; osteopetrosis autosomal recessive 2; osteopetrosis osteoclast-poor; osteopetrosis, autosomal recessive 2; mild autosomal recessive form osteopetrosis; osteopetrosis, autosomal recessive type 2; TNFSF11 autosomal recessive malignant osteopetrosis; autosomal recessive osteopetrosis type 2; TNFSF11 autosomal recessive osteopetrosis; autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11; OPTB2; autosomal recessive osteopetrosis caused by mutation in TNFSF11; osteoclast-poor osteopetrosis
Definition	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene.
Disease Hierarchy	DIS8C3LZ: Infantile malignant osteopetrosis DISBQFGY: Autosomal recessive osteopetrosis 2
Disease Identifiers	MONDO ID MONDO_0009816 MESH ID C536059 UMLS CUI C1850126 OMIM ID 259710 MedGen ID 342420

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
TNFRSF11A	TT3K9S2	Strong	Genetic Variation	[1]
TNFSF11	TT9E8HR	Strong	Autosomal recessive	[2]
TNFSF11	TT9E8HR	Strong	Biomarker	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNFSF11	OTJEPKEQ	Strong	Autosomal recessive	[2]
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References

1	RANK receptor oligomerisation in the regulation of NFB signalling.J Mol Endocrinol. 2014 Aug;53(1):81-91. doi: 10.1530/JME-14-0077. Epub 2014 May 23.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3	Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.Dev Biol. 2016 Jul 15;415(2):216-227. doi: 10.1016/j.ydbio.2015.07.023. Epub 2015 Jul 31.