Details of Disease | DrugMAP

General Information of Disease (ID: DISPJ64W)

Disease Name	Autosomal recessive osteopetrosis 7
Synonyms	osteopetrosis autosomal recessive 7; osteopetrosis osteoclast-poor with hypogammaglobulinemia; osteopetrosis, autosomal recessive 7; osteopetrosis, osteoclast-poor, with hypogammaglobulinemia; osteopetrosis, autosomal recessive type 7; osteopetrosis (disease) caused by mutation in TNFRSF11A; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis-hypogammaglobulinemia syndrome; OPTB7; TNFRSF11A osteopetrosis (disease); autosomal recessive osteopetrosis type 7; osteoclast-poor osteopetrosis with hypogammaglobulinemia
Definition	Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.
Disease Hierarchy	DISAEGPH: Immune system disorder DIS7GHNM: Osteopetrosis DIS8C3LZ: Infantile malignant osteopetrosis DISPJ64W: Autosomal recessive osteopetrosis 7
Disease Identifiers	MONDO ID MONDO_0012859 MESH ID C567354 UMLS CUI C2676766 OMIM ID 612301 MedGen ID 436770 Orphanet ID 178389

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TNFRSF11A	TT3K9S2	Strong	Autosomal recessive	[1]
TNFRSF11A	TT3K9S2	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A3	DTZAWTH	Disputed	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TNFRSF11A	OT1FISGN	Strong	Autosomal recessive	[1]
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References

1	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.
2	TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.J Bone Miner Res. 2019 Oct;34(10):1873-1879. doi: 10.1002/jbmr.3805. Epub 2019 Aug 5.