Details of Disease

General Information of Disease (ID: DISU8DQM)

• Disease Name: Autosomal recessive osteopetrosis 1
• Synonyms: osteopetrosis, autosomal recessive 1; osteopetrosis autosomal recessive 1; osteopetrosis infantile malignant 1; marble bones autosomal recessive; Albers-Schonberg disease, autosomal recessive; osteopetrosis, infantile malignant 1; marble bones, autosomal recessive; autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1; infantile malignant osteopetrosis 1; TCIRG1 autosomal recessive malignant osteopetrosis; OPTB1; TCIRG1 autosomal recessive osteopetrosis; autosomal recessive Albers-Schonberg disease; autosomal recessive osteopetrosis 1; autosomal recessive osteopetrosis caused by mutation in TCIRG1; osteopetrosis, autosomal recessive type 1; autosomal recessive osteopetrosis type 1
• Definition: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene.
• Disease Hierarchy:
  DIS8C3LZ: Infantile malignant osteopetrosis
  DISU8DQM: Autosomal recessive osteopetrosis 1
• Disease Identifiers:
  MONDO ID: MONDO_0009815
  MESH ID: C564915
  UMLS CUI: C1850127
  OMIM ID: 259700
  MedGen ID: 376708

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TCIRG1	TTVRN05	Strong	Genetic Variation	[1]
TCIRG1	TTVRN05	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC154	OTFGNMNP	Strong	Biomarker	[3]
TCIRG1	OTU1AIEW	Definitive	Autosomal recessive	[2]

References

• [1] Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.J Bone Miner Res. 2015 Oct;30(10):1814-21. doi: 10.1002/jbmr.2517. Epub 2015 May 21.
• [2] 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.
• [3] A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots.Eur J Oral Sci. 2009 Dec;117(6):625-35. doi: 10.1111/j.1600-0722.2009.00690.x.