Details of Disease

General Information of Disease (ID: DISI71VA)

• Disease Name: Autosomal recessive osteopetrosis 4
• Synonyms: osteopetrosis infantile malignant 2; osteopetrosis, infantile malignant 2; osteopetrosis, autosomal recessive 4; osteopetrosis autosomal recessive 4; infantile malignant osteopetrosis 2; OPTB4; CLCN7 autosomal recessive osteopetrosis; autosomal recessive osteopetrosis caused by mutation in CLCN7; osteopetrosis, autosomal recessive type 4; autosomal recessive osteopetrosis type 4; CLCN7-related osteopetrosis; CLCN7 autosomal recessive malignant osteopetrosis; autosomal recessive malignant osteopetrosis caused by mutation in CLCN7
• Definition: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.
• Disease Hierarchy:
  DIS8C3LZ: Infantile malignant osteopetrosis
  DISI71VA: Autosomal recessive osteopetrosis 4
• Disease Identifiers:
  MONDO ID: MONDO_0012676
  MESH ID: C566933
  UMLS CUI: C1969106
  OMIM ID: 611490
  MedGen ID: 370598

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
CLCN7	TTST1AJ	Disputed	Genetic Variation	[1]
CLCN7	TTST1AJ	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN7	OTJVSUK1	Definitive	Autosomal recessive	[2]

References

• [1] A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.Gene. 2016 Jan 15;576(1 Pt 1):176-81. doi: 10.1016/j.gene.2015.10.021. Epub 2015 Oct 22.
• [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.