Details of Disease

General Information of Disease (ID: DIS5LWCT)

• Disease Name: Autosomal recessive osteopetrosis 6
• Synonyms: osteopetrosis autosomal recessive 6; osteopetrosis, autosomal recessive 6; osteopetrosis, autosomal recessive, Intermediate form; intermediate osteopetrosis; osteopetrosis autosomal recessive intermediate form; autosomal recessive intermediate osteopetrosis; autosomal recessive osteopetrosis intermediate form; autosomal recessive osteopetrosis type 6; osteopetrosis (disease) caused by mutation in PLEKHM1; OPTB6; osteopetrosis, autosomal recessive type 6; PLEKHM1 osteopetrosis (disease)
• Definition: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
• Disease Hierarchy:
  DIS7GHNM: Osteopetrosis
  DIS8C3LZ: Infantile malignant osteopetrosis
  DIS5LWCT: Autosomal recessive osteopetrosis 6
• Disease Identifiers:
  MONDO ID: MONDO_0012679
  MESH ID: C566931
  UMLS CUI: C1969093
  OMIM ID: 611497
  MedGen ID: 409754
  Orphanet ID: 210110

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN7	TTST1AJ	Supportive	Autosomal recessive	[1]
TCIRG1	TTVRN05	Supportive	Autosomal recessive	[2]
CLCN7	TTST1AJ	Strong	GermlineCausalMutation	[1]
TCIRG1	TTVRN05	Definitive	GermlineCausalMutation	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN7	OTJVSUK1	Supportive	Autosomal recessive	[1]
TCIRG1	OTU1AIEW	Supportive	Autosomal recessive	[2]
PLEKHM1	OT1SLPGD	Moderate	Autosomal recessive	[4]

References

• [1] Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet. 2003 Feb;112(2):186-9. doi: 10.1007/s00439-002-0861-9. Epub 2002 Nov 7.
• [2] As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. J Bone Miner Res. 2014 Jul;29(7):1646-50. doi: 10.1002/jbmr.2203.
• [3] 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.
• [4] 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.