Autosomal recessive osteopetrosis 4

Autosomal recessive osteopetrosis 4 is caused by a deficient chloride channel. Mutations are found in the CLCN7 gene.

Systematic

Osteopetrosis
	Autosomal dominant osteopetrosis 1
	Autosomal dominant osteopetrosis 2
	Autosomal recessive osteopetrosis 4
		CLCN7
	Autosomal recessive osteopetrosis 7
	Combined renal tubular acidosis 3 with osteopetrosis 3

References:

1.	Cleiren E et al. (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

2.	Kornak U et al. (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

3.	Lam CW et al. (2007) DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

4.	OMIM.ORG article Omim 611490

5.	Orphanet article Orphanet ID 53

Update: June 23, 2025

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