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autosomal recessive osteopetrosis 1

Summary

Synonym

OPTB1
autosomal recessive Albers-Schonberg disease
infantile malignant osteopetrosis 1

Definition

An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2.

Super Class

autosomal recessive disease osteopetrosis

External Links

Disease Ontology

DOID:0110942

Mondo Disease Ontology

MONDO:0009815

OMIM

259700

GARD

2579

MGI genotype (from TogoID)

WikiPathways (from TogoID)

WP4788

Related Genes

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
535	ATP6V0A1	ATPase H+ transporting V0 subunit a1	Alliance of Genome Resources
23545	ATP6V0A2	ATPase H+ transporting V0 subunit a2	Alliance of Genome Resources
50617	ATP6V0A4	ATPase H+ transporting V0 subunit a4	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
11975	Atp6v0a1	ATPase, H+ transporting, lysosomal V0 subunit A1	Alliance of Genome Resources
21871	Atp6v0a2	ATPase, H+ transporting, lysosomal V0 subunit A2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
29757	Atp6v0a1	ATPase H+ transporting V0 subunit a1	Alliance of Genome Resources

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
174743	vha-6	V-type proton ATPase 116 kDa subunit a 3	Alliance of Genome Resources
177626	vha-5	V-type proton ATPase 116 kDa subunit a 2	Alliance of Genome Resources
178219	vha-7	V-type proton ATPase 116 kDa subunit a 4	Alliance of Genome Resources