Details of Disease | DrugMAP

General Information of Disease (ID: DISWBB4P)

Disease Name	Autosomal recessive osteopetrosis 3
Synonyms	osteopetrosis, autosomal recessive 3; osteopetrosis autosomal recessive 3; Guibaud Vainsel syndrome; marble brain disease; Guibaud-Vainsel syndrome; osteopetrosis, autosomal recessive 3, with renal tubular acidosis; mixed RTA; osteopetrosis (disease) caused by mutation in CA2; autosomal recessive osteopetrosis type 3; renal tubular acidosis type 3; osteopetrosis, autosomal recessive type 3; osteopetrosis with renal tubular acidosis; mixed renal tubular acidosis; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase 2 deficiency; Autosomal Recessive osteopetrosis, type 3; carbonic anhydrase II deficiency; CA2 osteopetrosis (disease); OPTB3
Definition	Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Disease Hierarchy	DIS7GHNM: Osteopetrosis DIS8C3LZ: Infantile malignant osteopetrosis DISWBB4P: Autosomal recessive osteopetrosis 3
Disease Identifiers	MONDO ID MONDO_0009818 MESH ID C536058 UMLS CUI C0345407 OMIM ID 259730 MedGen ID 91042 Orphanet ID 2785 SNOMED CT ID 254122007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HCAR2	TTWNV8U	moderate	Genetic Variation	[1]
CA2	TTANPDJ	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CA2	DE1Z0MO	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADCY10	OTYSTB0R	moderate	Genetic Variation	[1]
MAGEC3	OT0KDWZN	moderate	Genetic Variation	[1]
CA2	OTJRMUAG	Definitive	Autosomal recessive	[3]
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References

1	Small-molecule suppression of misfolding of mutated human carbonic anhydrase II linked to marble brain disease.Biochemistry. 2009 Jun 16;48(23):5358-64. doi: 10.1021/bi900128e.
2	Effect of disease-linked mutations on the structure, function, stability and aggregation of human carbonic anhydrase II.Int J Biol Macromol. 2020 Jan 15;143:472-482. doi: 10.1016/j.ijbiomac.2019.11.012. Epub 2019 Nov 25.
3	A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet. 2003 Feb;40(2):115-21. doi: 10.1136/jmg.40.2.115.