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autosomal recessive osteopetrosis 7
Summary
- Synonym
-
- OPTB7
- autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- autosomal recessive osteopetrosis type 7
- osteoclast-poor osteopetrosis with hypogammaglobulinemia
- osteopetrosis-hypogammaglobulinemia syndrome
- Definition
- An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.
- Super Class
- autosomal recessive disease osteopetrosis
External Links
- Disease Ontology
- DOID:0110946
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 6916 | TBXAS1 | thromboxane A synthase 1 | |
| 8560 | DEGS1 | delta 4-desaturase, sphingolipid 1 | |
| 9663 | LPIN2 | lipin 2 | |
| 9791 | PTDSS1 | phosphatidylserine synthase 1 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15392 | Delta(24)-sterol reductase | |
| Q9UBQ6 | Exostosin-like 2 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
