| H01967 | |
| H number | H01967 |
| Name | Anauxetic dysplasia |
| Description | Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex. |
| Category | Congenital malformation |
| Network | - |
| Gene | (ANXD1) RMRP [HSA:6023] [KO:K14576] (ANXD2) POP1 [HSA:10940] [KO:K01164] (ANXD3) NEPRO [HSA:25871] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C538256 OMIM: 607095 617396 618853 |
| Reference | PMID:11370632 AUTHORS Horn D, Rupprecht E, Kunze J, Spranger J TITLE Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism. JOURNAL J Med Genet 38:262-5 (2001) DOI:10.1136/jmg.38.4.262 PMID:16252239 AUTHORS Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A TITLE Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. JOURNAL Am J Hum Genet 77:795-806 (2005) DOI:10.1086/497708 PMID:28067412 AUTHORS Barraza-Garcia J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchon-Martinez A, Sentchordi-Montane L, Duncan EL, Clark GR, Del Pozo A, Ibanez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE TITLE Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. JOURNAL Clin Genet 92:91-98 (2017) DOI:10.1111/cge.12964 PMID:31250547 AUTHORS Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM TITLE An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. JOURNAL Am J Med Genet A 179:1709-1717 (2019) DOI:10.1002/ajmg.a.61267 |