| H00518 | |
| H number | H00518 |
| Name | Metaphyseal dysplasia without hypotrichosis |
| Description | Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency. |
| Category | Ribosomopathy |
| Network | - |
| Gene | RMRP [HSA:6023] [KO:K14576] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.7 ICD-10: Q78.8 MeSH: C563574 OMIM: 250460 |
| Reference | PMID:17189938 AUTHORS Martin AN, Li Y TITLE RNase MRP RNA and human genetic diseases. JOURNAL Cell Res 17:219-26 (2007) DOI:10.1038/sj.cr.7310120 PMID:11940090 AUTHORS Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A TITLE RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. JOURNAL Clin Genet 61:146-51 (2002) DOI:10.1034/j.1399-0004.2002.610210.x |