| H00470 | |
| H number | H00470 |
| Name | Acromesomelic dysplasia, Maroteaux type |
| Description | Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified. |
| Category | Congenital malformation |
| Network | - |
| Gene | NPR2 [HSA:4882] [KO:K12324] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.9 ICD-10: Q77.8 MeSH: C535661 OMIM: 602875 |
| Reference | PMID:18945719 AUTHORS Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR TITLE Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. JOURNAL Hum Mol Genet 18:267-77 (2009) DOI:10.1093/hmg/ddn354 PMID:15146390 AUTHORS Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML TITLE Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. JOURNAL Am J Hum Genet 75:27-34 (2004) DOI:10.1086/422013 PMID:17652215 AUTHORS Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y TITLE Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. JOURNAL J Clin Endocrinol Metab 92:4009-14 (2007) DOI:10.1210/jc.2007-1101 |