| H01832 | |
| H number | H01832 |
| Name | Lenz-Majewski syndrome; Lenz-Majewski hyperostotic dwarfism |
| Description | Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism, is an extremely rare syndrome characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous and distal-limb anomalies. Mutations in the PTDSS1 gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, have been described as causative in LMS patients. Such mutations render PSS1 insensitive to feedback inhibition by PS levels. |
| Category | Congenital malformation |
| Network | - |
| Gene | PTDSS1 [HSA:9791] [KO:K08729] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.1Y ICD-10: Q87.1 MeSH: C537115 OMIM: 151050 |
| Reference | PMID:5249155 AUTHORS Braham RL TITLE Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. JOURNAL Oral Surg Oral Med Oral Pathol 27:20-6 (1969) DOI:10.1016/0030-4220(69)90026-7 PMID:27044099 AUTHORS Sohn M, Ivanova P, Brown HA, Toth DJ, Varnai P, Kim YJ, Balla T TITLE Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. JOURNAL Proc Natl Acad Sci U S A 113:4314-9 (2016) DOI:10.1073/pnas.1525719113 PMID:24241535 AUTHORS Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlova M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE TITLE Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. JOURNAL Nat Genet 46:70-6 (2014) DOI:10.1038/ng.2829 PMID:26117586 AUTHORS Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK TITLE Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. JOURNAL Eur J Med Genet 58:392-9 (2015) DOI:10.1016/j.ejmg.2015.06.002 |