| H00886 | |
| H番号 | H00886 |
| 名称 | Donnai-Barrow 症候群 |
| 概要 | Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder of multiple anomalies resulting from mutations in the LRP2 gene. It is characterized by agenesis of the corpus callosum, typical craniofacial features (ocular hypertelorism, enlarged fontanelle), ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06501(H00886) HH signaling |
| 病因遺伝子 | LRP2 [HSA:4036] [KO:K06233] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536390 OMIM: 222448 |
| 文献 | PMID:20301732 著者 Kantarci S, Donnai D, Noonan KM, Pober BR タイトル Donnai-Barrow Syndrome 雑誌 GeneReviews (1993) PMID:19089858 著者 Pober BR, Longoni M, Noonan KM タイトル A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. 雑誌 Birth Defects Res A Clin Mol Teratol 85:76-81 (2009) DOI:10.1002/bdra.20534 PMID:18553518 著者 Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR タイトル Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 雑誌 Am J Med Genet A 146A:1842-7 (2008) DOI:10.1002/ajmg.a.32381 |