 | DISEASE: Achondrogenesis type II | Help |
| Entry | |
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| Name | Achondrogenesis type II;Achondrogenesis, Langer-Saldino type |
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| Supergrp | Type II collagenopathies [DS:H00520] |
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| Description | Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations. |
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| Category | Congenital malformation |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H02066 Achondrogenesis type II Pathway-based classification of diseases [BR:br08402] Cellular process nt06548 Integrin signaling H02066 Achondrogenesis type II BRITE hierarchy |
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| Pathway | | hsa04151 | PI3K-Akt signaling pathway |
| hsa04518 | Integrin signaling |
| hsa04512 | ECM-receptor interaction |
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| Network | nt06548 Integrin signaling |
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| Gene | COL2A1 [HSA:1280] [KO:K19719] |
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| Other DBs | |
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| Reference | PMID:15054848 |
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| Authors | Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G |
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| Title | Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. |
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| Journal | Am J Med Genet A 126A:308-12 (2004)DOI:10.1002/ajmg.a.20597 |
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| Reference | PMID:17994563 |
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| Authors | Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F |
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| Title | A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. |
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| Journal | Am J Med Genet A 143A:2815-20 (2007)DOI:10.1002/ajmg.a.32047 |
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