更新于：2024-11-01

Achondrogenesis

软骨形成

更新于：2024-11-01

基本信息

别名

Achondrogenesis、Achondrogenesis (diagnosis)、Achondrogenesis (disorder)

+ [8]

简介

A rare group of disorders characterized by defective development of bones and cartilage.

关联

项与软骨形成相关的药物

GenMR_001

靶点-

作用机制-

在研机构

臻赫医药（杭州）有限公司

原研机构

臻赫医药（杭州）有限公司

在研适应症

软骨形成

非在研适应症-

最高研发阶段临床1期

首次获批国家/地区-

首次获批日期1800-01-20

项与软骨形成相关的临床试验

ACTRN12618001157268 / Completed临床1期

A Phase 1, Double-Blind, Randomized, Placebo-Controlled, Dose Escalation Trial Evaluating Safety, Tolerability and Pharmacokinetics of Subcutaneous Single Doses of ACP-015 in Healthy Adult Male Subjects.

开始日期2018-05-08

申办/合作机构

Ascendis Pharma Growth Disorders A/S

100 项与软骨形成相关的临床结果

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100 项与软骨形成相关的转化医学

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0 项与软骨形成相关的专利（医药）

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108

项与软骨形成相关的文献（医药）

2023-09-11·Diagnostics (Basel, Switzerland)

Skeletal Dysplasia: A Case Report.

Article

作者: Mîrza, Gabriela ; Peltecu, Gheorghe ; Gică, Nicolae ; Panaitescu, Anca Maria ; Huluță, Iulia ; Ciobanu, Anca Marina ; Gică, Corina

This paper presents a rare case of fetal hydrops detected at just 23 weeks of gestation in a 22-year-old woman's first pregnancy. The fetal ultrasound revealed severe skeletal anomalies, craniofacial deformities, and thoracic abnormalities, suggesting a complex and severe skeletal dysplasia, potentially type IA Achondrogenesis-a lethal autosomal recessive condition marked by ossification delay. This case highlights the significance of advanced genetic testing, such as next-generation sequencing (NGS) and whole-genome sequencing (WGS), in diagnosing and understanding skeletal dysplasias. Skeletal dysplasias represent a group of genetic disorders that affect osteogenesis. The prevalence of this condition is 1 in 4000 births. Sadly, 25% of affected infants are stillborn, and around 30% do not survive the neonatal period. There is a wide range of rare skeletal dysplasias, each with its own specific recurrence risk, dysmorphic expression, and implications for neonatal survival and quality of life. When skeletal dysplasia is incidentally discovered during routine ultrasound screening in a pregnancy not known to be at risk of a specific syndrome, a systematic examination of the limbs, head, thorax, and spine is necessary to reach the correct diagnosis. Prenatal diagnosis of skeletal dysplasia is crucial for providing accurate counselling to future parents and facilitating the proper management of affected pregnancies. An accurate diagnosis can be a real challenge due to the wide spectrum of clinical presentations of skeletal dysplasia but advances in imaging technologies and molecular genetics have improved accuracy. Additionally, some of these skeletal dysplasias may present clinical overlap, making it especially difficult to distinguish. After the 11th revision of genetic skeletal disorder nosology, there are 771 entities associated with 552 gene mutations. The most common types of skeletal dysplasia are thanatophoric dysplasia, osteogenesis imperfect, achondroplasia, achondrogenesis, and asphyxiating thoracic dystrophy.

2022-07-01·Developmental Dynamics

Disruption of Trip11 in cranial neural crest cells is associated with increased ER and Golgi stress contributing to skull defects in mice

Article

作者: He, Li ; Komatsu, Yoshihiro ; Yamaguchi, Hiroyuki ; Meyer, Matthew D.

AbstractBackgroundAbsence of Golgi microtubule‐associated protein 210 (GMAP210), encoded by the TRIP11 gene, results in achondrogenesis. Although TRIP11 is thought to be specifically required for chondrogenesis, human fetuses with the mutation of TRIP11 also display bony skull defects where chondrocytes are usually not present. This raises an important question of how TRIP11 functions in bony skull development.ResultsWe disrupted Trip11 in neural crest‐derived cell populations, which are critical for developing skull in mice. In Trip11 mutant skulls, expression levels of ER stress markers were increased compared to controls. Morphological analysis of electron microscopy data revealed swollen ER in Trip11 mutant skulls. Unexpectedly, we also found that Golgi stress increased in Trip11 mutant skulls, suggesting that both ER and Golgi stress‐induced cell death may lead to osteopenia‐like phenotypes in Trip11 mutant skulls. These data suggest that Trip11 plays pivotal roles in the regulation of ER and Golgi stress, which are critical for osteogenic cell survival.ConclusionWe have recently reported that the molecular complex of ciliary protein and GMAP210 is required for collagen trafficking. In this paper, we further characterized the important role of Trip11 being possibly involved in the regulation of ER and Golgi stress during skull development.

2021-05-21·Advances in Clinical and Experimental Medicine4区 · 医学

Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

4区 · 医学

Review

作者: Stembalska, Agnieszka ; Śmigiel, Robert ; Dudarewicz, Lech

Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.