106:. In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in defects similar to the human disease. When their DNA was sequenced, human patients with achondrogenesis type 1A also had loss-of-function mutations in GMAP-210. GMAP-210 moves proteins from the endoplasmic reticulum to the Golgi apparatus. Because of the defect, GMAP-210 is not able to move the proteins, and they remain in the endoplasmic reticulum, which swells up. The loss of Golgi apparatus function affects some cells, such as those responsible for forming bone and cartilage, more than others.
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99:. These types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. Other types of achondrogenesis may exist, but they have not been characterized or their cause is unknown.
80:). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of their serious health problems, infants with achondrogenesis are usually born
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88:, or die shortly after birth from respiratory failure. Some infants, however, have lived for a while with intensive medical support.
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Lethal skeletal dysplasia in mice and humans lacking the GolginGMAP-210, Patrick Smits et al., N Engl J Med, 362:206, Jan. 21, 2010
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Researchers have described at least three forms of achondrogenesis, designated as
Achondrogenesis type 1A,
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Achondrogenesis type 1B is caused by a similar mutation in SLC26A2, which encodes a sulfate transporter.
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Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the
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Postmortem anteroposterior (A) and lateral (B) whole-body radiographs of the baby.
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Achondrogenesis type 1A is caused by a defect in the microtubules of the
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is a number of disorders that are the most severe form of
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146:This article incorporates public domain text from
663:Autosomal recessive multiple epiphyseal dysplasia
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367:Spondyloepiphyseal dysplasia congenita
344:Jansen's metaphyseal chondrodysplasia
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148:The U.S. National Library of Medicine
691:Rhizomelic chondrodysplasia punctata
377:Otospondylomegaepiphyseal dysplasia
349:Schmid metaphyseal chondrodysplasia
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118:gene. Achondrogenesis, type 2 and
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765:
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717:Short rib – polydactyly syndrome
722:Majewski's polydactyly syndrome
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1:
496:Hereditary multiple exostoses
440:Polyostotic fibrous dysplasia
372:Multiple epiphyseal dysplasia
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729:Léri–Weill dyschondrosteosis
7:
10:
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696:Conradi–Hünermann syndrome
321:Camurati–Engelmann disease
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683:Chondrodysplasia punctata
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668:Atelosteogenesis, type II
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445:McCune–Albright syndrome
593:Thanatophoric dysplasia
93:achondrogenesis type 1B
562:Antley–Bixler syndrome
544:Growth factor receptor
291:Osteochondrodysplasias
97:achondrogenesis type 2
673:Diastrophic dysplasia
339:Metaphyseal dysplasia
754:Congenital disorders
712:Fibrochondrogenesis
490:osteochondromatosis
428:Boomerang dysplasia
630:Hypochondrogenesis
234:External resources
120:hypochondrogenesis
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586:Hypochondroplasia
532:Maffucci syndrome
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72:(malformation of
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16:Medical condition
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643:sulfation defect
610:collagen disease
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521:enchondromatosis
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466:chondrodystrophy
461:Chondrodysplasia
435:Opsismodysplasia
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70:chondrodysplasia
47:Medical genetics
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651:Achondrogenesis
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618:Achondrogenesis
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414:Other/ungrouped
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400:Osteopoikilosis
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104:Golgi apparatus
63:Achondrogenesis
22:Achondrogenesis
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581:Achondroplasia
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527:Ollier disease
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481:Osteochondroma
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304:osteodystrophy
299:Osteodysplasia
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162:Classification
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512:enchondroma
469:(including
243:MedlinePlus
82:prematurely
331:Metaphysis
219:DiseasesDB
126:References
67:congenital
508:Chondroma
359:Epiphysis
313:Diaphysis
86:stillborn
78:cartilage
42:Specialty
748:Category
471:dwarfism
656:type 1B
640:SLC26A2
213:C579878
623:type 2
607:COL2A1
248:001247
202:200600
199:200610
196:600972
115:COL2A1
84:, are
56:Common
53:Deaths
572:FGFR3
553:FGFR2
224:33350
185:Q77.0
74:bones
422:FLNB
208:MeSH
191:OMIM
95:and
76:and
176:ICD
750::
246::
222::
211::
194::
183::
180:10
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510:/
473:)
463:/
301:/
283:e
276:t
269:v
178:-
168:D
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
