AO2
MCID: ATL015
MIFTS: 42
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Atelosteogenesis, Type Ii (AO2)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Atelosteogenesis, Type Ii:
Characteristics:Inheritance:
Atelosteogenesis, Type Ii:
Autosomal recessive 57
Atelosteogenesis Type Ii:
Autosomal recessive 58
Prevelance:
Atelosteogenesis Type Ii:
<1/1000000 (Worldwide) 58
Age Of Onset:
Atelosteogenesis Type Ii:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to diastrophic dysplasia , achondrogenesis, type 1b , and multiple epiphyseal dysplasia, type 4 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases Respiratory diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support. MalaCards based summary: Atelosteogenesis, Type Ii, also known as de la chapelle dysplasia, is related to atelosteogenesis and diastrophic dysplasia. An important gene associated with Atelosteogenesis, Type Ii is SLC26A2 (Solute Carrier Family 26 Member 2). Affiliated tissues include bone, lung and respiratory system-lung, and related phenotypes are short neck and abnormal facial shape GARD: 19 Atelosteogenesis type 2 is a genetic disorder that affects cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. The signs and symptoms of Atelosteogenesis type 2 include an opening in the roof of the mouth (a cleft palate), characteristic facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). Orphanet: 58 A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. UniProtKB/Swiss-Prot: 73 A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. Wikipedia: 75 Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is rare, and... more...
GeneReviews:
NBK1317
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Human phenotypes related to Atelosteogenesis, Type Ii:58 30 (show top 50) (show all 70)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:256050 (Updated 08-Dec-2022) |
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Organs/tissues related to Atelosteogenesis, Type Ii:
MalaCards :
Bone,
Lung
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Articles related to Atelosteogenesis, Type Ii:(show top 50) (show all 103)
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ClinVar genetic disease variations for Atelosteogenesis, Type Ii:5 (show top 50) (show all 440)
UniProtKB/Swiss-Prot genetic disease variations for Atelosteogenesis, Type Ii:73
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Search
GEO
for disease gene expression data for Atelosteogenesis, Type Ii.
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