|
AO1
MCID: ATL011
MIFTS: 42
|
Atelosteogenesis, Type I (AO1)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
|
|
|
|
||
MalaCards integrated aliases for Atelosteogenesis, Type I:
Characteristics:Inheritance:
Atelosteogenesis, Type I:
Autosomal dominant 57
Atelosteogenesis Type I:
Autosomal dominant 58
Prevelance:
Atelosteogenesis Type I:
<1/1000000 (Worldwide) 58
Age Of Onset:
Atelosteogenesis Type I:
Antenatal,Neonatal 58
Infantile Apnea:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
de novo mutation all cases have been stillborn or immediate neonatal death Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Respiratory diseases Bone diseases Neuronal diseases
ICD10:
32
Orphanet: 58
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
|
|
MedlinePlus Genetics: 42 Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure. MalaCards based summary: Atelosteogenesis, Type I, also known as atelosteogenesis type i, is related to atelosteogenesis and osteochondrodysplasia. An important gene associated with Atelosteogenesis, Type I is FLNB (Filamin B). The drugs Anesthetics and Analgesics, Opioid have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye, and related phenotypes are talipes equinovarus and brachydactyly OMIM®: 57 Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). (108720) (Updated 08-Dec-2022) Orphanet 58 Atelosteogenesis type i: A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Infantile apnea: Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. UniProtKB/Swiss-Prot: 73 A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. GARD: 19 A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Wikipedia 75 Atelosteogenesis type i: Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and... more... Infantile apnea: Infantile apnea is a rare disease that is characterized by cessation of breathing in an infant for at... more... |
Human phenotypes related to Atelosteogenesis, Type I:58 30 (show top 50) (show all 62)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:108720 (Updated 08-Dec-2022) |
Drugs for Atelosteogenesis, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
|
Organs/tissues related to Atelosteogenesis, Type I:
MalaCards :
Bone,
Heart,
Eye,
Skin,
Brain,
Colon
|
Articles related to Atelosteogenesis, Type I:(show top 50) (show all 112)
|
Genes related to Atelosteogenesis, Type I (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Atelosteogenesis, Type I:5 (show all 21)
UniProtKB/Swiss-Prot genetic disease variations for Atelosteogenesis, Type I:73
|
|
Search
GEO
for disease gene expression data for Atelosteogenesis, Type I.
|
|
|
|