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AO1
MCID: ATL011
MIFTS: 37
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Atelosteogenesis, Type I (AO1)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Atelosteogenesis, Type I:
Characteristics:Orphanet epidemiological data:60
atelosteogenesis type i
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation all cases have been stillborn or immediate neonatal death HPO:33
atelosteogenesis, type i:
Clinical modifier neonatal death stillbirth Inheritance autosomal dominant inheritance sporadic Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases
ICD10:
35
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NIH Rare Diseases
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54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1190Disease definitionAtelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.EpidemiologyAOI is a very rare infrequently described disorder.Clinical descriptionAffected neonates are stillborn or die rapidly after birth and present clinically with severe short-limbed dwarfism, dislocated hip, knee and elbow joints, club feet and if born alive have cardiorespiratory failure. Craniofacial dysmorphism describes a prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia (see these terms).EtiologyAtelosteogenesis I results from heterozygousmutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14.Diagnostic methods'Diagnosis can be confirmed from skeletal radiographs, chondro-osseous histopathology and genetic testing. Distinctive radiographic findings comprise severe platyspondyly, distally tapered; shortened, incomplete or absent humeri and femurs; shortened or bowed radii, ulnas, and tibias; hypoplastic pelvis and fibulas; and deficient ossification of the metacarpals, middle and proximal phalanges.'Differential diagnosisDifferential diagnosis comprises other skeletal dysplasias with severe short-limbed dwarfism such as campomelic dysplasia, Ellis-van Creveld syndrome, achondroplasia, metatropic dysplasia, Roberts syndrome, short rib-polydactyly syndrome, and thanatophoric dysplasia.. Other, differential diagnosis includes achondrogenesis, hypophosphatasia, and osteogenesis imperfecta (see these terms).Antenatal diagnosisPrenatal ultrasound can detect bone dysplasia and other manifestation and plays an important role in early detection and diagnosis. Prenatal ultrasound findings for AOI may include severe limb shortening and deficient ossification of the long bones, shortened flaring or absent humeri and femurs from 18 weeks onwards. Other skeletal abnormalities as well as some facial dysmorphic features may be detectable.Genetic counselingAll cases have been autosomal dominant and sporadic resulting from de novo mutations in FLNB.Management and treatmentPalliative care is offered to newborns suffering from AOI.PrognosisPrognosis is poor. Death is often due to a combination of pulmonary hypoplasia and tracheobronchomalacia early in life.Visit the Orphanet disease page for more resources.
MalaCards based summary : Atelosteogenesis, Type I, also known as giant cell chondrodysplasia, is related to larsen syndrome and infantile apnea. An important gene associated with Atelosteogenesis, Type I is FLNB (Filamin B). The drugs Capsaicin and Esketamine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and short neck Genetics Home Reference : 26 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. OMIM : 58 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) UniProtKB/Swiss-Prot : 76 Atelosteogenesis 1: 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. Wikipedia : 77 Atelosteogenesis type I is a rare autosomal dominant condition. This condition is evident at birth and... more... |
Diseases in the Atelosteogenesis family:
Diseases related to Atelosteogenesis, Type I via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Atelosteogenesis, Type I:
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Human phenotypes related to Atelosteogenesis, Type I:33 (show all 35)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:108720 |
Drugs for Atelosteogenesis, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 21)
Interventional clinical trials:
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MalaCards organs/tissues related to Atelosteogenesis, Type I:42
Bone,
Testes,
Eye
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Articles related to Atelosteogenesis, Type I:
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Genes related to Atelosteogenesis, Type I (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Atelosteogenesis, Type I:76
ClinVar genetic disease variations for Atelosteogenesis, Type I:6 (show all 22)
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Search
GEO
for disease gene expression data for Atelosteogenesis, Type I.
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