Acrofacial Dysostosis 1, Nager Type malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 67UniProtKB/Swiss-Prot, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy
acrofacial dysostosis 1, nager type:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases
OMIM:49 Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs),... (154400) more...
MalaCards based summary: Acrofacial Dysostosis 1, Nager Type, also known as nager syndrome, is related to acrofacial dysostosis palagonia type and acrofacial dysostosis, catania type, and has symptoms including hypoplasia of the zygomatic bone, skeletal dysplasia and neurological speech impairment. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4). Affiliated tissues include bone, lung and eye.
Disease Ontology:10 An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.
Genetics Home Reference:23 Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.
NIH Rare Diseases:45 Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. the signs and symptoms of nager acrofacial dysostosis vary among affected individuals, even among those in the same family. treatment is tailored to the individual based upon their specific needs. this condition is caused by mutations in the sf3b4 gene. while most cases are sporadic (occurring in families with no prior history of the disorder), autosomal dominant and autosomal recessive inheritance have been reported. last updated: 2/25/2014
UniProtKB/Swiss-Prot:67 Acrofacial dysostosis 1, Nager type: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.
Wikipedia:68 Nager acrofacial dysostosis is a congenital anomaly syndrome. more...
Symptoms by clinical synopsis from OMIM:154400
Clinical features from OMIM:154400
Symptoms:51 (show all 30)
HPO human phenotypes related to Acrofacial Dysostosis 1, Nager Type:(show all 77)
MalaCards organs/tissues related to Acrofacial Dysostosis 1, Nager Type:33
Bone, Lung, Eye, Kidney, Skin, Uterus
MGI Mouse Phenotypes related to Acrofacial Dysostosis 1, Nager Type:38
Clinvar genetic disease variations for Acrofacial Dysostosis 1, Nager Type:5 (show all 23)
Search GEO for disease gene expression data for Acrofacial Dysostosis 1, Nager Type.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet