Acrofacial Dysostosis 1, Nager Type malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:
Orphanet epidemiological data:52
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:50 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, and has symptoms including micrognathia, hearing impairment and downslanted palpebral fissures. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4). Affiliated tissues include bone, uterus and skin.
Disease Ontology:11 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:24 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:46 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:68 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:69 Nager acrofacial dysostosis is a congenital anomaly syndrome. more...
Diseases related to Acrofacial Dysostosis 1, Nager Type via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of diseases related to Acrofacial Dysostosis 1, Nager Type:
Symptoms by clinical synopsis from OMIM:154400
Clinical features from OMIM:154400
Symptoms:52 (show all 29)
HPO human phenotypes related to Acrofacial Dysostosis 1, Nager Type:(show all 77)
MalaCards organs/tissues related to Acrofacial Dysostosis 1, Nager Type:34
Bone, Uterus, Skin, Heart, Eye
Search GEO for disease gene expression data for Acrofacial Dysostosis 1, Nager Type.
Cellular components related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:
Biological processes related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet