Acrofacial Dysostosis 1, Nager Type malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:
Orphanet epidemiological data:53
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:51 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:25 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:47 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:69 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:70 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 12)
Graphical network of diseases related to Acrofacial Dysostosis 1, Nager Type:
Human phenotypes related to Acrofacial Dysostosis 1, Nager Type:63 53 (show all 77)
MalaCards organs/tissues related to Acrofacial Dysostosis 1, Nager Type:35
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:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet