Details of Disease

General Information of Disease (ID: DIS9WQOT)

Disease Name Nager acrofacial dysostosis
Synonyms
AFD; preaxial manibulofacial dysostosis; preaxial acrofacial dysostosis; mandibulofacial dysostosis, Treacher Collins type, with limb anomalies; split hand deformity-mandibulofacial dysostosis; AFD1; AFD, Nager type; NAFD; Nager acrofacial dysostosis syndrome; Nager Syndrome; mandibulofacial dysostosis with preaxial limb anomalies; acrofacial dysostosis 1, Nager type; preaxial acrodysostosis; Nager acrofacial dysostosis; Nager syndrome
Definition
Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DIS9A5IP: SF3B4-related acrofacial dysostosis
DIS9WQOT: Nager acrofacial dysostosis
Disease Identifiers
MONDO ID
MONDO_0007943
MESH ID
C538184
UMLS CUI
C0265245
OMIM ID
154400
MedGen ID
120519
Orphanet ID
245
SNOMED CT ID
35520007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SNRPB OT3UJ4ZU moderate Altered Expression [1]
PRRX2 OT8UR4AU Strong Genetic Variation [2]
SF3B4 OTGB9OR9 Definitive Autosomal dominant [3]
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References

1 A review of craniofacial disorders caused by spliceosomal defects.Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.
2 Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome.Mamm Genome. 2000 Nov;11(11):1000-5. doi: 10.1007/s003350010193.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.