Details of Disease

General Information of Disease (ID: DIS2QY8I)

Disease Name Feingold syndrome type 1
Synonyms
microcephaly, mental retardation, and tracheoesophageal fistula syndrome; Feingold syndrome 1; microcephaly-oculo-digito-esophageal-duodenal syndrome; oculodigitoesophagoduodenal syndrome; Feingold syndrome; microcephaly, intellectual disability, and tracheoesophageal fistula syndrome; digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum; Oded syndrome; microcephaly and digital abnormalities with normal intelligence; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; Mmt syndrome; oculo-digito-esophageal-duodenal syndrome type 1; microcephaly-digital anomalies-normal intelligence syndrome type 1; Feingold syndrome type 1; MYCN Feingold syndrome; MODED syndrome type 1; microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; ODED syndrome type 1; digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; MMT type 1; FS1; FGLDS1; Feingold syndrome caused by mutation in MYCN; Brunner-Winter syndrome type 1
Definition Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.
Disease Hierarchy
DIS18KX1: Feingold syndrome
DIS2QY8I: Feingold syndrome type 1
Disease Identifiers
MONDO ID
MONDO_0008115
UMLS CUI
C4551774
OMIM ID
164280
MedGen ID
1637716
Orphanet ID
391641

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYCN TT9JBY5 Definitive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYCN OTWD33K1 Definitive Autosomal dominant [1]
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References

1 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.