Feingold syndrome 1

Preferred Label : Feingold syndrome 1;

Symbol : FGLDS1;

CISMeF acronym : FGLDS1; MODED; ODED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oded syndrome; Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; ODED; Microcephaly and digital abnormalities with normal intelligence; Oculodigitoesophagoduodenal syndrome; Feingold syndrome; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Microcephaly, mental retardation, and tracheoesophageal fistula syndrome; MODED; Mmt syndrome;

Description : Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). - Genetic Heterogeneity of Feingold Syndrome Feingold syndrome-2 (FGLDS2; 614326) is caused by hemizygous deletion of the MIR17HG gene (609415) on chromosome 13q31.3.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN, 164840.0001);

Prefixed ID : #164280;

Details

Origin ID

164280;

UMLS CUI

C4551774;

Automatic exact mappings (from CISMeF team)
- MYCN wt Allele [NCIt concept]
- Mode [NCIt concept]
- Mode [NCIt concept]
- Population Mode [NCIt concept]
- Sample Mode [NCIt concept]
Currated CISMeF NLP mapping
- Feingold Syndrome [NCIt concept]
- Feingold syndrome [DO Concept]
- Feingold syndrome [MedDRA LLT]
- Feingold syndrome [ORDO Disease]
- Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) [SNOMED CT concept]
- Oculo-digito-esophageal-duodenal syndrome [MedDRA LLT]
- Oculo-digito-oesophageal-duodenal syndrome [ICD-11 More detail]
- Oculo-digito-oesophageal-duodenal syndrome [MedDRA Preferred Term]
- Oculodigitoesophagoduodenal syndrome [MeSH concept]
- oculodigitoesophagoduodenal syndrome [Disease (Nov.)]
- oculodigitoesophagoduodenal syndrome [MeSH Supplementary Concept]
DO Cross reference
- Feingold syndrome [DO Concept]
Genes related to phenotype
- Mycn protooncogene, bhlh transcription factor [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- 4-5 toe syndactyly [HPO term]
- Accessory spleen [HPO term]
- Annular pancreas [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 2nd finger [HPO term]
- Aplasia/Hypoplasia of the middle phalanx of the 5th finger [HPO term]
- Asplenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Decreased fetal movement [HPO term]
- Depressed nasal tip [HPO term]
- Duodenal atresia [HPO term]
- Epicanthus [HPO term]
- Esophageal atresia [HPO term]
- Everted lower lip vermilion [HPO term]
- Facial asymmetry [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Hypoplasia of the toes [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow palpebral fissure [HPO term]
- Patent ductus arteriosus [HPO term]
- Polyhydramnios [HPO term]
- Polysplenia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent lips [HPO term]
- Prominent occiput [HPO term]
- Short palpebral fissure [HPO term]
- Short toe [HPO term]
- Small anterior fontanelle [HPO term]
- Specific learning disability [HPO term]
- Thick vermilion border [HPO term]
- Tracheoesophageal fistula [HPO term]
- Triangular face [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vocal cord paralysis [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Feingold syndrome [ORDO Disease]
- Feingold syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Feingold Syndrome [NCIt concept]
- Feingold syndrome [ORDO Disease]
- Feingold syndrome [DO Concept]
- Feingold syndrome type 1 [MedDRA LLT]
- Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) [SNOMED CT concept]
- Oculodigitoesophagoduodenal syndrome [MeSH concept]
- oculodigitoesophagoduodenal syndrome [MeSH Supplementary Concept]
- oculodigitoesophagoduodenal syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Feingold syndrome type 1 [ORDO Disease]

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