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	feingold syndrome

Disease ID	380
Disease	feingold syndrome
Definition	A rare autosomal dominant syndrome caused by mutations in the MYNC oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia.
Synonym	brunner winter syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum feingold syndrome 1 fglds1 microcephaly and digital abnormalities with normal intelligence microcephaly, mental retardation, and tracheoesophageal fistula syndrome microcephaly-mesobrachyphalangy-tracheoesophageal fistula (mmt) syndrome microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome microcephaly-oculo-digito-esophageal-duodenal (moded) syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) microcephaly-oculo-digito-oesophageal-duodenal syndrome mmt syndrome moded oculo-digito-esophagoduodenal syndrome oculo-digito-esophagoduodental (oded) syndrome oculo-digito-oesophagoduodenal syndrome oculodigitoesophagoduodenal syndrome oded oded syndrome
Orphanet	ORPHANET:1305 ORPHANET:391641
OMIM	OMIM:164280
DOID	DOID:0060464
UMLS	C0796068
SNOMED-CT	SNOMEDCT_US_2016_09_01:702431004
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4613 \| MYCN \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:13) 55636 \| CHD7 \| 2.268 \| DISEASES 5611 \| DNAJC3 \| 3.81 \| DISEASES 23348 \| DOCK9 \| 4.188 \| DISEASES 2187 \| FANCB \| 2.996 \| DISEASES 2571 \| GAD1 \| 1.907 \| DISEASES 407975 \| MIR17HG \| 5.018 \| DISEASES 10408 \| MYCNOS \| 4.081 \| DISEASES 10763 \| NES \| 2.358 \| DISEASES 3084 \| NRG1 \| 1.794 \| DISEASES 146713 \| RBFOX3 \| 1.563 \| DISEASES 860 \| RUNX2 \| 1.309 \| DISEASES 6657 \| SOX2 \| 1.366 \| DISEASES 8428 \| STK24 \| 2.658 \| DISEASES
Locus	(Waiting for update.)

Disease ID	380
Disease	feingold syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:21) HP:0000202 \| Oral cleft HP:0003312 \| Abnormal form of the vertebral bodies HP:0000347 \| Micrognathia HP:0001822 \| Hallux valgus HP:0004322 \| Short stature HP:0000463 \| Anteverted nares HP:0000252 \| Microcephaly HP:0001734 \| Annular pancreas HP:0002247 \| Duodenal atresia HP:0001770 \| Toe syndactyly HP:0001249 \| Intellectual disability HP:0001643 \| Patent ductus arteriosus HP:0005280 \| Depressed nasal bridge HP:0012745 \| Short palpebral fissure HP:0008572 \| External ear malformation HP:0002032 \| Esophageal atresia HP:0000407 \| Sensorineural hearing impairment HP:0009468 \| Deviation of the 2nd finger HP:0004209 \| Clinodactyly of the 5th finger HP:0001743 \| Abnormality of the spleen HP:0001156 \| Brachydactyly syndrome
Text Mined Phenotype	(Waiting for update.)

Disease ID	380
Disease	feingold syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0025958 \| microcephaly C0021828 \| intestinal atresia C0003466 \| imperforate anus
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
MYCN	Het del whole gene	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
MYCN	-	doi:10.1038/gim.2015.51	Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893646	NA	4613	MYCN	umls:C0796068	CLINVAR	NA	0.481357209	NA	MYCN	2	15945880	G	A
rs104893647	NA	4613	MYCN	umls:C0796068	CLINVAR	NA	0.481357209	NA	MYCN	2	15945879	C	A
rs104893648	NA	4613	MYCN	umls:C0796068	CLINVAR	NA	0.481357209	NA	MYCN	2	15945883	G	A
rs113994115	NA	4613	MYCN	umls:C0796068	CLINVAR	NA	0.481357209	NA	MYCN;MYCNOS	2	15942281	G	T
rs121913666	NA	4613	MYCN	umls:C0796068	CLINVAR	NA	0.481357209	NA	MYCN	2	15945847	G	A
rs121913667	NA	4613	MYCN	umls:C0796068	CLINVAR	NA	0.481357209	NA	MYCN;MYCNOS	2	15942295	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:11)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001743	Abnormality of the spleen	MP:0004485	increased response of heart to induced stress	increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
HP:0001643	Patent ductus arteriosus	MP:0011662	persistent truncus arteriosus type ii	complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro
HP:0000202	Oral cleft	MP:0009890	cleft secondary palate	congenital fissure of the tissues normally uniting to form the secondary palate
HP:0008572	External ear malformation	MP:0006286	inner ear hypoplasia	underdevelopment or reduced size of inner ear structures, usually due to decreased cell number
HP:0000407	Sensorineural hearing impairment	MP:0006330	syndromic hearing impairment	hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0004209	Clinodactyly of the 5th finger	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0003312	Abnormal form of the vertebral bodies	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0005280	Depressed nasal bridge	MP:0013582	abnormal lateral nasal gland morphology	any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d
HP:0002032	Esophageal atresia	MP:0009510	cecal atresia	congenital blockage or absence of the lumen of the cecum
HP:0002247	Duodenal atresia	MP:0003130	anal atresia	congenital absence of an anal opening due to the persistence of the epithelial plug (persistence of the anal membrane) or to complete absence of the anal canal
HP:0001770	Toe syndactyly	MP:0000564	syndactyly	any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone

Mapped by homologous gene(Total Items:20)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000407	Sensorineural hearing impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001822	Hallux valgus	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000202	Oral cleft	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0001770	Toe syndactyly	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002032	Esophageal atresia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0004209	Clinodactyly of the 5th finger	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0008572	External ear malformation	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001743	Abnormality of the spleen	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0012745	Short palpebral fissure	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002247	Duodenal atresia	MP:0013767	decreased palatal rugae number	reduced number of transverse folds (ridges) of the mucosa located on the anterior third part of the secondary (hard) palate of most mammalian species
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000463	Anteverted nares	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005280	Depressed nasal bridge	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000252	Microcephaly	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001156	Brachydactyly syndrome	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000347	Micrognathia	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0003312	Abnormal form of the vertebral bodies	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001643	Patent ductus arteriosus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001734	Annular pancreas	MP:0012740	abnormal posterior primitive streak morphology	any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm

Disease ID	380
Disease	feingold syndrome
Case	(Waiting for update.)