MCID: FNG005
MIFTS: 43

Feingold Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Feingold Syndrome

About this section

Aliases & Descriptions for Feingold Syndrome:

Name: Feingold Syndrome 49 10 11 45 23 12 51 24
Oculodigitoesophagoduodenal Syndrome 21 45 22 67 65
Oded Syndrome 10 21 45 22 51
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 10 51 67
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 10 45 67
Feingold Syndrome 1 21 22 67
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 10 51
Oculo-Digito-Esophageal-Duodenal Syndrome 10 51
Feingold Syndrome Type 1 51 24
Brunner-Winter Syndrome 45 51
Moded Syndrome 10 51
Mmt Syndrome 45 67
Fglds1 51 67
Fglds 10 51
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 51
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 45
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 51
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 51
 
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 67
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 51
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 23
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 51
Microcephaly and Digital Abnormalities with Normal Intelligence 67
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 51
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 23
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 51
Oculo-Digito-Esophagoduodental Syndrome 23
Brunner-Winter Syndrome Type 1 51
Moded Syndrome Type 1 51
Oded Syndrome Type 1 51
Mmt Type 1 51
Moded 67
Oded 67
Fs1 51
Mmt 51
Fs 51

Characteristics:

Orphanet epidemiological data:

51
feingold syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
feingold syndrome type 1:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adult

HPO:

61
feingold syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 164280
Disease Ontology10 DOID:0060464
ICD1027 Q87.8
Orphanet51 1305, 391641
ICD10 via Orphanet28 Q87.8
MedGen34 C0796068
UMLS65 C0796068

Summaries for Feingold Syndrome

About this section
OMIM:49 Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb... (164280) more...

MalaCards based summary: Feingold Syndrome, also known as oculodigitoesophagoduodenal syndrome, is related to feingold syndrome 2 and lockwood feingold syndrome, and has symptoms including microcephaly, blepharophimosis and brachydactyly syndrome. An important gene associated with Feingold Syndrome is MYCN (V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog). Affiliated tissues include spleen, bone and endothelial.

Disease Ontology:10 An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

Genetics Home Reference:23 Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

UniProtKB/Swiss-Prot:67 Feingold syndrome 1: A syndrome characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, mental retardation, and limb malformations. 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.

Wikipedia:68 Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant... more...

GeneReviews summary for NBK7050

Related Diseases for Feingold Syndrome

About this section

Graphical network of the top 20 diseases related to Feingold Syndrome:



Diseases related to feingold syndrome

Symptoms for Feingold Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

164280

Clinical features from OMIM:

164280

Symptoms:

 51 (show all 23)
  • microcephaly
  • blepharophimosis/short palpebral fissures
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • autosomal dominant inheritance
  • micrognathia/retrognathia/micrognathism/retrognathism
  • depressed nasal bridge
  • anteverted nares/nostrils
  • external ear anomalies
  • syndactyly of toes
  • hallux valgus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • cleft lip and palate
  • sensorineural deafness/hearing loss
  • abnormal vertebral size/shape
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • duodenal atresia/stenosis/megaduodenum
  • annular pancreas
  • structural and functional anomalies of the spleen
  • patent ductus arteriosus
  • insterstitial/subtelomeric microdeletion/deletion

HPO human phenotypes related to Feingold Syndrome:

(show all 57)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 blepharophimosis hallmark (90%) HP:0000581
3 brachydactyly syndrome hallmark (90%) HP:0001156
4 clinodactyly of the 5th finger hallmark (90%) HP:0004209
5 4-5 toe syndactyly 86% HP:0004692
6 2-3 toe syndactyly 56% HP:0004691
7 micrognathia typical (50%) HP:0000347
8 anteverted nares typical (50%) HP:0000463
9 toe syndactyly typical (50%) HP:0001770
10 hallux valgus typical (50%) HP:0001822
11 short stature typical (50%) HP:0004322
12 depressed nasal bridge typical (50%) HP:0005280
13 external ear malformation typical (50%) HP:0008572
14 cognitive impairment typical (50%) HP:0100543
15 oral cleft occasional (7.5%) HP:0000202
16 sensorineural hearing impairment occasional (7.5%) HP:0000407
17 patent ductus arteriosus occasional (7.5%) HP:0001643
18 annular pancreas occasional (7.5%) HP:0001734
19 abnormality of the spleen occasional (7.5%) HP:0001743
20 tracheoesophageal fistula occasional (7.5%) HP:0002575
21 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
22 duodenal stenosis occasional (7.5%) HP:0100867
23 short palpebral fissure HP:0012745
24 thick vermilion border HP:0012471
25 aplasia/hypoplasia of the middle phalanx of the 2nd finger HP:0009568
26 aplasia/hypoplasia of the middle phalanx of the 5th finger HP:0009161
27 tracheoesophageal fistula HP:0002575
28 duodenal atresia HP:0002247
29 esophageal atresia HP:0002032
30 short toe HP:0001831
31 polysplenia HP:0001748
32 accessory spleen HP:0001747
33 asplenia HP:0001746
34 annular pancreas HP:0001734
35 patent ductus arteriosus HP:0001643
36 vocal cord paralysis HP:0001605
37 polyhydramnios HP:0001561
38 decreased fetal movement HP:0001558
39 specific learning disability HP:0001328
40 intellectual disability HP:0001249
41 upslanted palpebral fissure HP:0000582
42 blepharophimosis HP:0000581
43 anteverted nares HP:0000463
44 depressed nasal tip HP:0000437
45 wide nasal bridge HP:0000431
46 low-set ears HP:0000369
47 hearing impairment HP:0000365
48 posteriorly rotated ears HP:0000358
49 micrognathia HP:0000347
50 triangular face HP:0000325
51 facial asymmetry HP:0000324
52 epicanthus HP:0000286
53 prominent occiput HP:0000269
54 microcephaly HP:0000252
55 small anterior fontanelle HP:0000237
56 everted lower lip vermilion HP:0000232
57 high palate HP:0000218

UMLS symptoms related to Feingold Syndrome:


observation of narrowing of palpebral fissure

Drugs & Therapeutics for Feingold Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Feingold Syndrome

Genetic Tests for Feingold Syndrome

About this section

Genetic tests related to Feingold Syndrome:

id Genetic test Affiliating Genes
1 Feingold Syndrome 122 MYCN

Anatomical Context for Feingold Syndrome

About this section

MalaCards organs/tissues related to Feingold Syndrome:

33
Spleen, Bone, Endothelial, Pancreas, Prostate, Trachea, Monocytes

Animal Models for Feingold Syndrome or affiliated genes

About this section

Publications for Feingold Syndrome

About this section

Articles related to Feingold Syndrome:

(show all 21)
idTitleAuthorsYear
1
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2. (26026879)
2015
2
A fourth case of Feingold syndrome type 2: psychiatric presentation and management. (25391829)
2014
3
A de novo 4.4-Mb microdeletion in 2p24.3 a89 p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome. (22842076)
2012
4
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. (21224895)
2011
5
Duodenal atresia: consider Feingold syndrome. (20415994)
2010
6
Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome. (19921653)
2009
7
A Feingold syndrome case with previously undescribed features and a new mutation. (19852433)
2009
8
Genotype-phenotype correlations in MYCN-related Feingold syndrome. (18470948)
2008
9
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins. (18671284)
2008
10
Expanding the clinical spectrum of MYCN-related Feingold syndrome. (16906565)
2006
11
Vertebral defects in a patient with Feingold syndrome. (16155427)
2005
12
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. (15821734)
2005
13
Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature. (15930908)
2005
14
Familial syndromic duodenal atresia: Feingold syndrome. (15185158)
2004
15
Feingold syndrome: microcephaly, esophageal atresia, type III laryngeal cleft, malrotation, limb anomalies. (15329739)
2004
16
Feingold syndrome: clinical review and genetic mapping. (14518066)
2003
17
Imperforate anus in Feingold syndrome. (10817649)
2000
18
Feingold syndrome--a cause of profound deafness. (10664710)
1999
19
Feingold syndrome: report of a new family and review. (9375923)
1997
20
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome? (9096751)
1997
21
Feingold Syndrome 1 (20301770)
1993

Variations for Feingold Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Feingold Syndrome:

67
id Symbol AA change Variation ID SNP ID
1MYCNp.Arg393HisVAR_031952
2MYCNp.Arg393SerVAR_031953
3MYCNp.Arg394HisVAR_031954

Clinvar genetic disease variations for Feingold Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYCNNM_005378.5(MYCN): c.1178G> A (p.Arg393His)single nucleotide variantPathogenicrs104893646GRCh37Chr 2, 16086002: 16086002
2MYCNNM_005378.5(MYCN): c.1177C> A (p.Arg393Ser)single nucleotide variantPathogenicrs104893647GRCh37Chr 2, 16086001: 16086001
3MYCNNM_005378.5(MYCN): c.1181G> A (p.Arg394His)single nucleotide variantPathogenicrs104893648GRCh37Chr 2, 16086005: 16086005
4MYCNNM_005378.5(MYCN): c.231G> A (p.Trp77Ter)single nucleotide variantPathogenicrs121913667GRCh37Chr 2, 16082417: 16082417
5MYCNNM_005378.5(MYCN): c.217G> T (p.Glu73Ter)single nucleotide variantPathogenicrs113994115GRCh37Chr 2, 16082403: 16082403
6MYCNMYCN, 1-BP DUP, 626CduplicationPathogenic
7MYCNNM_005378.5(MYCN): c.1145G> A (p.Arg382His)single nucleotide variantPathogenicrs121913666GRCh37Chr 2, 16085969: 16085969

Expression for genes affiliated with Feingold Syndrome

About this section
Search GEO for disease gene expression data for Feingold Syndrome.

Pathways for genes affiliated with Feingold Syndrome

About this section

GO Terms for genes affiliated with Feingold Syndrome

About this section

Biological processes related to Feingold Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of gene expressionGO:00106289.5BMP10, MYCN

Sources for Feingold Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet