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

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Aliases & Descriptions for Feingold Syndrome:

Name: Feingold Syndrome 50 11 46 24 13 52 25 12
Oculodigitoesophagoduodenal Syndrome 22 46 23 68 37 66
Oded Syndrome 11 22 46 23 52
Feingold Syndrome 1 50 22 23 68
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 11 52 68
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 11 46 68
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 11 52
Oculo-Digito-Esophageal-Duodenal Syndrome 11 52
Feingold Syndrome Type 1 52 25
Brunner-Winter Syndrome 46 52
Moded Syndrome 11 52
Mmt Syndrome 46 68
Fglds1 52 68
Fglds 11 52
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 52
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 46
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 52
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 52
 
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 52
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 68
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 24
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 52
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 52
Microcephaly and Digital Abnormalities with Normal Intelligence 68
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 24
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 52
Oculo-Digito-Esophagoduodental Syndrome 24
Brunner-Winter Syndrome Type 1 52
Moded Syndrome Type 1 52
Oded Syndrome Type 1 52
Mmt Type 1 52
Moded 68
Oded 68
Fs1 52
Mmt 52
Fs 52

Characteristics:

Orphanet epidemiological data:

52
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:

62
feingold syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 164280
Disease Ontology11 DOID:0060464
ICD1028 Q87.8
ICD10 via Orphanet29 Q87.8
MedGen35 C0796068

Summaries for Feingold Syndrome

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OMIM:50 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 imperforate anus and feingold syndrome 2, 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 pancreas.

Disease Ontology:11 An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

Wikipedia:69 Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant... more...

GeneReviews summary for NBK7050

Related Diseases for Feingold Syndrome

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



Diseases related to feingold syndrome

Symptoms for Feingold Syndrome

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Symptoms by clinical synopsis from OMIM:

164280

Clinical features from OMIM:

164280

Symptoms:

 52 (show all 21)
  • oral cleft
  • microcephaly
  • micrognathia
  • sensorineural hearing impairment
  • anteverted nares
  • brachydactyly syndrome
  • intellectual disability
  • patent ductus arteriosus
  • annular pancreas
  • abnormality of the spleen
  • toe syndactyly
  • hallux valgus
  • esophageal atresia
  • duodenal atresia
  • abnormal form of the vertebral bodies
  • clinodactyly of the 5th finger
  • short stature
  • depressed nasal bridge
  • external ear malformation
  • deviation of the 2nd finger
  • short palpebral fissure

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 high palate HP:0000218
24 everted lower lip vermilion HP:0000232
25 small anterior fontanelle HP:0000237
26 microcephaly HP:0000252
27 prominent occiput HP:0000269
28 epicanthus HP:0000286
29 facial asymmetry HP:0000324
30 triangular face HP:0000325
31 micrognathia HP:0000347
32 posteriorly rotated ears HP:0000358
33 hearing impairment HP:0000365
34 low-set ears HP:0000369
35 wide nasal bridge HP:0000431
36 depressed nasal tip HP:0000437
37 anteverted nares HP:0000463
38 blepharophimosis HP:0000581
39 upslanted palpebral fissure HP:0000582
40 intellectual disability HP:0001249
41 specific learning disability HP:0001328
42 decreased fetal movement HP:0001558
43 polyhydramnios HP:0001561
44 vocal cord paralysis HP:0001605
45 patent ductus arteriosus HP:0001643
46 annular pancreas HP:0001734
47 asplenia HP:0001746
48 accessory spleen HP:0001747
49 polysplenia HP:0001748
50 short toe HP:0001831
51 esophageal atresia HP:0002032
52 duodenal atresia HP:0002247
53 tracheoesophageal fistula HP:0002575
54 aplasia/hypoplasia of the middle phalanx of the 5th finger HP:0009161
55 aplasia/hypoplasia of the middle phalanx of the 2nd finger HP:0009568
56 thick vermilion border HP:0012471
57 short palpebral fissure HP:0012745

UMLS symptoms related to Feingold Syndrome:


observation of narrowing of palpebral fissure

Drugs & Therapeutics for Feingold Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Feingold Syndrome


Cochrane evidence based reviews: oculodigitoesophagoduodenal syndrome

Genetic Tests for Feingold Syndrome

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Genetic tests related to Feingold Syndrome:

id Genetic test Affiliating Genes
1 Feingold Syndrome 125 23 MYCN
2 Feingold Syndrome25

Anatomical Context for Feingold Syndrome

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MalaCards organs/tissues related to Feingold Syndrome:

34
Spleen, Bone, Pancreas, Brain

Animal Models for Feingold Syndrome or affiliated genes

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Publications for Feingold Syndrome

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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
A Feingold syndrome case with previously undescribed features and a new mutation. (19852433)
2009
7
Cerebral and cerebellar white matter abnormalities with magnetic resonance imaging in a child with Feingold syndrome. (19921653)
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

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

68
id Symbol AA change Variation ID SNP ID
1MYCNp.Arg393HisVAR_031952rs104893646
2MYCNp.Arg393SerVAR_031953rs104893647
3MYCNp.Arg394HisVAR_031954rs104893648

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

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Search GEO for disease gene expression data for Feingold Syndrome.

Pathways for genes affiliated with Feingold Syndrome

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GO Terms for genes affiliated with Feingold Syndrome

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Sources for Feingold Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet