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 51 11 47 25 53 26 12 13
Oculodigitoesophagoduodenal Syndrome 23 47 24 69 38 67
Oded Syndrome 11 23 47 24 53
Feingold Syndrome 1 51 23 24 69
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 11 53 69
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 11 47 69
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 11 53
Oculo-Digito-Esophageal-Duodenal Syndrome 11 53
Feingold Syndrome Type 1 53 26
Brunner-Winter Syndrome 47 53
Moded Syndrome 11 53
Mmt Syndrome 47 69
Fglds1 53 69
Fglds 11 53
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 53
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 47
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 53
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 53
 
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 53
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 69
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 25
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 53
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 53
Microcephaly and Digital Abnormalities with Normal Intelligence 69
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 25
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 53
Oculo-Digito-Esophagoduodental Syndrome 25
Brunner-Winter Syndrome Type 1 53
Moded Syndrome Type 1 53
Oded Syndrome Type 1 53
Mmt Type 1 53
Moded 69
Oded 69
Fs1 53
Mmt 53
Fs 53

Characteristics:

Orphanet epidemiological data:

53
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:

63
feingold syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 164280
Disease Ontology11 DOID:0060464
ICD1029 Q87.8
ICD10 via Orphanet30 Q87.8
MedGen36 C0796068

Summaries for Feingold Syndrome

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OMIM:51 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 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.

Genetics Home Reference:25 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:69 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:70 Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant... more...

GeneReviews for NBK7050

Related Diseases for Feingold Syndrome

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Diseases in the Feingold Syndrome family:

Feingold Syndrome 2

Diseases related to Feingold Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1feingold syndrome 212.3
2lockwood feingold syndrome11.8
3familial osteochondritis dissecans11.0
4schizotypal personality disorder10.9
5osteochondritis dissecans10.9
6osteochondritis dissecans, short stature, and early-onset osteoarthritis10.8
7fanconi-bickel syndrome10.7
8maturity-onset diabetes of the young, type vii10.6
9spastic paraplegia 4, autosomal dominant10.6
10maturity-onset diabetes of the young 610.6
11hemochromatosis, type 410.6
12thyroid hormone resistance, selective pituitary10.6
13maturity-onset diabetes of the young, type 1410.6
14dementia, familial, nonspecific10.6
15crouzon syndrome with acanthosis nigricans10.6
16mody, type ii10.6
17hemochromatosis, type 310.6
18maturity-onset diabetes of the young, type ix10.6
19neuronopathy, distal hereditary motor, type i10.6
20myotonia congenita, recessive10.6
21myotonia congenita, dominant10.6
22microcephaly 1, primary, autosomal recessive10.6
23maturity-onset diabetes of the young, type 1110.6
24galactosemia10.6
25dystonia-1, torsion10.6
26maturity-onset diabetes of the young, type viii10.6
27hirschsprung disease 110.6
28deafness, autosomal recessive 1210.6
29thyroid cancer, nonmedullary, 510.6
30hyperproinsulinemia10.6
31maturity-onset diabetes of the young, type 1010.6
32maturity-onset diabetes of the young, type 1310.6
33mody, type iii10.6
34mody, type iv10.6
35spastic paraplegia 3a, autosomal dominant10.6
36microcephaly 4, primary, autosomal recessive10.6
37microcephaly 9, primary, autosomal recessive10.6
38convulsions, familial infantile, with paroxysmal choreoathetosis10.6
39neurodegeneration with brain iron accumulation 310.6
40mody, type i10.6
41cataract 9, multiple types10.6
42aicardi syndrome10.6
43hemochromatosis10.6
44autosomal dominant nonsyndromic deafness10.6
45autosomal recessive nonsyndromic deafness10.6
46x-linked nonsyndromic deafness10.6
47fox-fordyce disease10.6
48scurvy10.2
49chlamydia10.1
50trichomoniasis10.0

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

Human phenotypes related to Feingold Syndrome:

 63 53 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 blepharophimosis63 hallmark (90%) HP:0000581
3 brachydactyly syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0001156
4 clinodactyly of the 5th finger63 53 hallmark (90%) Very frequent (99-80%) HP:0004209
5 4-5 toe syndactyly63 86% HP:0004692
6 2-3 toe syndactyly63 56% HP:0004691
7 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
8 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
9 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
10 hallux valgus63 53 typical (50%) Frequent (79-30%) HP:0001822
11 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
12 depressed nasal bridge63 53 typical (50%) Frequent (79-30%) HP:0005280
13 external ear malformation63 53 typical (50%) Frequent (79-30%) HP:0008572
14 cognitive impairment63 typical (50%) HP:0100543
15 oral cleft63 53 occasional (7.5%) Occasional (29-5%) HP:0000202
16 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
17 patent ductus arteriosus63 53 occasional (7.5%) Occasional (29-5%) HP:0001643
18 annular pancreas63 53 occasional (7.5%) Occasional (29-5%) HP:0001734
19 abnormality of the spleen63 53 occasional (7.5%) Occasional (29-5%) HP:0001743
20 tracheoesophageal fistula63 occasional (7.5%) HP:0002575
21 abnormal form of the vertebral bodies63 53 occasional (7.5%) Occasional (29-5%) HP:0003312
22 duodenal stenosis63 occasional (7.5%) HP:0100867
23 high palate63 HP:0000218
24 everted lower lip vermilion63 HP:0000232
25 small anterior fontanelle63 HP:0000237
26 prominent occiput63 HP:0000269
27 epicanthus63 HP:0000286
28 facial asymmetry63 HP:0000324
29 triangular face63 HP:0000325
30 posteriorly rotated ears63 HP:0000358
31 hearing impairment63 HP:0000365
32 low-set ears63 HP:0000369
33 wide nasal bridge63 HP:0000431
34 depressed nasal tip63 HP:0000437
35 upslanted palpebral fissure63 HP:0000582
36 intellectual disability63 53 Frequent (79-30%) HP:0001249
37 specific learning disability63 HP:0001328
38 decreased fetal movement63 HP:0001558
39 polyhydramnios63 HP:0001561
40 vocal cord paralysis63 HP:0001605
41 asplenia63 HP:0001746
42 accessory spleen63 HP:0001747
43 polysplenia63 HP:0001748
44 short toe63 HP:0001831
45 esophageal atresia63 53 Occasional (29-5%) HP:0002032
46 duodenal atresia63 53 Occasional (29-5%) HP:0002247
47 aplasia/hypoplasia of the middle phalanx of the 5th finger63 HP:0009161
48 aplasia/hypoplasia of the middle phalanx of the 2nd finger63 HP:0009568
49 thick vermilion border63 HP:0012471
50 short palpebral fissure63 53 Very frequent (99-80%) HP:0012745
51 deviation of the 2nd finger53 Very frequent (99-80%)

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 126 24 MYCN
2 Feingold Syndrome26

Anatomical Context for Feingold Syndrome

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MalaCards organs/tissues related to Feingold Syndrome:

35
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:

69
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)SNVPathogenicrs104893646GRCh37Chr 2, 16086002: 16086002
2MYCNNM_005378.5(MYCN): c.1177C> A (p.Arg393Ser)SNVPathogenicrs104893647GRCh37Chr 2, 16086001: 16086001
3MYCNNM_005378.5(MYCN): c.1181G> A (p.Arg394His)SNVPathogenicrs104893648GRCh37Chr 2, 16086005: 16086005
4MYCNNM_005378.5(MYCN): c.231G> A (p.Trp77Ter)SNVPathogenicrs121913667GRCh37Chr 2, 16082417: 16082417
5MYCNNM_005378.5(MYCN): c.217G> T (p.Glu73Ter)SNVPathogenicrs113994115GRCh37Chr 2, 16082403: 16082403
6MYCNMYCN, 1-BP DUP, 626CduplicationPathogenicChr na, -1: -1
7MYCNNM_005378.5(MYCN): c.1145G> A (p.Arg382His)SNVPathogenicrs121913666GRCh37Chr 2, 16085969: 16085969
8MYCNNM_005378.5(MYCN): c.817G> T (p.Glu273Ter)SNVPathogenicrs886042150GRCh37Chr 2, 16085641: 16085641

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of gene expressionGO:00106289.2BMP10, MYCN

Sources for Feingold Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet