FGLDS1
MCID: FNG005
MIFTS: 42

Feingold Syndrome (FGLDS1) 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 52 11 48 25 54 27 12 13
Oculodigitoesophagoduodenal Syndrome 23 48 24 70 39 68
Oded Syndrome 11 23 48 24 54
Feingold Syndrome 1 52 23 24 70
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 11 54 70
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 11 48 70
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 11 54
Oculo-Digito-Esophageal-Duodenal Syndrome 11 54
Feingold Syndrome Type 1 54 27
Brunner-Winter Syndrome 48 54
Moded Syndrome 11 54
Mmt Syndrome 48 70
Fglds1 54 70
Fglds 11 54
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 54
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 48
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 54
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 54
 
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 70
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 54
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 25
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 54
Microcephaly and Digital Abnormalities with Normal Intelligence 70
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 54
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 25
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 54
Oculo-Digito-Esophagoduodental Syndrome 25
Brunner-Winter Syndrome Type 1 54
Moded Syndrome Type 1 54
Oded Syndrome Type 1 54
Mmt Type 1 54
Moded 70
Oded 70
Fs1 54
Mmt 54
Fs 54

Characteristics:

Orphanet epidemiological data:

54
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:

64
feingold syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: the penetrance for major features of fs1, especially digital abnormalities, seems to be 100% but clinical expression can vary considerably...


Classifications:



External Ids:

OMIM52 164280
Disease Ontology11 DOID:0060464
ICD1030 Q87.8
ICD10 via Orphanet31 Q87.8
MedGen37 C0796068

Summaries for Feingold Syndrome

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OMIM:52 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 Array, Array and Array. An important gene associated with Feingold Syndrome is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor). 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:70 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:71 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 93)
idRelated DiseaseScoreTop Affiliating Genes
1feingold syndrome 212.3
2lockwood feingold syndrome11.8
3familial osteochondritis dissecans10.9
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
20microcephaly 1, primary, autosomal recessive10.6
21maturity-onset diabetes of the young, type 1110.6
22galactosemia10.6
23dystonia-1, torsion10.6
24maturity-onset diabetes of the young, type viii10.6
25hirschsprung disease 110.6
26deafness, autosomal recessive 1210.6
27thyroid cancer, nonmedullary, 510.6
28hyperproinsulinemia10.6
29maturity-onset diabetes of the young, type 1010.6
30maturity-onset diabetes of the young, type 1310.6
31mody, type iii10.6
32mody, type iv10.6
33spastic paraplegia 3a, autosomal dominant10.6
34microcephaly 4, primary, autosomal recessive10.6
35microcephaly 9, primary, autosomal recessive10.6
36convulsions, familial infantile, with paroxysmal choreoathetosis10.6
37neurodegeneration with brain iron accumulation 310.6
38mody, type i10.6
39cataract 9, multiple types10.6
40aicardi syndrome10.6
41hemochromatosis10.6
42autosomal dominant nonsyndromic deafness10.6
43autosomal recessive nonsyndromic deafness10.6
44x-linked nonsyndromic deafness10.6
45robinow syndrome10.6
46hemochromatosis type 210.6
47q fever10.6
48fox-fordyce disease10.6
49kallmann syndrome10.6
50adult neuronal ceroid lipofuscinosis10.6

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



Diseases related to feingold syndrome

Symptoms & Phenotypes 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:

 54 64 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oral cleft64 54 Occasional (29-5%) HP:0000202
2 microcephaly64 54 Very frequent (99-80%) HP:0000252
3 micrognathia64 54 Frequent (79-30%) HP:0000347
4 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
5 anteverted nares64 54 Frequent (79-30%) HP:0000463
6 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
7 intellectual disability64 54 Frequent (79-30%) HP:0001249
8 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
9 annular pancreas64 54 Occasional (29-5%) HP:0001734
10 abnormality of the spleen64 54 Occasional (29-5%) HP:0001743
11 toe syndactyly64 54 Frequent (79-30%) HP:0001770
12 hallux valgus64 54 Frequent (79-30%) HP:0001822
13 esophageal atresia64 54 Occasional (29-5%) HP:0002032
14 duodenal atresia64 54 Occasional (29-5%) HP:0002247
15 abnormal form of the vertebral bodies64 54 Occasional (29-5%) HP:0003312
16 clinodactyly of the 5th finger64 54 Very frequent (99-80%) HP:0004209
17 short stature64 54 Frequent (79-30%) HP:0004322
18 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
19 external ear malformation64 54 Frequent (79-30%) HP:0008572
20 deviation of the 2nd finger64 54 Very frequent (99-80%) HP:0009468
21 short palpebral fissure64 54 Very frequent (99-80%) HP:0012745
22 high palate64 HP:0000218
23 everted lower lip vermilion64 HP:0000232
24 small anterior fontanelle64 HP:0000237
25 prominent occiput64 HP:0000269
26 epicanthus64 HP:0000286
27 facial asymmetry64 HP:0000324
28 triangular face64 HP:0000325
29 posteriorly rotated ears64 HP:0000358
30 hearing impairment64 HP:0000365
31 low-set ears64 HP:0000369
32 wide nasal bridge64 HP:0000431
33 depressed nasal tip64 HP:0000437
34 blepharophimosis64 HP:0000581
35 upslanted palpebral fissure64 HP:0000582
36 specific learning disability64 HP:0001328
37 decreased fetal movement64 HP:0001558
38 polyhydramnios64 HP:0001561
39 vocal cord paralysis64 HP:0001605
40 asplenia64 HP:0001746
41 accessory spleen64 HP:0001747
42 polysplenia64 HP:0001748
43 short toe64 HP:0001831
44 tracheoesophageal fistula64 HP:0002575
45 2-3 toe syndactyly64 HP:0004691
46 4-5 toe syndactyly64 HP:0004692
47 aplasia/hypoplasia of the middle phalanx of the 5th finger64 HP:0009161
48 aplasia/hypoplasia of the middle phalanx of the 2nd finger64 HP:0009568
49 thick vermilion border64 HP:0012471

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 127 24 MYCN
2 Feingold Syndrome27

Anatomical Context for Feingold Syndrome

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MalaCards organs/tissues related to Feingold Syndrome:

36
Spleen, Bone, Pancreas, Brain

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
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins. (18671284)
2008
9
Genotype-phenotype correlations in MYCN-related Feingold syndrome. (18470948)
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:

70
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, 626CduplicationPathogenic
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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Sources for Feingold Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet