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

Aliases & Descriptions for Feingold Syndrome:

Name: Feingold Syndrome 54 12 50 25 56 29 13 14
Oculodigitoesophagoduodenal Syndrome 23 50 24 66 42 69
Oded Syndrome 12 23 50 24 56
Feingold Syndrome 1 54 23 24 66
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 12 56 66
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 12 50 66
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 12 56
Oculo-Digito-Esophageal-Duodenal Syndrome 12 56
Feingold Syndrome Type 1 56 29
Brunner-Winter Syndrome 50 56
Moded Syndrome 12 56
Mmt Syndrome 50 66
Fglds1 56 66
Fglds 12 56
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 56
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 50
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 56
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 56
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 56
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 66
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 25
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 56
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 56
Microcephaly and Digital Abnormalities with Normal Intelligence 66
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 25
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 56
Oculo-Digito-Esophagoduodental Syndrome 25
Brunner-Winter Syndrome Type 1 56
Moded Syndrome Type 1 56
Oded Syndrome Type 1 56
Mmt Type 1 56
Moded 66
Oded 66
Mmt 56
Fs1 56
Fs 56

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
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:

OMIM 54 164280
Disease Ontology 12 DOID:0060464
ICD10 33 Q87.8
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0796068

Summaries for Feingold Syndrome

OMIM : 54 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 intellectual disability, depressed nasal bridge and microcephaly. An important gene associated with Feingold Syndrome is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor). Affiliated tissues include spleen, bone and pancreas.

Disease Ontology : 12 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 : 66 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: NBK7050

Related Diseases for Feingold Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 feingold syndrome 2 12.3
2 lockwood feingold syndrome 11.8
3 familial osteochondritis dissecans 10.9
4 schizotypal personality disorder 10.9
5 osteochondritis dissecans 10.9
6 osteochondritis dissecans, short stature, and early-onset osteoarthritis 10.8
7 fanconi-bickel syndrome 10.7
8 mody, type ii 10.6
9 mody, type iv 10.6
10 hemochromatosis, type 3 10.6
11 autosomal dominant nonsyndromic deafness 10.6
12 maturity-onset diabetes of the young, type ix 10.6
13 spastic paraplegia 3a, autosomal dominant 10.6
14 autosomal recessive nonsyndromic deafness 10.6
15 neuronopathy, distal hereditary motor, type i 10.6
16 microcephaly 4, primary, autosomal recessive 10.6
17 x-linked nonsyndromic deafness 10.6
18 fox-fordyce disease 10.6
19 microcephaly 1, primary, autosomal recessive 10.6
20 microcephaly 9, primary, autosomal recessive 10.6
21 robinow syndrome 10.6
22 maturity-onset diabetes of the young, type 11 10.6
23 hemochromatosis type 2 10.6
24 maturity-onset diabetes of the young, type vii 10.6
25 galactosemia 10.6
26 convulsions, familial infantile, with paroxysmal choreoathetosis 10.6
27 spastic paraplegia 4, autosomal dominant 10.6
28 dystonia-1, torsion 10.6
29 neurodegeneration with brain iron accumulation 3 10.6
30 maturity-onset diabetes of the young 6 10.6
31 maturity-onset diabetes of the young, type viii 10.6
32 mody, type i 10.6
33 hemochromatosis, type 4 10.6
34 hirschsprung disease 1 10.6
35 cataract 9, multiple types 10.6
36 deafness, autosomal recessive 12 10.6
37 aicardi syndrome 10.6
38 adult neuronal ceroid lipofuscinosis 10.6
39 thyroid hormone resistance, selective pituitary 10.6
40 thyroid cancer, nonmedullary, 5 10.6
41 hemochromatosis 10.6
42 maturity-onset diabetes of the young, type 14 10.6
43 hyperproinsulinemia 10.6
44 dementia, familial, nonspecific 10.6
45 maturity-onset diabetes of the young, type 10 10.6
46 kallmann syndrome 10.6
47 maturity-onset diabetes of the young, type 13 10.6
48 q fever 10.6
49 crouzon syndrome with acanthosis nigricans 10.6
50 mody, type iii 10.6

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



Diseases related to Feingold Syndrome

Symptoms & Phenotypes for Feingold Syndrome

Symptoms by clinical synopsis from OMIM:

164280

Clinical features from OMIM:

164280

Human phenotypes related to Feingold Syndrome:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Frequent (79-30%) HP:0001249
2 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
3 microcephaly 56 32 Very frequent (99-80%) HP:0000252
4 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
5 anteverted nares 56 32 Frequent (79-30%) HP:0000463
6 short stature 56 32 Frequent (79-30%) HP:0004322
7 micrognathia 56 32 Frequent (79-30%) HP:0000347
8 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
9 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
10 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
11 brachydactyly syndrome 56 32 Very frequent (99-80%) HP:0001156
12 abnormality of the spleen 56 32 Occasional (29-5%) HP:0001743
13 hallux valgus 56 32 Frequent (79-30%) HP:0001822
14 toe syndactyly 56 32 Frequent (79-30%) HP:0001770
15 external ear malformation 56 32 Frequent (79-30%) HP:0008572
16 oral cleft 56 32 Occasional (29-5%) HP:0000202
17 esophageal atresia 56 32 Occasional (29-5%) HP:0002032
18 annular pancreas 56 32 Occasional (29-5%) HP:0001734
19 duodenal atresia 56 32 Occasional (29-5%) HP:0002247
20 short palpebral fissure 56 32 Very frequent (99-80%) HP:0012745
21 deviation of the 2nd finger 56 32 Very frequent (99-80%) HP:0009468
22 low-set ears 32 HP:0000369
23 high palate 32 HP:0000218
24 hearing impairment 32 HP:0000365
25 wide nasal bridge 32 HP:0000431
26 thick vermilion border 32 HP:0012471
27 epicanthus 32 HP:0000286
28 everted lower lip vermilion 32 HP:0000232
29 prominent occiput 32 HP:0000269
30 short toe 32 HP:0001831
31 upslanted palpebral fissure 32 HP:0000582
32 polyhydramnios 32 HP:0001561
33 specific learning disability 32 HP:0001328
34 blepharophimosis 32 HP:0000581
35 tracheoesophageal fistula 32 HP:0002575
36 decreased fetal movement 32 HP:0001558
37 triangular face 32 HP:0000325
38 vocal cord paralysis 32 HP:0001605
39 facial asymmetry 32 HP:0000324
40 asplenia 32 HP:0001746
41 accessory spleen 32 HP:0001747
42 depressed nasal tip 32 HP:0000437
43 2-3 toe syndactyly 32 HP:0004691
44 polysplenia 32 HP:0001748
45 posteriorly rotated ears 32 HP:0000358
46 aplasia/hypoplasia of the middle phalanx of the 2nd finger 32 HP:0009568
47 4-5 toe syndactyly 32 HP:0004692
48 aplasia/hypoplasia of the middle phalanx of the 5th finger 32 HP:0009161
49 small anterior fontanelle 32 HP:0000237

Drugs & Therapeutics for Feingold Syndrome

Search Clinical Trials , NIH Clinical Center for Feingold Syndrome

Cochrane evidence based reviews: oculodigitoesophagoduodenal syndrome

Genetic Tests for Feingold Syndrome

Genetic tests related to Feingold Syndrome:

id Genetic test Affiliating Genes
1 Feingold Syndrome 1 29 24 MYCN
2 Feingold Syndrome 29

Anatomical Context for Feingold Syndrome

MalaCards organs/tissues related to Feingold Syndrome:

39
Spleen, Bone, Pancreas, Brain

Publications for Feingold Syndrome

Articles related to Feingold Syndrome:

(show all 21)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 MYCN p.Arg393His VAR_031952 rs104893646
2 MYCN p.Arg393Ser VAR_031953 rs104893647
3 MYCN p.Arg394His VAR_031954 rs104893648

ClinVar genetic disease variations for Feingold Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYCN NM_005378.5(MYCN): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs104893646 GRCh37 Chromosome 2, 16086002: 16086002
2 MYCN NM_005378.5(MYCN): c.1177C> A (p.Arg393Ser) single nucleotide variant Pathogenic rs104893647 GRCh37 Chromosome 2, 16086001: 16086001
3 MYCN NM_005378.5(MYCN): c.1181G> A (p.Arg394His) single nucleotide variant Pathogenic rs104893648 GRCh37 Chromosome 2, 16086005: 16086005
4 MYCN NM_005378.5(MYCN): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs121913667 GRCh37 Chromosome 2, 16082417: 16082417
5 MYCN NM_005378.5(MYCN): c.217G> T (p.Glu73Ter) single nucleotide variant Pathogenic rs113994115 GRCh37 Chromosome 2, 16082403: 16082403
6 MYCN MYCN, 1-BP DUP, 626C duplication Pathogenic
7 MYCN NM_005378.5(MYCN): c.1145G> A (p.Arg382His) single nucleotide variant Pathogenic rs121913666 GRCh37 Chromosome 2, 16085969: 16085969
8 MYCN NM_005378.5(MYCN): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic rs886042150 GRCh37 Chromosome 2, 16085641: 16085641

Expression for Feingold Syndrome

Search GEO for disease gene expression data for Feingold Syndrome.

Pathways for Feingold Syndrome

GO Terms for Feingold Syndrome

Sources for Feingold Syndrome

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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