MCID: FNG006
MIFTS: 44

Feingold Syndrome 1

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

Aliases & Classifications for Feingold Syndrome 1

MalaCards integrated aliases for Feingold Syndrome 1:

Name: Feingold Syndrome 1 53 23 71 28
Feingold Syndrome 53 12 72 49 24 55 36 28 13 14
Oculodigitoesophagoduodenal Syndrome 53 23 49 71 41 69
Oded Syndrome 53 12 23 49 55
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 53 12 55 71
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 53 12 49 71
Mmt Syndrome 53 49 71
Fglds1 53 55 71
Microcephaly and Digital Abnormalities with Normal Intelligence 53 71
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 12 55
Oculo-Digito-Esophageal-Duodenal Syndrome 12 55
Brunner-Winter Syndrome 49 55
Moded Syndrome 12 55
Moded 53 71
Fglds 12 55
Oded 53 71
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 55
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 49
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 55
Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome 53
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 55
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 55
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 71
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 24
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 55
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 55
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome; Moded 53
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 24
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 55
Oculodigitoesophagoduodenal Syndrome; Oded 53
Oculo-Digito-Esophagoduodental Syndrome 24
Brunner-Winter Syndrome Type 1 55
Feingold Syndrome Type 1 55
Moded Syndrome Type 1 55
Oded Syndrome Type 1 55
Mmt Type 1 55
Mmt 55
Fs1 55
Fs 55

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
feingold syndrome 1:
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:



Summaries for Feingold Syndrome 1

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1305Disease definitionFeingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.Visit the Orphanet disease page for more resources. Last updated: 2/27/2014

MalaCards based summary : Feingold Syndrome 1, also known as feingold syndrome, is related to short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans and scheuermann disease, and has symptoms including intellectual disability, depressed nasal bridge and microcephaly. An important gene associated with Feingold Syndrome 1 is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor). Affiliated tissues include spleen, bone and pancreas.

OMIM : 53 Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. 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 in a minority of patients (summary by Teszas et al., 2006). (164280)

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 An autosomal dominant disease characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

GeneReviews: NBK7050

Related Diseases for Feingold Syndrome 1

Diseases in the Feingold Syndrome 1 family:

Feingold Syndrome 2

Diseases related to Feingold Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.2
2 scheuermann disease 11.0
3 feingold syndrome 2 11.0
4 osteochondritis dissecans 10.9
5 familial osteochondritis dissecans 10.9
6 schizotypal personality disorder 10.9
7 fanconi-bickel syndrome 10.7
8 anemia, congenital dyserythropoietic, type iii 10.6
9 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 10.6
10 brachyolmia type 3 10.6
11 collagenoma, familial cutaneous 10.6
12 maturity-onset diabetes of the young, type 1 10.6
13 maturity-onset diabetes of the young, type 2 10.6
14 dyschondrosteosis and nephritis 10.6
15 dystonia 1, torsion, autosomal dominant 10.6
16 laurin-sandrow syndrome 10.6
17 thyroid hormone resistance, selective pituitary 10.6
18 keratolytic winter erythema 10.6
19 microcephaly-deafness syndrome 10.6
20 cardiospondylocarpofacial syndrome 10.6
21 spastic paraplegia 3, autosomal dominant 10.6
22 spastic paraplegia 4, autosomal dominant 10.6
23 acrorenal-mandibular syndrome 10.6
24 acrofacial dysostosis syndrome of rodriguez 10.6
25 campomelia, cumming type 10.6
26 spinocerebellar ataxia, autosomal recessive 2 10.6
27 macular dystrophy, corneal 10.6
28 erythroderma, lethal congenital 10.6
29 galactose epimerase deficiency 10.6
30 hemochromatosis, type 1 10.6
31 kaufman oculocerebrofacial syndrome 10.6
32 marfanoid habitus with microcephaly and glomerulonephritis 10.6
33 microcephaly 1, primary, autosomal recessive 10.6
34 nephropathy, deafness, and hyperparathyroidism 10.6
35 renal dysplasia-limb defects syndrome 10.6
36 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 10.6
37 thymic-renal-anal-lung dysplasia 10.6
38 aicardi syndrome 10.6
39 pallister w syndrome 10.6
40 scarf syndrome 10.6
41 codas syndrome 10.6
42 maturity-onset diabetes of the young, type 3 10.6
43 frontotemporal dementia, chromosome 3-linked 10.6
44 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.6
45 osteoporosis and oculocutaneous hypopigmentation syndrome 10.6
46 convulsions, familial infantile, with paroxysmal choreoathetosis 10.6
47 corneal dystrophy, thiel-behnke type 10.6
48 rhyns syndrome 10.6
49 gracile bone dysplasia 10.6
50 cataract 9, multiple types 10.6

Graphical network of the top 20 diseases related to Feingold Syndrome 1:



Diseases related to Feingold Syndrome 1

Symptoms & Phenotypes for Feingold Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
hearing loss
posteriorly angulated ears

Cardiovascular Vascular:
patent ductus arteriosus

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Movement:
decreased fetal movement

Abdomen Pancreas:
annular pancreas

Head And Neck Mouth:
high-arched palate
prominent lips

Neurologic Central Nervous System:
mental retardation
learning disability (90% patients)

Skeletal Hands:
thumb symphalangism
absent/hypoplastic middle phalanx of 2nd finger
absent/hypoplastic middle phalanx of 5th finger

Head And Neck Face:
micrognathia
triangular face
facial asymmetry

Head And Neck Head:
prominent occiput
small anterior fontanelle
microcephaly (79% of cases)

Abdomen Gastroin testinal:
tracheoesophageal fistula
esophageal atresia
duodenal atresia

Respiratory Larynx:
vocal cord paralysis

Head And Neck Nose:
broad nasal bridge
anteverted nostrils
flat nasal tip

Head And Neck Eyes:
epicanthal folds
short palpebral fissures
upslanting palpebral fissures
narrow palpebral fissures

Abdomen Spleen:
supernumerary spleen
congenital asplenia

Skeletal Feet:
syndactyly of toes 2-3 (56%) and 4-5 (86%)
short toes


Clinical features from OMIM:

164280

Human phenotypes related to Feingold Syndrome 1:

55 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
2 depressed nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0005280
3 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
5 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
6 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
7 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
8 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
9 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
10 external ear malformation 55 31 frequent (33%) Frequent (79-30%) HP:0008572
11 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
12 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
13 abnormality of the spleen 55 31 occasional (7.5%) Occasional (29-5%) HP:0001743
14 hallux valgus 55 31 frequent (33%) Frequent (79-30%) HP:0001822
15 toe syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001770
16 oral cleft 55 31 occasional (7.5%) Occasional (29-5%) HP:0000202
17 esophageal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002032
18 annular pancreas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001734
19 duodenal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002247
20 short palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0012745
21 deviation of the 2nd finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009468
22 low-set ears 31 HP:0000369
23 high palate 31 HP:0000218
24 hearing impairment 31 HP:0000365
25 wide nasal bridge 31 HP:0000431
26 thick vermilion border 31 HP:0012471
27 epicanthus 31 HP:0000286
28 everted lower lip vermilion 31 HP:0000232
29 prominent occiput 31 HP:0000269
30 specific learning disability 31 HP:0001328
31 short toe 31 HP:0001831
32 upslanted palpebral fissure 31 HP:0000582
33 polyhydramnios 31 HP:0001561
34 blepharophimosis 31 HP:0000581
35 tracheoesophageal fistula 31 HP:0002575
36 decreased fetal movement 31 HP:0001558
37 triangular face 31 HP:0000325
38 vocal cord paralysis 31 HP:0001605
39 facial asymmetry 31 HP:0000324
40 asplenia 31 HP:0001746
41 accessory spleen 31 HP:0001747
42 depressed nasal tip 31 HP:0000437
43 2-3 toe syndactyly 31 very rare (1%) HP:0004691
44 posteriorly rotated ears 31 HP:0000358
45 polysplenia 31 HP:0001748
46 small anterior fontanelle 31 HP:0000237
47 aplasia/hypoplasia of the middle phalanx of the 2nd finger 31 HP:0009568
48 4-5 toe syndactyly 31 very rare (1%) HP:0004692
49 aplasia/hypoplasia of the middle phalanx of the 5th finger 31 HP:0009161

Drugs & Therapeutics for Feingold Syndrome 1

Search Clinical Trials , NIH Clinical Center for Feingold Syndrome 1

Cochrane evidence based reviews: oculodigitoesophagoduodenal syndrome

Genetic Tests for Feingold Syndrome 1

Genetic tests related to Feingold Syndrome 1:

# Genetic test Affiliating Genes
1 Feingold Syndrome 1 28 MYCN
2 Feingold Syndrome 28

Anatomical Context for Feingold Syndrome 1

MalaCards organs/tissues related to Feingold Syndrome 1:

38
Spleen, Bone, Pancreas

Publications for Feingold Syndrome 1

Articles related to Feingold Syndrome 1:

(show all 21)
# 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
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 1

UniProtKB/Swiss-Prot genetic disease variations for Feingold Syndrome 1:

71
# 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 1:

6 (show all 14)
# 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
9 MYCN NM_005378.5(MYCN): c.68_71dup (p.Gln25Alafs) duplication Pathogenic GRCh37 Chromosome 2, 16082254: 16082257
10 MYCN NM_005378.5(MYCN): c.902_903delTG (p.Val301Alafs) deletion Pathogenic GRCh37 Chromosome 2, 16085726: 16085727
11 MYCN NM_005378.5(MYCN): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic rs759103701 GRCh37 Chromosome 2, 16085788: 16085788
12 MYCN NM_005378.5(MYCN): c.1014C> A (p.Tyr338Ter) single nucleotide variant Pathogenic rs367962377 GRCh38 Chromosome 2, 15945716: 15945716
13 MYCN NM_005378.5(MYCN): c.1061_1062insC (p.Ser355Valfs) insertion Pathogenic GRCh37 Chromosome 2, 16085885: 16085886
14 MYCN NM_005378.5(MYCN): c.1181G> T (p.Arg394Leu) single nucleotide variant Likely pathogenic rs104893648 GRCh37 Chromosome 2, 16086005: 16086005

Expression for Feingold Syndrome 1

Search GEO for disease gene expression data for Feingold Syndrome 1.

Pathways for Feingold Syndrome 1

GO Terms for Feingold Syndrome 1

Sources for Feingold Syndrome 1

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7 CNVD
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16 ExPASy
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69 UMLS
70 UMLS via Orphanet
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