MCID: FNG006
MIFTS: 45

Feingold Syndrome 1

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

Aliases & Classifications for Feingold Syndrome 1

MalaCards integrated aliases for Feingold Syndrome 1:

Name: Feingold Syndrome 1 57 24 75 29 6
Feingold Syndrome 57 12 76 53 25 59 37 29 13 15
Oculodigitoesophagoduodenal Syndrome 57 24 53 75 44 73
Oded Syndrome 57 12 24 53 59
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 57 12 59 75
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 57 12 53 75
Mmt Syndrome 57 53 75
Fglds1 57 59 75
Microcephaly and Digital Abnormalities with Normal Intelligence 57 75
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 12 59
Oculo-Digito-Esophageal-Duodenal Syndrome 12 59
Brunner-Winter Syndrome 53 59
Moded Syndrome 12 59
Moded 57 75
Fglds 12 59
Oded 57 75
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 59
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 53
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 59
Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome 57
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 59
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 59
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 75
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 25
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 59
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 59
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome; Moded 57
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 25
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 59
Oculodigitoesophagoduodenal Syndrome; Oded 57
Oculo-Digito-Esophagoduodental Syndrome 25
Brunner-Winter Syndrome Type 1 59
Feingold Syndrome, Type 1 40
Feingold Syndrome Type 1 59
Moded Syndrome Type 1 59
Oded Syndrome Type 1 59
Mmt Type 1 59
Mmt 59
Fs1 59
Fs 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
feingold syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 53 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.

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 feingold syndrome 2. An important gene associated with Feingold Syndrome 1 is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor). Affiliated tissues include spleen, bone and pancreas, and related phenotypes are intellectual disability and depressed nasal bridge

OMIM : 57 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 : 75 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 : 25 Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.

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

Wikipedia : 76 Feingold syndrome (also called oculodigitoesophagoduodenal syndrome) is a rare autosomal dominant... more...

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 135)
# 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 feingold syndrome 2 11.0
3 osteochondritis dissecans 10.9
4 familial osteochondritis dissecans 10.9
5 schizotypal personality disorder 10.9
6 scheuermann disease 10.7
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 bangstad syndrome 10.6
26 campomelia, cumming type 10.6
27 spinocerebellar ataxia, autosomal recessive 2 10.6
28 macular dystrophy, corneal 10.6
29 erythroderma, lethal congenital 10.6
30 galactose epimerase deficiency 10.6
31 galactosemia 10.6
32 hemochromatosis, type 1 10.6
33 kaufman oculocerebrofacial syndrome 10.6
34 marfanoid habitus with microcephaly and glomerulonephritis 10.6
35 microcephaly 1, primary, autosomal recessive 10.6
36 nephropathy, deafness, and hyperparathyroidism 10.6
37 renal dysplasia-limb defects syndrome 10.6
38 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 10.6
39 thymic-renal-anal-lung dysplasia 10.6
40 aicardi syndrome 10.6
41 wilson-turner x-linked mental retardation syndrome 10.6
42 pallister w syndrome 10.6
43 scarf syndrome 10.6
44 codas syndrome 10.6
45 maturity-onset diabetes of the young, type 3 10.6
46 frontotemporal dementia, chromosome 3-linked 10.6
47 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.6
48 osteoporosis and oculocutaneous hypopigmentation syndrome 10.6
49 convulsions, familial infantile, with paroxysmal choreoathetosis 10.6
50 corneal dystrophy, thiel-behnke type 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:

57
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 Gastrointestinal:
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

AbdomenSpleen:
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:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
5 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
9 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
10 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
11 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
12 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
13 abnormality of the spleen 59 32 occasional (7.5%) Occasional (29-5%) HP:0001743
14 hallux valgus 59 32 frequent (33%) Frequent (79-30%) HP:0001822
15 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
16 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
17 esophageal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002032
18 annular pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001734
19 duodenal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002247
20 short palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0012745
21 deviation of the 2nd finger 59 32 hallmark (90%) 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 specific learning disability 32 HP:0001328
31 short toe 32 HP:0001831
32 upslanted palpebral fissure 32 HP:0000582
33 polyhydramnios 32 HP:0001561
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 very rare (1%) HP:0004691
44 posteriorly rotated ears 32 HP:0000358
45 polysplenia 32 HP:0001748
46 small anterior fontanelle 32 HP:0000237
47 aplasia/hypoplasia of the middle phalanx of the 2nd finger 32 HP:0009568
48 4-5 toe syndactyly 32 very rare (1%) HP:0004692
49 aplasia/hypoplasia of the middle phalanx of the 5th finger 32 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 29 MYCN
2 Feingold Syndrome 29

Anatomical Context for Feingold Syndrome 1

MalaCards organs/tissues related to Feingold Syndrome 1:

41
Spleen, Bone, Pancreas, Brain

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
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
Feingold syndrome: microcephaly, esophageal atresia, type III laryngeal cleft, malrotation, limb anomalies. ( 15329739 )
2004
15
Familial syndromic duodenal atresia: Feingold syndrome. ( 15185158 )
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:

75
# 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 27)
# 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.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs104893646 GRCh38 Chromosome 2, 15945880: 15945880
3 MYCN NM_005378.5(MYCN): c.1177C> A (p.Arg393Ser) single nucleotide variant Pathogenic rs104893647 GRCh37 Chromosome 2, 16086001: 16086001
4 MYCN NM_005378.5(MYCN): c.1177C> A (p.Arg393Ser) single nucleotide variant Pathogenic rs104893647 GRCh38 Chromosome 2, 15945879: 15945879
5 MYCN NM_005378.5(MYCN): c.1181G> A (p.Arg394His) single nucleotide variant Pathogenic rs104893648 GRCh37 Chromosome 2, 16086005: 16086005
6 MYCN NM_005378.5(MYCN): c.1181G> A (p.Arg394His) single nucleotide variant Pathogenic rs104893648 GRCh38 Chromosome 2, 15945883: 15945883
7 MYCN NM_005378.5(MYCN): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs121913667 GRCh37 Chromosome 2, 16082417: 16082417
8 MYCN NM_005378.5(MYCN): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs121913667 GRCh38 Chromosome 2, 15942295: 15942295
9 MYCN NM_005378.5(MYCN): c.217G> T (p.Glu73Ter) single nucleotide variant Pathogenic rs113994115 GRCh37 Chromosome 2, 16082403: 16082403
10 MYCN NM_005378.5(MYCN): c.217G> T (p.Glu73Ter) single nucleotide variant Pathogenic rs113994115 GRCh38 Chromosome 2, 15942281: 15942281
11 MYCN MYCN, 1-BP DUP, 626C duplication Pathogenic
12 MYCN NM_005378.5(MYCN): c.1145G> A (p.Arg382His) single nucleotide variant Pathogenic rs121913666 GRCh37 Chromosome 2, 16085969: 16085969
13 MYCN NM_005378.5(MYCN): c.1145G> A (p.Arg382His) single nucleotide variant Pathogenic rs121913666 GRCh38 Chromosome 2, 15945847: 15945847
14 MYCN NM_005378.5(MYCN): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic rs886042150 GRCh37 Chromosome 2, 16085641: 16085641
15 MYCN NM_005378.5(MYCN): c.817G> T (p.Glu273Ter) single nucleotide variant Pathogenic rs886042150 GRCh38 Chromosome 2, 15945519: 15945519
16 MYCN NM_005378.5(MYCN): c.68_71dup (p.Gln25Alafs) duplication Pathogenic GRCh38 Chromosome 2, 15942132: 15942135
17 MYCN NM_005378.5(MYCN): c.68_71dup (p.Gln25Alafs) duplication Pathogenic GRCh37 Chromosome 2, 16082254: 16082257
18 MYCN NM_005378.5(MYCN): c.902_903delTG (p.Val301Alafs) deletion Pathogenic GRCh37 Chromosome 2, 16085726: 16085727
19 MYCN NM_005378.5(MYCN): c.902_903delTG (p.Val301Alafs) deletion Pathogenic GRCh38 Chromosome 2, 15945604: 15945605
20 MYCN NM_005378.5(MYCN): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic rs759103701 GRCh38 Chromosome 2, 15945666: 15945666
21 MYCN NM_005378.5(MYCN): c.964C> T (p.Arg322Ter) single nucleotide variant Pathogenic rs759103701 GRCh37 Chromosome 2, 16085788: 16085788
22 MYCN NM_005378.5(MYCN): c.1014C> A (p.Tyr338Ter) single nucleotide variant Pathogenic rs367962377 GRCh37 Chromosome 2, 16085838: 16085838
23 MYCN NM_005378.5(MYCN): c.1014C> A (p.Tyr338Ter) single nucleotide variant Pathogenic rs367962377 GRCh38 Chromosome 2, 15945716: 15945716
24 MYCN NM_005378.5(MYCN): c.1061_1062insC (p.Ser355Valfs) insertion Pathogenic GRCh37 Chromosome 2, 16085885: 16085886
25 MYCN NM_005378.5(MYCN): c.1061_1062insC (p.Ser355Valfs) insertion Pathogenic GRCh38 Chromosome 2, 15945763: 15945764
26 MYCN NM_005378.5(MYCN): c.1181G> T (p.Arg394Leu) single nucleotide variant Likely pathogenic rs104893648 GRCh37 Chromosome 2, 16086005: 16086005
27 MYCN NM_005378.5(MYCN): c.1181G> T (p.Arg394Leu) single nucleotide variant Likely pathogenic rs104893648 GRCh38 Chromosome 2, 15945883: 15945883

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

Biological processes related to Feingold Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 8.62 FGF19 MYCN

Molecular functions related to Feingold Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 binding GO:0005488 8.62 DOCK9 NBAS

Sources for Feingold Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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