MCID: FNG006
MIFTS: 40

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 54 23 24 71 29
Feingold Syndrome 12 50 25 56 29 13 14
Oculodigitoesophagoduodenal Syndrome 23 50 24 71 42 69
Oded Syndrome 12 23 50 24 56
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 12 56 71
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 12 50 71
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 12 56
Oculo-Digito-Esophageal-Duodenal Syndrome 12 56
Brunner-Winter Syndrome 50 56
Moded Syndrome 12 56
Mmt Syndrome 50 71
Fglds1 56 71
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 71
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 71
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
Feingold Syndrome Type 1 56
Moded Syndrome Type 1 56
Oded Syndrome Type 1 56
Mmt Type 1 56
Moded 71
Oded 71
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;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
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 : 50 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 feingold syndrome 2 and lockwood feingold syndrome, and has symptoms including short stature, microcephaly and micrognathia. An important gene associated with Feingold Syndrome 1 is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor). Affiliated tissues include spleen, pancreas and bone.

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 : 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.

OMIM : 54
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)

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 : 72 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 144)
id Related Disease Score Top Affiliating Genes
1 feingold syndrome 2 12.3
2 lockwood feingold syndrome 11.8
3 familial osteochondritis dissecans 11.0
4 osteochondritis dissecans 10.8
5 osteochondritis dissecans, short stature, and early-onset osteoarthritis 10.8
6 schizotypal personality disorder 10.8
7 scheuermann disease 10.6
8 fanconi-bickel syndrome 10.6
9 maturity-onset diabetes of the young, type ix 10.5
10 brachyolmia type 3 10.5
11 aicardi syndrome 10.5
12 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 10.5
13 brachyolmia 10.5
14 fitzsimmons-guilbert syndrome 10.5
15 maturity-onset diabetes of the young, type vii 10.5
16 laurin-sandrow syndrome 10.5
17 kaufman oculocerebrofacial syndrome 10.5
18 nephropathy, deafness, and hyperparathyroidism 10.5
19 robinow syndrome 10.5
20 fox-fordyce disease 10.5
21 fryns hofkens fabry syndrome 10.5
22 spastic paraplegia 4, autosomal dominant 10.5
23 microcephaly 1, primary, autosomal recessive 10.5
24 mody, type iii 10.5
25 hemochromatosis 10.5
26 osteoporosis and oculocutaneous hypopigmentation syndrome 10.5
27 reducing body myopathy 10.5
28 harrod doman keele syndrome 10.5
29 maturity-onset diabetes of the young 6 10.5
30 maturity-onset diabetes of the young, type 11 10.5
31 mody, type iv 10.5
32 pallister w syndrome 10.5
33 hemochromatosis type 2 10.5
34 hydrocephalus obesity hypogonadism 10.5
35 hemochromatosis, type 4 10.5
36 keratolytic winter erythema 10.5
37 thiopurines, poor metabolism of, 2 10.5
38 dyserythropoietic anemia, congenital, type iii 10.5
39 metaphyseal dysostosis, mental retardation, and conductive deafness 10.5
40 galactosemia 10.5
41 microcephaly-deafness syndrome 10.5
42 thyroid hormone resistance, selective pituitary 10.5
43 dystonia-1, torsion 10.5
44 spastic paraplegia 3a, autosomal dominant 10.5
45 scarf syndrome 10.5
46 lubinsky syndrome 10.5
47 maturity-onset diabetes of the young, type 14 10.5
48 maturity-onset diabetes of the young, type viii 10.5
49 microcephaly 4, primary, autosomal recessive 10.5
50 acrorenal-mandibular syndrome 10.5

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:

54

Head And Neck- Mouth:
high-arched palate
prominent lips

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

Head And Neck- Face:
micrognathia
triangular face
facial asymmetry

Cardiovascular- Vascular:
patent ductus arteriosus

Abdomen- Gastroin testinal:
duodenal atresia
tracheoesophageal fistula
esophageal atresia

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

Abdomen- Pancreas:
annular pancreas

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

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

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

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

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

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

Respiratory- Larynx:
vocal cord paralysis

Abdomen- Spleen:
supernumerary spleen
congenital asplenia

Prenatal Manifestations- Movement:
decreased fetal movement


Clinical features from OMIM:

164280

Human phenotypes related to Feingold Syndrome 1:

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
3 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
4 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
5 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
6 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
7 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
8 toe syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001770
9 hallux valgus 56 32 frequent (33%) Frequent (79-30%) HP:0001822
10 duodenal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002247
11 annular pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0001734
12 esophageal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002032
13 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
14 short palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0012745
15 oral cleft 56 32 occasional (7.5%) Occasional (29-5%) HP:0000202
16 external ear malformation 56 32 frequent (33%) Frequent (79-30%) HP:0008572
17 abnormal form of the vertebral bodies 56 32 occasional (7.5%) Occasional (29-5%) HP:0003312
18 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
19 abnormality of the spleen 56 32 occasional (7.5%) Occasional (29-5%) HP:0001743
20 deviation of the 2nd finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009468
21 brachydactyly 32 hallmark (90%) HP:0001156
22 low-set ears 32 HP:0000369
23 polyhydramnios 32 HP:0001561
24 posteriorly rotated ears 32 HP:0000358
25 wide nasal bridge 32 HP:0000431
26 triangular face 32 HP:0000325
27 high palate 32 HP:0000218
28 blepharophimosis 32 HP:0000581
29 small anterior fontanelle 32 HP:0000237
30 prominent occiput 32 HP:0000269
31 facial asymmetry 32 HP:0000324
32 vocal cord paralysis 32 HP:0001605
33 tracheoesophageal fistula 32 HP:0002575
34 decreased fetal movement 32 HP:0001558
35 epicanthus 32 HP:0000286
36 polysplenia 32 HP:0001748
37 asplenia 32 HP:0001746
38 accessory spleen 32 HP:0001747
39 depressed nasal tip 32 HP:0000437
40 2-3 toe syndactyly 32 very rare (1%) HP:0004691
41 hearing impairment 32 HP:0000365
42 everted lower lip vermilion 32 HP:0000232
43 thick vermilion border 32 HP:0012471
44 short toe 32 HP:0001831
45 upslanted palpebral fissure 32 HP:0000582
46 brachydactyly syndrome 56 Very frequent (99-80%)
47 specific learning disability 32 HP:0001328
48 aplasia/hypoplasia of the middle phalanx of the 2nd finger 32 HP:0009568
49 aplasia/hypoplasia of the middle phalanx of the 5th finger 32 HP:0009161
50 4-5 toe syndactyly 32 very rare (1%) HP:0004692

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:

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

Anatomical Context for Feingold Syndrome 1

MalaCards organs/tissues related to Feingold Syndrome 1:

39
Spleen, Pancreas, Bone

Publications for Feingold Syndrome 1

Articles related to Feingold Syndrome 1:

id Title Authors Year
1
Feingold Syndrome 1 ( 20301770 )
1993

Variations for Feingold Syndrome 1

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

71
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 1:

6 (show all 14)
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
9 MYCN NM_005378.5(MYCN): c.68_71dup (p.Gln25Alafs) duplication Pathogenic GRCh38 Chromosome 2, 15942132: 15942135
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 GRCh38 Chromosome 2, 15945666: 15945666
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....