FGLDS1
MCID: FNG006
MIFTS: 55

Feingold Syndrome 1 (FGLDS1)

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

Aliases & Classifications for Feingold Syndrome 1

MalaCards integrated aliases for Feingold Syndrome 1:

Name: Feingold Syndrome 1 56 24 73 29 6
Feingold Syndrome 56 12 74 52 25 58 36 29 13 15
Oculodigitoesophagoduodenal Syndrome 56 24 52 73 43 71
Oded Syndrome 56 12 24 52 58
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum 56 12 58 73
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 56 12 52 73
Brunner-Winter Syndrome 52 25 58
Mmt Syndrome 56 52 73
Fglds1 56 58 73
Microcephaly and Digital Abnormalities with Normal Intelligence 56 73
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome 12 58
Oculo-Digito-Esophageal-Duodenal Syndrome 12 58
Moded Syndrome 12 58
Moded 56 73
Fglds 12 58
Oded 56 73
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus or Duodenum Type 1 58
Digital Anomalies with Short Palpebral Fissures and Atresia of Esophagus, or Duodenum 52
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 58
Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome 56
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome 58
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 58
Microcephaly Mental Retardation and Tracheoesophageal Fistula Syndrome 73
Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome 25
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 58
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome 58
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome; Moded 56
Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome 25
Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 58
Oculodigitoesophagoduodenal Syndrome; Oded 56
Oculo-Digito-Esophagoduodental Syndrome 25
Brunner-Winter Syndrome Type 1 58
Feingold Syndrome, Type 1 39
Feingold Syndrome Type 1 58
Moded Syndrome Type 1 58
Oded Syndrome Type 1 58
Mmt Type 1 58
Mmt 58
Fs1 58
Fs 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal dominant


HPO:

31
feingold syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance The penetrance for major features of fs1, especially digital abnormalities, appears to be 100% but clinical expression can vary considerably.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Feingold Syndrome 1

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. Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes. Additional common features of both types of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disabilities. Less often, affected individuals have hearing loss, short stature, or kidney or heart abnormalities. People with Feingold syndrome type 1 are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Individuals with type 2 do not have gastrointestinal atresias.

MalaCards based summary : Feingold Syndrome 1, also known as feingold syndrome, is related to heart septal defect and patent ductus arteriosus 1. An important gene associated with Feingold Syndrome 1 is MYCN (MYCN Proto-Oncogene, BHLH Transcription Factor), and among its related pathways/superpathways are DNA Damage Response and MicroRNAs in cancer. Affiliated tissues include heart, small intestine and kidney, and related phenotypes are microcephaly and brachydactyly

Disease Ontology : 12 A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1305 Definition Feingold 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.

OMIM : 56 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)

KEGG : 36 Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant trait. Recently, individuals sharing the skeletal abnormalities of FGLDS but lacking mutations in MYCN, were found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2).

UniProtKB/Swiss-Prot : 73 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 : 74 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 2189)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.2 RNU4ATAC MIR17 CHD7
2 patent ductus arteriosus 1 29.8 TEF FOXF1 CHD7
3 rectum cancer 29.6 MIR92A1 MIR20A MIR17
4 duodenal atresia 29.5 TEF RNU4ATAC MYCN MTHFSD FOXF1
5 atrial heart septal defect 29.3 RNU4ATAC FOXF1 CHD7
6 choanal atresia, posterior 29.2 TEF CHD7
7 intestinal atresia 29.2 TEF MTHFSD FOXF1
8 ventricular septal defect 29.2 MYCN MIR17 FOXF1
9 upper respiratory tract disease 29.1 MIR363 MIR20A MIR19A MIR17
10 intestinal disease 29.1 MIR92A1 MIR23B MIR20A MIR19A MIR18A MIR17
11 leukemia, chronic myeloid 29.1 MIR20A MIR19B1 MIR19A MIR18A MIR17
12 gastrointestinal system disease 29.0 MIR92A1 MIR23B MIR20A MIR19A MIR18A MIR17
13 thyroid gland anaplastic carcinoma 29.0 MIR19A MIR18A MIR17
14 breast disease 29.0 MIR92A1 MIR20A MIR18A MIR17
15 esophageal atresia 29.0 TEF MYCN GLI3 FOXF1 CHD7
16 vacterl association 28.7 TEF MTHFSD FOXF1 CHD7
17 physical disorder 28.7 RNU4ATAC GLI3 CHD7
18 connective tissue disease 28.7 RNU4ATAC MIR23B MIR18A MIR17
19 leukemia, chronic lymphocytic 28.7 MIR92A1 MIR23B MIR20A MIR19A MIR17HG MIR17
20 lymphoma, non-hodgkin, familial 28.6 MYCN MIR92A1 MIR23B MIR20A MIR17
21 prostate disease 28.6 MIR92A1 MIR23B MIR20A MIR18A MIR17
22 dysostosis 28.5 RNU4ATAC NBAS GLI3
23 diaphragmatic hernia, congenital 28.3 TEF GLI3 FOXF1
24 reproductive system disease 28.3 MIR92A1 MIR23B MIR20A MIR19B1 MIR18A MIR17
25 anus, imperforate 28.2 TEF MTHFSD GLI3 FOXF1 CHD7
26 medulloblastoma 28.0 MYCNOS MYCN MIR20A MIR19A MIR18A MIR17HG
27 brain cancer 27.9 MYCN MIR19A MIR18A MIR17 GLI3 CHD7
28 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.4
29 hemochromatosis, type 1 11.3
30 scheuermann disease 11.3
31 feingold syndrome 2 11.3
32 osteoglophonic dysplasia 11.2
33 osteochondritis dissecans 11.2
34 familial osteochondritis dissecans 11.2
35 alport syndrome 11.2
36 giardiasis 11.2
37 myotonic dystrophy 11.2
38 endocardial fibroelastosis 11.2
39 microcephaly 1, primary, autosomal recessive 11.2
40 pallister w syndrome 11.2
41 hyperproinsulinemia 11.2
42 autosomal dominant nonsyndromic deafness 11.2
43 schizotypal personality disorder 11.2
44 q fever 11.2
45 ichthyosis 11.2
46 kallmann syndrome 11.2
47 pigmented paravenous chorioretinal atrophy 11.0
48 fanconi-bickel syndrome 11.0
49 anemia, congenital dyserythropoietic, type iii 10.9
50 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 10.9

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



Diseases related to Feingold Syndrome 1

Symptoms & Phenotypes for Feingold Syndrome 1

Human phenotypes related to Feingold Syndrome 1:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
3 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
4 short palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0012745
5 deviation of the 2nd finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009468
6 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
7 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
8 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
11 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
12 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
13 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
16 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
17 abnormality of the spleen 58 31 occasional (7.5%) Occasional (29-5%) HP:0001743
18 esophageal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002032
19 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
20 annular pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001734
21 duodenal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002247
22 2-3 toe syndactyly 31 very rare (1%) HP:0004691
23 4-5 toe syndactyly 31 very rare (1%) HP:0004692
24 hearing impairment 31 HP:0000365
25 wide nasal bridge 31 HP:0000431
26 thick vermilion border 31 HP:0012471
27 everted lower lip vermilion 31 HP:0000232
28 prominent occiput 31 HP:0000269
29 tracheoesophageal fistula 31 HP:0002575
30 high palate 31 HP:0000218
31 low-set ears 31 HP:0000369
32 specific learning disability 31 HP:0001328
33 epicanthus 31 HP:0000286
34 short toe 31 HP:0001831
35 vocal cord paralysis 31 HP:0001605
36 upslanted palpebral fissure 31 HP:0000582
37 facial asymmetry 31 HP:0000324
38 polyhydramnios 31 HP:0001561
39 blepharophimosis 31 HP:0000581
40 decreased fetal movement 31 HP:0001558
41 triangular face 31 HP:0000325
42 depressed nasal tip 31 HP:0000437
43 asplenia 31 HP:0001746
44 accessory spleen 31 HP:0001747
45 posteriorly rotated ears 31 HP:0000358
46 polysplenia 31 HP:0001748
47 narrow palpebral fissure 31 HP:0045025
48 aplasia/hypoplasia of the middle phalanx of the 2nd finger 31 HP:0009568
49 small anterior fontanelle 31 HP:0000237
50 aplasia/hypoplasia of the middle phalanx of the 5th finger 31 HP:0009161

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
prominent occiput
small anterior fontanelle
microcephaly (79% of cases)

Head And Neck Face:
micrognathia
facial asymmetry
triangular face

Respiratory Larynx:
vocal cord paralysis

Cardiovascular Vascular:
patent ductus arteriosus

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

Abdomen Gastrointestinal:
tracheoesophageal fistula
esophageal atresia
duodenal atresia

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Movement:
decreased fetal movement

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

Drugs & Therapeutics for Feingold Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation and Correlation Between the Disruption in Blood-brain-barrier and the Development of Secondary Brain Edema Associated With Brain Damage by Using MRI in Patients With Various Types of Intra-cranial Bleeding Unknown status NCT01830894 Phase 1, Phase 2

Search 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:

40
Heart, Small Intestine, Kidney, Spleen, Brain, Bone, Pancreas

Publications for Feingold Syndrome 1

Articles related to Feingold Syndrome 1:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Genotype-phenotype correlations in MYCN-related Feingold syndrome. 61 24 56 6
18470948 2008
2
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins. 24 6 56 61
18671284 2008
3
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 61 6 56 24
15821734 2005
4
Expanding the clinical spectrum of MYCN-related Feingold syndrome. 6 56 61
16906565 2006
5
Growth deficiency in oculodigitoesophagoduodenal (Feingold) syndrome--case report and review of the literature. 24 56 61
15930908 2005
6
Familial syndromic esophageal atresia maps to 2p23-p24. 61 56 24
10677303 2000
7
Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia. 56 24
1870095 1991
8
Feingold Syndrome 1 61 6
20301770 2009
9
A Feingold syndrome case with previously undescribed features and a new mutation. 61 56
19852433 2009
10
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 61 56
16299066 2006
11
Feingold syndrome: clinical review and genetic mapping. 61 56
14518066 2003
12
Imperforate anus in Feingold syndrome. 61 56
10817649 2000
13
Feingold syndrome: report of a new family and review. 56 61
9375923 1997
14
Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome? 61 56
9096751 1997
15
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. 61 24
30573562 2019
16
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. 61 24
30672094 2019
17
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN. 61 24
30088856 2018
18
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2. 24 61
23495052 2013
19
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome. 61 24
22842076 2012
20
Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. 24 61
21224895 2011
21
Esophageal Atresia / Tracheoesophageal Fistula Overview 6
20301753 2009
22
Transcriptional profiling of the Sonic hedgehog response: a critical role for N-myc in proliferation of neuronal precursors. 56
12777630 2003
23
Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors. 56
12441288 2003
24
Vertebral anomalies in a new family with ODED syndrome. 56
10905665 2000
25
Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of Rett syndrome. 56
10641614 2000
26
Sonic hedgehog is essential to foregut development. 56
9731532 1998
27
MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome. 56
9268091 1997
28
Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies. 56
9217213 1997
29
Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. 56
9096752 1997
30
An unusual microcephaly. 56
631836 1978
31
The MYCN Protein in Health and Disease. 24
28358317 2017
32
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. 24
26543203 2016
33
Timing, rates and spectra of human germline mutation. 24
26656846 2016
34
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. 24
21892160 2011
35
Activities of N-Myc in the developing limb link control of skeletal size with digit separation. 24
17360777 2007
36
N-myc is essential during neurogenesis for the rapid expansion of progenitor cell populations and the inhibition of neuronal differentiation. 24
12381668 2002
37
Identification of N-myc regulatory regions involved in embryonic expression. 24
11756639 2002
38
N-myc translation is initiated via an internal ribosome entry segment that displays enhanced activity in neuronal cells. 24
11420678 2001
39
A de novo 13q31.3 microduplication encompassing the miR-17 ~ 92 cluster results in features mirroring those associated with Feingold syndrome 2. 61
32473250 2020
40
Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy. 61
30908672 2020
41
Distinct molecular pathways mediate Mycn and Myc-regulated miR-17-92 microRNA action in Feingold syndrome mouse models. 61
29636449 2018
42
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q. 61
28159702 2017
43
GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION. 61
30204967 2016
44
Expanding the phenotype of feingold syndrome-2. 61
26360630 2015
45
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2. 61
26026879 2015
46
A fourth case of Feingold syndrome type 2: psychiatric presentation and management. 61
25391829 2014
47
Recurrent duodenal atresia: a case report. 61
25330697 2014
48
MicroRNA-17~92 is required for nephrogenesis and renal function. 61
24511118 2014
49
MicroRNA-17-92 cluster regulates osteoblast proliferation and differentiation. 61
23673870 2014
50
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? 61
23824919 2013

Variations for Feingold Syndrome 1

ClinVar genetic disease variations for Feingold Syndrome 1:

6 (show all 17) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYCN NM_005378.6(MYCN):c.68_71dup (p.Gln25fs)duplication Pathogenic 433150 rs1553370260 2:16082251-16082252 2:15942129-15942130
2 MYCN NM_005378.6(MYCN):c.900_901TG[1] (p.Val301fs)short repeat Pathogenic 433154 rs1553370918 2:16085724-16085725 2:15945602-15945603
3 MYCN NM_005378.6(MYCN):c.964C>T (p.Arg322Ter)SNV Pathogenic 433151 rs759103701 2:16085788-16085788 2:15945666-15945666
4 MYCN NM_005378.6(MYCN):c.1014C>A (p.Tyr338Ter)SNV Pathogenic 433149 rs367962377 2:16085838-16085838 2:15945716-15945716
5 MYCN NM_005378.6(MYCN):c.1061dup (p.Ser355fs)duplication Pathogenic 433152 rs1553370963 2:16085884-16085885 2:15945762-15945763
6 MYCN NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter)SNV Pathogenic 545970 rs754137452 2:16085941-16085941 2:15945819-15945819
7 MYCN NM_005378.6(MYCN):c.1103_1104AG[3] (p.Ser369fs)short repeat Pathogenic 695119 2:16085926-16085927 2:15945804-15945805
8 MYCN NM_005378.6(MYCN):c.1178G>A (p.Arg393His)SNV Pathogenic 13892 rs104893646 2:16086002-16086002 2:15945880-15945880
9 MYCN NM_005378.6(MYCN):c.1177C>A (p.Arg393Ser)SNV Pathogenic 13893 rs104893647 2:16086001-16086001 2:15945879-15945879
10 MYCN NM_005378.6(MYCN):c.1181G>A (p.Arg394His)SNV Pathogenic 13894 rs104893648 2:16086005-16086005 2:15945883-15945883
11 MYCN NM_005378.6(MYCN):c.231G>A (p.Trp77Ter)SNV Pathogenic 13895 rs121913667 2:16082417-16082417 2:15942295-15942295
12 MYCN NM_005378.6(MYCN):c.217G>T (p.Glu73Ter)SNV Pathogenic 13896 rs113994115 2:16082403-16082403 2:15942281-15942281
13 MYCN NM_005378.6(MYCN):c.626dup (p.Ala210fs)duplication Pathogenic 13897 rs1558534266 2:16082808-16082809 2:15942686-15942687
14 MYCN NM_005378.6(MYCN):c.1145G>A (p.Arg382His)SNV Pathogenic 13898 rs121913666 2:16085969-16085969 2:15945847-15945847
15 MYCN NC_000002.12:g.15945545_15945546TG[1]short repeat Likely pathogenic 829866 2:16085667-16085668 2:15945545-15945546
16 MYCN NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu)SNV Likely pathogenic 433153 rs104893648 2:16086005-16086005 2:15945883-15945883
17 MYCN NM_005378.6(MYCN):c.-211C>TSNV Benign 695120 2:16080772-16080772 2:15940650-15940650

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

73
# 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

Expression for Feingold Syndrome 1

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

Pathways for Feingold Syndrome 1

Pathways related to Feingold Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 MIR92A1 MIR20A MIR19B1 MIR19A MIR18A MIR17HG
2 12.05 MIR92A1 MIR363 MIR23B MIR20A MIR19B1 MIR19A
3 11.15 MIR92A1 MIR363 MIR20A MIR19B1 MIR19A MIR18A

GO Terms for Feingold Syndrome 1

Cellular components related to Feingold Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 MIR92A1 MIR363 MIR23B MIR20A MIR19B1 MIR19A
2 extracellular vesicle GO:1903561 9.1 MIR92A1 MIR23B MIR20A MIR19B1 MIR19A MIR17

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 TEF MYCN MIR92A1 GLI3 FOXF1 CHD7
2 negative regulation of inflammatory response GO:0050728 9.67 MIR92A1 MIR20A MIR19A FOXF1
3 outflow tract morphogenesis GO:0003151 9.63 MIR20A MIR17HG MIR17
4 negative regulation of gene expression GO:0010629 9.63 MYCN MIR92A1 MIR23B MIR20A MIR19B1 MIR17
5 negative regulation of interleukin-6 secretion GO:1900165 9.61 MIR19B1 MIR19A
6 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 MIR23B MIR19B1 MIR17HG
7 gene silencing by miRNA GO:0035195 9.61 MIR92A1 MIR363 MIR23B MIR20A MIR19B1 MIR19A
8 embryonic digestive tract development GO:0048566 9.59 GLI3 FOXF1
9 embryonic digestive tract morphogenesis GO:0048557 9.58 GLI3 FOXF1
10 negative regulation of toll-like receptor signaling pathway GO:0034122 9.58 MIR19A MIR17
11 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.58 MIR20A MIR19B1 MIR19A
12 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.57 MIR92A1 MIR17
13 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.56 MIR19B1 MIR19A
14 miRNA mediated inhibition of translation GO:0035278 9.56 MIR92A1 MIR20A MIR19B1 MIR17
15 negative regulation of inflammatory response to antigenic stimulus GO:0002862 9.55 MIR19B1 MIR19A
16 negative regulation of matrix metallopeptidase secretion GO:1904465 9.54 MIR19B1 MIR19A
17 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.52 MIR20A MIR17
18 positive regulation of B cell receptor signaling pathway GO:0050861 9.51 MIR19A MIR18A
19 positive regulation of metalloendopeptidase activity GO:1904685 9.49 MIR92A1 MIR17
20 cellular response to bacterial lipopeptide GO:0071221 9.48 MIR19B1 MIR19A
21 positive regulation of pulmonary blood vessel remodeling GO:1905111 9.32 MIR20A MIR17
22 negative regulation of sprouting angiogenesis GO:1903671 9.1 MIR92A1 MIR23B MIR20A MIR19A MIR18A MIR17

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.28 MIR92A1 MIR363 MIR23B MIR20A MIR19B1 MIR19A

Sources for Feingold Syndrome 1

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