FGLDS2
MCID: FNG009
MIFTS: 27

Feingold Syndrome 2 (FGLDS2)

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

Aliases & Classifications for Feingold Syndrome 2

MalaCards integrated aliases for Feingold Syndrome 2:

Name: Feingold Syndrome 2 57 72 29 13 6 70
Fglds2 57 58 72
Brachydactyly with Short Stature and Microcephaly 57 72
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 2 58
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 2 58
Brachydactyly-Short Stature-Microcephaly Syndrome 58
Brunner-Winter Syndrome Type 2 58
Feingold Syndrome, Type 2 39
Feingold Syndrome Type 2 58
Mmt Type 2 58
Fs2 58

Characteristics:

Orphanet epidemiological data:

58
feingold syndrome type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
feingold syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Feingold Syndrome 2

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). For a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 (164280). (614326) (Updated 05-Apr-2021)

MalaCards based summary : Feingold Syndrome 2, also known as fglds2, is related to feingold syndrome 1 and microcephaly. An important gene associated with Feingold Syndrome 2 is FGLDS2 (Feingold Syndrome 2). Related phenotypes are intellectual disability and microcephaly

UniProtKB/Swiss-Prot : 72 Feingold syndrome 2: A syndrome characterized by microcephaly, short stature, and digital abnormalities including brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs of variable severity, and cutaneous syndactyly of the toes.

Related Diseases for Feingold Syndrome 2

Diseases in the Feingold Syndrome 1 family:

Feingold Syndrome 2

Diseases related to Feingold Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 feingold syndrome 1 10.4
2 microcephaly 10.3
3 learning disability 10.2
4 chromosome 2q35 duplication syndrome 10.0
5 duodenal atresia 10.0
6 alacrima, achalasia, and mental retardation syndrome 10.0
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
8 brachydactyly 10.0
9 growth hormone deficiency 10.0

Graphical network of the top 20 diseases related to Feingold Syndrome 2:



Diseases related to Feingold Syndrome 2

Symptoms & Phenotypes for Feingold Syndrome 2

Human phenotypes related to Feingold Syndrome 2:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 neurodevelopmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0012758
4 short middle phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0005819
5 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
8 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
9 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
10 jejunal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0005235
11 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
12 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
13 mood changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001575
14 behavioral abnormality 58 Occasional (29-5%)
15 abnormality of the skeletal system 58 Very frequent (99-80%)
16 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Growth Height:
short stature

Neurologic Central Nervous System:
impaired intellectual development
compressed adenohypophysis

Cardiovascular Heart:
bicuspid aortic valve (in 1 patient)

Skeletal Feet:
contracture of proximal and interphalangeal joints (in 1 patient)
cutaneous syndactyly, 2-3 and/or 4-5

Skeletal Skull:
microcephaly

Skeletal Hands:
hypoplastic thumbs
brachymesophalangy
contracture of proximal and interphalangeal joints (in 1 patient)

Endocrine Features:
growth hormone deficiency (in 1 patient)

Cardiovascular Vascular:
aortic root dilation (in 1 patient)

Clinical features from OMIM®:

614326 (Updated 05-Apr-2021)

Drugs & Therapeutics for Feingold Syndrome 2

Search Clinical Trials , NIH Clinical Center for Feingold Syndrome 2

Genetic Tests for Feingold Syndrome 2

Genetic tests related to Feingold Syndrome 2:

# Genetic test Affiliating Genes
1 Feingold Syndrome 2 29

Anatomical Context for Feingold Syndrome 2

Publications for Feingold Syndrome 2

Articles related to Feingold Syndrome 2:

(show all 11)
# Title Authors PMID Year
1
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. 57 6
21892160 2011
2
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. 57 61
30672094 2019
3
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2. 6 61
23495052 2013
4
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 57
19344873 2009
5
Expanding the clinical spectrum of MYCN-related Feingold syndrome. 57
16906565 2006
6
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2. 61
33369046 2021
7
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
8
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q. 61
28159702 2017
9
Expanding the phenotype of feingold syndrome-2. 61
26360630 2015
10
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2. 61
26026879 2015
11
A fourth case of Feingold syndrome type 2: psychiatric presentation and management. 61
25391829 2014

Variations for Feingold Syndrome 2

ClinVar genetic disease variations for Feingold Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIR17HG NC_000013.11:g.(?_90698351)_(90699137_?)del Deletion Pathogenic 433155 GRCh37: 13:91350605-91351391
GRCh38: 13:90698351-90699137

Expression for Feingold Syndrome 2

Search GEO for disease gene expression data for Feingold Syndrome 2.

Pathways for Feingold Syndrome 2

GO Terms for Feingold Syndrome 2

Sources for Feingold Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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