MCID: FNG009
MIFTS: 22

Feingold Syndrome 2

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

Aliases & Classifications for Feingold Syndrome 2

MalaCards integrated aliases for Feingold Syndrome 2:

Name: Feingold Syndrome 2 57 75 29 13 6 73
Fglds2 57 59 75
Brachydactyly with Short Stature and Microcephaly 57 75
Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 2 59
Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 2 59
Brachydactyly-Short Stature-Microcephaly Syndrome 59
Brunner-Winter Syndrome Type 2 59
Feingold Syndrome, Type 2 40
Feingold Syndrome Type 2 59
Mmt Type 2 59
Fs2 59

Characteristics:

Orphanet epidemiological data:

59
feingold syndrome type 2
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
feingold syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614326
Orphanet 59 ORPHA391646
ICD10 via Orphanet 34 Q87.8
MedGen 42 C3280489
UMLS 73 C3280489

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)

MalaCards based summary : Feingold Syndrome 2, also known as fglds2, is related to feingold syndrome 1. An important gene associated with Feingold Syndrome 2 is MIR17HG (MiR-17-92a-1 Cluster Host Gene). Affiliated tissues include bone, and related phenotypes are intellectual disability and microcephaly

UniProtKB/Swiss-Prot : 75 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 9.8

Symptoms & Phenotypes for Feingold Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Skull:
microcephaly

Skeletal Feet:
cutaneous syndactyly, 2-3 and/or 4-5

Head And Neck Head:
microcephaly

Skeletal Hands:
brachymesophalangy
hypoplastic thumbs

Neurologic Central Nervous System:
mental retardation


Clinical features from OMIM:

614326

Human phenotypes related to Feingold Syndrome 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 short stature 32 HP:0004322
4 brachydactyly 32 HP:0001156
5 short thumb 32 HP:0009778
6 short middle phalanx of finger 32 HP:0005819

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 MIR17HG

Anatomical Context for Feingold Syndrome 2

MalaCards organs/tissues related to Feingold Syndrome 2:

41
Bone

Publications for Feingold Syndrome 2

Articles related to Feingold Syndrome 2:

# Title Authors Year
1
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2. ( 26026879 )
2015

Variations for Feingold Syndrome 2

ClinVar genetic disease variations for Feingold Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MIR17HG NC_000013.11: g.(?_90698351)_(90699137_?)del deletion Pathogenic GRCh38 Chromosome 13, 90698351: 90699137
2 MIR17HG NC_000013.11: g.(?_90698351)_(90699137_?)del deletion Pathogenic GRCh37 Chromosome 13, 91350605: 91351391

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 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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