Page last updated: 2024-09-27

11q Deletion Disorder

A component of Jacobsen Syndrome linked to FLI1 gene at 11q23.

Synonyms(13)

Synonym
Jacobsen Thrombocytopenia
Partial 11q Monosomy Syndrome
11q Deletion Syndrome
Paris-Trousseau Thrombocytopenia
11q Deletion Disorder
11q- Deletion Syndrome
Chromosome 11q Deletion Syndrome
11q23 Deletion Disorder
Jacobsen Distal 11q Deletion Syndrome
Thrombocytopenia, Paris-Trousseau Type
Paris-Trousseau Syndrome
Jacobsen Syndrome
11q Terminal Deletion Disorder

Research Excerpts

Overview

ExcerptReference
"Jacobsen syndrome is caused by a terminal deletion on the long arm of chromosome 11 and can be associated with immunodeficiency."( Alsaleemi, A; Irvine, AD; Leahy, TR; O'Connor, C, 2020)

Treatment

ExcerptReference
"Patients with Jacobsen syndrome can be predisposed to cutaneous viral infections that are difficult to treat."( Alsaleemi, A; Irvine, AD; Leahy, TR; O'Connor, C, 2020)

Research

Studies (3)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's1 (33.33)28.8240
2020's2 (66.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
clonazepam0low10
kainic acid0low10
cidofovir anhydrous0low10

Protein Targets (109)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Thymidine kinase 0101
estrogen nuclear receptor alpha1001
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Solute carrier family 22 member 60001
Bile salt export pump0101
2-C-methyl-D-erythritol 2,4-cyclodiphosphate synthase0011
Thymidine kinase0001
Solute carrier family 22 member 60102
Canalicular multispecific organic anion transporter 10101
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit delta0202
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-10101
Neuronal acetylcholine receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-30101
Neuronal acetylcholine receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit alpha-10202
Gamma-aminobutyric acid receptor subunit beta-10101
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit delta0101
Gamma-aminobutyric acid receptor subunit gamma-20202
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit alpha-50101
Gamma-aminobutyric acid receptor subunit alpha-30101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit gamma-20101
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit alpha-20101
Gamma-aminobutyric acid receptor subunit alpha-40101
Gamma-aminobutyric acid receptor subunit beta-30202
Gamma-aminobutyric acid receptor subunit gamma-30101
Gamma-aminobutyric acid receptor subunit alpha-60101
Translocator protein0101
Translocator protein0101
Cholecystokinin receptor type A0101
Gastrin/cholecystokinin type B receptor0101
Gamma-aminobutyric acid receptor subunit alpha-50202
Gamma-aminobutyric acid receptor subunit alpha-30202
Gamma-aminobutyric acid receptor subunit alpha-20202
Gamma-aminobutyric acid receptor subunit beta-20202
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit alpha-10101
Gamma-aminobutyric acid receptor subunit beta-30101
Gamma-aminobutyric acid receptor subunit beta-20101
Gamma-aminobutyric acid receptor subunit epsilon0202
Gamma-aminobutyric acid receptor subunit alpha-60202
Gamma-aminobutyric acid receptor subunit gamma-10202
GABA theta subunit0101
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit epsilon0101
Gamma-aminobutyric acid receptor subunit theta0202
Chain A, Glutamate receptor 20011
Chain A, Glutamate receptor 20011
Chain C, Glutamate receptor 20011
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, Ferritin light chain1001
endonuclease IV1001
acetylcholinesterase1001
thioredoxin reductase1001
phosphopantetheinyl transferase1001
GLS protein1001
TDP1 protein1001
aldehyde dehydrogenase 1 family, member A11001
estrogen-related nuclear receptor alpha1001
IDH11001
euchromatic histone-lysine N-methyltransferase 21001
Bloom syndrome protein isoform 11001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
chromobox protein homolog 11001
thyroid hormone receptor beta isoform 21001
importin subunit beta-1 isoform 11001
snurportin-11001
nuclear receptor ROR-gamma isoform 11001
geminin1001
DNA polymerase kappa isoform 11001
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta101001
Metabotropic glutamate receptor 60011
Cellular tumor antigen p531001
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30213
Glutamate receptor 40213
Glutamate receptor ionotropic, kainate 10213
Glutamate receptor ionotropic, NMDA 1 0213
Glutamate receptor ionotropic, kainate 10213
Metabotropic glutamate receptor 50011
Glutamate receptor ionotropic, kainate 20224
Glutamate receptor 10112
Glutamate receptor 20112
Glutamate receptor 30011
Glutamate receptor ionotropic, kainate 30202
Glutamate receptor 40101
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Glutamate receptor ionotropic, kainate 40202
Glutamate receptor ionotropic, kainate 20213
Glutamate receptor ionotropic, kainate 30202
Glutamate receptor ionotropic, kainate 40101
Glutamate receptor ionotropic, kainate 50202
Glutamate receptor ionotropic, NMDA 2D0213
Glutamate receptor ionotropic, kainate 50202
Glutamate receptor ionotropic, NMDA 3B0213
Glutamate receptor ionotropic, NMDA 3A0213
ATP-dependent phosphofructokinase1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]