MCID: JCB001
MIFTS: 50

Jacobsen Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Jacobsen Syndrome

MalaCards integrated aliases for Jacobsen Syndrome:

Name: Jacobsen Syndrome 54 50 24 25 56 13
11q- Deletion Syndrome 24 25
Jacobsen Distal 11q Deletion Syndrome 69
Chromosome 11q Deletion Syndrome 50
Paris-Trousseau Thrombocytopenia 69
11q Terminal Deletion Disorder 25
Partial 11q Monosomy Syndrome 50
11q Partial Monosomy Syndrome 29
Jacobsen Thrombocytopenia 25
Chromosome 11q Deletion 50
11q23 Deletion Disorder 25
Telomeric Deletion 11q 56
11q Deletion Disorder 25
11q Deletion Syndrome 25
Partial Monosomy 11q 50
Distal Deletion 11q 56
Distal Monosomy 11q 56
Monosomy 11qter 56
Del(11)(q23.3) 56
Del(11)(qter) 56
11q Deletion 50
11q Monosomy 50
Deletion 11q 50
Monosomy 11q 50
Jbs 50

Characteristics:

Orphanet epidemiological data:

56
jacobsen syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
75% of affected individuals are female
incidence of 1 in 100,000 births


HPO:

32
jacobsen syndrome:
Mortality/Aging death in infancy
Inheritance sporadic


Classifications:



Summaries for Jacobsen Syndrome

NIH Rare Diseases : 50 chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 11q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. treatment is based on the signs and symptoms present in each person. this page is meant to provide general information about 11q deletions. you can contact gard if you have questions about a specific deletion on chromosome 11. to learn more about chromosomal anomalies please visit our gard webpage on faqs about chromosome disorders. last updated: 10/6/2016

MalaCards based summary : Jacobsen Syndrome, also known as 11q- deletion syndrome, is related to johanson-blizzard syndrome and hypoplastic left heart syndrome, and has symptoms including short stature, scoliosis and recurrent respiratory infections. An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome), and among its related pathways/superpathways are NF-kappaB Signaling and CNTF Signaling. Affiliated tissues include heart, testes and eye.

Genetics Home Reference : 25 Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.

Wikipedia : 72 Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from... more...

Description from OMIM: 147791

Related Diseases for Jacobsen Syndrome

Graphical network of the top 20 diseases related to Jacobsen Syndrome:



Diseases related to Jacobsen Syndrome

Symptoms & Phenotypes for Jacobsen Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
intrauterine growth retardation

Skeletal- Hands:
brachydactyly
fifth finger clinodactyly

Head And Neck- Eyes:
optic atrophy
strabismus
ptosis
epicanthal folds
hypertelorism
more
Head And Neck- Ears:
low-set ears

Head And Neck- Face:
micrognathia

Cardiovascular- Heart:
atrial septal defect
ventricular septal defect

Genitourinary- Internal Genitalia Male:
cryptorchidism

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum
missing ribs

Abdomen- Gastroin testinal:
pyloric stenosis

Skin Nails & Hair- Hair:
abnormal eyelashes
abnormal eyebrows

Genitourinary- External Genitalia Female:
labial hypoplasia
clitoral hypoplasia

Skeletal- Limbs:
joint contractures

Neurologic- Central Nervous System:
mental retardation
spasticity
hydrocephalus
holoprosencephaly
hypotonia (infancy)

Head And Neck- Head:
microcephaly
trigonocephaly
macrocephaly
flat occiput

Hematology:
thrombocytopenia

Head And Neck- Nose:
depressed nasal bridge
short nose
upturned nasal tip

Genitourinary- External Genitalia Male:
hypospadias

Head And Neck- Neck:
short neck

Abdomen- Pancreas:
annular pancreas

Respiratory:
frequent respiratory infections

Head And Neck- Mouth:
large, carp-shaped mouth

Laboratory- Abnormalities:
partial deletion of long arm of chromosome 11 (11q23-qter)


Clinical features from OMIM:

147791

Human phenotypes related to Jacobsen Syndrome:

56 32 (show top 50) (show all 103)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
4 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
5 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
6 cerebral atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002059
7 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
9 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
10 thrombocytopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001873
11 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
12 intrauterine growth retardation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001511
13 premature birth 56 32 frequent (33%) Frequent (79-30%) HP:0001622
14 pachygyria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001302
15 trigonocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000243
16 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
17 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
18 short nose 56 32 frequent (33%) Frequent (79-30%) HP:0003196
19 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
20 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
21 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
22 microcornea 56 32 frequent (33%) Frequent (79-30%) HP:0000482
23 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
24 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
25 short neck 56 32 frequent (33%) Frequent (79-30%) HP:0000470
26 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
27 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
28 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
29 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
30 ventricular septal defect 56 32 frequent (33%) Frequent (79-30%) HP:0001629
31 long philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000343
32 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
33 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
34 webbed neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000465
35 coarctation of aorta 56 32 occasional (7.5%) Occasional (29-5%) HP:0001680
36 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
37 spina bifida 56 32 occasional (7.5%) Occasional (29-5%) HP:0002414
38 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
39 toe syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001770
40 schizophrenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0100753
41 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
42 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
43 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
44 duodenal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002247
45 intestinal malrotation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002566
46 smooth philtrum 56 32 frequent (33%) Frequent (79-30%) HP:0000319
47 facial asymmetry 56 32 frequent (33%) Frequent (79-30%) HP:0000324
48 annular pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0001734
49 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
50 feeding difficulties in infancy 56 32 hallmark (90%) Very frequent (99-80%) HP:0008872

UMLS symptoms related to Jacobsen Syndrome:


muscle spasticity

Drugs & Therapeutics for Jacobsen Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Metabolic Syndrome in Patients With First-episode Schizophrenia Completed NCT00957294
2 Working Memory Training for Chronic Neuropathic and Fibromyalgia Pain Recruiting NCT02824588 Early Phase 1

Search NIH Clinical Center for Jacobsen Syndrome

Genetic Tests for Jacobsen Syndrome

Genetic tests related to Jacobsen Syndrome:

id Genetic test Affiliating Genes
1 11q Partial Monosomy Syndrome 29
2 Jacobsen Syndrome 24

Anatomical Context for Jacobsen Syndrome

MalaCards organs/tissues related to Jacobsen Syndrome:

39
Heart, Testes, Eye, Pancreas, Bone, Kidney, Bone Marrow

Publications for Jacobsen Syndrome

Articles related to Jacobsen Syndrome:

(show top 50) (show all 66)
id Title Authors Year
1
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound. ( 28254208 )
2017
2
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. ( 28211970 )
2017
3
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome. ( 28232783 )
2017
4
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. ( 27605496 )
2016
5
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. ( 26979507 )
2016
6
Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia. ( 27569865 )
2016
7
A case of Jacobsen syndrome with multifocal white matter lesions. ( 27317214 )
2016
8
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. ( 26997943 )
2016
9
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. ( 26566921 )
2015
10
Jacobsen syndrome detected by noninvasive prenatal testing. ( 25569015 )
2015
11
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex. ( 26056793 )
2015
12
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome. ( 26093983 )
2015
13
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. ( 26285164 )
2015
14
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size. ( 25425441 )
2015
15
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. ( 25058499 )
2014
16
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. ( 24311471 )
2014
17
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. ( 25288895 )
2014
18
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. ( 23586500 )
2013
19
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. ( 24319861 )
2013
20
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. ( 24192682 )
2013
21
Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature. ( 23815883 )
2013
22
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. ( 22302716 )
2012
23
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. ( 22139980 )
2012
24
Exploration of differences in types of sleep disturbance and severity of sleep problems between individuals with Cri du Chat syndrome, Down's syndrome, and Jacobsen syndrome: a case control study. ( 22699250 )
2012
25
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. ( 22965935 )
2012
26
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. ( 22887642 )
2012
27
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. ( 22876581 )
2012
28
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. ( 21771150 )
2011
29
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. ( 23804479 )
2011
30
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. ( 19942620 )
2010
31
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. ( 20358622 )
2010
32
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. ( 20568388 )
2010
33
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). ( 20003197 )
2009
34
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). ( 18855024 )
2009
35
Jacobsen syndrome. ( 19267933 )
2009
36
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. ( 19533782 )
2009
37
Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps. ( 19029687 )
2008
38
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). ( 18618998 )
2008
39
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3). ( 18792974 )
2008
40
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. ( 19000322 )
2008
41
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). ( 17551332 )
2007
42
Platelet storage pool deficiency in Jacobsen syndrome. ( 17957568 )
2007
43
A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. ( 17786114 )
2007
44
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. ( 16502431 )
2006
45
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). ( 17044870 )
2006
46
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. ( 16419136 )
2006
47
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. ( 16543195 )
2006
48
Anesthetic implications of Jacobsen syndrome. ( 16409533 )
2006
49
Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. ( 15887263 )
2005
50
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1). ( 16222663 )
2005

Variations for Jacobsen Syndrome

Expression for Jacobsen Syndrome

Search GEO for disease gene expression data for Jacobsen Syndrome.

Pathways for Jacobsen Syndrome

Pathways related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.83 CBL FLI1 JAK3
2
Show member pathways
11.47 CBL ETS1 JAK3
3 10.6 CBL ETS1 JAK3

GO Terms for Jacobsen Syndrome

Biological processes related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 8.96 BSX SHANK3
2 positive regulation of long-term synaptic potentiation GO:1900273 8.62 NRGN SHANK3

Molecular functions related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 8.92 BSX CBL ETS1 FLI1

Sources for Jacobsen Syndrome

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
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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
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