MCID: JCB001
MIFTS: 50

Jacobsen Syndrome

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

Aliases & Classifications for Jacobsen Syndrome

MalaCards integrated aliases for Jacobsen Syndrome:

Name: Jacobsen Syndrome 53 72 49 24 55 13
Chromosome 11q Deletion Syndrome 53 49
Partial 11q Monosomy Syndrome 53 49
Jbs 53 49
Jacobsen Distal 11q Deletion Syndrome 69
Paris-Trousseau Thrombocytopenia 69
11q Terminal Deletion Disorder 24
11q Partial Monosomy Syndrome 28
Jacobsen Thrombocytopenia 24
Chromosome 11q Deletion 49
11q23 Deletion Disorder 24
11q- Deletion Syndrome 24
Telomeric Deletion 11q 55
11q Deletion Disorder 24
11q Deletion Syndrome 24
Partial Monosomy 11q 49
Distal Deletion 11q 55
Distal Monosomy 11q 55
Monosomy 11qter 55
Del(11)(q23.3) 55
Del(11)(qter) 55
11q Deletion 49
11q Monosomy 49
Deletion 11q 49
Monosomy 11q 49

Characteristics:

Orphanet epidemiological data:

55
jacobsen syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
isolated cases

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


HPO:

31
jacobsen syndrome:
Mortality/Aging death in infancy
Inheritance sporadic


Classifications:



Summaries for Jacobsen Syndrome

NIH Rare Diseases : 49 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 chromosome 11q deletion syndrome, is related to johanson-blizzard syndrome and hypoplastic left heart syndrome, and has symptoms including constipation, seizures and macrocephaly. 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 : 24 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 is a rare chromosomal disorder resulting from deletion of genes from chromosome 11... more...

Description from OMIM: 147791

Related Diseases for Jacobsen Syndrome

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 johanson-blizzard syndrome 11.9
2 hypoplastic left heart syndrome 11.3
3 thrombocytopenia, paris-trousseau type 11.1
4 chromosome 3p duplication 10.1
5 thrombocytopenia 10.1
6 leukemia, chronic lymphocytic 2 10.0
7 leukemia, chronic lymphocytic 10.0
8 leukemia 10.0
9 leukemia, b-cell, chronic 10.0
10 neuroblastoma 9.9
11 cholecystitis 9.9
12 lichen planus 9.9
13 oral lichen planus 9.9
14 central cord syndrome 9.9
15 common variable immunodeficiency 9.9
16 autism 9.9
17 combined immunodeficiency, x-linked 9.9
18 fragile site 11b 9.9
19 autism spectrum disorder 9.9
20 holoprosencephaly 9.9
21 lymphoma 9.8
22 cleft palate, isolated 9.7
23 cri-du-chat syndrome 9.7
24 major affective disorder 1 9.7
25 beckwith-wiedemann syndrome 9.7
26 osteoporosis 9.7
27 palatopharyngeal incompetence 9.7
28 storage pool platelet disease 9.7
29 down syndrome 9.7
30 conotruncal heart malformations 9.7
31 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
32 hypoplastic left heart syndrome 1 9.7
33 major affective disorder 2 9.7
34 aging 9.7
35 major affective disorder 4 9.7
36 major affective disorder 5 9.7
37 major affective disorder 6 9.7
38 bone mineral density quantitative trait locus 8 9.7
39 major affective disorder 8 9.7
40 major affective disorder 7 9.7
41 major affective disorder 9 9.7
42 bone mineral density quantitative trait locus 15 9.7
43 alacrima, achalasia, and mental retardation syndrome 9.7
44 craniosynostosis 9.7
45 periventricular nodular heterotopia 9.7
46 janus kinase-3 deficiency 9.7
47 thrombosis 9.7
48 hypothyroidism 9.7
49 ventricular septal defect 9.7
50 protein c deficiency 9.7

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:

53
Head And Neck Head:
macrocephaly
microcephaly
flat occiput
trigonocephaly

Head And Neck Ears:
low-set ears

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
missing ribs

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Face:
micrognathia

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary External Genitalia Male:
hypospadias

Abdomen Gastroin testinal:
pyloric stenosis

Genitourinary External Genitalia Female:
clitoral hypoplasia
labial hypoplasia

Skeletal Limbs:
joint contractures

Head And Neck Mouth:
large, carp-shaped mouth

Head And Neck Eyes:
hypertelorism
ptosis
optic atrophy
strabismus
telecanthus
more
Head And Neck Neck:
short neck

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Hematology:
thrombocytopenia

Skeletal Hands:
brachydactyly
fifth finger clinodactyly

Abdomen Pancreas:
annular pancreas

Respiratory:
frequent respiratory infections

Skin Nails Hair Hair:
abnormal eyelashes
abnormal eyebrows

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


Clinical features from OMIM:

147791

Human phenotypes related to Jacobsen Syndrome:

55 31 (show top 50) (show all 105)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
3 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
4 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
5 short neck 55 31 frequent (33%) Frequent (79-30%) HP:0000470
6 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
7 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
8 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
9 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
10 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
11 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
13 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
14 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
15 recurrent respiratory infections 55 31 frequent (33%) Frequent (79-30%) HP:0002205
16 wide nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000431
17 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
18 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
19 smooth philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000319
20 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
21 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
22 broad hallux phalanx 55 31 frequent (33%) Frequent (79-30%) HP:0010059
23 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
24 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
25 bone marrow hypocellularity 55 31 hallmark (90%) Very frequent (99-80%) HP:0005528
26 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
27 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
28 toe clinodactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001863
29 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
30 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
31 attention deficit hyperactivity disorder 55 31 frequent (33%) Frequent (79-30%) HP:0007018
32 intrauterine growth retardation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001511
33 webbed neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000465
34 coarctation of aorta 55 31 occasional (7.5%) Occasional (29-5%) HP:0001680
35 short toe 55 31 frequent (33%) Frequent (79-30%) HP:0001831
36 hypoplastic left heart 55 31 occasional (7.5%) Occasional (29-5%) HP:0004383
37 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
38 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
39 hip dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002827
40 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
41 low-set, posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000368
42 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
43 hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001161
44 ventricular septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001629
45 spina bifida 55 31 occasional (7.5%) Occasional (29-5%) HP:0002414
46 intestinal malrotation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002566
47 bipolar affective disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007302
48 schizophrenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100753
49 eczema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000964
50 high forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000348

UMLS symptoms related to Jacobsen Syndrome:


muscle spasticity

Drugs & Therapeutics for Jacobsen Syndrome

Search Clinical Trials , NIH Clinical Center for Jacobsen Syndrome

Genetic Tests for Jacobsen Syndrome

Genetic tests related to Jacobsen Syndrome:

# Genetic test Affiliating Genes
1 11q Partial Monosomy Syndrome 28

Anatomical Context for Jacobsen Syndrome

MalaCards organs/tissues related to Jacobsen Syndrome:

38
Heart, Testes, Eye, Kidney, Bone, Bone Marrow, Pancreas

Publications for Jacobsen Syndrome

Articles related to Jacobsen Syndrome:

(show top 50) (show all 67)
# Title Authors Year
1
11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report. ( 29307309 )
2018
2
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
3
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome. ( 28232783 )
2017
4
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. ( 28211970 )
2017
5
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. ( 26997943 )
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
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. ( 26979507 )
2016
9
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. ( 27605496 )
2016
10
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size. ( 25425441 )
2015
11
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. ( 26566921 )
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
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex. ( 26056793 )
2015
15
Jacobsen syndrome detected by noninvasive prenatal testing. ( 25569015 )
2015
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
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. ( 25058499 )
2014
19
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
20
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. ( 24319861 )
2013
21
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. ( 24192682 )
2013
22
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. ( 23586500 )
2013
23
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. ( 22965935 )
2012
24
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. ( 22887642 )
2012
25
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. ( 22139980 )
2012
26
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
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
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. ( 22302716 )
2012
29
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. ( 23804479 )
2011
30
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. ( 21771150 )
2011
31
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. ( 19942620 )
2010
32
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. ( 20568388 )
2010
33
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. ( 20358622 )
2010
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
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. ( 19533782 )
2009
36
Jacobsen syndrome. ( 19267933 )
2009
37
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). ( 20003197 )
2009
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
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
41
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. ( 19000322 )
2008
42
Platelet storage pool deficiency in Jacobsen syndrome. ( 17957568 )
2007
43
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). ( 17551332 )
2007
44
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
45
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. ( 16543195 )
2006
46
Anesthetic implications of Jacobsen syndrome. ( 16409533 )
2006
47
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. ( 16419136 )
2006
48
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. ( 16502431 )
2006
49
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). ( 17044870 )
2006
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:

# Super pathways Score Top Affiliating Genes
1 11.85 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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