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MCID: JCB001
MIFTS: 50

Jacobsen Syndrome

Categories: Rare diseases, Eye diseases, Fetal diseases, Blood diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Jacobsen Syndrome

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MalaCards integrated aliases for Jacobsen Syndrome:

Name: Jacobsen Syndrome 57 76 53 25 59 13 40
Chromosome 11q Deletion Syndrome 57 53
Partial 11q Monosomy Syndrome 57 53
Jbs 57 53
Jacobsen Distal 11q Deletion Syndrome 73
Paris-Trousseau Thrombocytopenia 73
11q Terminal Deletion Disorder 25
11q Partial Monosomy Syndrome 29
Jacobsen Thrombocytopenia 25
Chromosome 11q Deletion 53
11q23 Deletion Disorder 25
11q- Deletion Syndrome 25
Telomeric Deletion 11q 59
11q Deletion Disorder 25
11q Deletion Syndrome 25
Partial Monosomy 11q 53
Distal Deletion 11q 59
Distal Monosomy 11q 59
Monosomy 11qter 59
Del(11)(q23.3) 59
Del(11)(qter) 59
11q Deletion 53
11q Monosomy 53
Deletion 11q 53
Monosomy 11q 53

Characteristics:

Orphanet epidemiological data:

59
jacobsen syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

57
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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Sources

Summaries for Jacobsen Syndrome

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NIH Rare Diseases : 53 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.

MalaCards based summary : Jacobsen Syndrome, also known as chromosome 11q deletion syndrome, is related to johanson-blizzard syndrome and thrombocytopenia, paris-trousseau type, and has symptoms including muscle spasticity 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 testes, heart and eye, and related phenotypes are macrocephaly and hypertelorism

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 : 76 Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11... more...

Description from OMIM: 147791
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Related Diseases for Jacobsen Syndrome

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 johanson-blizzard syndrome 11.9
2 thrombocytopenia, paris-trousseau type 11.1
3 chromosome 3p duplication 10.1
4 thrombocytopenia 10.1
5 leukemia, chronic lymphocytic 2 10.0
6 leukemia, chronic lymphocytic 10.0
7 leukemia 10.0
8 leukemia, b-cell, chronic 10.0
9 neuroblastoma 9.9
10 common variable immunodeficiency 9.9
11 autism 9.9
12 combined immunodeficiency, x-linked 9.9
13 autism spectrum disorder 9.9
14 bladder cancer 9.9
15 cholecystitis 9.9
16 lichen planus 9.9
17 holoprosencephaly 9.9
18 lymphoma 9.8
19 cleft palate, isolated 9.7
20 cri-du-chat syndrome 9.7
21 beckwith-wiedemann syndrome 9.7
22 osteoporosis 9.7
23 palatopharyngeal incompetence 9.7
24 storage pool platelet disease 9.7
25 down syndrome 9.7
26 hypoplastic left heart syndrome 1 9.7
27 major affective disorder 2 9.7
28 aging 9.7
29 major affective disorder 4 9.7
30 major affective disorder 5 9.7
31 major affective disorder 6 9.7
32 major affective disorder 8 9.7
33 major affective disorder 7 9.7
34 major affective disorder 9 9.7
35 alacrima, achalasia, and mental retardation syndrome 9.7
36 craniosynostosis 9.7
37 hypoplastic left heart syndrome 9.7
38 periventricular nodular heterotopia 9.7
39 janus kinase-3 deficiency 9.7
40 thrombosis 9.7
41 hypothyroidism 9.7
42 ventricular septal defect 9.7
43 protein c deficiency 9.7
44 double outlet right ventricle 9.7
45 growth hormone deficiency 9.7
46 limb reduction defect 9.7
47 ring chromosome 11 9.7

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



Diseases related to Jacobsen Syndrome
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Symptoms & Phenotypes for Jacobsen Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly
flat occiput
trigonocephaly

Head And Neck Ears:
low-set ears

Chest Ribs Sternum 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 Gastrointestinal:
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

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show top 50) (show all 106)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
7 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
8 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
13 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
15 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
16 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
17 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
18 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
19 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
20 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
21 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
22 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
23 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
24 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
25 bone marrow hypocellularity 59 32 hallmark (90%) Very frequent (99-80%) HP:0005528
26 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
27 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
28 toe clinodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001863
29 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
30 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
31 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
32 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
33 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
34 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
35 short toe 59 32 frequent (33%) Frequent (79-30%) HP:0001831
36 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
37 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
38 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
39 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
40 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
41 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
42 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
43 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
44 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
45 spina bifida 59 32 occasional (7.5%) Occasional (29-5%) HP:0002414
46 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
47 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
48 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
49 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
50 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348

UMLS symptoms related to Jacobsen Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to Jacobsen Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 BSX CBL ETS1 FLI1 JAK3
Sources

Drugs & Therapeutics for Jacobsen Syndrome

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Search Clinical Trials , NIH Clinical Center for Jacobsen Syndrome

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Genetic Tests for Jacobsen Syndrome

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Genetic tests related to Jacobsen Syndrome:

# Genetic test Affiliating Genes
1 11q Partial Monosomy Syndrome 29
Sources

Anatomical Context for Jacobsen Syndrome

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MalaCards organs/tissues related to Jacobsen Syndrome:

41
Testes, Heart, Eye, Kidney, Bone, Bone Marrow, Pancreas
Sources

Publications for Jacobsen Syndrome

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Articles related to Jacobsen Syndrome:

(show top 50) (show all 69)
# Title Authors Year
1
11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report. ( 29307309 )
2018
2
Morphological and genetic abnormalities in a Jacobsen syndrome. ( 29556653 )
2017
3
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
4
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. ( 28211970 )
2017
5
Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome. ( 28232783 )
2017
6
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. ( 26979507 )
2016
7
Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function ( 29787157 )
2016
8
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. ( 26997943 )
2016
9
Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia. ( 27569865 )
2016
10
A case of Jacobsen syndrome with multifocal white matter lesions. ( 27317214 )
2016
11
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. ( 27605496 )
2016
12
Jacobsen syndrome detected by noninvasive prenatal testing. ( 25569015 )
2015
13
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. ( 26566921 )
2015
14
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome. ( 26093983 )
2015
15
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex. ( 26056793 )
2015
16
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size. ( 25425441 )
2015
17
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. ( 26285164 )
2015
18
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. ( 24311471 )
2014
19
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. ( 25058499 )
2014
20
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. ( 25288895 )
2014
21
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. ( 24192682 )
2013
22
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. ( 24319861 )
2013
23
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
24
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. ( 23586500 )
2013
25
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. ( 22876581 )
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
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. ( 22139980 )
2012
28
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
29
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. ( 22302716 )
2012
30
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. ( 22965935 )
2012
31
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. ( 21771150 )
2011
32
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. ( 23804479 )
2011
33
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. ( 19942620 )
2010
34
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. ( 20358622 )
2010
35
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. ( 20568388 )
2010
36
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). ( 20003197 )
2009
37
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. ( 19533782 )
2009
38
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
39
Jacobsen syndrome. ( 19267933 )
2009
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
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
42
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. ( 19000322 )
2008
43
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). ( 18618998 )
2008
44
Platelet storage pool deficiency in Jacobsen syndrome. ( 17957568 )
2007
45
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
46
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). ( 17551332 )
2007
47
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). ( 17044870 )
2006
48
Anesthetic implications of Jacobsen syndrome. ( 16409533 )
2006
49
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. ( 16543195 )
2006
50
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. ( 16419136 )
2006
Sources

Variations for Jacobsen Syndrome

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Expression for Jacobsen Syndrome

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Search GEO for disease gene expression data for Jacobsen Syndrome.
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Pathways for Jacobsen Syndrome

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

# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
11.85 CBL FLI1 JAK3
2
CNTF Signaling 64
Show member pathways
 11.55 CBL ETS1 JAK3
3
IL4-mediated signaling events 1
10.6 CBL ETS1 JAK3
Sources

GO Terms for Jacobsen Syndrome

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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

Sources for Jacobsen Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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