MCID: JCB001
MIFTS: 48

Jacobsen Syndrome malady

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

Aliases & Classifications for Jacobsen Syndrome

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Jacobsen Syndrome:

Name: Jacobsen Syndrome 52 48 24 25 54 12
Partial 11q Monosomy Syndrome 48 27
11q- Deletion Syndrome 24 25
Jacobsen Distal 11q Deletion Syndrome 68
Paris-Trousseau Thrombocytopenia 68
Chromosome 11q Deletion Syndrome 48
11q Terminal Deletion Disorder 25
Johanson-Blizzard Syndrome 68
Jacobsen Thrombocytopenia 25
Chromosome 11q Deletion 48
11q23 Deletion Disorder 25
Telomeric Deletion 11q 54
11q Deletion Disorder 25
 
11q Deletion Syndrome 25
Partial Monosomy 11q 48
Distal Monosomy 11q 54
Distal Deletion 11q 54
Monosomy 11qter 54
Del(11)(q23.3) 54
Del(11)(qter) 54
Monosomy 11q 48
Deletion 11q 48
11q Monosomy 48
11q Deletion 48
Jbs 48

Characteristics:

Orphanet epidemiological data:

54
jacobsen syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

64
jacobsen syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 147791
Orphanet54 ORPHA2308
MESH via Orphanet40 D054868
UMLS via Orphanet69 C0795841
ICD10 via Orphanet31 Q93.5

Summaries for Jacobsen Syndrome

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NIH Rare Diseases:48 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 partial 11q monosomy syndrome, is related to thrombocytopenia, paris-trousseau type and johanson-blizzard syndrome, and has symptoms including thrombocytopenia, bone marrow hypocellularity and cognitive impairment. An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome), and among its related pathways are IL4-mediated signaling events and CNTF Signaling. Affiliated tissues include heart, testes and bone, and related mouse phenotype endocrine/exocrine gland.

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

Description from OMIM:52 147791

Related Diseases for Jacobsen Syndrome

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



Diseases related to jacobsen syndrome

Symptoms & Phenotypes for Jacobsen Syndrome

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Symptoms by clinical synopsis from OMIM:

147791

Clinical features from OMIM:

147791

Human phenotypes related to Jacobsen Syndrome:

 64 54 (show all 116)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia64 54 hallmark (90%) Very frequent (99-80%) HP:0001873
2 bone marrow hypocellularity64 54 hallmark (90%) Very frequent (99-80%) HP:0005528
3 cognitive impairment64 hallmark (90%) HP:0100543
4 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
5 macrocephaly64 54 typical (50%) Frequent (79-30%) HP:0000256
6 epicanthus64 54 typical (50%) Frequent (79-30%) HP:0000286
7 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
8 facial asymmetry64 54 typical (50%) Frequent (79-30%) HP:0000324
9 long philtrum64 54 typical (50%) Frequent (79-30%) HP:0000343
10 micrognathia64 typical (50%) HP:0000347
11 high forehead64 54 typical (50%) Frequent (79-30%) HP:0000348
12 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
13 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
14 short neck64 54 typical (50%) Frequent (79-30%) HP:0000470
15 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
16 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
17 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
18 abnormality of the ribs64 typical (50%) HP:0000772
19 premature birth64 54 typical (50%) Frequent (79-30%) HP:0001622
20 ventricular septal defect64 54 typical (50%) Frequent (79-30%) HP:0001629
21 pes planus64 54 typical (50%) Frequent (79-30%) HP:0001763
22 toe syndactyly64 54 typical (50%) Frequent (79-30%) HP:0001770
23 short toe64 54 typical (50%) Frequent (79-30%) HP:0001831
24 preaxial foot polydactyly64 typical (50%) HP:0001841
25 long hallux64 54 typical (50%) Frequent (79-30%) HP:0001847
26 frontal bossing64 54 typical (50%) Frequent (79-30%) HP:0002007
27 constipation64 54 typical (50%) Frequent (79-30%) HP:0002019
28 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
29 short nose64 54 typical (50%) Frequent (79-30%) HP:0003196
30 abnormal form of the vertebral bodies64 54 typical (50%) Frequent (79-30%) HP:0003312
31 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
32 finger syndactyly64 54 typical (50%) Frequent (79-30%) HP:0006101
33 attention deficit hyperactivity disorder64 54 typical (50%) Frequent (79-30%) HP:0007018
34 aplasia/hypoplasia of the earlobes64 54 typical (50%) Frequent (79-30%) HP:0009906
35 broad columella64 54 typical (50%) Frequent (79-30%) HP:0010761
36 tibial deviation of toes64 typical (50%) HP:0100499
37 aplasia/hypoplasia of the eyebrow64 54 typical (50%) Frequent (79-30%) HP:0100840
38 multicystic kidney dysplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000003
39 abnormality of the palate64 54 occasional (7.5%) Occasional (29-5%) HP:0000174
40 trigonocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000243
41 webbed neck64 54 occasional (7.5%) Occasional (29-5%) HP:0000465
42 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
43 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
44 cleft eyelid64 54 occasional (7.5%) Occasional (29-5%) HP:0000625
45 eczema64 54 occasional (7.5%) Occasional (29-5%) HP:0000964
46 hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001161
47 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
48 intrauterine growth retardation64 54 occasional (7.5%) Occasional (29-5%) HP:0001511
49 abnormality of the aortic valve64 occasional (7.5%) HP:0001646
50 abnormality of the aorta64 occasional (7.5%) HP:0001679
51 annular pancreas64 54 occasional (7.5%) Occasional (29-5%) HP:0001734
52 talipes64 54 occasional (7.5%) Occasional (29-5%) HP:0001883
53 pyloric stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002021
54 cerebral cortical atrophy64 occasional (7.5%) HP:0002120
55 abnormality of neuronal migration64 occasional (7.5%) HP:0002269
56 spina bifida64 54 occasional (7.5%) Occasional (29-5%) HP:0002414
57 intestinal malrotation64 54 occasional (7.5%) Occasional (29-5%) HP:0002566
58 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
59 abnormality of the hip bone64 occasional (7.5%) HP:0003272
60 hernia of the abdominal wall64 occasional (7.5%) HP:0004299
61 hypoplastic left heart64 54 occasional (7.5%) Occasional (29-5%) HP:0004383
62 ectopic anus64 54 occasional (7.5%) Occasional (29-5%) HP:0004397
63 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
64 urogenital fistula64 occasional (7.5%) HP:0100589
65 duodenal stenosis64 occasional (7.5%) HP:0100867
66 hypospadias64 HP:0000047
67 clitoral hypoplasia64 HP:0000060
68 labial hypoplasia64 HP:0000066
69 hydrocephalus64 HP:0000238
70 microcephaly64 HP:0000252
71 low-set ears64 HP:0000369
72 microcornea64 54 Frequent (79-30%) HP:0000482
73 abnormality of the eyelashes64 HP:0000499
74 telecanthus64 HP:0000506
75 chorioretinal coloboma64 HP:0000567
76 microphthalmia64 HP:0000568
77 nasolacrimal duct obstruction64 HP:0000579
78 amblyopia64 HP:0000646
79 optic atrophy64 HP:0000648
80 pectus excavatum64 HP:0000767
81 missing ribs64 54 Frequent (79-30%) HP:0000921
82 macular hypoplasia64 HP:0001104
83 brachydactyly syndrome64 HP:0001156
84 intellectual disability64 54 Very frequent (99-80%) HP:0001249
85 spasticity64 HP:0001257
86 holoprosencephaly64 HP:0001360
87 flexion contracture64 HP:0001371
88 failure to thrive64 HP:0001508
89 atria septal defect64 HP:0001631
90 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
91 clinodactyly of the 5th finger64 HP:0004209
92 depressed nasal bridge64 HP:0005280
93 flat occiput64 HP:0005469
94 infantile muscular hypotonia64 HP:0008947
95 u-shaped upper lip vermilion64 HP:0010806
96 inguinal hernia54 Occasional (29-5%)
97 hydronephrosis54 Occasional (29-5%)
98 smooth philtrum54 Frequent (79-30%)
99 wide nasal bridge54 Occasional (29-5%)
100 ectropion54 Occasional (29-5%)
101 global developmental delay54 Very frequent (99-80%)
102 agenesis of corpus callosum54 Occasional (29-5%)
103 pachygyria54 Occasional (29-5%)
104 growth delay54 Very frequent (99-80%)
105 death in infancy54 Occasional (29-5%)
106 aortic valve stenosis54 Occasional (29-5%)
107 coarctation of aorta54 Occasional (29-5%)
108 toe clinodactyly54 Frequent (79-30%)
109 cerebral atrophy54 Occasional (29-5%)
110 duodenal atresia54 Occasional (29-5%)
111 hip dislocation54 Occasional (29-5%)
112 abnormality of the anus54 Occasional (29-5%)
113 bipolar affective disorder54 Occasional (29-5%)
114 feeding difficulties in infancy54 Very frequent (99-80%)
115 broad hallux phalanx54 Frequent (79-30%)
116 schizophrenia54 Occasional (29-5%)

UMLS symptoms related to Jacobsen Syndrome:


joint laxity, muscle spasticity

MGI Mouse Phenotypes related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2BSX, CBL, ETS1, FLI1, JAK3

Drugs & Therapeutics for Jacobsen Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Metabolic Syndrome in Patients With First-episode SchizophreniaCompletedNCT00957294
2Working Memory Training for Chronic Neuropathic and Fibromyalgia PainNot yet recruitingNCT02824588Early Phase 1

Search NIH Clinical Center for Jacobsen Syndrome

Genetic Tests for Jacobsen Syndrome

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Genetic tests related to Jacobsen Syndrome:

id Genetic test Affiliating Genes
1 11q Partial Monosomy Syndrome27
2 Jacobsen Syndrome24

Anatomical Context for Jacobsen Syndrome

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MalaCards organs/tissues related to Jacobsen Syndrome:

36
Heart, Testes, Bone, Eye, Pancreas, Bone marrow, Kidney

Publications for Jacobsen Syndrome

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Articles related to Jacobsen Syndrome:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. (26979507)
2016
2
A case of Jacobsen syndrome with multifocal white matter lesions. (27317214)
2016
3
11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome. (27605496)
2016
4
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. (26997943)
2016
5
Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia. (27569865)
2016
6
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. (26285164)
2015
7
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex. (26056793)
2015
8
Jacobsen syndrome detected by noninvasive prenatal testing. (25569015)
2015
9
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome. (26093983)
2015
10
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. (26566921)
2015
11
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size. (25425441)
2015
12
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. (25058499)
2014
13
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
14
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. (25288895)
2014
15
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. (24192682)
2013
16
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (23586500)
2013
17
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. (24319861)
2013
18
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
19
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. (22302716)
2012
20
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. (22876581)
2012
21
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. (22965935)
2012
22
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
23
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. (22139980)
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
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
2011
26
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
2011
27
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
2010
28
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
2010
29
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
2010
30
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
2009
31
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
2009
32
Jacobsen syndrome. (19267933)
2009
33
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
34
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
35
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
36
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). (18618998)
2008
37
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. (19000322)
2008
38
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
39
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
2007
40
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
41
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
42
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. (16543195)
2006
43
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
2006
44
Anesthetic implications of Jacobsen syndrome. (16409533)
2006
45
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. (16419136)
2006
46
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
47
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
48
Ocular findings in Jacobsen syndrome. (15088047)
2004
49
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. (15054845)
2004
50
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. (10767345)
2000

Variations for Jacobsen Syndrome

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Expression for genes affiliated with Jacobsen Syndrome

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Search GEO for disease gene expression data for Jacobsen Syndrome.

Pathways for genes affiliated with Jacobsen Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.2CBL, ETS1, JAK3
2
Show member pathways
9.2CBL, ETS1, JAK3
39.1CBL, FLI1, JAK3

GO Terms for genes affiliated with Jacobsen Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1locomotory behaviorGO:00076269.4BSX, SHANK3
2positive regulation of long-term synaptic potentiationGO:19002739.0NRGN, SHANK3

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.8BSX, ETS1, FLI1
2transcription factor activity, sequence-specific DNA bindingGO:00037008.7BSX, CBL, ETS1, FLI1

Sources for Jacobsen Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet