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, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Jacobsen Syndrome:

Name: Jacobsen Syndrome 51 47 24 25 53 12
Partial 11q Monosomy Syndrome 47 26
11q- Deletion Syndrome 24 25
Jacobsen Distal 11q Deletion Syndrome 67
Paris-Trousseau Thrombocytopenia 67
Chromosome 11q Deletion Syndrome 47
11q Terminal Deletion Disorder 25
Johanson-Blizzard Syndrome 67
Jacobsen Thrombocytopenia 25
Chromosome 11q Deletion 47
11q23 Deletion Disorder 25
Telomeric Deletion 11q 53
11q Deletion Disorder 25
 
11q Deletion Syndrome 25
Partial Monosomy 11q 47
Distal Monosomy 11q 53
Distal Deletion 11q 53
Monosomy 11qter 53
Del(11)(q23.3) 53
Del(11)(qter) 53
Monosomy 11q 47
Deletion 11q 47
11q Monosomy 47
11q Deletion 47
Jbs 47

Characteristics:

Orphanet epidemiological data:

53
jacobsen syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

63
jacobsen syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM51 147791
Orphanet53 ORPHA2308
MESH via Orphanet39 D054868
UMLS via Orphanet68 C0795841
ICD10 via Orphanet30 Q93.5

Summaries for Jacobsen Syndrome

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NIH Rare Diseases:47 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:70 Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from... more...

Description from OMIM:51 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 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:

 63 53 (show all 116)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001873
2 bone marrow hypocellularity63 53 hallmark (90%) Very frequent (99-80%) HP:0005528
3 cognitive impairment63 hallmark (90%) HP:0100543
4 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
5 macrocephaly63 53 typical (50%) Frequent (79-30%) HP:0000256
6 epicanthus63 53 typical (50%) Frequent (79-30%) HP:0000286
7 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
8 facial asymmetry63 53 typical (50%) Frequent (79-30%) HP:0000324
9 long philtrum63 53 typical (50%) Frequent (79-30%) HP:0000343
10 micrognathia63 typical (50%) HP:0000347
11 high forehead63 53 typical (50%) Frequent (79-30%) HP:0000348
12 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
13 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
14 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
15 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
16 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
17 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
18 abnormality of the ribs63 typical (50%) HP:0000772
19 premature birth63 53 typical (50%) Frequent (79-30%) HP:0001622
20 ventricular septal defect63 53 typical (50%) Frequent (79-30%) HP:0001629
21 pes planus63 53 typical (50%) Frequent (79-30%) HP:0001763
22 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
23 short toe63 53 typical (50%) Frequent (79-30%) HP:0001831
24 preaxial foot polydactyly63 typical (50%) HP:0001841
25 long hallux63 53 typical (50%) Frequent (79-30%) HP:0001847
26 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
27 constipation63 53 typical (50%) Frequent (79-30%) HP:0002019
28 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
29 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
30 abnormal form of the vertebral bodies63 53 typical (50%) Frequent (79-30%) HP:0003312
31 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
32 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
33 attention deficit hyperactivity disorder63 53 typical (50%) Frequent (79-30%) HP:0007018
34 aplasia/hypoplasia of the earlobes63 53 typical (50%) Frequent (79-30%) HP:0009906
35 broad columella63 53 typical (50%) Frequent (79-30%) HP:0010761
36 tibial deviation of toes63 typical (50%) HP:0100499
37 aplasia/hypoplasia of the eyebrow63 53 typical (50%) Frequent (79-30%) HP:0100840
38 multicystic kidney dysplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0000003
39 abnormality of the palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000174
40 trigonocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000243
41 webbed neck63 53 occasional (7.5%) Occasional (29-5%) HP:0000465
42 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
43 iris coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000612
44 cleft eyelid63 53 occasional (7.5%) Occasional (29-5%) HP:0000625
45 eczema63 53 occasional (7.5%) Occasional (29-5%) HP:0000964
46 hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001161
47 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
48 intrauterine growth retardation63 53 occasional (7.5%) Occasional (29-5%) HP:0001511
49 abnormality of the aortic valve63 occasional (7.5%) HP:0001646
50 abnormality of the aorta63 occasional (7.5%) HP:0001679
51 annular pancreas63 53 occasional (7.5%) Occasional (29-5%) HP:0001734
52 talipes63 53 occasional (7.5%) Occasional (29-5%) HP:0001883
53 pyloric stenosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002021
54 cerebral cortical atrophy63 occasional (7.5%) HP:0002120
55 abnormality of neuronal migration63 occasional (7.5%) HP:0002269
56 spina bifida63 53 occasional (7.5%) Occasional (29-5%) HP:0002414
57 intestinal malrotation63 53 occasional (7.5%) Occasional (29-5%) HP:0002566
58 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
59 abnormality of the hip bone63 occasional (7.5%) HP:0003272
60 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
61 hypoplastic left heart63 53 occasional (7.5%) Occasional (29-5%) HP:0004383
62 ectopic anus63 53 occasional (7.5%) Occasional (29-5%) HP:0004397
63 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
64 urogenital fistula63 occasional (7.5%) HP:0100589
65 duodenal stenosis63 occasional (7.5%) HP:0100867
66 hypospadias63 HP:0000047
67 clitoral hypoplasia63 HP:0000060
68 labial hypoplasia63 HP:0000066
69 hydrocephalus63 HP:0000238
70 microcephaly63 HP:0000252
71 low-set ears63 HP:0000369
72 microcornea63 53 Frequent (79-30%) HP:0000482
73 abnormality of the eyelashes63 HP:0000499
74 telecanthus63 HP:0000506
75 chorioretinal coloboma63 HP:0000567
76 microphthalmia63 HP:0000568
77 nasolacrimal duct obstruction63 HP:0000579
78 amblyopia63 HP:0000646
79 optic atrophy63 HP:0000648
80 pectus excavatum63 HP:0000767
81 missing ribs63 53 Frequent (79-30%) HP:0000921
82 macular hypoplasia63 HP:0001104
83 brachydactyly syndrome63 HP:0001156
84 intellectual disability63 53 Very frequent (99-80%) HP:0001249
85 spasticity63 HP:0001257
86 holoprosencephaly63 HP:0001360
87 flexion contracture63 HP:0001371
88 failure to thrive63 HP:0001508
89 atria septal defect63 HP:0001631
90 recurrent respiratory infections63 53 Frequent (79-30%) HP:0002205
91 clinodactyly of the 5th finger63 HP:0004209
92 depressed nasal bridge63 HP:0005280
93 flat occiput63 HP:0005469
94 infantile muscular hypotonia63 HP:0008947
95 u-shaped upper lip vermilion63 HP:0010806
96 inguinal hernia53 Occasional (29-5%)
97 hydronephrosis53 Occasional (29-5%)
98 smooth philtrum53 Frequent (79-30%)
99 wide nasal bridge53 Occasional (29-5%)
100 ectropion53 Occasional (29-5%)
101 global developmental delay53 Very frequent (99-80%)
102 agenesis of corpus callosum53 Occasional (29-5%)
103 pachygyria53 Occasional (29-5%)
104 growth delay53 Very frequent (99-80%)
105 death in infancy53 Occasional (29-5%)
106 aortic valve stenosis53 Occasional (29-5%)
107 coarctation of aorta53 Occasional (29-5%)
108 toe clinodactyly53 Frequent (79-30%)
109 cerebral atrophy53 Occasional (29-5%)
110 duodenal atresia53 Occasional (29-5%)
111 hip dislocation53 Occasional (29-5%)
112 abnormality of the anus53 Occasional (29-5%)
113 bipolar affective disorder53 Occasional (29-5%)
114 feeding difficulties in infancy53 Very frequent (99-80%)
115 broad hallux phalanx53 Frequent (79-30%)
116 schizophrenia53 Occasional (29-5%)

UMLS symptoms related to Jacobsen Syndrome:


joint laxity, muscle spasticity

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 Syndrome26
2 Jacobsen Syndrome24

Anatomical Context for Jacobsen Syndrome

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MalaCards organs/tissues related to Jacobsen Syndrome:

35
Heart, Testes, Bone, Eye, Pancreas, Bone marrow, Kidney

Animal Models for Jacobsen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jacobsen Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.2BSX, CBL, ETS1, FLI1, JAK3

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
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. (25058499)
2014
12
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
13
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. (25288895)
2014
14
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. (24192682)
2013
15
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (23586500)
2013
16
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. (24319861)
2013
17
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. (22302716)
2012
18
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. (22876581)
2012
19
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. (22965935)
2012
20
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
21
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. (22139980)
2012
22
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
2011
23
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
2011
24
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
2010
25
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
2010
26
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
2010
27
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
2009
28
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
2009
29
Jacobsen syndrome. (19267933)
2009
30
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
31
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
32
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
33
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
2007
34
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
35
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. (16543195)
2006
36
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
2006
37
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
38
Ocular findings in Jacobsen syndrome. (15088047)
2004
39
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. (15054845)
2004
40
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. (10494099)
1999
41
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. (9508241)
1998
42
Jacobsen syndrome: chromosome deletion at 11q23. (9821738)
1998
43
Nuchal thickening in Jacobsen syndrome. (9819862)
1998
44
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. (8880580)
1996
45
Prenatal ultrasonographic findings associated with Jacobsen syndrome. (7760474)
1995
46
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. (7881408)
1994
47
Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. (1296516)
1992
48
Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. (1551671)
1992
49
Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome. (6511057)
1984
50
Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. (604495)
1977

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:00076269.1BSX, SHANK3
2positive regulation of long-term synaptic potentiationGO:19002738.9NRGN, SHANK3

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1BSX, ETS1, FLI1
2transcription factor activity, sequence-specific DNA bindingGO:00037008.4BSX, CBL, ETS1, FLI1

Sources for Jacobsen Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet