MCID: JCB001
MIFTS: 49

Jacobsen Syndrome malady

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

Aliases & Classifications for Jacobsen Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 12diseasecard, 66UMLS, 25GTR, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Jacobsen Syndrome:

Name: Jacobsen Syndrome 50 46 23 24 52 12
Partial 11q Monosomy Syndrome 46 25
11q- Deletion Syndrome 23 24
Jacobsen Distal 11q Deletion Syndrome 66
Chromosome 11q Deletion Syndrome 46
Paris-Trousseau Thrombocytopenia 66
11q Terminal Deletion Disorder 24
Johanson-Blizzard Syndrome 66
Jacobsen Thrombocytopenia 24
11q23 Deletion Disorder 24
Chromosome 11q Deletion 46
Telomeric Deletion 11q 52
11q Deletion Disorder 24
 
11q Deletion Syndrome 24
Partial Monosomy 11q 46
Distal Monosomy 11q 52
Distal Deletion 11q 52
Monosomy 11qter 52
Del(11)(q23.3) 52
Del(11)(qter) 52
Deletion 11q 46
11q Monosomy 46
11q Deletion 46
Monosomy 11q 46
Jbs 46

Characteristics:

Orphanet epidemiological data:

52
jacobsen syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

62
jacobsen syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 147791
Orphanet52 ORPHA2308
UMLS via Orphanet67 C0795841
ICD10 via Orphanet29 Q93.5
MESH via Orphanet38 D054868

Summaries for Jacobsen Syndrome

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NIH Rare Diseases:46 Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. signs and symptoms vary among affected people but often include paris-trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment. other features may include compulsive behavior; attention deficit-hyperactivity disorder (adhd); congenital heart defects; short stature; and/or skeletal abnormalities. in most cases, the deletion that causes jacobsen syndrome is not inherited and occurs randomly due to an error in cell division. in some cases, an affected person inherits the deletion from an unaffected parent with a balanced translocation. treatment depends on the specific symptoms in each affected person. last updated: 6/22/2015

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 IL2-mediated signaling events and NF-kappaB Signaling. Affiliated tissues include heart, bone and eye, and related mouse phenotype endocrine/exocrine gland.

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

Description from OMIM:50 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

Symptoms:

 52 (show all 76)
  • multicystic kidney dysplasia
  • inguinal hernia
  • cryptorchidism
  • hydronephrosis
  • abnormality of the palate
  • trigonocephaly
  • macrocephaly
  • epicanthus
  • hypertelorism
  • smooth philtrum
  • facial asymmetry
  • long philtrum
  • high forehead
  • low-set, posteriorly rotated ears
  • wide nasal bridge
  • anteverted nares
  • webbed neck
  • short neck
  • microcornea
  • strabismus
  • downslanted palpebral fissures
  • ptosis
  • cataract
  • iris coloboma
  • cleft eyelid
  • ectropion
  • missing ribs
  • eczema
  • hand polydactyly
  • intellectual disability
  • seizures
  • global developmental delay
  • agenesis of corpus callosum
  • pachygyria
  • growth delay
  • intrauterine growth retardation
  • death in infancy
  • premature birth
  • ventricular septal defect
  • aortic valve stenosis
  • coarctation of aorta
  • annular pancreas
  • pes planus
  • toe syndactyly
  • short toe
  • long hallux
  • toe clinodactyly
  • thrombocytopenia
  • talipes
  • frontal bossing
  • constipation
  • pyloric stenosis
  • cerebral atrophy
  • ventriculomegaly
  • recurrent respiratory infections
  • duodenal atresia
  • spina bifida
  • intestinal malrotation
  • scoliosis
  • hip dislocation
  • short nose
  • abnormal form of the vertebral bodies
  • short stature
  • abnormality of the anus
  • hypoplastic left heart
  • ectopic anus
  • bone marrow hypocellularity
  • finger syndactyly
  • attention deficit hyperactivity disorder
  • bipolar affective disorder
  • feeding difficulties in infancy
  • aplasia/hypoplasia of the earlobes
  • broad hallux phalanx
  • broad columella
  • schizophrenia
  • aplasia/hypoplasia of the eyebrow

HPO human phenotypes related to Jacobsen Syndrome:

(show all 113)
id Description Frequency HPO Source Accession
1 thrombocytopenia hallmark (90%) HP:0001873
2 bone marrow hypocellularity hallmark (90%) HP:0005528
3 cognitive impairment hallmark (90%) HP:0100543
4 cryptorchidism typical (50%) HP:0000028
5 macrocephaly typical (50%) HP:0000256
6 epicanthus typical (50%) HP:0000286
7 hypertelorism typical (50%) HP:0000316
8 facial asymmetry typical (50%) HP:0000324
9 long philtrum typical (50%) HP:0000343
10 micrognathia typical (50%) HP:0000347
11 high forehead typical (50%) HP:0000348
12 low-set, posteriorly rotated ears typical (50%) HP:0000368
13 anteverted nares typical (50%) HP:0000463
14 short neck typical (50%) HP:0000470
15 strabismus typical (50%) HP:0000486
16 downslanted palpebral fissures typical (50%) HP:0000494
17 ptosis typical (50%) HP:0000508
18 abnormality of the ribs typical (50%) HP:0000772
19 premature birth typical (50%) HP:0001622
20 ventricular septal defect typical (50%) HP:0001629
21 pes planus typical (50%) HP:0001763
22 toe syndactyly typical (50%) HP:0001770
23 short toe typical (50%) HP:0001831
24 preaxial foot polydactyly typical (50%) HP:0001841
25 long hallux typical (50%) HP:0001847
26 frontal bossing typical (50%) HP:0002007
27 constipation typical (50%) HP:0002019
28 ventriculomegaly typical (50%) HP:0002119
29 short nose typical (50%) HP:0003196
30 abnormal form of the vertebral bodies typical (50%) HP:0003312
31 short stature typical (50%) HP:0004322
32 finger syndactyly typical (50%) HP:0006101
33 attention deficit hyperactivity disorder typical (50%) HP:0007018
34 aplasia/hypoplasia of the earlobes typical (50%) HP:0009906
35 broad columella typical (50%) HP:0010761
36 tibial deviation of toes typical (50%) HP:0100499
37 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
38 multicystic kidney dysplasia occasional (7.5%) HP:0000003
39 abnormality of the palate occasional (7.5%) HP:0000174
40 trigonocephaly occasional (7.5%) HP:0000243
41 webbed neck occasional (7.5%) HP:0000465
42 cataract occasional (7.5%) HP:0000518
43 iris coloboma occasional (7.5%) HP:0000612
44 cleft eyelid occasional (7.5%) HP:0000625
45 eczema occasional (7.5%) HP:0000964
46 hand polydactyly occasional (7.5%) HP:0001161
47 seizures occasional (7.5%) HP:0001250
48 intrauterine growth retardation occasional (7.5%) HP:0001511
49 abnormality of the aortic valve occasional (7.5%) HP:0001646
50 abnormality of the aorta occasional (7.5%) HP:0001679
51 annular pancreas occasional (7.5%) HP:0001734
52 talipes occasional (7.5%) HP:0001883
53 pyloric stenosis occasional (7.5%) HP:0002021
54 cerebral cortical atrophy occasional (7.5%) HP:0002120
55 abnormality of neuronal migration occasional (7.5%) HP:0002269
56 spina bifida occasional (7.5%) HP:0002414
57 intestinal malrotation occasional (7.5%) HP:0002566
58 scoliosis occasional (7.5%) HP:0002650
59 abnormality of the hip bone occasional (7.5%) HP:0003272
60 hernia of the abdominal wall occasional (7.5%) HP:0004299
61 hypoplastic left heart occasional (7.5%) HP:0004383
62 ectopic anus occasional (7.5%) HP:0004397
63 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
64 urogenital fistula occasional (7.5%) HP:0100589
65 duodenal stenosis occasional (7.5%) HP:0100867
66 cryptorchidism HP:0000028
67 hypospadias HP:0000047
68 clitoral hypoplasia HP:0000060
69 labial hypoplasia HP:0000066
70 hydrocephalus HP:0000238
71 trigonocephaly HP:0000243
72 microcephaly HP:0000252
73 macrocephaly HP:0000256
74 epicanthus HP:0000286
75 hypertelorism HP:0000316
76 micrognathia HP:0000347
77 low-set ears HP:0000369
78 anteverted nares HP:0000463
79 short neck HP:0000470
80 microcornea HP:0000482
81 strabismus HP:0000486
82 abnormality of the eyelashes HP:0000499
83 telecanthus HP:0000506
84 ptosis HP:0000508
85 chorioretinal coloboma HP:0000567
86 microphthalmia HP:0000568
87 nasolacrimal duct obstruction HP:0000579
88 iris coloboma HP:0000612
89 cleft eyelid HP:0000625
90 amblyopia HP:0000646
91 optic atrophy HP:0000648
92 pectus excavatum HP:0000767
93 missing ribs HP:0000921
94 macular hypoplasia HP:0001104
95 brachydactyly syndrome HP:0001156
96 intellectual disability HP:0001249
97 spasticity HP:0001257
98 holoprosencephaly HP:0001360
99 flexion contracture HP:0001371
100 failure to thrive HP:0001508
101 intrauterine growth retardation HP:0001511
102 ventricular septal defect HP:0001629
103 atria septal defect HP:0001631
104 annular pancreas HP:0001734
105 thrombocytopenia HP:0001873
106 pyloric stenosis HP:0002021
107 recurrent respiratory infections HP:0002205
108 short nose HP:0003196
109 clinodactyly of the 5th finger HP:0004209
110 depressed nasal bridge HP:0005280
111 flat occiput HP:0005469
112 infantile muscular hypotonia HP:0008947
113 u-shaped upper lip vermilion HP:0010806

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 recruitingNCT02824588Phase 0

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 Syndrome25
2 Jacobsen Syndrome23

Anatomical Context for Jacobsen Syndrome

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MalaCards organs/tissues related to Jacobsen Syndrome:

34
Heart, Bone, Eye, Pancreas, Bone marrow, Kidney, Testes

Animal Models for Jacobsen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jacobsen Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.9BSX, 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
1
Show member pathways
9.3CBL, JAK3
28.9CBL, FLI1, JAK3
3
Show member pathways
8.8CBL, ETS1, JAK3
48.8CBL, ETS1, JAK3
58.8CBL, ETS1, 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:19002739.2NRGN, 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:00037008.6BSX, CBL, ETS1, FLI1

Sources for Jacobsen Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet