MCID: JCB001
MIFTS: 46

Jacobsen Syndrome malady

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

Aliases & Classifications for Jacobsen Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Jacobsen Syndrome:

Name: Jacobsen Syndrome 49 11 45 22 23 51
Partial 11q Monosomy Syndrome 45 24
11q- Deletion Syndrome 22 23
Jacobsen Distal 11q Deletion Syndrome 65
Paris-Trousseau Thrombocytopenia 65
Chromosome 11q Deletion Syndrome 45
11q Terminal Deletion Disorder 23
Johanson-Blizzard Syndrome 65
Jacobsen Thrombocytopenia 23
Chromosome 11q Deletion 45
11q23 Deletion Disorder 23
Telomeric Deletion 11q 51
11q Deletion Disorder 23
 
11q Deletion Syndrome 23
Partial Monosomy 11q 45
Distal Monosomy 11q 51
Distal Deletion 11q 51
Monosomy 11qter 51
Del(11)(q23.3) 51
Del(11)(qter) 51
Monosomy 11q 45
Deletion 11q 45
11q Monosomy 45
11q Deletion 45
Jbs 45

Characteristics:

Orphanet epidemiological data:

51
jacobsen syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

61
jacobsen syndrome:
Inheritance: sporadic


Classifications:



External Ids:

OMIM49 147791
Orphanet51 2308
UMLS via Orphanet66 C0795841
ICD10 via Orphanet28 Q93.5
MESH via Orphanet37 D054868
UMLS65 C0795841, C1956093

Summaries for Jacobsen Syndrome

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NIH Rare Diseases:45 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 cognitive impairment, bone marrow hypocellularity and thrombocytopenia. An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome), and among its related pathways are IL2-mediated signaling events and CNTF Signaling. Affiliated tissues include heart, bone and testes, and related mouse phenotype endocrine/exocrine gland.

Genetics Home Reference:23 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:68 Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from... more...

Description from OMIM:49 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:

 51 (show all 75)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • bone marrow failure/pancytopenia
  • thrombocytopenia/thrombopenia
  • insterstitial/subtelomeric microdeletion/deletion
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • high forehead
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • strabismus/squint
  • absent/decreased/thin eyebrows
  • ptosis
  • epicanthic folds
  • short/small nose
  • anteverted nares/nostrils
  • thick columella
  • long philtrum
  • philtrum flat/large/featureless/absent cupidon bows
  • low set ears/posteriorly rotated ears
  • small/hypoplastic/adherent/absent ear lobe
  • short neck
  • rib number anomalies
  • abnormal vertebral size/shape
  • syndactyly of fingers/interdigital palm
  • short foot/brachydactyly of toes
  • flat foot
  • syndactyly of toes
  • clinodactyly of toes
  • long/prehensile big toe
  • broad/bifid big toe
  • constipation
  • ventricular septal defect/interventricular communication
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • hyperactivity/attention deficit
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • short stature/dwarfism/nanism
  • prematurity
  • trigonocephaly
  • coloboma of iris
  • cataract/lens opacification
  • coloboma of the eyelid
  • ectropion/entropion/eyelid eversion
  • broad nose/nasal bridge
  • high vaulted/narrow palate
  • webbed neck/pterygium colli
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • flat palm
  • upper limb polydactyly/hexadactyly
  • talipes-varus/metatarsal varus
  • eczema
  • gastric/pyloric stenosis
  • duodenal atresia/stenosis/megaduodenum
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anus ectopia/anteposition/malposition
  • annular pancreas
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • hypoplastic left heart/ventricle
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • multicystic kidney/renal dysplasia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • spina bifida
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychosis/schizophrenia/maniac disorder
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • death in infancy
  • intrauterine growth retardation

HPO human phenotypes related to Jacobsen Syndrome:

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

UMLS symptoms related to Jacobsen Syndrome:


muscle spasticity, joint laxity

Drugs & Therapeutics for Jacobsen Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Metabolic Syndrome in Patients With First-episode SchizophreniaCompletedNCT00957294

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 Jacobsen Syndrome22

Anatomical Context for Jacobsen Syndrome

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MalaCards organs/tissues related to Jacobsen Syndrome:

33
Heart, Bone, Testes, Kidney, Bone marrow, Eye, Pancreas

Animal Models for Jacobsen Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Jacobsen Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.5BSX, CBL, ETS1, FLI1, JAK3

Publications for Jacobsen Syndrome

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Articles related to Jacobsen Syndrome:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. (26979507)
2016
2
Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. (26997943)
2016
3
Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome. (26093983)
2015
4
Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. (26285164)
2015
5
A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex. (26056793)
2015
6
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. (26566921)
2015
7
Jacobsen syndrome detected by noninvasive prenatal testing. (25569015)
2015
8
Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size. (25425441)
2015
9
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. (25058499)
2014
10
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. (25288895)
2014
11
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
12
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (23586500)
2013
13
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. (24319861)
2013
14
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. (24192682)
2013
15
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. (22139980)
2012
16
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. (22302716)
2012
17
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. (22876581)
2012
18
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. (22965935)
2012
19
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. (22887642)
2012
20
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
2011
21
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
2011
22
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
2010
23
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
2010
24
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
2010
25
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
2009
26
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
2009
27
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
28
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
29
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). (18618998)
2008
30
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
2007
31
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
32
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
33
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
34
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
2006
35
Anesthetic implications of Jacobsen syndrome. (16409533)
2006
36
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. (16419136)
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
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
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
Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. (9927483)
1999
42
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. (9508241)
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
2
Show member pathways
8.9CBL, ETS1, JAK3
38.9CBL, ETS1, JAK3
48.9CBL, ETS1, JAK3

GO Terms for genes affiliated with Jacobsen Syndrome

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Sources for Jacobsen Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet