JBS
MCID: JCB001
MIFTS: 59

Jacobsen Syndrome (JBS) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Blood diseases categories

Summaries for Jacobsen Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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. the signs and symptoms of jacobsen syndrome vary considerably. most affected individuals have delayed development of motor skills and speech, cognitive impairment and learning difficulties, distinctive facial features, and a bleeding disorder called paris-trousseau syndrome. many also have behavioral problemsĀ and attention deficit-hyperactivity disorder (adhd). last updated: 9/20/2010

MalaCards: Jacobsen Syndrome, also known as partial 11q monosomy syndrome, is related to johanson-blizzard syndrome and thrombocytopenia, and has symptoms including inguinal/inguinoscrotal/crural hernia, flat palm and upper limb polydactyly/hexadactyly. An important gene associated with Jacobsen Syndrome is JBS (Jacobsen syndrome), and among its related pathways are Jak-STAT signaling pathway and IL2-mediated signaling events. The compounds glutamate and nitric oxide have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and eye, and related mouse phenotypes are growth/size/body and cellular.

Wikipedia:66 Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from... more...

Description from OMIM:48 147791

Aliases & Classifications for Jacobsen Syndrome

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44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 50Orphanet, 23GTR, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
jacobsen syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

jacobsen syndrome 44 21 22 48 50
partial 11q monosomy syndrome 44 23
jacobsen distal 11q deletion syndrome 63
paris-trousseau thrombocytopenia 63
chromosome 11q deletion syndrome 44
11q terminal deletion disorder 22
jacobsen thrombocytopenia 22
gene deletion abnormality 63
11q23 deletion disorder 22
11q- deletion syndrome 22
telomeric deletion 11q 50
11q deletion disorder 22
11q deletion syndrome 22
partial deletion 11q 50
distal monosomy 11q 50
distal deletion 11q 50
chromosome deletion 63
monosomy 11qter 50
del(11)(q23.3) 50
del(11)(qter) 50
jbs 44


External Ids:

OMIM48 147791
MESH via Orphanet37 D054868
ICD10 via Orphanet27 Q93.5
SNOMED-CT via Orphanet60 4325000
UMLS via Orphanet64 C0795841

Related Diseases for Jacobsen Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

147791

Clinical features from OMIM:

147791

Symptoms:

50 (show all 75)
  • inguinal/inguinoscrotal/crural hernia
  • flat palm
  • upper limb polydactyly/hexadactyly
  • talipes-varus/metatarsal varus
  • eczema
  • duodenal atresia/stenosis/megaduodenum
  • gastric/pyloric stenosis
  • scoliosis
  • webbed neck/pterygium colli
  • high vaulted/narrow palate
  • broad nose/nasal bridge
  • ectropion/entropion/eyelid eversion
  • coloboma of the eyelid
  • cataract/lens opacification
  • coloboma of iris
  • trigonocephaly
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • intrauterine growth retardation
  • death in infancy
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • psychosis/schizophrenia/maniac disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • corpus callosum/septum pellucidum total/partial agenesis
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • multicystic kidney/renal dysplasia
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • hypoplastic left heart/ventricle
  • spina bifida
  • annular pancreas
  • anus ectopia/anteposition/malposition
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • micrognathia/retrognathia/micrognathism/retrognathism
  • strabismus/squint
  • absent/decreased/thin eyebrows
  • ptosis
  • epicanthic folds
  • short/small nose
  • anteverted nares/nostrils
  • thick columella
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypertelorism
  • 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
  • long philtrum
  • philtrum flat/large/featureless/absent cupidon bows
  • low set ears/posteriorly rotated ears
  • 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
  • long/prehensile big toe
  • clinodactyly of toes
  • 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
  • prematurity

Drugs & Therapeutics for Jacobsen Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Jacobsen Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Jacobsen Syndrome:

id Genetic test Affiliating Genes
1 Jacobsen Syndrome21
2 11q Partial Monosomy Syndrome23

Anatomical Context for Jacobsen Syndrome

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34MalaCards
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MalaCards organs/tissues related to Jacobsen Syndrome:

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

Animal Models for Jacobsen Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Jacobsen Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6SHANK3, FLI1, CBL, ETS1, BSX
2MP:00053847.2ETS1, CBL, JAK3, FLI1, BSX

Publications for Jacobsen Syndrome

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53PubMed
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Articles related to Jacobsen Syndrome:

(show all 50)
idTitleAuthorsYear
1
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
2
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (23586500)
2013
3
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. (24319861)
2013
4
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. (24192682)
2013
5
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
6
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. (22139980)
2012
7
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. (22302716)
2012
8
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. (22876581)
2012
9
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. (22965935)
2012
10
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. (22887642)
2012
11
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
12
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
2011
13
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
2011
14
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
2010
15
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
2010
16
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
2010
17
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
2009
18
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
2009
19
Jacobsen syndrome. (19267933)
2009
20
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
21
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
22
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
23
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). (18618998)
2008
24
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. (19000322)
2008
25
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
2007
26
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
27
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
28
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
29
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
2006
30
Anesthetic implications of Jacobsen syndrome. (16409533)
2006
31
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. (16419136)
2006
32
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. (16543195)
2006
33
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
34
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
35
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. (15054845)
2004
36
Ocular findings in Jacobsen syndrome. (15088047)
2004
37
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. (10767345)
2000
38
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. (10494099)
1999
39
Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. (9927483)
1999
40
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. (9508241)
1998
41
Nuchal thickening in Jacobsen syndrome. (9819862)
1998
42
Jacobsen syndrome: chromosome deletion at 11q23. (9821738)
1998
43
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
44
Prenatal ultrasonographic findings associated with Jacobsen syndrome. (7760474)
1995
45
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. (7881408)
1994
46
Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. (1296516)
1992
47
Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. (1551671)
1992
48
Partial deletion of the long arm chromosome 11 in Jacobsen syndrome. (3759192)
1986
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Jacobsen Syndrome

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Pathways for genes affiliated with Jacobsen Syndrome

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 55R&D Systems, 61Thomson Reuters, 54QIAGEN, 56Reactome, 5Cell Signaling Technology
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Compounds for genes affiliated with Jacobsen Syndrome

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate469.2NRGN, CBL, SHANK3
2nitric oxide46 25 1210.9NRGN, ETS1, JAK3
3phosphatidylinositol468.6NRGN, ETS1, CBL, JAK3
4threonine468.6JAK3, CBL, ETS1
5tyrosine468.5JAK3, CBL, ETS1, NRGN
6serine468.4FLI1, JAK3, CBL, ETS1

GO Terms for genes affiliated with Jacobsen Syndrome

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17Gene Ontology
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Biological processes related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription from RNA polymerase II promoterGO:0459448.6ETS1, JAK3, BSX

Molecular functions related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SH3 domain bindingGO:0171249.5CBL, SHANK3
2sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0009819.0ETS1, FLI1
3sequence-specific DNA bindingGO:0435658.4BSX, FLI1, ETS1
4sequence-specific DNA binding transcription factor activityGO:0037008.0ETS1, CBL, FLI1, BSX

Products for genes affiliated with Jacobsen Syndrome

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Sources for Jacobsen Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet