DEL
MCID: JCB001
MIFTS: 49

Jacobsen Syndrome (DEL) malady

Eye, Fetal, Blood categories

Summaries for Jacobsen Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 problems and attention deficit-hyperactivity disorder (adhd). last updated: 9/20/2010

MalaCards: Jacobsen Syndrome, also known as partial 11q monosomy syndrome, is related to acute leukemia and paris-trousseau thrombocytopenia, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, bone marrow failure/pancytopenia and thrombocytopenia/thrombopenia. An important gene associated with Jacobsen Syndrome is JBS (Jacobsen syndrome), and among its related pathways are IL-2 Signaling pathway and CNTF Signaling. The compound phosphatidylinositol have been mentioned in the context of this disorder. Affiliated tissues include heart.

Genetics Home Reference:21 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:64 Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from... more...

Description from OMIM:47 147791

Aliases & Classifications for Jacobsen Syndrome

Sources:
49Orphanet, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 22GTR, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Blood


Characteristics (Orphanet epidemiological data):

49
jacobsen syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

jacobsen syndrome 43 20 21 47 49
partial 11q monosomy syndrome 43 22
jacobsen distal 11q deletion syndrome 61
paris-trousseau thrombocytopenia 61
chromosome 11q deletion syndrome 43
11q terminal deletion disorder 21
gene deletion abnormality 61
jacobsen thrombocytopenia 21
11q23 deletion disorder 21
11q- deletion syndrome 21
telomeric deletion 11q 49
11q deletion disorder 21
11q deletion syndrome 21
partial deletion 11q 49
chromosome deletion 61
distal deletion 11q 49
distal monosomy 11q 49
monosomy 11qter 49
del 49
jbs 43


External Ids:

OMIM47 147791
MESH via Orphanet36 D054868
ICD10 via Orphanet26 Q93.5
SNOMED-CT via Orphanet58 4325000
UMLS via Orphanet62 C0795841

Related Diseases for Jacobsen Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Jacobsen Syndrome:



Diseases related to jacobsen syndrome

Clinical Features for Jacobsen Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

147791

Clinical synopsis from OMIM:

147791

Symptoms:

49 (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

Drugs & Therapeutics for Jacobsen Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Jacobsen Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Jacobsen Syndrome:

id Genetic test Affiliating Genes
1 Jacobsen Syndrome20
2 11q Partial Monosomy Syndrome22

Anatomical Context for Jacobsen Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Jacobsen Syndrome:

33
Heart

Animal Models for Jacobsen Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Jacobsen Syndrome

Sources:
51PubMed
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Articles related to Jacobsen Syndrome:

(show top 50)    (show all 51)
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
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
11
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
2011
12
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
2011
13
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
2010
14
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
2010
15
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
2010
16
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
2009
17
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
2009
18
Jacobsen syndrome. (19267933)
2009
19
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
20
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
21
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
22
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). (18618998)
2008
23
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. (19000322)
2008
24
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
2007
25
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
26
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
27
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
28
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
2006
29
Anesthetic implications of Jacobsen syndrome. (16409533)
2006
30
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. (16419136)
2006
31
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. (16543195)
2006
32
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
33
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
34
Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. (15266617)
2004
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

Genetic Variations for Jacobsen Syndrome

Expression for genes affiliated with Jacobsen Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Jacobsen Syndrome

Search GEO for disease gene expression data for Jacobsen Syndrome.

Pathways for genes affiliated with Jacobsen Syndrome

Sources:
38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3CBL, JAK3
2
Hide members
8.9ETS1, CBL, JAK3
38.9ETS1, JAK3, CBL
48.9JAK3, CBL, ETS1

Compounds for genes affiliated with Jacobsen Syndrome

Sources:
45Novoseek
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Compounds related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol458.5ETS1, CBL, NRGN, JAK3

GO Terms for genes affiliated with Jacobsen Syndrome

Sources:
16Gene Ontology
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Molecular functions related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037008.2ETS1, CBL, FLI1, BSX

Products for genes affiliated with Jacobsen Syndrome

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Sources for Jacobsen Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet