JBS
MCID: JCB001
MIFTS: 60

Jacobsen Syndrome (JBS) malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases, Blood diseases categories
Download this MalaCard

Summaries for Jacobsen Syndrome

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 based summary: Jacobsen Syndrome, also known as partial 11q monosomy syndrome, is related to johanson-blizzard syndrome and 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 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.

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

Description from OMIM:46 147791

Aliases & Classifications for Jacobsen Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 22GTR, 62UMLS, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Jacobsen Syndrome, Aliases & Descriptions:

Name: Jacobsen Syndrome 42 20 21 46 48
Partial 11q Monosomy Syndrome 42 22
Jacobsen Distal 11q Deletion Syndrome 62
Chromosome 11q Deletion Syndrome 42
Paris-Trousseau Thrombocytopenia 62
11q Terminal Deletion Disorder 21
Gene Deletion Abnormality 62
Jacobsen Thrombocytopenia 21
11q23 Deletion Disorder 21
11q- Deletion Syndrome 21
 
Telomeric Deletion 11q 48
11q Deletion Syndrome 21
11q Deletion Disorder 21
Partial Deletion 11q 48
Distal Deletion 11q 48
Distal Monosomy 11q 48
Monosomy 11qter 48
Del(11)(q23.3) 48
Del(11)(qter) 48
Jbs 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
jacobsen syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


External Ids:

UMLS via Orphanet63 C0795841
OMIM46 147791
MESH via Orphanet35 D054868
ICD10 via Orphanet26 Q93.5

Related Diseases for Jacobsen Syndrome

About this section

Graphical network of the top 20 diseases related to Jacobsen Syndrome:



Diseases related to jacobsen syndrome

Symptoms for Jacobsen Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

147791

Clinical features from OMIM:

147791

Symptoms:

48 (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 114)
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 abnormality of immune system physiology typical (50%) HP:0010978
37 tibial deviation of toes typical (50%) HP:0100499
38 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
39 multicystic kidney dysplasia occasional (7.5%) HP:0000003
40 abnormality of the palate occasional (7.5%) HP:0000174
41 trigonocephaly occasional (7.5%) HP:0000243
42 webbed neck occasional (7.5%) HP:0000465
43 cataract occasional (7.5%) HP:0000518
44 iris coloboma occasional (7.5%) HP:0000612
45 cleft eyelid occasional (7.5%) HP:0000625
46 eczema occasional (7.5%) HP:0000964
47 hand polydactyly occasional (7.5%) HP:0001161
48 seizures occasional (7.5%) HP:0001250
49 intrauterine growth retardation occasional (7.5%) HP:0001511
50 abnormality of the aortic valve occasional (7.5%) HP:0001646
51 abnormality of the aorta occasional (7.5%) HP:0001679
52 annular pancreas occasional (7.5%) HP:0001734
53 talipes occasional (7.5%) HP:0001883
54 pyloric stenosis occasional (7.5%) HP:0002021
55 cerebral cortical atrophy occasional (7.5%) HP:0002120
56 abnormality of neuronal migration occasional (7.5%) HP:0002269
57 spina bifida occasional (7.5%) HP:0002414
58 intestinal malrotation occasional (7.5%) HP:0002566
59 scoliosis occasional (7.5%) HP:0002650
60 abnormality of the hip bone occasional (7.5%) HP:0003272
61 hernia of the abdominal wall occasional (7.5%) HP:0004299
62 hypoplastic left heart occasional (7.5%) HP:0004383
63 ectopic anus occasional (7.5%) HP:0004397
64 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
65 urogenital fistula occasional (7.5%) HP:0100589
66 duodenal stenosis occasional (7.5%) HP:0100867
67 cryptorchidism HP:0000028
68 hypospadias HP:0000047
69 clitoral hypoplasia HP:0000060
70 labial hypoplasia HP:0000066
71 hydrocephalus HP:0000238
72 trigonocephaly HP:0000243
73 microcephaly HP:0000252
74 macrocephaly HP:0000256
75 epicanthus HP:0000286
76 hypertelorism HP:0000316
77 micrognathia HP:0000347
78 low-set ears HP:0000369
79 anteverted nares HP:0000463
80 short neck HP:0000470
81 microcornea HP:0000482
82 strabismus HP:0000486
83 telecanthus HP:0000506
84 ptosis HP:0000508
85 chorioretinal coloboma HP:0000567
86 microphthalmos 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 defect in the atrial septum 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 sporadic HP:0003745
110 clinodactyly of the 5th finger HP:0004209
111 depressed nasal bridge HP:0005280
112 flat occiput HP:0005469
113 infantile muscular hypotonia HP:0008947
114 u-shaped upper lip vermilion HP:0010806

Drugs & Therapeutics for Jacobsen Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Jacobsen Syndrome

Search NIH Clinical Center for Jacobsen Syndrome

Genetic Tests for Jacobsen Syndrome

About this section

Genetic tests related to Jacobsen Syndrome:

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

Anatomical Context for Jacobsen Syndrome

About this section

MalaCards organs/tissues related to Jacobsen Syndrome:

32
Heart, Testes, Eye, Bone marrow, Bone, Kidney, Pancreas

Animal Models for Jacobsen Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Jacobsen Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.6SHANK3, FLI1, CBL, ETS1, BSX
2MP:00053847.2ETS1, CBL, JAK3, FLI1, BSX

Publications for Jacobsen Syndrome

About this section

Articles related to Jacobsen Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. (25058499)
2014
2
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. (25288895)
2014
3
Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
2014
4
'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (23586500)
2013
5
Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. (24319861)
2013
6
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. (24192682)
2013
7
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
8
Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. (22139980)
2012
9
A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. (22302716)
2012
10
Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. (22876581)
2012
11
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. (22965935)
2012
12
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. (22887642)
2012
13
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
14
Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
2011
15
Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
2011
16
Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
2010
17
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
2010
18
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
2010
19
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
2009
20
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
2009
21
Jacobsen syndrome. (19267933)
2009
22
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
23
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
24
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
25
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). (18618998)
2008
26
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. (19000322)
2008
27
Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
2007
28
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
29
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
30
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
2006
31
Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
2006
32
Anesthetic implications of Jacobsen syndrome. (16409533)
2006
33
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. (16419136)
2006
34
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. (16543195)
2006
35
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
36
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
37
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. (15054845)
2004
38
Ocular findings in Jacobsen syndrome. (15088047)
2004
39
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. (10494099)
1999
40
Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. (9927483)
1999
41
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. (9508241)
1998
42
Nuchal thickening in Jacobsen syndrome. (9819862)
1998
43
Jacobsen syndrome: chromosome deletion at 11q23. (9821738)
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

About this section

Expression for genes affiliated with Jacobsen Syndrome

About this section
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

About this section

Compounds for genes affiliated with Jacobsen Syndrome

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate449.2NRGN, CBL, SHANK3
2nitric oxide44 24 1110.9ETS1, NRGN, JAK3
3phosphatidylinositol448.6JAK3, CBL, ETS1, NRGN
4threonine448.6ETS1, CBL, JAK3
5tyrosine448.5NRGN, JAK3, ETS1, CBL
6serine448.4ETS1, FLI1, JAK3, CBL

GO Terms for genes affiliated with Jacobsen Syndrome

About this section

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:0009819.0FLI1, ETS1
3sequence-specific DNA bindingGO:0435658.4FLI1, ETS1, BSX
4sequence-specific DNA binding transcription factor activityGO:0037008.0BSX, ETS1, CBL, FLI1

Products for genes affiliated with Jacobsen Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Jacobsen Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet