JBS
MCID: JCB001
MIFTS: 52

Jacobsen Syndrome (JBS)

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

Aliases & Classifications for Jacobsen Syndrome

MalaCards integrated aliases for Jacobsen Syndrome:

Name: Jacobsen Syndrome 56 12 74 52 25 58 13 15 39
Jacobsen Distal 11q Deletion Syndrome 12 43 71
Chromosome 11q Deletion Syndrome 56 12 52
Partial 11q Monosomy Syndrome 56 12 52
11q Partial Monosomy Syndrome 29 6
Jbs 56 52
Paris-Trousseau Thrombocytopenia 71
11q Terminal Deletion Disorder 25
Jacobsen Thrombocytopenia 25
Chromosome 11q Deletion 52
11q23 Deletion Disorder 25
11q- Deletion Syndrome 25
Telomeric Deletion 11q 58
11q Deletion Disorder 25
11q Deletion Syndrome 25
Partial Monosomy 11q 52
Distal Deletion 11q 58
Distal Monosomy 11q 58
Monosomy 11qter 58
Del(11)(q23.3) 58
Del(11)(qter) 58
11q Deletion 52
11q Monosomy 52
Deletion 11q 52
Monosomy 11q 52

Characteristics:

Orphanet epidemiological data:

58
jacobsen syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome
75% of affected individuals are female
incidence of 1 in 100,000 births


HPO:

31
jacobsen syndrome:
Clinical modifier death in infancy
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Jacobsen Syndrome

Genetics Home Reference : 25 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, including the development of speech and motor skills (such as sitting, standing, and walking). Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention-deficit/hyperactivity disorder (ADHD). Jacobsen syndrome is also associated with an increased likelihood of autism spectrum disorders, which are characterized by impaired communication and socialization skills. Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cells that are necessary for blood clotting. Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood.

MalaCards based summary : Jacobsen Syndrome, also known as jacobsen distal 11q deletion syndrome, is related to johanson-blizzard syndrome and thrombocytopenia, paris-trousseau type, and has symptoms including muscle spasticity An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome), and among its related pathways/superpathways is IL4-mediated signaling events. The drugs Fludarabine and rituximab have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has material basis in deletion of terminal chromosome 11q.

NIH Rare Diseases : 52 Chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted ) copy of genetic material on the long arm (q) of chromosome 11 . The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 11q deletion include developmental delay , intellectual disability , behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited . In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation , where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 11q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 11. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders .

OMIM : 56 Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome with major clinical features of growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammertoes, and isoimmune thrombocytopenia (Fryns et al., 1986, Epstein, 1986). (147791)

Wikipedia : 74 Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11... more...

Related Diseases for Jacobsen Syndrome

Diseases related to Jacobsen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 johanson-blizzard syndrome 33.3 SNX19 NFRKB JAM3 ARHGAP32
2 thrombocytopenia, paris-trousseau type 11.7
3 hypoplastic left heart syndrome 11.6
4 thrombocytopenia 10.6
5 alacrima, achalasia, and mental retardation syndrome 10.4
6 bladder cancer 10.4
7 leukemia, chronic lymphocytic 10.4
8 neuroblastoma 10.4
9 pancytopenia 10.3
10 chromosome 3p duplication 10.3
11 hypertelorism 10.3
12 fragile site 11b 10.3
13 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.3
14 peptic ulcer disease 10.3
15 strabismus 10.2
16 mechanical strabismus 10.2
17 chromosomal triplication 10.2
18 hypotonia 10.2
19 partial deletion of the long arm of chromosome 11 10.2
20 pachygyria 10.2
21 autism spectrum disorder 10.2
22 brill-zinsser disease 10.2 CBL AFF2
23 omphalocele 10.2
24 coloboma of macula 10.1
25 papillomatosis, confluent and reticulated 10.1
26 telecanthus 10.1
27 cryptorchidism, unilateral or bilateral 10.1
28 immune deficiency disease 10.1
29 ptosis 10.1
30 inguinal hernia 10.1
31 agammaglobulinemia 10.1
32 otosclerosis 10.1
33 disease of mental health 10.1
34 cholecystitis 10.1
35 adenocarcinoma 10.1
36 anthrax disease 10.1
37 lung disease 10.1
38 cytokine deficiency 10.1
39 back pain 10.1
40 central cord syndrome 10.1
41 rapidly involuting congenital hemangioma 10.1
42 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.1 FRA11B CBL
43 autism 10.0
44 suppression amblyopia 10.0
45 amblyopia 10.0
46 leukodystrophy 10.0
47 hypothyroidism 10.0
48 ventricular septal defect 10.0
49 heart septal defect 10.0
50 growth hormone deficiency 10.0

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



Diseases related to Jacobsen Syndrome

Symptoms & Phenotypes for Jacobsen Syndrome

Human phenotypes related to Jacobsen Syndrome:

58 31 (show top 50) (show all 106)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
4 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
5 bone marrow hypocellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005528
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
9 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
10 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
11 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
12 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
13 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
14 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
15 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
16 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
17 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
18 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
19 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
20 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
21 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
22 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
23 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
24 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
25 aplasia/hypoplasia of the earlobes 58 31 frequent (33%) Frequent (79-30%) HP:0009906
26 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
27 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
28 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
29 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
30 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
31 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
32 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
33 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
34 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
35 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
36 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
37 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
38 toe clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001863
39 missing ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000921
40 long hallux 58 31 frequent (33%) Frequent (79-30%) HP:0001847
41 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
42 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
43 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
44 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
45 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
46 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
47 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
48 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
49 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0004383
50 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
short nose
upturned nasal tip

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
hydrocephalus
spasticity
holoprosencephaly
mental retardation
hypotonia (infancy)

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Hands:
brachydactyly
fifth finger clinodactyly

Genitourinary External Genitalia Male:
hypospadias

Abdomen Pancreas:
annular pancreas

Skeletal Limbs:
joint contractures

Head And Neck Mouth:
large, carp-shaped mouth

Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
ptosis
iris coloboma
more
Head And Neck Head:
macrocephaly
microcephaly
flat occiput
trigonocephaly

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Face:
micrognathia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
missing ribs

Hematology:
thrombocytopenia

Genitourinary External Genitalia Female:
labial hypoplasia
clitoral hypoplasia

Abdomen Gastrointestinal:
pyloric stenosis

Respiratory:
frequent respiratory infections

Skin Nails Hair Hair:
abnormal eyelashes
abnormal eyebrows

Laboratory Abnormalities:
partial deletion of long arm of chromosome 11 (11q23-qter)

Clinical features from OMIM:

147791

UMLS symptoms related to Jacobsen Syndrome:


muscle spasticity

MGI Mouse Phenotypes related to Jacobsen Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.23 BARX2 BSX CBL ETS1 FLI1 JAK3

Drugs & Therapeutics for Jacobsen Syndrome

Drugs for Jacobsen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
2
rituximab Approved Phase 3 174722-31-7 10201696
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4 Immunologic Factors Phase 3
5 Antirheumatic Agents Phase 3
6 Antineoplastic Agents, Immunological Phase 3
7
Lenalidomide Approved Phase 2 191732-72-6 216326
8
Metformin Approved Phase 2 657-24-9 14219 4091
9 Angiogenesis Inhibitors Phase 2
10 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Single-agent Rituximab as Maintenance Treatment Versus Observation After Combined Induction Immunochemotherapy With Fludarabine, Cyclophosphamide and Rituximab in Patients Older Than 65 Years With Previously Untreated Chronic Lymphocytic Leukemia: a Phase III Trial of FILO Completed NCT00645606 Phase 3
2 Lenalidomide Following Rituximab and Fludarabine in Untreated Chronic Lymphocytic Leukemia Completed NCT00860457 Phase 2 Rituximab;Fludarabine;Lenalidomide
3 A Phase II Pilot Study of Metformin Therapy in Patients With Relapsed Chronic Lymphocytic Leukemia and Untreated CLL Patients With Genomic Deletion 11q Suspended NCT01750567 Phase 2 Metformin

Search NIH Clinical Center for Jacobsen Syndrome

Cochrane evidence based reviews: jacobsen distal 11q deletion syndrome

Genetic Tests for Jacobsen Syndrome

Genetic tests related to Jacobsen Syndrome:

# Genetic test Affiliating Genes
1 11q Partial Monosomy Syndrome 29

Anatomical Context for Jacobsen Syndrome

MalaCards organs/tissues related to Jacobsen Syndrome:

40
Heart, Kidney, Eye, Testes, Skin, Bone Marrow, Bone

Publications for Jacobsen Syndrome

Articles related to Jacobsen Syndrome:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay. 56 61
20520618 2010
2
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. 56 61
20358622 2010
3
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. 61 56
19942620 2010
4
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. 56 61
19533782 2009
5
Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome). 61 56
18855024 2009
6
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). 61 56
18792974 2008
7
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). 61 56
18618998 2008
8
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). 61 56
17044870 2006
9
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. 61 56
16543195 2006
10
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). 56 61
16222663 2005
11
The 11q terminal deletion disorder: a prospective study of 110 cases. 56 61
15266616 2004
12
Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. 56 61
15266617 2004
13
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. 56 61
15054845 2004
14
Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization. 56 61
12116256 2002
15
Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. 61 56
11279643 2001
16
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. 61 56
10767345 2000
17
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. 61 56
10494099 1999
18
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. 56 61
9508241 1998
19
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. 56 61
8880580 1996
20
Clinical and molecular characterization of patients with distal 11q deletions. 56 61
7887422 1995
21
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. 61 56
7881408 1994
22
Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. 61 56
1551671 1992
23
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity. 56
16411193 2006
24
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. 56
14597985 2003
25
Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. 56
10981960 2000
26
Two craniosynostotic patients with 11q deletions, and review of 48 cases. 56
8588585 1995
27
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. 56
7603564 1995
28
Deletion 11q23.3 without familial predisposition. 56
3169750 1988
29
Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23. 56
3610150 1987
30
Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. 56
3791674 1986
31
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. 56
4134631 1973
32
White matter abnormality in Jacobsen syndrome assessed by serial MRI. 61
32507665 2020
33
Editors' note: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain. 61
32152240 2020
34
Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain. 61
32152241 2020
35
Author response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain. 61
32152242 2020
36
Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome: A case report and review of the literature. 61
31895838 2020
37
[Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability]. 61
31400138 2019
38
Scurvy Findings in a Child with Jacobsen Syndrome: A Case Report. 61
31584905 2019
39
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. 61
30888095 2019
40
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. 61
31160359 2019
41
Successful Management of a Patient With Jacobsen Syndrome and Hypoplastic Left Heart Syndrome. 61
31117916 2019
42
Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain. 61
30936237 2019
43
Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy. 61
30031150 2019
44
Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development. 61
30422383 2019
45
Neph2/Kirrel3 regulates sensory input, motor coordination, and home-cage activity in rodents. 61
30133126 2018
46
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region. 61
29988670 2018
47
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. 61
29392564 2018
48
11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report. 61
29307309 2018
49
FLI1 level during megakaryopoiesis affects thrombopoiesis and platelet biology. 61
28432223 2017
50
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations. 61
28211970 2017

Variations for Jacobsen Syndrome

ClinVar genetic disease variations for Jacobsen Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 53 genes, none of which curated to show dosage sensitivity GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)copy number loss Pathogenic 625594 11:125446101-134904063
2 ACAD8 , GLB1L3 , IGSF9B , JAM3 , LINC02743 , NCAPD3 , OPCML , SPATA19 , THYN1 , VPS26B GRCh37/hg19 11q25(chr11:133325079-134157243)copy number loss Pathogenic 625595 11:133325079-134157243
3 ETS1 NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs)indel Pathogenic 627517 rs1565372210 11:128350160-128350165 11:128480265-128480270
4 FLI1 NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)SNV Likely pathogenic 424635 rs1064797086 11:128680534-128680534 11:128810639-128810639
5 FLI1 deletion Likely pathogenic 627497 11:128556380-128681341

Expression for Jacobsen Syndrome

Search GEO for disease gene expression data for Jacobsen Syndrome.

Pathways for Jacobsen Syndrome

Pathways related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 JAK3 ETS1 CBL

GO Terms for Jacobsen Syndrome

Cellular components related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.26 NRGN KIRREL3 HEPACAM CBL
2 transcription factor complex GO:0005667 8.92 NKX2-5 ETS1 BSX BARX2

Biological processes related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of long-term synaptic potentiation GO:1900273 8.62 SHANK3 NRGN

Molecular functions related to Jacobsen Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 NKX2-5 FLI1 ETS1 BSX BARX2

Sources for Jacobsen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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