JBS
MCID: JCB001
MIFTS: 48

Jacobsen Syndrome (JBS)

Categories: Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Jacobsen Syndrome

MalaCards integrated aliases for Jacobsen Syndrome:

Name: Jacobsen Syndrome 57 11 19 42 58 75 12 14 38
Jacobsen Distal 11q Deletion Syndrome 11 43 71
Chromosome 11q Deletion Syndrome 57 11 19
Partial 11q Monosomy Syndrome 57 11 19
11q Partial Monosomy Syndrome 28 5
Jbs 57 19
Paris-Trousseau Thrombocytopenia 71
11q Terminal Deletion Disorder 42
11q Terminal Deletion Syndrome 58
Jacobsen Thrombocytopenia 42
Chromosome 11q Deletion 19
11q23 Deletion Disorder 42
11q- Deletion Syndrome 42
Telomeric Deletion 11q 58
11q Deletion Disorder 42
11q Deletion Syndrome 42
Partial Monosomy 11q 19
Distal Deletion 11q 58
Distal Monosomy 11q 58
Monosomy 11qter 58
Del(11)(q23.3) 58
Del(11)(qter) 58
11q Deletion 19
11q Monosomy 19
Deletion 11q 19
Monosomy 11q 19

Characteristics:


Inheritance:

Isolated cases 57

Prevelance:

1-9/100000 (United States) 58

Age Of Onset:

Antenatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
contiguous gene deletion syndrome
75% of affected individuals are female
incidence of 1 in 100,000 births


Classifications:

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


Summaries for Jacobsen Syndrome

MedlinePlus Genetics: 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, 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 hypoplastic left heart syndrome, and has symptoms including muscle spasticity An important gene associated with Jacobsen Syndrome is JBS (Jacobsen Syndrome). The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are intellectual disability and global developmental delay

GARD: 19 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.

OMIM®: 57 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) (Updated 08-Dec-2022)

Orphanet: 58 A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.

Disease Ontology: 11 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.

Wikipedia: 75 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 196)
# Related Disease Score Top Affiliating Genes
1 johanson-blizzard syndrome 11.6
2 hypoplastic left heart syndrome 11.1
3 thrombocytopenia 10.4
4 neuroblastoma 10.4
5 leukemia, chronic lymphocytic 10.3
6 c syndrome 10.3
7 aplastic anemia 10.3
8 pancytopenia 10.3
9 blood platelet disease 10.3
10 hypertelorism 10.3
11 fragile site 11b 10.3
12 hypotonia 10.3
13 chromosome 3p duplication 10.3
14 cardiovascular system disease 10.2
15 lissencephaly 10.2
16 strabismus 10.2
17 thrombocytopenia, paris-trousseau type 10.2
18 hypoplastic left heart syndrome 1 10.2
19 immune deficiency disease 10.2
20 ventricular septal defect 10.2
21 partial deletion of the long arm of chromosome 11 10.2
22 brill-zinsser disease 10.2 CBL AFF2
23 agammaglobulinemia, x-linked 10.2
24 autism spectrum disorder 10.2
25 combined immunodeficiency 10.2
26 heart septal defect 10.2
27 agammaglobulinemia 10.2
28 viral infectious disease 10.2
29 leukemia 10.2
30 coloboma of macula 10.1
31 papillomatosis, confluent and reticulated 10.1
32 telecanthus 10.1
33 down syndrome 10.1
34 cryptorchidism, unilateral or bilateral 10.1
35 ptosis 10.1
36 inguinal hernia 10.1
37 omphalocele 10.1
38 chromosome 3q duplication 10.1
39 leukemia, chronic lymphocytic 2 10.1
40 hypoalphalipoproteinemia, primary, 2 10.1
41 myh-9 related disease 10.1 NBEAL2 GP9
42 mature t-cell and nk-cell lymphoma 10.1
43 nasal type extranodal nk/t-cell lymphoma 10.1
44 common variable immunodeficiency 10.1
45 hematologic cancer 10.1
46 autism 10.0
47 conotruncal heart malformations 10.0
48 sensorineural hearing loss 10.0
49 amblyopia 10.0
50 leukodystrophy 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 30 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 feeding difficulties in infancy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008872
4 thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001873
5 bone marrow hypocellularity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005528
6 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
7 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
8 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
9 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
10 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
11 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
12 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
13 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
14 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
15 smooth philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000319
16 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
17 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
18 broad hallux phalanx 58 30 Frequent (33%) Frequent (79-30%)
HP:0010059
19 abnormal form of the vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003312
20 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
21 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
22 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
23 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
24 short toe 58 30 Frequent (33%) Frequent (79-30%)
HP:0001831
25 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
26 aplasia/hypoplasia of the earlobes 58 30 Frequent (33%) Frequent (79-30%)
HP:0009906
27 facial asymmetry 58 30 Frequent (33%) Frequent (79-30%)
HP:0000324
28 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
29 long philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000343
30 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
31 ventricular septal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001629
32 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348
33 finger syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0006101
34 aplasia/hypoplasia of the eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0100840
35 microcornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000482
36 premature birth 58 30 Frequent (33%) Frequent (79-30%)
HP:0001622
37 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001770
38 toe clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001863
39 missing ribs 58 30 Frequent (33%) Frequent (79-30%)
HP:0000921
40 long hallux 58 30 Frequent (33%) Frequent (79-30%)
HP:0001847
41 broad columella 58 30 Frequent (33%) Frequent (79-30%)
HP:0010761
42 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
43 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
44 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
45 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
46 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
47 wide nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000431
48 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
49 webbed neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000465
50 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001680

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
microcephaly
flat occiput
trigonocephaly

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Neck:
short neck

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

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

Head And Neck Eyes:
ptosis
hypertelorism
optic atrophy
strabismus
iris coloboma
more
Head And Neck Nose:
depressed nasal bridge
short nose
upturned nasal tip

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 (Updated 08-Dec-2022)

UMLS symptoms related to Jacobsen Syndrome:


muscle spasticity

Drugs & Therapeutics for Jacobsen Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2 1115-70-4, 657-24-9 4091
2 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Pilot Study of Metformin Therapy in Patients With Relapsed Chronic Lymphocytic Leukemia and Untreated CLL Patients With Genomic Deletion 11q Recruiting NCT01750567 Phase 2 Metformin
2 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316

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 28

Anatomical Context for Jacobsen Syndrome

Organs/tissues related to Jacobsen Syndrome:

MalaCards : Eye, Heart, Kidney, Skin, Bone Marrow, Pancreas, Bone

Publications for Jacobsen Syndrome

Articles related to Jacobsen Syndrome:

(show top 50) (show all 407)
# Title Authors PMID Year
1
Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay. 62 57
20520618 2010
2
Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. 62 57
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. 62 57
19942620 2010
4
Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. 62 57
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). 62 57
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). 62 57
18792974 2008
7
Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). 62 57
18618998 2008
8
Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). 62 57
17044870 2006
9
The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. 62 57
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). 62 57
16222663 2005
11
Endocrine abnormalities in patients with Jacobsen (11q-) syndrome. 62 57
15266617 2004
12
The 11q terminal deletion disorder: a prospective study of 110 cases. 62 57
15266616 2004
13
Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. 62 57
15054845 2004
14
Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization. 62 57
12116256 2002
15
Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome. 62 57
11279643 2001
16
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. 62 57
10767345 2000
17
Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. 62 57
10494099 1999
18
Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. 62 57
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. 62 57
8880580 1996
20
Clinical and molecular characterization of patients with distal 11q deletions. 62 57
7887422 1995
21
Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. 62 57
7881408 1994
22
Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. 62 57
1551671 1992
23
Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1. 62 57
3791674 1986
24
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
25
Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity. 57
16411193 2006
26
Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. 57
14597985 2003
27
Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia. 57
10981960 2000
28
Two craniosynostotic patients with 11q deletions, and review of 48 cases. 57
8588585 1995
29
Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. 57
7603564 1995
30
Deletion 11q23.3 without familial predisposition. 57
3169750 1988
31
Chromosome deletion at 11q23 in an abnormal child from a family with inherited fragility at 11q23. 57
3610150 1987
32
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. 57
4134631 1973
33
Patterns of use of biological and genetic markers for chronic lymphocytic leukemia and acute myeloid leukemia in Puerto Rico. 62
36433636 2022
34
Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects. 62
36333145 2022
35
[Mutational features of immunoglobulin heavy chain variable region gene in patients with chronic lymphocytic leukemia]. 62
36323543 2022
36
Bioinformatics analysis of miRNAs in the neuroblastoma 11q-deleted region reveals a role of miR-548l in both 11q-deleted and MYCN amplified tumour cells. 62
36396668 2022
37
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia. 62
36315919 2022
38
Immunodeficiency and Lymphoma in Jacobsen Syndrome. 62
35029149 2022
39
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes. 62
35763218 2022
40
Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE. 62
35133619 2022
41
Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction. 62
35894043 2022
42
Utility of thromboelastogram in cardiac surgery in Jacobsen syndrome associated with platelet dysfunction: a case report. 62
35989376 2022
43
ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest. 62
35899771 2022
44
The prognostic value of 18F-FDG PET/CT intra-tumoural metabolic heterogeneity in pretreatment neuroblastoma patients. 62
35791003 2022
45
ETS1 and HLHS: Implications for the Role of the Endocardium. 62
35877581 2022
46
Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup. 62
35859155 2022
47
Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma. 62
35768791 2022
48
Targeting EP2 receptor with multifaceted mechanisms for high-risk neuroblastoma. 62
35732130 2022
49
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25). 62
35707598 2022
50
Infantile Stage M Neuroblastoma With 11q Deletion, Mimicking Stage MS. 62
35001057 2022

Variations for Jacobsen Syndrome

ClinVar genetic disease variations for Jacobsen Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 53 genes GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) CN LOSS Pathogenic
625594 GRCh37: 11:125446101-134904063
GRCh38:
2 overlap with 10 genes GRCh37/hg19 11q25(chr11:133325079-134157243) CN LOSS Pathogenic
625595 GRCh37: 11:133325079-134157243
GRCh38:
3 ETS1 NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs) INDEL Pathogenic
627517 rs1565372210 GRCh37: 11:128350160-128350165
GRCh38: 11:128480265-128480270
4 FLI1 DEL Likely Pathogenic
627497 GRCh37: 11:128556380-128681341
GRCh38:
5 FLI1 NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) SNV Likely Pathogenic
424635 rs1064797086 GRCh37: 11:128680534-128680534
GRCh38: 11:128810639-128810639

Expression for Jacobsen Syndrome

Search GEO for disease gene expression data for Jacobsen Syndrome.

Pathways for Jacobsen Syndrome

GO Terms for Jacobsen Syndrome

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 9.1 NKX2-5 FLI1 ETS1 BSX BARX2

Sources for Jacobsen Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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