JBS
MCID: JCB001
MIFTS: 48

Jacobsen Syndrome (JBS) malady

Eye diseases, Fetal diseases, Blood diseases categories

Summaries for Jacobsen Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Jacobsen Syndrome, also known as partial 11q monosomy syndrome, is related to acute leukemia and paris-trousseau thrombocytopenia, and has symptoms including upper limb polydactyly/hexadactyly, ventricular septal defect/interventricular communication and imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula. 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, testes and bone.

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:63 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

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 22GTR, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

jacobsen syndrome 42 20 21 46 48
partial 11q monosomy syndrome 42 22
jacobsen distal 11q deletion syndrome 60
paris-trousseau thrombocytopenia 60
chromosome 11q deletion syndrome 42
11q terminal deletion disorder 21
jacobsen thrombocytopenia 21
gene deletion abnormality 60
11q23 deletion disorder 21
11q- deletion syndrome 21
telomeric deletion 11q 48
11q deletion disorder 21
11q deletion syndrome 21
partial deletion 11q 48
distal monosomy 11q 48
distal deletion 11q 48
chromosome deletion 60
monosomy 11qter 48
del(11)(q23.3) 48
del(11)(qter) 48
jbs 42


External Ids:

OMIM46 147791
MESH via Orphanet35 D054868
ICD10 via Orphanet26 Q93.5
SNOMED-CT via Orphanet57 4325000
UMLS via Orphanet61 C0795841

Related Diseases for Jacobsen Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Jacobsen Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 230)
idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia29.7ETS1, CBL
2paris-trousseau thrombocytopenia10.7
3johanson-blizzard syndrome10.4
4thrombocytopenia10.3
5infertility10.3
6chromosomal disease10.3
7common variable immunodeficiency10.3
8male infertility10.2
9aniridia10.1
10wolf-hirschhorn syndrome10.1
11hydronephrosis10.1
12choroideremia10.1
13williams syndrome10.1
14periventricular nodular heterotopia10.0
15platelet storage pool deficiency10.0
16beckwith-wiedemann syndrome10.0
17cleft palate10.0
18down syndrome10.0
19protein c deficiency10.0
20cri-du-chat syndrome10.0
21osteoporosis10.0
22bipolar disorder10.0
23hypothyroidism10.0
24sleep disorder10.0
25ventricular septal defect10.0
26x-linked ichthyosis10.0
27chronic granulomatous disease10.0
28retinitis pigmentosa10.0
29microphthalmia10.0
30velocardiofacial syndrome10.0
31prostate cancer10.0
32prostatitis10.0
33retinal disease10.0
34retinitis10.0
35gastrointestinal stromal tumor10.0JAK3
36angiosarcoma10.0FLI1
37williams-beuren syndrome10.0
38trichorhinophalangeal syndrome type ii10.0
391p36 deletion syndrome10.0
40smith magenis syndrome10.0
411q21.1 microdeletion10.0
429q22.3 microdeletion10.0
4315q24 microdeletion syndrome10.0
44kleefstra syndrome10.0
45mitochondrial dna deletion syndromes10.0
46phelan-mcdermid syndrome10.0
47y chromosome infertility10.0
48chromosome 10p deletion10.0
49chromosome 11p deletion10.0
50chromosome 11q deletion10.0

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



Diseases related to jacobsen syndrome

Clinical Features for Jacobsen Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

147791

Clinical synopsis from OMIM:

147791

Symptoms:

48 (show all 75)
  • upper limb polydactyly/hexadactyly
  • ventricular septal defect/interventricular communication
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • rib number anomalies
  • coloboma of the eyelid
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • small/hypoplastic/adherent/absent ear lobe
  • coloboma of iris
  • multicystic kidney/renal dysplasia
  • intrauterine growth retardation
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • psychosis/schizophrenia/maniac disorder
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • dilated cerebral ventricles without hydrocephaly
  • thrombocytopenia/thrombopenia
  • intestinal/gut/bowel malrotation
  • spina bifida
  • annular pancreas
  • duodenal atresia/stenosis/megaduodenum
  • long/prehensile big toe
  • thick columella
  • bone marrow failure/pancytopenia
  • trigonocephaly
  • hypoplastic left heart/ventricle
  • ectropion/entropion/eyelid eversion
  • syndactyly of toes
  • anus ectopia/anteposition/malposition
  • flat palm
  • absent/decreased/thin eyebrows
  • prematurity
  • gastric/pyloric stenosis
  • high forehead
  • eczema
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ptosis
  • constipation
  • high vaulted/narrow palate
  • cataract/lens opacification
  • inguinal/inguinoscrotal/crural hernia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • broad nose/nasal bridge
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • frontal bossing/prominent forehead
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • short neck
  • syndactyly of fingers/interdigital palm
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • scoliosis
  • short/small nose
  • abnormal vertebral size/shape
  • flat foot
  • short foot/brachydactyly of toes
  • clinodactyly of toes
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • insterstitial/subtelomeric microdeletion/deletion
  • hyperactivity/attention deficit
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • talipes-varus/metatarsal varus
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • death in infancy
  • strabismus/squint
  • anteverted nares/nostrils
  • philtrum flat/large/featureless/absent cupidon bows
  • broad/bifid big toe
  • short stature/dwarfism/nanism
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • long philtrum
  • micrognathia/retrognathia/micrognathism/retrognathism
  • epicanthic folds
  • webbed neck/pterygium colli

Drugs & Therapeutics for Jacobsen Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Jacobsen Syndrome

Drug clinical trials:

Search ClinicalTrials for Jacobsen Syndrome

Search NIH Clinical Center for Jacobsen Syndrome

Search CenterWatch for Jacobsen Syndrome

Genetic Tests for Jacobsen Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Jacobsen Syndrome:

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

Animal Models for Jacobsen Syndrome or affiliated genes

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Publications for Jacobsen Syndrome

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Genetic Variations for Jacobsen Syndrome

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Expression for genes affiliated with Jacobsen Syndrome

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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

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Sources:
37NCBI BioSystems Database, 51QIAGEN
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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, CBL, JAK3
48.9JAK3, CBL, ETS1

Compounds for genes affiliated with Jacobsen Syndrome

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44Novoseek
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Compounds related to Jacobsen Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphatidylinositol448.5ETS1, CBL, NRGN, JAK3

GO Terms for genes affiliated with Jacobsen Syndrome

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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Jacobsen Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet