Jacobsen Syndrome (JBS)

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OMIM 57 147791 Orphanet 59 ORPHA2308 MESH via Orphanet 45 D054868 UMLS via Orphanet 74 C0795841

ICD10 via Orphanet 34 Q93.5 MedGen 42 C0795841 SNOMED-CT via HPO 69 204962002 82525005 396232000 204878001 204888000 43064006 230745008 28740008 271611007 194021007 22006008 15253005 32958008 95515009 249321001 708670007 11731003 95427009 26098002 128602000 22066006 246800008 246803005 11934000 128306009 193570009 247053007 39302008 204108000 61142002 231841004 246865000 314022009 416920000 95202004 387742006 76976005 127559009 62909004 391987005 249695006 281104002 43116000 43476002 81793007 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 221360009 397790002 224958001 5102002 23024003 30915001 203598005 385522000 55033002 57048009 7890003 88565003 36440009 432788009 199612005 22033007 282020008 367494004 49550006 49601007 253549006 30288003 253366007 405752007 70142008 60573004 7305005 40315008 203534009 53226007 32113001 302215000 415116008 398309008 90145001 14760008 225595004 367403001 278849000 418143002 52522001 51118003 67531005 253789002 29980002 48641006 111266001 64217002 157265008 249310005 237836003 62067003 5153001 128818009 278453007 249769001 268251006 34048007 406506008 7461003 13746004 191526005 58214004 more UMLS 73 C0795841 C1956093

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Jacobsen Syndrome, also known as chromosome 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 are NF-kappaB Signaling and CNTF Signaling. Affiliated tissues include testes, bone and heart, and related phenotypes are macrocephaly and hypertelorism

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.

Wikipedia : ⁷⁶ Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11... more...

Description from OMIM: 147791

Clinical features from OMIM:

147791

Search Clinical Trials , NIH Clinical Center for Jacobsen Syndrome

Search GEO for disease gene expression data for Jacobsen Syndrome.