Jacobsen Distal 11q Deletion Syndrome
A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are 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, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.
Also Known As:
11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q- Deletion Syndrome; 11q23 Deletion Disorder; Chromosome 11q Deletion Syndrome; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome; Paris-Trousseau Thrombocytopenia; Partial 11q Monosomy Syndrome; Thrombocytopenia, Paris-Trousseau Type; 11q- Deletion Syndromes; Deletion Disorder, 11q; Deletion Disorder, 11q23; Deletion Syndrome, 11q-; Paris Trousseau Syndrome; Paris Trousseau Thrombocytopenia; Paris-Trousseau Type Thrombocytopenia; Paris-Trousseau Type Thrombocytopenias; Thrombocytopenia, Jacobsen; Thrombocytopenia, Paris Trousseau Type; Thrombocytopenia, Paris-Trousseau; Type Thrombocytopenia, Paris-Trousseau; 11q Deletion Disorder; Jacobsen Syndrome
Networked: 24
relevant articles (0 outcomes,
0 trials/studies)
Disease Context: Research Results
Related Diseases
Experts
1. | Grossfeld, Paul:
3 articles
(01/2019 - 03/2009)
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2. | Mattina, Teresa:
2 articles
(01/2019 - 03/2009)
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3. | Choi, Su-Yeon:
2 articles
(01/2017 - 01/2015)
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4. | Chung, Woosuk:
2 articles
(01/2017 - 01/2015)
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5. | Cutforth, Tyler:
2 articles
(01/2017 - 01/2015)
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6. | Han, Kihoon:
2 articles
(01/2017 - 01/2015)
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7. | Kim, Eunjoon:
2 articles
(01/2017 - 01/2015)
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8. | Kim, Myeong-Heui:
2 articles
(01/2017 - 01/2015)
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9. | Lee, Dongsoo:
2 articles
(01/2017 - 01/2015)
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10. | Shen, Kang:
2 articles
(01/2017 - 01/2015)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Jacobsen Distal 11q Deletion Syndrome:
1. | Transcription Factors (Transcription Factor)IBA
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2. | Immunoglobulins (Immunoglobulin)IBA
01/01/2017
- " Copy number variants and point mutations of NEPH2 (also called KIRREL3) gene encoding an immunoglobulin (Ig) superfamily adhesion molecule have been linked to autism spectrum disorders, intellectual disability and neurocognitive delay associated with Jacobsen syndrome, but the physiological roles of Neph2 in the mammalian brain remain largely unknown. " 01/01/2015
- " Neph2, also known as Kirrel3, is an immunoglobulin superfamily adhesion molecule implicated in intellectual disability, neurocognitive delay associated with Jacobsen syndrome, and autism spectrum disorders. " 01/01/2015
- " Recently dysfunction of KIRREL3, a synaptic molecule of the immunoglobulin superfamily, has been implicated in several neurodevelopmental conditions including intellectual disability, autism spectrum disorder, and in the neurocognitive delay associated with Jacobsen syndrome. "
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3. | Folic Acid (Vitamin M)FDA LinkGeneric
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4. | Long Noncoding RNAIBA
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5. | Janus Kinase 3IBA
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6. | NeurograninIBA
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7. | Proto-Oncogene Protein c-ets-1IBA
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8. | A-Form DNA (A-DNA)IBA
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9. | VaccinesIBA
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10. | Growth Hormone (Somatotropin)IBA
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Therapies and Procedures