Emanuel syndrome

Caused by a t(11;22)(q23;q11.2) translocation.

Also Known As:

Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events; Supernumary Der(22) Syndrome; Supernumary Der(22)T(11;22) Syndrome; Supernumary Derivative 22 Chromosome Syndrome; Supernumerary der(22) syndrome; Supernumerary der(22)t(11;22) syndrome

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Maxillofacial Abnormalities: 10
      - Jaw Abnormalities: 10
        Cleft Palate: 2757
        Emanuel syndrome: 5
- Jaw Diseases: 15
  - Jaw Abnormalities: 10
    - Cleft Palate: 2757
      - Emanuel syndrome: 5
Stomatognathic Diseases: 705
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Emanuel syndrome: 5
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Emanuel syndrome: 5
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Emanuel syndrome: 5
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Emanuel syndrome: 5
  - Neuromuscular Manifestations: 23
    - Muscle Hypotonia: 1437
      - Emanuel syndrome: 5
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Emanuel syndrome: 5
    - Neuromuscular Manifestations: 23
      - Muscle Hypotonia: 1437
        Emanuel syndrome: 5
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Emanuel syndrome: 5
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Emanuel syndrome: 5

Related Diseases

1.	Turner Syndrome (Turner's Syndrome)
2.	Trisomy (Trisomies)
3.	Myopia
4.	Monosomy
5.	Aneuploidy (Aneuploid)

Experts

1.	Chen, Min: 1 article (01/2020)
2.	Dong, Minyue: 1 article (01/2020)
3.	Jin, Fan: 1 article (01/2020)
4.	Lin, Jie: 1 article (01/2020)
5.	Luo, Yuqin: 1 article (01/2020)
6.	Qian, Yeqing: 1 article (01/2020)
7.	Sun, Yixi: 1 article (01/2020)
8.	Wang, Liya: 1 article (01/2020)
9.	Capasso, Jenina E: 1 article (01/2018)
10.	Levin, Alex V: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Emanuel syndrome:

1.	Anesthetics (Anesthetic Agents)IBA 01/01/2016 - "We experienced anesthetic management of a patient with Emanuel syndrome who underwent palatoplasty. " 01/01/2016 - "Anesthetic Management of a Patient With Emanuel Syndrome." 06/01/2015 - "A thorough examination of the heart, kidney, and spinal cord is important when planning the anesthetic management of patients with Emanuel syndrome. " 06/01/2015 - "Anesthetic management of pediatric patients with Emanuel syndrome."
2.	Glutamic Acid (Glutamate)FDA Link 01/01/2018 - "Two candidate genes were identified as possible etiologies for the ocular pathologies in our patient: a MFRP duplication on chromosome 11, which may play a role in high myopia and dysregulation of emmetropization, and a GRM8 deletion on chromosome 7, which may cause glutamate-induced excitotoxicity and therefore have a role in the development of JOAG, unrelated to the Emanuel syndrome genotype. "
3.	RNA (Ribonucleic Acid)IBA 01/01/2013 - "Using next generation transcriptomics sequencing technology RNA-seq, we profiled the transcriptomes of four human aneuploid induced pluripotent stem cell (iPSC) lines generated from monosomy × (Turner syndrome), trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome), and partial trisomy 11:22 (Emanuel syndrome) as well as two umbilical cord matrix iPSC lines as euploid controls to examine how phenotypic abnormalities develop with aberrant karyotype. "
4.	N-(4-isothiocyanatophenethyl)spiperoneIBA 01/01/2020 - "NIPS could effectively identify Emanuel syndrome, which may indicate risks of a parent being a balanced rearrangement carrier. " 01/01/2020 - "NIPS was performed to diagnose the Emanuel syndrome. "