Zunich neuroectodermal syndrome

Also Known As:

CHIME syndrome

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Eye Abnormalities: 95
  - Coloboma: 478
    - Zunich neuroectodermal syndrome: 2
- Hereditary Eye Diseases: 18
  - Coloboma: 478
    - Zunich neuroectodermal syndrome: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Conductive Hearing Loss: 418
        Zunich neuroectodermal syndrome: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Zunich neuroectodermal syndrome: 2
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Conductive Hearing Loss: 418
        Zunich neuroectodermal syndrome: 2
- Neurocutaneous Syndromes: 262
  - Zunich neuroectodermal syndrome: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Zunich neuroectodermal syndrome: 2
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Conductive Hearing Loss: 418
        Zunich neuroectodermal syndrome: 2
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Zunich neuroectodermal syndrome: 2
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Zunich neuroectodermal syndrome: 2
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Zunich neuroectodermal syndrome: 2
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Zunich neuroectodermal syndrome: 2

Experts

1.	Bertola, Débora R: 1 article (01/2018)
2.	Ceroni, José Rm: 1 article (01/2018)
3.	Honjo, Rachel S: 1 article (01/2018)
4.	Kim, Chong A: 1 article (01/2018)
5.	Passos-Bueno, Maria R: 1 article (01/2018)
6.	Yamamoto, Guilherme L: 1 article (01/2018)
7.	Bhide, Shruti: 1 article (04/2012)
8.	Cantagrel, Vincent: 1 article (04/2012)
9.	Eroshkin, Alexey M: 1 article (04/2012)
10.	Freeze, Hudson H: 1 article (04/2012)

Drugs and Biologics

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

1.	5' Untranslated Regions (5' UTR)IBA 01/01/2018 - "We report a CHIME syndrome patient who harbors a missense mutation c.500T > C (p.Leu167Pro) and a large deletion involving the 5' untranslated region and part of exon 1 of PIGL. "
2.	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 04/06/2012 - "Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome."