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Meckel syndrome type 3

Also Known As:

Meckel Syndrome, Type 3; Meckel-Gruber Syndrome, Type 3

Networked: 4 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Respiratory Tract Diseases: 6015
- Ciliary Motility Disorders: 433
  - Meckel syndrome type 3: 4
Otorhinolaryngologic Diseases: 203
- Ciliary Motility Disorders: 433
  - Meckel syndrome type 3: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Polycystic Kidney Diseases: 1968
      - Meckel syndrome type 3: 4
    - Ciliopathies: 604
      - Ciliary Motility Disorders: 433
        Meckel syndrome type 3: 4
  - Nervous System Malformations: 35
    - Neural Tube Defects: 4299
      - Encephalocele: 460
        Meckel syndrome type 3: 4
- Inborn Genetic Diseases: 11939
  - Ciliopathies: 604
    - Polycystic Kidney Diseases: 1968
      - Meckel syndrome type 3: 4
    - Ciliary Motility Disorders: 433
      - Meckel syndrome type 3: 4
Nervous System Diseases: 14178
- Nervous System Malformations: 35
  - Neural Tube Defects: 4299
    - Encephalocele: 460
      - Meckel syndrome type 3: 4
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Hernia: 7582
    - Encephalocele: 460
      - Meckel syndrome type 3: 4
Urogenital Diseases: 126

Related Diseases

1.	COACH syndrome
2.	Hydrocephalus (Hydrocephaly)

Experts

1.	Harris, Peter C: 1 article (02/2021)
2.	Lin, Xueying: 1 article (02/2021)
3.	Qiu, Qi: 1 article (02/2021)
4.	Xu, Xiaolei: 1 article (02/2021)
5.	Zhu, Ping: 1 article (02/2021)
6.	Blazer-Yost, Bonnie L: 1 article (01/2019)
7.	Fulkerson, Daniel: 1 article (01/2019)
8.	Jiang, Lei: 1 article (01/2019)
9.	McCarthy, Brian: 1 article (01/2019)
10.	Persohn, Scott: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Meckel syndrome type 3:

1.	Proteins (Proteins, Gene)FDA Link 01/01/2017 - "Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber syndrome, type 3) were reported to cause COACH syndrome, this causality has not verified by functional studies. " 01/01/2019 - "Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. "
2.	Retinaldehyde (Retinal)IBA 02/01/2012 - "In this study, the retinal morphology and ciliary function in a mouse model for Meckel Syndrome Type 3 (MKS3) throughout the course of photoreceptor development was examined. "
3.	Transcription Activator-Like Effector NucleasesIBA 04/01/2021 - "Transcription activator-like effector nucleases (TALEN) technology was used to generate mutant for tmem67, the homolog of the mammalian causative gene for Meckel syndrome type 3 (MKS3). "