Meckel syndrome type 1

A severe hereditary disorder with autosomal recessive inheritance. There is considerable variability (GENETIC PLEIOTROPY) in the range of anomalies observed in affected individuals caused by dysfunction of primary CILIA during early EMBRYOGENESIS. These include a combination of renal CYSTS, encephalocele, HEPATIC DUCT dysplasia and cysts, and POLYDACTYLY. Mutations in the MKS1 gene have been identified. OMIM: 249000

Also Known As:

Dysencephalia Splanchnocystica; Dysencephalia splachnocystica; Gruber syndrome; Meckel Gruber syndrome; Meckel Syndrome; Meckel Syndrome, Type 1; Meckel syndrome type1; Meckel-Gruber Syndrome; Meckel-Gruber Syndrome, Type 1

Respiratory Tract Diseases: 6015
- Ciliary Motility Disorders: 433
  - Meckel syndrome type 1: 69
Otorhinolaryngologic Diseases: 203
- Ciliary Motility Disorders: 433
  - Meckel syndrome type 1: 69
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Polycystic Kidney Diseases: 1968
      - Meckel syndrome type 1: 69
    - Ciliopathies: 604
      - Ciliary Motility Disorders: 433
        Meckel syndrome type 1: 69
  - Nervous System Malformations: 35
    - Neural Tube Defects: 4299
      - Encephalocele: 460
        Meckel syndrome type 1: 69
- Inborn Genetic Diseases: 11939
  - Ciliopathies: 604
    - Polycystic Kidney Diseases: 1968
      - Meckel syndrome type 1: 69
    - Ciliary Motility Disorders: 433
      - Meckel syndrome type 1: 69
  - Hereditary Eye Diseases: 18
    - Retinitis Pigmentosa: 3975
      - Meckel syndrome type 1: 69
Nervous System Diseases: 14178
- Nervous System Malformations: 35
  - Neural Tube Defects: 4299
    - Encephalocele: 460
      - Meckel syndrome type 1: 69
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Hernia: 7582
    - Encephalocele: 460
      - Meckel syndrome type 1: 69
Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Cystic Kidney Diseases: 461
      - Polycystic Kidney Diseases: 1968
        Meckel syndrome type 1: 69
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Cystic Kidney Diseases: 461
        Polycystic Kidney Diseases: 1968
        Meckel syndrome type 1: 69
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Cystic Kidney Diseases: 461
        Polycystic Kidney Diseases: 1968
        Meckel syndrome type 1: 69
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Retinal Dystrophies: 743
      - Retinitis Pigmentosa: 3975
        Meckel syndrome type 1: 69
- Hereditary Eye Diseases: 18
  - Retinitis Pigmentosa: 3975
    - Meckel syndrome type 1: 69

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