ATR-X syndrome

A hereditary X-linked syndrome that occurs almost exclusively in males and affects multiple organ systems. In addition to intellectual disability and mild alpha-thalassemia, affected individuals may have distinct FACIES, ear, nose, and mouth abnormalities, MICROCEPHALY; ANEMIA; GASTROESOPHAGEAL REFLUX; CONSTIPATION and UROGENITAL ABNORMALITIES. Mutations and duplications in the ATRX gene have been identified. OMIM: 301040

Also Known As:

ATR non deletion type; ATR, Nondeletion Type; ATRX Syndrome; Alpha Thalassemia X-Linked Intellectual Disability Syndrome; Alpha Thalassemia X-Linked Mental Retardation Syndrome; Alpha Thalassemia-Mental Retardation, X-Linked; Alpha thalassemia mental retardation syndrome, non deletion type, X-linked; Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type; Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked; Alpha-thalassemia X-linked mental retardation syndrome; X-Linked Alpha-Thalassemia Mental Retardation Syndrome; X-linked alpha thalassemia mental retardation syndrome; XLMR-Hypotonic Face Syndrome

Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Anemia: 39278
    - Hemolytic Anemia: 6775
      - Congenital Hemolytic Anemia: 292
        Thalassemia: 6287
        alpha-Thalassemia: 1159
        ATR-X syndrome: 79
  - Hemoglobinopathies: 2039
    - Thalassemia: 6287
      - alpha-Thalassemia: 1159
        ATR-X syndrome: 79
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hemoglobinopathies: 2039
    - Thalassemia: 6287
      - alpha-Thalassemia: 1159
        ATR-X syndrome: 79
  - Congenital Hemolytic Anemia: 292
    - Thalassemia: 6287
      - alpha-Thalassemia: 1159
        ATR-X syndrome: 79
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - ATR-X syndrome: 79
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - ATR-X syndrome: 79
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        ATR-X syndrome: 79

Ángela Bernabéu-Sanz Selected Research

Ángela Bernabéu-Sanz Research Topics

Disease

Drug/Important Bio-Agent (IBA)