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Blepharophimosis syndrome type 1

Also Known As:

Blepharophimosis, ptosis, epicanthus inversus type 1; Blepharophimosis, ptosis, epicanthus inversus with ovarian failure

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Urogenital Diseases: 126
- Genital Diseases: 114
  - Female Genital Diseases: 393
    - Adnexal Diseases: 60
      - Ovarian Diseases: 665
        Premature Menopause: 320
        Blepharophimosis syndrome type 1: 1
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Female Genital Diseases: 393
      - Adnexal Diseases: 60
        Ovarian Diseases: 665
        Premature Menopause: 320
        Blepharophimosis syndrome type 1: 1
Reproductive and Urinary Physiological Phenomena
- Reproductive Physiological Phenomena
  - Climacteric
    - Menopause
      - Premature Menopause: 320
        Blepharophimosis syndrome type 1: 1
  - Sexual Development
    - Climacteric
      - Menopause
        Premature Menopause: 320
        Blepharophimosis syndrome type 1: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Blepharophimosis syndrome type 1: 1
  - Eye Abnormalities: 95
    - Blepharophimosis: 84
      - Blepharophimosis syndrome type 1: 1
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Blepharophimosis syndrome type 1: 1
Eye Diseases: 3522
- Eye Abnormalities: 95
  - Blepharophimosis: 84
    - Blepharophimosis syndrome type 1: 1
- Eyelid Diseases: 17
  - Blepharophimosis: 84
    - Blepharophimosis syndrome type 1: 1

Related Diseases

1.	Primary Ovarian Insufficiency

Experts

1.	Bae, Jeehyeon: 1 article (07/2004)
2.	Hsueh, Aaron J W: 1 article (07/2004)
3.	Klein, Cynthia: 1 article (07/2004)
4.	Pisarska, Margareta D: 1 article (07/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Blepharophimosis syndrome type 1:

1.	Forkhead Transcription Factors (Forkhead Box Proteins)IBA 07/01/2004 - "Premature ovarian failure in a subgroup of women with blepharophimosis-ptosis-epicanthus inversus type 1 syndrome has been associated with nonsense mutations in the gene encoding a Forkhead transcription factor, Forkhead L2 (FOXL2). "
2.	Nonsense Codon (Nonsense Mutation)IBA 07/01/2004 - "Premature ovarian failure in a subgroup of women with blepharophimosis-ptosis-epicanthus inversus type 1 syndrome has been associated with nonsense mutations in the gene encoding a Forkhead transcription factor, Forkhead L2 (FOXL2). "