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Results 1 - 10 of 10 for Rieger syndrome
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  1. Axenfeld-Rieger syndrome 
    Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  2. FOXC1 gene 
    ... FOXC1 gene have been found to cause Axenfeld-Rieger syndrome type 3, a condition that primarily affects the ... leading to the eye abnormalities characteristic of Axenfeld-Rieger syndrome. In some cases, changes involving the FOXC1 protein ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  3. PITX2 gene 
    ... PITX2 gene have been found to cause Axenfeld-Rieger syndrome type 1, a condition that affects the development ... the eye are the predominant features of Axenfeld-Rieger syndrome. However, changes in the amount of PITX2 protein ...
    https://medlineplus.gov/genetics/gene/pitx2 - Genetics
  4. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 
    ... Rieger anomaly and short stature Short stature-hyperextensibility-Rieger anomaly-teething delay SHORT syndrome Genetic Testing Registry: SHORT syndrome SHORT syndrome National ...
    https://medlineplus.gov/...ression-rieger-anomaly-and-teething-delay - Genetics
  5. PIK3R1 gene 
    ... known as short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay (often called SHORT syndrome). This condition is characterized by signs and symptoms ...
    https://medlineplus.gov/genetics/gene/pik3r1 - Genetics
  6. SALL1 gene 
    ... 2012 Feb 3. Citation on PubMed Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/ ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  7. Stormorken syndrome 
    ... syndrome National Organization for Rare Disorders (NORD) STORMORKEN SYNDROME; STRMK PubMed Kilch T, Alansary D, Peglow M, Dorr K, Rychkov G, Rieger H, Peinelt C, Niemeyer BA. Mutations of the ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  8. Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome 
    ... vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various ...
    https://medlineplus.gov/...athy-aneurysms-and-muscle-cramps-syndrome - Genetics
  9. COL4A1-related brain small-vessel disease 
    ... vessel disease have an eye abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual tearing of the ... back of the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision. Arterial ...
    https://medlineplus.gov/...col4a1-related-brain-small-vessel-disease - Genetics
  10. STIM1 gene 
    ... Alansary D, Peglow M, Dorr K, Rychkov G, Rieger H, Peinelt C, Niemeyer BA. Mutations of the ... Frengen E. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat. 2014 May;35(5):556-64. ...
    https://medlineplus.gov/genetics/gene/stim1 - Genetics