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COL4A1-related disorder

MedGen UID:
1050849
Concept ID:
CN376119
Disease or Syndrome
Synonyms: COL4A1-related condition; COL4A1-related disorders
 
Monarch Initiative: MONDO:0800461

Definition

The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). [from MONDO]

Recent clinical studies

Etiology

Kukulka NA, Zarei S, Glass J, Bouska C, Schroder J, Sen K
Am J Med Genet A 2024 Nov;194(11):e63804. Epub 2024 Jun 28 doi: 10.1002/ajmg.a.63804. PMID: 38942733

Diagnosis

Kukulka NA, Zarei S, Glass J, Bouska C, Schroder J, Sen K
Am J Med Genet A 2024 Nov;194(11):e63804. Epub 2024 Jun 28 doi: 10.1002/ajmg.a.63804. PMID: 38942733
Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A
J Neurol Sci 2015 May 15;352(1-2):99-104. Epub 2015 Apr 7 doi: 10.1016/j.jns.2015.03.042. PMID: 25873210

Prognosis

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A
J Neurol Sci 2015 May 15;352(1-2):99-104. Epub 2015 Apr 7 doi: 10.1016/j.jns.2015.03.042. PMID: 25873210

Clinical prediction guides

Giorgio E, Vaula G, Bosco G, Giacone S, Mancini C, Calcia A, Cavalieri S, Di Gregorio E, Rigault De Longrais R, Leombruni S, Pinessi L, Cerrato P, Brusco A, Brussino A
J Neurol Sci 2015 May 15;352(1-2):99-104. Epub 2015 Apr 7 doi: 10.1016/j.jns.2015.03.042. PMID: 25873210

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