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Details of COL4A6 gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Note=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS). |
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Phenotypes
Abdominal symptom, Abnormality of body weight, Abnormality of lens shape, Abnormality of metabolism/homeostasis, Abnormality of renal physiology, Abnormality of the abdomen, Abnormality of the anterior segment of the eye, Abnormality of the ear, Abnormality of the eye, Abnormality of the genitourinary system, Abnormality of the inner ear, Abnormality of the kidney, Abnormality of the lens, Abnormality of the lung, Abnormality of the renal tubule, Abnormality of the respiratory system, Abnormality of the tracheobronchial system, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, All, Cataract, Decreased body weight, Diffuse leiomyomatosis, Dyspnea, Failure to thrive, Functional abnormality of the inner ear, Functional respiratory abnormality, Growth abnormality, Hearing abnormality, Hearing impairment, Hematuria, High-frequency sensorineural hearing impairment, Lenticonus, Nausea and vomiting, Neoplasm, Neoplasm by anatomical site, Phenotypic abnormality, Proteinuria, Respiratory insufficiency, Sensorineural hearing impairment, Tracheobronchial leiomyomatosis, Vomiting.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Col4a6 | Cg25C | --- | Sp-3Apcol |
