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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 22-05-2018 |
Symbol | EDS4A |
Location | 2q32.2 |
Name | Ehlers-Danlos syndrome, type IV |
Other name(s) |
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Corresponding gene | COL3A1 |
Other symbol(s) | EDSIV, EDSVASC |
Main clinical features |
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Genetic determination | autosomal dominant |
autosomal recessive | |
Function/system disorder | connective tissue |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
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| more than 200 mutations identified, approximately two thirds are single-nucleotide substitutions that result in substitution of glycine residues in the triple helical domain, most of the rest are splice site mutations
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Remark(s) |
Genotype/Phenotype correlations |
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