Table 3.
Clinical Manifestations of the Various Alport-Like Syndromes
| Syndrome and Inheritance | Mutated Gene/Locus | Macrothrombocytopenia | Inclusion Bodies | Nephropathy | Deafness | EyeAbnormalities | Impaired Liver Function | Hypercholesterolemia |
| Alport | ||||||||
| X-linked | COL4A5, COL4A6 | − | − | + | + | + | − | − |
| Autosomal recessive | COL4A3, COL4A4 | − | − | + | + | + | − | − |
| Autosomal dominant | COL4A3(?), COL4A4(?) | − | − | + | + | + | − | − |
| May-Hegglin | ||||||||
| Autosomal dominant | ? | + | +a | − | − | − | − | − |
| Epstein | ||||||||
| Autosomal dominant | ? | + | − | + | + | + | − | − |
| Fechtnerb | ||||||||
| Autosomal dominant | Chromosome 22q11-13 | + | +a | + | + | + | + | + |
| Sebastian | ||||||||
| Autosomal dominant | ? | + | +a | − | − | − | − | − |
a
The three families with Fechtner syndrome that have been described so far differ slightly from each other, as described in the text.
b
The ultrastructure of the inclusion bodies in Fechtner syndrome resemble those in Sebastian syndrome and are different from those seen in the May-Hegglin anomaly.