eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ichthyosis |
| Comorbidity | C0020678|hypotrichosis |
| Sentences | 3 |
| PubMedID- 21245842 | Cap3/matriptase has been found to be mutated in human autosomal recessive ichthyosis with hypotrichosis and ichthyosis in mice resulting from loss of function of hai-1, a cap3/matriptase inhibitor944, can be rescued with low cap3/matriptase activity9. |
| PubMedID- 22350849 | Impaired matriptase proteolytic activity has been linked to human autosomal recessive icthyosis with hypotrichosis (arih), whereas aberrant matriptase activity has been implicated in netherton's syndrome. |
| PubMedID- 23900022 | Genetic defects in matriptase are linked to two congenital ichthyoses: autosomal recessive ichthyosis with hypotrichosis (arih, omim 610765) and ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis (ifah, omim 602400). |
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