Autosomal recessive congenital ichthyosis 2
| Disorder | |
|---|---|
| OMIM #: | #242100 (Click to access OMIM database) |
| Disorder: | Autosomal recessive congenital ichthyosis 2 |
| Also known as: | ARCI2 |
| Clinical | |
| Phenotype: | Generalized scaling with mild to moderate erythema; born as collodion babies; nonbullous ichthyosiform erythroderma |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | ALOX12B |
| Base Change: | G>A, at nucleotide 1579 |
| Amino Acid Change: | val 527 --> met |
| Last updated: | 2024-09-20 |
| References |
|---|
| Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. (2007) Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol Apr;127(4):829-34. PubMed ID: 17139268 |
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