Ichthyosis and erythrokeratoderma
Gene: MPDU1
MPDU1 (mannose-P-dolichol utilization defect 1)
EnsemblGeneIds (GRCh38): ENSG00000129255
EnsemblGeneIds (GRCh37): ENSG00000129255
OMIM: 604041, Gene2Phenotype
MPDU1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000129255
EnsemblGeneIds (GRCh37): ENSG00000129255
OMIM: 604041, Gene2Phenotype
MPDU1 is in 10 panels
1 review
Veronica Kinsler (UCL)
Sources: LiteratureCreated: 10 Mar 2026, 9:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Ichthyosis
- OMIM
- 604041
- Clinvar variants
- Variants in MPDU1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
10 Mar 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Veronica Kinsler (UCL)gene: MPDU1 was added gene: MPDU1 was added to Ichthyosis and erythrokeratoderma. Sources: Literature Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDU1 were set to 11733556 Phenotypes for gene: MPDU1 were set to Ichthyosis Penetrance for gene: MPDU1 were set to unknown Review for gene: MPDU1 was set to GREEN