Disease: Peeling Skin Syndrome 4

Name Peeling Skin Syndrome 4

Synonyms ICHTHYOSIS BULLOSA OF SIEMENS-LIKE , ICHTHYOSIS, EXFOLIATIVE, AUTOSOMAL RECESSIVE; AREI

Classification genetic, skin

Phenotypes Autosomal recessive inheritance; Epidermal acanthosis; Ichthyosis; Lichenification; Nail dystrophy; Orthokeratosis; Palmoplantar keratoderma; Scaling skin

Associated Genes CSTA (Withdrawn symbols: STF1, STFA )

Mouse Orthologs Stfa2l1 , Stfa1 (Withdrawn symbols: Stf1 ) , Stfa3 (Withdrawn symbols: Stf3 ) , Csta3 (Withdrawn symbols: EG408196, Gm5416 ) , Csta2 (Withdrawn symbols: 2010005H15Rik ) , Cstdc5 (Withdrawn symbols: BC100530 ) , Csta1 (Withdrawn symbols: Csta ) , Cstdc4 (Withdrawn symbols: EG433016, Gm5483 ) , Stfa2 (Withdrawn symbols: Stf2 ) , Cstdc6 (Withdrawn symbols: 100038854, BC117090, Gm1975 )

Source OMIM:607936 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

No mouse models associated with OMIM:607936 by orthology to a human gene.

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