Disease: Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Name Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Synonyms DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS , DESICCYTOSIS, HEREDITARY , PSEUDOHYPERKALEMIA EDINBURGH , PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK; PSHK1 , XEROCYTOSIS, HEREDITARY

Classification genetic, haematological

Phenotypes Autosomal dominant inheritance; Cholelithiasis; Conjunctival icterus; Exercise-induced hemolysis; Hemoglobinuria; Hepatitis; Hepatomegaly; Increased mean corpuscular hemoglobin concentration; Increased red cell hemolysis by shear stress; Increased serum ferritin; Jaundice; Pallor; Reticulocytosis; Splenomegaly

Associated Genes PIEZO1 (Withdrawn symbols: FAM38A, KIAA0233 )

Mouse Orthologs Piezo1 (Withdrawn symbols: BC039210, Fam38a )

Source OMIM:194380 (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

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