Disease: Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Name Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Synonyms CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA , CORTICAL HYPEROSTOSIS WITH HYPERPHOSPHATEMIA , HYPEROSTOSIS WITH HYPERPHOSPHATEMIA , HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS , LIPOCALCINOGRANULOMATOSIS , MORBUS TEUTSCHLAENDER , TEUTSCHLAENDER DISEASE, FAMILIAL , TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC , TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC; PHPTC

Classification bone, developmental, endocrine, genetic, metabolism, neoplastic, skin

Phenotypes Abnormality of the skin; Angioid streaks of the fundus; Autosomal recessive inheritance; Calcinosis; Conjunctival whitish salt-like deposits; Decreased renal tubular phosphate excretion; Hyperostosis; Hyperphosphatemia; Hypoplasia of dental enamel; Increased renal tubular phosphate reabsorption; Juvenile onset; Nephrocalcinosis; Pulp stones; Subperiosteal bone formation; Taurodontia; Vascular calcification

Associated Genes GALNT3 (Withdrawn symbols: GalNAc-T3, HFTC, HHS )

Mouse Orthologs Galnt3

Source OMIM:211900 (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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