Disease: Arthropathy, Progressive Pseudorheumatoid, Of Childhood

Name Arthropathy, Progressive Pseudorheumatoid, Of Childhood

Synonyms PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD , PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPD , SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; SEDT-PA

Classification bone, developmental, genetic

Phenotypes Abnormal foot morphology; Arthropathy; Autosomal recessive inheritance; Camptodactyly of finger; Coxa vara; Decreased cervical spine mobility; Difficulty walking; Enlarged epiphyses; Enlarged interphalangeal joints; Enlarged metacarpophalangeal joints; Enlargement of the proximal femoral epiphysis; Flattened epiphysis; Genu varum; Joint stiffness; Joint swelling; Kyphoscoliosis; Metaphyseal widening; Muscle weakness; Osteoarthritis; Osteoporosis; Platyspondyly; Sclerotic vertebral endplates; Waddling gait

Associated Genes CCN6 (Withdrawn symbols: WISP-3, WISP3 )

Mouse Orthologs Ccn6 (Withdrawn symbols: ENSMUSG00000062074, Gm735, Wisp3 )

Source OMIM:208230 (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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