Disease: Kenny-Caffey Syndrome, Type 1

Name Kenny-Caffey Syndrome, Type 1

Synonyms KCS , KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE

Classification bone, developmental, endocrine, genetic

Phenotypes Anemia; Autosomal recessive inheritance; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Congenital hypoparathyroidism; Decreased skull ossification; Delayed closure of the anterior fontanelle; Delayed skeletal maturation; Hypertelorism; Hypocalcemia; Hypomagnesemia; Intrauterine growth retardation; Long clavicles; Proportionate short stature; Recurrent bacterial infections; Seizures; Short foot; Short palm; Slender long bone; Small hand; Tetany; Thin clavicles; Thin ribs

Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 )

Mouse Orthologs Tbce (Withdrawn symbols: 2610206D02Rik, C530005D02Rik, pmn )

Source OMIM:244460 (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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