Disease: Schwartz-Jampel Syndrome, Type 1

Name Schwartz-Jampel Syndrome, Type 1

Synonyms CHONDRODYSTROPHIC MYOTONIA , MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES , SCHWARTZ-JAMPEL SYNDROME; SJS , SCHWARTZ-JAMPEL-ABERFELD SYNDROME , SJA SYNDROME

Classification bone, developmental, eye, genetic, neurological

Phenotypes Abnormality of femoral epiphysis; Anterior bowing of long bones; Autosomal recessive inheritance; Blepharophimosis; Cataract; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Decreased testicular size; Delayed skeletal maturation; Flat face; Flexion contracture of toe; Full cheeks; Generalized hirsutism; High pitched voice; Hip contracture; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes in irregular rows; Low-set ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Metaphyseal widening; Microcornea; Micrognathia; Muscle weakness; Myopia; Myotonia; Narrow mouth; Narrow palpebral fissure; Osteoporosis; Overfolded helix; Pectus carinatum; Pes planus; Platyspondyly; Ptosis; Pursed lips; Short neck; Short stature; Shoulder flexion contracture; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Talipes equinovarus; Umbilical hernia; Weak voice; Wrist flexion contracture

Associated Genes HSPG2 (Withdrawn symbols: PRCAN, SJS1, perlecan )

Mouse Orthologs Hspg2 (Withdrawn symbols: AI852380, Plc )

Source OMIM:255800 (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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter