Disease: Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Name Ehlers-Danlos Syndrome, Musculocontractural Type, 1

Synonyms ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME , ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS , ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS , DUNDAR SYNDROME , EDSMC , EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY

Classification cardiac malformation, developmental, genetic, metabolism, neurological, renal, skin, sucking/swallowing, systemic and rheumatological

Phenotypes Abnormal anterior chamber morphology; Abnormal duodenum morphology; Abnormal facial shape; Abnormality of the mouth; Adducted thumb; Arachnodactyly; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blue sclerae; Brachycephaly; Broad forehead; Bruising susceptibility; Cleft palate; Constipation; Cryptorchidism; Delayed cranial suture closure; Diastasis recti; Distal arthrogryposis; Downslanted palpebral fissures; Ecchymosis; Facial asymmetry; Flat forehead; Fragile skin; Generalized hypotonia; Generalized joint laxity; Glaucoma; Global developmental delay; Hearing impairment; Hiatus hernia; High palate; Hydronephrosis; Hyperalgesia; Hyperextensible skin; Hypertelorism; Intellectual disability; Intestinal malrotation; Joint dislocation; Large fontanelles; Long philtrum; Microcornea; Microretrognathia; Motor delay; Myopia; Narrow mouth; Nephrotic syndrome; Pectus excavatum; Pneumothorax; Posteriorly rotated ears; Protruding ear; Recurrent skin infections; Retinal detachment; Scarring; Scoliosis; Strabismus; Talipes equinovarus; Telecanthus; Thin upper lip vermilion; Umbilical hernia; Ventriculomegaly

Associated Genes CHST14 (Withdrawn symbols: D4ST-1, D4ST1, HD4ST )

Mouse Orthologs Chst14 (Withdrawn symbols: 2600016L03Rik, D4st1 )

Source OMIM:601776 (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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