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short-rib thoracic dysplasia 9 with or without polydactyly

Disease Summary
Associated Targets (1)
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Mondo Description An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Uniprot Description A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.
Disease Ontology Description An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Mondo Term and Equivalent IDs
MONDO:0009964:  short-rib thoracic dysplasia 9 with or without polydactyly
GARD:0008600: 
Orphanet:140969: 
SCTID:254092004: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)