SRTD6
MCID: SHR069
MIFTS: 57
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Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly (SRTD6)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:
Characteristics:Inheritance:
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:
Autosomal recessive 57
Short Rib-Polydactyly Syndrome, Majewski Type:
Autosomal recessive 58
Prevelance:
Short Rib-Polydactyly Syndrome, Majewski Type:
<1/1000000 (Worldwide) 58
Age Of Onset:
Short Rib-Polydactyly Syndrome, Majewski Type:
Antenatal,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable features may be present death in perinatal period (in some patients) a digenic form caused by heterozygous mutations in both nek1 and dyn2ch1 has been reported (last curated june 2018) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Respiratory diseases Bone diseases Eye diseases Nephrological diseases Neuronal diseases
ICD10:
31
32
Orphanet: 58
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OMIM®: 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal 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 SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (263520) (Updated 08-Dec-2022) MalaCards based summary: Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to orofaciodigital syndrome iv and short rib-polydactyly syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone, pancreas and tongue, and related phenotypes are brachycephaly and hepatic fibrosis UniProtKB/Swiss-Prot: 73 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. GARD: 19 A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period. Orphanet: 58 A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period. Disease Ontology: 11 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33. Wikipedia: 75 Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short... more... |
Human phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:30 (show all 38)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:263520 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:45 (show all 11)
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Organs/tissues related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:
MalaCards :
Bone,
Pancreas,
Tongue,
Liver,
Eye,
Heart,
Brain
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Articles related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:(show top 50) (show all 79)
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ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:5 (show top 50) (show all 318)
UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:73
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Search
GEO
for disease gene expression data for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly.
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Pathways related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:
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Cellular components related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:(show all 15)
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