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SRTD13
MCID: SHR083
MIFTS: 34
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Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (SRTD13)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
death occurs early in neonatal period due to respiratory failure fetal death may occur HPO:31
short-rib thoracic dysplasia 13 with or without polydactyly:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Nephrological diseases Respiratory diseases Bone diseases
ICD10:
32
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UniProtKB/Swiss-Prot :
73
Short-rib thoracic dysplasia 13 with or without polydactyly: 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.
MalaCards based summary : Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly, also known as srtd13, is related to short-rib thoracic dysplasia 6 with or without polydactyly and cerebellopontine angle tumor. An important gene associated with Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly is CEP120 (Centrosomal Protein 120). Affiliated tissues include bone, kidney and eye, and related phenotypes are hypertelorism and respiratory insufficiency Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. |
Human phenotypes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:31 (show all 38)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616300GenomeRNAi Phenotypes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly according to GeneCards Suite gene sharing:26 (show all 14)
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MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:40
Bone,
Kidney,
Eye,
Brain,
Heart,
Liver,
Pancreas
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Articles related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:
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Genes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:6 (show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:73
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Search
GEO
for disease gene expression data for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly.
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Cellular components related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly according to GeneCards Suite gene sharing:
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