eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pierre robin sequence | ||||
| Disease ID | 780 |
|---|---|
| Disease | pierre robin sequence |
| Definition | Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. |
| Synonym | glossoptosis, micrognathia, and cleft palate micrognathia-glossoptosis syndrome piere-robin syndrome pierre robin association pierre robin syndrome pierre robin syndrome [disease/finding] pierre robin's sequence pierre robin's syndrome pierre robins sequence pierre robins syndrome pierre-robin anomaly pierre-robin deformity pierre-robin malformation pierre-robin sequence pierre-robin syndrome prbns robin sequence robin sequence (disorder) robin syndrome, pierre robins sequence sequence, pierre robin sequence, pierre robin's sequence, robin syndrome pierre robin syndrome, pierre robin syndrome, pierre-robin |
| OMIM | |
| DOID | |
| UMLS | C0031900 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0008925 | cleft palate | 6 C0037315 | sleep apnea | 3 C0520679 | obstructive sleep apnea | 2 C0008924 | cleft lip | 1 C0039538 | teratoma | 1 C0022821 | kyphosis | 1 C0009326 | collagen disorders | 1 C0022578 | keratoconus | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 780 |
|---|---|
| Disease | pierre robin sequence |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0001883 | airway obstruction | 12 C0740852 | upper airway obstruction | 6 C0008925 | cleft palate | 4 C0730362 | maculopathy | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002643 | Neonatal respiratory distress | MP:0011649 | immotile respiratory cilia | failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002643 | Neonatal respiratory distress | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000201 | Pierre-Robin sequence | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001648 | Cor pulmonale | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000162 | Glossoptosis | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002781 | Upper airway obstruction | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| Disease ID | 780 |
|---|---|
| Disease | pierre robin sequence |
| Case | (Waiting for update.) |