eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cerebro-costo-mandibular syndrome | ||||
| Disease ID | 1926 |
|---|---|
| Disease | cerebro-costo-mandibular syndrome |
| Synonym | ccm syndrome ccms cerebro-costo-mandibular syndrome (disorder) cerebrocostomandibular syndrome rib gap defects with micrognathia rib gap defects with miicrognathia |
| Orphanet | |
| OMIM | |
| UMLS | C0265342 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SNRPB | 20p13 |
| Disease ID | 1926 |
|---|---|
| Disease | cerebro-costo-mandibular syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:34) HP:0002643 | Respiratory distress, neonatal HP:0001611 | Hypernasal speech HP:0000465 | Pterygium colli HP:0010290 | Decreased length of hard palate HP:0000347 | Hypoplasia of mandible HP:0000878 | 11 pairs of ribs HP:0002132 | Porencephaly HP:0000343 | Vertical hyperplasia of philtrum HP:0001629 | Ventricular septal defects HP:0006593 | Anomalous rib insertion to vertebrae HP:0001561 | Hydramnios HP:0000086 | Ectopic kidney HP:0000286 | Palpebronasal fold HP:0001374 | Congenital hip dislocation HP:0000162 | Retraction of the tongue HP:0004209 | Clinodactyly of fifth digit HP:0008897 | Growth retardation as children HP:0000369 | Low-set ears HP:0000107 | Renal cyst HP:0004468 | Abnormal tracheal cartilaginous ring HP:0000164 | Abnormality of the teeth HP:0000358 | Ear, posterior angulation, increased HP:0001249 | Mental retardation HP:0005257 | Small chest HP:0000252 | Small head circumference HP:0000218 | Increased palatal height HP:0002650 | Scoliosis HP:0004695 | Calcaneal epiphyseal stippling HP:0001591 | Narrow, bell-shaped thorax HP:0002987 | Elbow contracture HP:0000272 | Depressed malar region HP:0000405 | Conductive hearing loss HP:0000185 | Cleft velum HP:0005792 | Short upper arms |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 1926 |
|---|---|
| Disease | cerebro-costo-mandibular syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs786201019 | NA | 6628 | SNRPB | umls:C0265342 | CLINVAR | NA | 0.360271442 | NA | SNRPB | 20 | 2467306 | C | G |
| rs786201020 | NA | 6628 | SNRPB | umls:C0265342 | CLINVAR | NA | 0.360271442 | NA | SNRPB | 20 | 2467305 | C | G,A |
| rs786201021 | NA | 6628 | SNRPB | umls:C0265342 | CLINVAR | NA | 0.360271442 | NA | SNRPB | 20 | 2467201 | G | T |
| rs786201022 | NA | 6628 | SNRPB | umls:C0265342 | CLINVAR | NA | 0.360271442 | NA | SNRPB | 20 | 2470762 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008897 | Postnatal growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0000086 | Ectopic kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0004468 | Anomalous tracheal cartilage | MP:0004552 | fused tracheal cartilage rings | fusion of the 16-20 incomplete rings of hyaline cartilage that form the skeleton of the trachea |
| HP:0005257 | Thoracic hypoplasia | MP:0010881 | esophagus hypoplasia | underdevelopment or decreased size of the esophagus, usually due a reduced number of cells |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0000878 | 11 pairs of ribs | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| 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:0010290 | Short hard palate | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0005792 | Short humerus | MP:0008160 | increased diameter of humerus | increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge |
| HP:0000107 | Renal cyst | MP:0003266 | biliary cyst | the appearance of fluid-filled sacs within the bile ducts |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008897 | Postnatal growth retardation | 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:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001629 | Ventricular septal defect | 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:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000107 | Renal cyst | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005792 | Short humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001374 | Congenital hip dislocation | 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:0000358 | Posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002132 | Porencephaly | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0001591 | Bell-shaped thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001561 | Polyhydramnios | 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:0000086 | Ectopic kidney | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000878 | 11 pairs of ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002987 | Elbow flexion contracture | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000162 | Glossoptosis | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0001611 | Nasal speech | MP:0020040 | decreased bone ossification | decrease 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:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010290 | Short hard palate | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0004468 | Anomalous tracheal cartilage | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| 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:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0005257 | Thoracic hypoplasia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000465 | Webbed neck | 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:0000252 | Microcephaly | 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 |
| Disease ID | 1926 |
|---|---|
| Disease | cerebro-costo-mandibular syndrome |
| Case | (Waiting for update.) |