eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| char syndrome | ||||
| Disease ID | 937 |
|---|---|
| Disease | char syndrome |
| Synonym | patent ductus arteriosus with facial dysmorphism and abnormal fifth digits patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1868570 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:1) TFAP2B | 6p12.3 |
| Disease ID | 937 |
|---|---|
| Disease | char syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0001263 | Global developmental delay HP:0000486 | Squint eyes HP:0002553 | Highly arched eyebrow HP:0001629 | Ventricular septal defect HP:0000545 | Myopia HP:0000365 | Hearing impairment HP:0000207 | Triangular mouth HP:0001770 | Toe syndactyly HP:0000316 | Increased distance between eye sockets HP:0006159 | Mesoaxial hand polydactyly HP:0005280 | Depressed nasal bridge HP:0004218 | Symphalangism of the 5th finger HP:0000232 | Everted lower lip vermilion HP:0000508 | Ptosis HP:0004209 | Clinodactyly of fifth digit HP:0000369 | Low-set ears HP:0002558 | Supernumerary nipple HP:0000486 | Strabismus HP:0000316 | Hypertelorism HP:0001643 | Patent ductus arteriosus HP:0000574 | Thick eyebrow HP:0012471 | Thick vermilion border HP:0000494 | Downslanted palpebral fissures HP:0006335 | Persistence of primary teeth HP:0000457 | Depressed nasal ridge HP:0001643 | Persistent ductus arteriosus HP:0000411 | Prominent ears HP:0000455 | Increased breadth of tip of nose HP:0000272 | Malar flattening HP:0000337 | Increased bitemporal dimension HP:0004209 | Clinodactyly of the 5th finger HP:0004220 | Short middle phalanx of the 5th finger HP:0002360 | Sleep disturbance HP:0000322 | Short philtrum HP:0008498 | No permanent dentition HP:0000269 | Prominent occiput HP:0010112 | Mesoaxial foot polydactyly HP:0001161 | Hand polydactyly HP:0001256 | Mild mental retardation HP:0000508 | Drooping upper eyelid HP:0009244 | Distal/middle symphalangism of 5th finger |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 937 |
|---|---|
| Disease | char 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs80338910 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50823543 | C | G |
| rs80338911 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50828684 | G | A |
| rs80338912 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50836165 | C | A,T |
| rs80338914 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50837977 | C | A |
| rs80338915 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50838007 | G | A |
| rs80338916 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50837974 | G | C |
| rs80338917 | NA | 7021 | TFAP2B | umls:C1868570 | CLINVAR | NA | 0.561628651 | NA | TFAP2B | 6 | 50838051 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010112 | Mesoaxial foot polydactyly | MP:0009743 | preaxial polydactyly | duplication of all or part of the first ray on one or more of the autopods |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0006335 | Persistence of primary teeth | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| 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:0000455 | Broad nasal tip | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0004220 | Short middle phalanx of the 5th finger | 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: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:0006159 | Mesoaxial hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
Mapped by homologous gene(Total Items:34) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000322 | Short philtrum | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000486 | Strabismus | 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:0009244 | Distal/middle symphalangism of 5th finger | MP:0011368 | increased kidney apoptosis | increase in the number of cells of the kidney undergoing programmed cell death |
| HP:0006335 | Persistence of primary teeth | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0004220 | Short middle phalanx of the 5th finger | 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:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000269 | Prominent occiput | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002553 | Highly arched eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000337 | Broad forehead | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001643 | Patent ductus arteriosus | 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:0002558 | Supernumerary nipple | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001263 | Global developmental delay | 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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000545 | Myopia | 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: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:0012471 | Thick vermilion border | MP:0014168 | abnormal brown adipose tissue mass | aberrant physical bulk or volume of brown adipose tissue |
| HP:0010112 | Mesoaxial foot polydactyly | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000207 | Triangular mouth | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0000455 | Broad nasal tip | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0006159 | Mesoaxial hand polydactyly | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| Disease ID | 937 |
|---|---|
| Disease | char syndrome |
| Case | (Waiting for update.) |