PedAM
Pediatric Disease Annotations & Medicines
| emanuel syndrome | ||||
| Disease ID | 1868 |
|---|---|
| Disease | emanuel syndrome |
| Definition | Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including profound mental retardation, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. An unbalanced translocation between chromosomes 11 & 22 is described as Emanuel syndrome. It was characterized in 1980.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/emanuel syndrome |
| Synonym | 22) syndrome 22) syndrome (disorder) der(22) syndrome due to 3:1 meiotic disjunction events supernumary der(22) syndrome supernumary der(22)t(11 supernumary derivative 22 chromosome syndrome supernumerary der(22) syndrome supernumerary der(22)t(11 supernumerary derivative 22 chromosome syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1836929 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1868 |
|---|---|
| Disease | emanuel syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:80) HP:0012735 | Cough HP:0000369 | Low-set ears HP:0000384 | Preauricular skin tag HP:0000960 | Sacral dimple HP:0001274 | Agenesis of corpus callosum HP:0012714 | Severe hearing impairment HP:0000343 | Long philtrum HP:0000122 | Unilateral renal agenesis HP:0009101 | Submucous cleft lip HP:0002015 | Dysphagia HP:0002019 | Constipation HP:0000135 | Hypogonadism HP:0030820 | Hooded eyelid HP:0001263 | Global developmental delay HP:0000483 | Astigmatism HP:0004397 | Ectopic anus HP:0001629 | Ventricular septal defect HP:0000789 | Infertility HP:0000490 | Deeply set eye HP:0001562 | Oligohydramnios HP:0005401 | Recurrent candida infections HP:0005989 | Redundant neck skin HP:0000403 | Recurrent otitis media HP:0000678 | Dental crowding HP:0000545 | Myopia HP:0000347 | Micrognathia HP:0000750 | Delayed speech and language development HP:0001510 | Growth delay HP:0012802 | Broad jaw HP:0000684 | Delayed eruption of teeth HP:0000089 | Renal hypoplasia HP:0000540 | Hypermetropia HP:0001631 | Atrial septal defect HP:0001622 | Premature birth HP:0000486 | Strabismus HP:0001250 | Seizures HP:0000692 | Misalignment of teeth HP:0000238 | Hydrocephalus HP:0002751 | Kyphoscoliosis HP:0002023 | Anal atresia HP:0000193 | Bifid uvula HP:0000365 | Hearing impairment HP:0000508 | Ptosis HP:0001650 | Aortic valve stenosis HP:0011968 | Feeding difficulties HP:0001623 | Breech presentation HP:0000028 | Cryptorchidism HP:0001642 | Pulmonic stenosis HP:0001195 | Single umbilical artery HP:0001374 | Congenital hip dislocation HP:0009765 | Low hanging columella HP:0000023 | Inguinal hernia HP:0000400 | Macrotia HP:0000776 | Congenital diaphragmatic hernia HP:0002500 | Abnormality of the cerebral white matter HP:0002059 | Cerebral atrophy HP:0002205 | Recurrent respiratory infections HP:0005815 | Supernumerary ribs HP:0001643 | Patent ductus arteriosus HP:0001511 | Intrauterine growth retardation HP:0001290 | Generalized hypotonia HP:0002650 | Scoliosis HP:0002119 | Ventriculomegaly HP:0002308 | Arnold-Chiari malformation HP:0003028 | Abnormality of the ankles HP:0002719 | Recurrent infections HP:0004467 | Preauricular pit HP:0000252 | Microcephaly HP:0001249 | Intellectual disability HP:0000054 | Micropenis HP:0001558 | Decreased fetal movement HP:0002562 | Low-set nipples HP:0002828 | Multiple joint contractures HP:0001508 | Failure to thrive HP:0000582 | Upslanted palpebral fissure HP:0001660 | Truncus arteriosus HP:0002020 | Gastroesophageal reflux HP:0000218 | High palate HP:0000175 | Cleft palate HP:0001305 | Dandy-Walker malformation |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1868 |
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| Disease | emanuel syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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Chemical(Total Drugs:0) | |
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