PedAM
Pediatric Disease Annotations & Medicines
| abruzzo-erickson syndrome | ||||
| Disease ID | 1894 |
|---|---|
| Disease | abruzzo-erickson syndrome |
| Definition | A multiple congenital anomalies syndrome with manifestations of cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature and radio-ulnar synostosis. To date, 4 cases have been described in the literature. These manifestations overlap with those of CHARGE syndrome, however, in contrast to CHARGE syndrome, patients with Abruzzo-Erikson syndrome do not show intellectual disability, choanal atresia or genital hypoplasia. Inherited in an X-linked recessive manner, with a carrier female having a 50% chance of transmitting the mutation to her offspring. |
| Synonym | abers abruzzo erickson syndrome charge like syndrome, x linked charge-like syndrome charge-like syndrome, x-linked cleft palate with coloboma of eye and deafness syndrome cleft palate with coloboma of eye and deafness syndrome (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1844862 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) TBX22 | Xq21.1 |
| Disease ID | 1894 |
|---|---|
| Disease | abruzzo-erickson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0100542 | Abnormal localization of kidney HP:0000407 | Sensorineural hearing impairment HP:0004322 | Stature below 3rd percentile HP:0000411 | Prominent ears HP:0001831 | Short toe HP:0000286 | Epicanthus HP:0010751 | Chin dimple HP:0004322 | Short stature HP:0001156 | Brachydactyly syndrome HP:0000567 | Chorioretinal coloboma HP:0000047 | Hypospadias HP:0001631 | Atrial septal defect HP:0002974 | Fused forearm bones HP:0000272 | Malar flattening HP:0000612 | Iris coloboma HP:0000365 | Hearing impairment HP:0000589 | Coloboma HP:0000174 | Abnormality of the palate HP:0000405 | Conductive hearing impairment HP:0001770 | Toe syndactyly HP:0000028 | Cryptorchidism HP:0012368 | Flat face HP:0000400 | Macrotia HP:0000589 | Ocular coloboma HP:0000400 | Large ears HP:0002974 | Radioulnar synostosis HP:0000175 | Palatoschisis HP:0009465 | Ulnar deviation of finger HP:0000175 | Cleft palate HP:0000482 | Microcornea HP:0008743 | Coronal hypospadias |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1894 |
|---|---|
| Disease | abruzzo-erickson syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs200060292 | NA | 50945 | TBX22 | umls:C1844862 | CLINVAR | NA | 0.240271442 | NA | TBX22 | X | 80025598 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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