PedAM
Pediatric Disease Annotations & Medicines
| scalp-ear-nipple syndrome | ||||
| Disease ID | 1336 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Definition | Syndrome with characteristics of the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent hypoplastic ears with almost absent pinna and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. |
| Synonym | finlay marks syndrome finlay-marks syndrome hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples scalp ear nipple syndrome scalp, ear, nipple syndrome scalp, ear, nipple syndrome (disorder) sens |
| Orphanet | |
| OMIM | |
| UMLS | C1867020 |
| 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) KCTD1 | 18q11.2 |
| Disease ID | 1336 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:25) HP:0009738 | Abnormality of the antihelix HP:0006709 | Aplasia/Hypoplasia of the nipples HP:0012330 | Pyelonephritis HP:0000951 | Abnormality of the skin HP:0001231 | Abnormality of the fingernails HP:0001965 | Abnormality of the scalp HP:0000164 | Abnormality of the teeth HP:0000077 | Abnormality of the kidney HP:0000684 | Delayed eruption of teeth HP:0000822 | Hypertension HP:0008551 | Microtia HP:0000385 | Small earlobe HP:0000073 | Ureteral duplication HP:0000506 | Telecanthus HP:0000010 | Recurrent urinary tract infections HP:0000625 | Cleft eyelid HP:0100651 | Type I diabetes mellitus HP:0100783 | Breast aplasia HP:0100540 | Palpebral edema HP:0011251 | Underdeveloped antitragus HP:0008070 | Sparse hair HP:0000518 | Cataract HP:0005580 | Duplication of renal pelvis HP:0000966 | Hypohidrosis HP:0011272 | Underdeveloped tragus |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1336 |
|---|---|
| Disease | scalp-ear-nipple syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs587776998 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501147 | G | T |
| rs587776999 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501144 | G | A,C,T |
| rs587777000 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501137 | G | A,T |
| rs587777001 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26501138 | T | G |
| rs587777002 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26476603 | T | G |
| rs587777003 | NA | 284252 | KCTD1 | umls:C1867020 | CLINVAR | NA | 0.360271442 | NA | KCTD1 | 18 | 26476639 | C | T |
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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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |