PedAM
Pediatric Disease Annotations & Medicines
| marshall syndrome | ||||
| Disease ID | 683 |
|---|---|
| Disease | marshall syndrome |
| Definition | An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall syndrome is more mild. |
| Synonym | deafness, myopia, cataract, saddle nose-marshall type marshall syndrome (disorder) marshall's syndrome marshalls syndrome mrshs |
| Orphanet | |
| OMIM | |
| UMLS | C0265235 |
| SNOMED-CT | |
| 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) COL11A1 | 1p21.1 |
| Disease ID | 683 |
|---|---|
| Disease | marshall syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:42) HP:0000407 | Sensorineural hearing impairment HP:0001083 | Ectopia lentis HP:0002829 | Arthralgia HP:0002514 | Cerebral calcification HP:0002758 | Osteoarthritis HP:0000343 | Long philtrum HP:0000164 | Abnormality of the teeth HP:0002738 | Hypoplastic frontal sinuses HP:0004327 | Abnormality of the vitreous humor HP:0004322 | Short stature HP:0000545 | Myopia HP:0000347 | Micrognathia HP:0000520 | Proptosis HP:0003196 | Short nose HP:0000501 | Glaucoma HP:0001006 | Hypotrichosis HP:0000215 | Thick upper lip vermilion HP:0000541 | Retinal detachment HP:0000486 | Strabismus HP:0000272 | Malar flattening HP:0000535 | Sparse eyebrow HP:0000431 | Wide nasal bridge HP:0000505 | Visual impairment HP:0002007 | Frontal bossing HP:0000316 | Hypertelorism HP:0005280 | Depressed nasal bridge HP:0000646 | Amblyopia HP:0002684 | Thickened calvaria HP:0002857 | Genu valgum HP:0012368 | Flat face HP:0010669 | Cheekbone underdevelopment HP:0000655 | Vitreoretinal degeneration HP:0000518 | Cataract HP:0000639 | Nystagmus HP:0000179 | Thick lower lip vermilion HP:0000653 | Sparse eyelashes HP:0000463 | Anteverted nares HP:0000966 | Hypohidrosis HP:0000175 | Cleft palate HP:0000218 | High palate HP:0000248 | Brachycephaly HP:0000327 | Hypoplasia of the maxilla |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 683 |
|---|---|
| Disease | marshall syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0154856 | lattice degeneration |
| 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 |
| rs398122828 | NA | 1301 | COL11A1 | umls:C0265235 | CLINVAR | NA | 0.441628651 | NA | COL11A1 | 1 | 102915630 | 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.) | |