eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myhre syndrome | ||||
| Disease ID | 1617 |
|---|---|
| Disease | myhre syndrome |
| Definition | A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip). |
| Synonym | facial dysmorphism, intellectual deficit, short stature and hearing loss growth mental deficiency syndrome of myhre growth-mental deficiency syndrome of myhre laps syndrome laryngotracheal stenosis, arthropathy, prognathism and short stature laryngotracheal stenosis, arthropathy, prognathism, and short stature myhre syndrome (disorder) myhrs |
| Orphanet | |
| OMIM | |
| UMLS | C0796081 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0031046 | pericarditis | 1 C0027809 | schwannoma | 1 C0004134 | ataxia | 1 C0027859 | vestibular schwannoma | 1 C0015469 | facial paralysis | 1 |
| 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) SMAD4 | 18q21.2 |
| Disease ID | 1617 |
|---|---|
| Disease | myhre syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0100008 | Schwann cell tumour | 1 HP:0003470 | Inability to move | 1 HP:0001272 | Cerebellar atrophy | 1 HP:0009590 | Unilateral vestibular Schwannoma | 1 HP:0001701 | Pericarditis | 1 HP:0009588 | Vestibular Schwannoma | 1 HP:0007209 | Facial paresis | 1 HP:0001251 | Ataxia | 1 |
| Disease ID | 1617 |
|---|---|
| Disease | myhre 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 |
| rs281875320 | NA | 4089 | SMAD4 | umls:C0796081 | CLINVAR | NA | 0.481900093 | NA | SMAD4 | 18 | 51078308 | A | G |
| rs281875320 | 22158539 | 4089 | SMAD4 | umls:C0796081 | UNIPROT | Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. | 0.481900093 | 2012 | SMAD4 | 18 | 51078308 | A | G |
| rs281875321 | NA | 4089 | SMAD4 | umls:C0796081 | CLINVAR | NA | 0.481900093 | NA | SMAD4 | 18 | 51078307 | T | C |
| rs281875321 | 22158539 | 4089 | SMAD4 | umls:C0796081 | UNIPROT | Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. | 0.481900093 | 2012 | SMAD4 | 18 | 51078307 | T | C |
| rs281875322 | NA | 4089 | SMAD4 | umls:C0796081 | CLINVAR | NA | 0.481900093 | NA | SMAD4 | 18 | 51078306 | A | G |
| rs281875322 | 22158539 | 4089 | SMAD4 | umls:C0796081 | UNIPROT | Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. | 0.481900093 | 2012 | SMAD4 | 18 | 51078306 | A | G |
| rs397518413 | NA | 4089 | SMAD4 | umls:C0796081 | CLINVAR | NA | 0.481900093 | NA | SMAD4 | 18 | 51078294 | 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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1617 |
|---|---|
| Disease | myhre syndrome |
| Case | (Waiting for update.) |