eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sengers syndrome | ||||
| Disease ID | 1393 |
|---|---|
| Disease | sengers syndrome |
| Definition | A mitochondrial disease with characteristics of cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. May present in two forms, a neonatal lethal form or a chronic form. Hypertrophic cardiomyopathy is diagnosed at birth in half of the patients in both forms. Approximately half of the patients die within the first year of life due to cardiac failure. Nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development are occasional features. Those who survive the neonatal period and infancy manifest the chronic form with stable cardiomyopathy and myopathy and have a normal intellect. Physical mobility is impaired due to muscular weakness in most patients. In the majority of cases, mutations (nonsense, frame-shift, start codon or splice site) in the AGK gene have been identified. The reported mutations are transmitted in an autosomal recessive manner. |
| Synonym | cardiomyopathy and cataract cataract and cardiomyopathy congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) mitochondrial dna depletion syndrome 10 (cardiomyopathic type) mtdps10 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1859317 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 26090 | ABHD12 | 4.863 | DISEASES 55750 | AGK | 6.027 | DISEASES 224 | ALDH3A2 | 3.149 | DISEASES 1120 | CHKB | 3.779 | DISEASES 113612 | CYP2U1 | 4.091 | DISEASES 80821 | DDHD1 | 4.265 | DISEASES 23259 | DDHD2 | 4.016 | DISEASES 10908 | PNPLA6 | 3.683 | DISEASES 9791 | PTDSS1 | 4.246 | DISEASES 84947 | SERAC1 | 5.378 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1393 |
|---|---|
| Disease | sengers syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1393 |
|---|---|
| Disease | sengers syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0340425 | hypertrophic cardiomyopathy |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387907024 | NA | 55750 | AGK | umls:C1859317 | CLINVAR | NA | 0.361085767 | NA | AGK | 7 | 141615564 | C | T |
| rs387907025 | NA | 55750 | AGK | umls:C1859317 | CLINVAR | NA | 0.361085767 | NA | AGK | 7 | 141641362 | C | T |
| rs746709222 | NA | 55750 | AGK | umls:C1859317 | CLINVAR | NA | 0.361085767 | NA | AGK | 7 | 141614164 | C | T |
| rs766413410 | NA | 55750 | AGK | umls:C1859317 | CLINVAR | NA | 0.361085767 | NA | AGK | 7 | 141615468 | C | A,G,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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1393 |
|---|---|
| Disease | sengers syndrome |
| Case | (Waiting for update.) |