eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gracile syndrome | ||||
| Disease ID | 1811 |
|---|---|
| Disease | gracile syndrome |
| Synonym | bcs bcs1 homolog, ubiquinol-cytochrome c reductase complex chaperone bcs1, s. cerevisiae, homolog-like bcs1l bcs1l gene h-bcs hs.6719 |
| Orphanet | |
| OMIM | |
| UMLS | C1412777 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) BCS1L | 2q35 |
| Disease ID | 1811 |
|---|---|
| Disease | gracile syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0001994 | Renal Fanconi syndrome HP:0003281 | Increased serum ferritin HP:0012465 | Elevated hepatic iron concentration HP:0001394 | Cirrhosis HP:0001396 | Cholestasis HP:0003128 | Lactic acidosis HP:0000365 | Hearing impairment HP:0001511 | Intrauterine growth retardation HP:0001397 | Hepatic steatosis HP:0012464 | Decreased transferrin saturation HP:0100613 | Death in early adulthood |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1811 |
|---|---|
| Disease | gracile 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003128 | Lactic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100613 | Death in early adulthood | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0003281 | Increased serum ferritin | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001994 | Renal Fanconi syndrome | MP:0013723 | increased circulating tyrosine level | the amount of the amino acid histidine in the blood is more than expected |
| HP:0003128 | Lactic acidosis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001396 | Cholestasis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| Disease ID | 1811 |
|---|---|
| Disease | gracile syndrome |
| Case | (Waiting for update.) |