eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| transaldolase deficiency | ||||
| Disease ID | 1188 |
|---|---|
| Disease | transaldolase deficiency |
| Definition | Transaldolase deficiency is a disease characterised by abnormally low levels of the Transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al. in 2001.[3] - Wikipedia Reference: https://en.wikipedia.org/wiki/transaldolase deficiency |
| Synonym | deficiency of dihydroxyacetonetransferase deficiency of glycerone-transferase deficiency of transaldolase deficiency of transaldolase (disorder) eyaid syndrome taldo deficiency |
| Orphanet | |
| OMIM | |
| UMLS | C1291329 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) C0019204 | hepatocellular carcinoma | 1 C0035078 | renal failure | 1 C0022661 | chronic renal failure | 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) TALDO1 | 11p15.5 |
| Disease ID | 1188 |
|---|---|
| Disease | transaldolase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:47) HP:0001263 | Global developmental delay HP:0002240 | Enlarged liver HP:0001395 | Hepatic fibrosis HP:0000233 | Decreased volume of lip vermillion HP:0001562 | Oligohydramnios HP:0001009 | Telangiectasia HP:0002002 | Increased depth of philtrum HP:0001629 | Ventricular septal defects HP:0002099 | Asthma HP:0001631 | Atrial septal defect HP:0000969 | Edema HP:0001789 | Hydrops fetalis HP:0001433 | Hepatosplenomegaly HP:0001873 | Thrombocytopenia HP:0001876 | Low blood cell count HP:0000369 | Low-set ears HP:0008665 | Clitoromegaly HP:0001680 | Coarctation of aorta HP:0001394 | Hepatic cirrhosis HP:0001413 | Micronodular cirrhosis HP:0001433 | Enlarged liver and spleen HP:0001903 | Anemia HP:0100678 | Premature skin wrinkling HP:0000077 | Abnormality of the kidney HP:0001518 | Small for gestational age HP:0001643 | Persistent ductus arteriosus HP:0005280 | Flat, nasal bridge HP:0000260 | Wide anterior fontanel HP:0000154 | Large mouth HP:0001410 | Decreased liver function HP:0012202 | Increased serum bile acid concentration HP:0001508 | Weight faltering HP:0010903 | Abnormality of glutamine metabolism HP:0001999 | Abnormal facial shape HP:0001873 | Low platelet count HP:0001511 | Prenatal onset growth retardation HP:0000056 | Abnormality of the clitoris HP:0002795 | Functional respiratory abnormality HP:0000322 | Short philtrum HP:0001744 | Splenomegaly HP:0001394 | Cirrhosis HP:0200128 | Biventricular hypertrophy HP:0001009 | Telangiectases HP:0000325 | Triangular face HP:0002033 | Poor suck HP:0000664 | Unibrow HP:0001655 | Patent foramen ovale |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1188 |
|---|---|
| Disease | transaldolase deficiency |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853085 | NA | 6888 | TALDO1 | umls:C1291329 | CLINVAR | NA | 0.360814326 | NA | TALDO1 | 11 | 763393 | TCC | - |
| rs727502867 | NA | 6888 | TALDO1 | umls:C1291329 | CLINVAR | NA | 0.360814326 | NA | TALDO1 | 11 | 763902 | C | - |
| rs797045110 | NA | 6888 | TALDO1 | umls:C1291329 | CLINVAR | NA | 0.360814326 | NA | TALDO1 | 11 | 763398 | - | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100678 | Premature skin wrinkling | MP:0005421 | loose skin | condition in which the skin hangs in folds |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0001999 | Abnormal facial shape | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| 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) |
| HP:0000325 | Triangular face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0001395 | Hepatic fibrosis | MP:0003985 | renal fibrosis | formation of fibrous tissue in the kidney as a result of repair or a reactive process |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001413 | Micronodular cirrhosis | MP:0003046 | liver cirrhosis | liver disease in which the occurrence of fibrotic nodules cause diffuse damage to parenchymal cells, disruptions in microcirculation, vascular anatomy and hepatic architecture, resulting in hepatic dysfunction and ultimately, hepatic failure |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0000260 | Wide anterior fontanel | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0001410 | Decreased liver function | MP:0010398 | decreased liver glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in liver |
| HP:0001518 | Small for gestational age | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0001680 | Coarctation of aorta | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000077 | Abnormality of the kidney | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:40) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000154 | Wide mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001876 | Pancytopenia | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000325 | Triangular face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001410 | Decreased liver function | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000322 | Short philtrum | 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:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001413 | Micronodular cirrhosis | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0001518 | Small for gestational age | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001680 | Coarctation of aorta | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100678 | Premature skin wrinkling | MP:0012080 | chylous ascites | the extravasation of milky triglyceride-rich chyle into the peritoneal cavity; often a secondary symptom of neoplasms |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001655 | Patent foramen ovale | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001009 | Telangiectasia | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0012202 | Increased serum bile acid concentration | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0001395 | Hepatic fibrosis | 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:0001508 | Failure to thrive | 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:0002002 | Deep philtrum | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008665 | Clitoral hypertrophy | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0001643 | Patent ductus arteriosus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001433 | Hepatosplenomegaly | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001789 | Hydrops fetalis | 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:0001562 | Oligohydramnios | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000233 | Thin vermilion border | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000260 | Wide anterior fontanel | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002795 | Functional respiratory abnormality | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002033 | Poor suck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1188 |
|---|---|
| Disease | transaldolase deficiency |
| Case | (Waiting for update.) |